#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_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ATP6V0E1	8992	genome.wustl.edu	37	5	172410873	172410873	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr5:172410873C>G	ENST00000519374.1	+	1	114	c.10C>G	c.(10-12)Cac>Gac	p.H4D	ATP6V0E1_ENST00000265093.4_Missense_Mutation_p.H4D|ATP6V0E1_ENST00000517669.1_Missense_Mutation_p.H4D|ATP6V0E1_ENST00000519911.1_Missense_Mutation_p.H4D	NM_003945.3	NP_003936.1	O15342	VA0E1_HUMAN	ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1	4					ATP hydrolysis coupled proton transport (GO:0015991)|cell growth (GO:0016049)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|response to amino acid (GO:0043200)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	ATPase activity, coupled to transmembrane movement of ions (GO:0042625)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)			lung(2)	2	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CATGGCGTATCACGGCCTCAC	0.607																																						dbGAP											0													226.0	202.0	210.0					5																	172410873		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y15286	CCDS4383.1	5q35.2	2010-04-21	2006-10-12	2006-10-12	ENSG00000113732	ENSG00000113732		"""ATPases / V-type"""	863	protein-coding gene	gene with protein product		603931	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 9kD"", ""ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e"""	ATP6H, ATP6V0E		9556572, 14970230	Standard	NM_003945		Approved	M9.2	uc003mcd.1	O15342	OTTHUMG00000130518	ENST00000519374.1:c.10C>G	5.37:g.172410873C>G	ENSP00000429690:p.His4Asp		B2R557|D3DQM1|Q6IBE8	Missense_Mutation	SNP	pfam_ATPase_V0-cplx_esu,pirsf_ATPase_V0-cplx_esu_met	p.H4D	ENST00000519374.1	37	c.10	CCDS4383.1	5	.	.	.	.	.	.	.	.	.	.	C	11.36	1.614970	0.28712	.	.	ENSG00000113732	ENST00000519374;ENST00000519911;ENST00000265093;ENST00000517669	.	.	.	5.34	0.803	0.18691	.	0.940554	0.09178	N	0.837821	T	0.26521	0.0648	.	.	.	0.09310	N	1	B	0.17465	0.022	B	0.15484	0.013	T	0.22417	-1.0217	8	0.35671	T	0.21	-15.3803	4.876	0.13656	0.1541:0.6054:0.1352:0.1053	.	4	O15342	VA0E1_HUMAN	D	4	.	ENSP00000265093:H4D	H	+	1	0	ATP6V0E1	172343479	0.000000	0.05858	0.002000	0.10522	0.858000	0.48976	0.281000	0.18810	0.609000	0.30018	0.655000	0.94253	CAC	ATP6V0E1	-	pirsf_ATPase_V0-cplx_esu_met	ENSG00000113732		0.607	ATP6V0E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0E1	HGNC	protein_coding	OTTHUMT00000252935.2	88	0.00	0	C	NM_003945		172410873	172410873	+1	no_errors	ENST00000517669	ensembl	human	known	69_37n	missense	34	29.17	14	SNP	0.000	G
BLM	641	genome.wustl.edu	37	15	91346773	91346773	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr15:91346773G>T	ENST00000355112.3	+	18	3499	c.3381G>T	c.(3379-3381)caG>caT	p.Q1127H	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Intron	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1127					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CAAAAATCCAGTCAGGTATAT	0.348			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													dbGAP	yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"""L, E"""	0													73.0	72.0	72.0					15																	91346773		2198	4298	6496	-	-	-	SO:0001583	missense	0	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.3381G>T	15.37:g.91346773G>T	ENSP00000347232:p.Gln1127His		Q52M96	Missense_Mutation	SNP	pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/RNaseD_C,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.Q1127H	ENST00000355112.3	37	c.3381	CCDS10363.1	15	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959730	0.53400	.	.	ENSG00000197299	ENST00000355112;ENST00000536925;ENST00000543977	T	0.49720	0.77	5.65	5.65	0.86999	RQC domain (2);	0.059831	0.64402	D	0.000002	T	0.45316	0.1336	M	0.62266	1.93	0.80722	D	1	B	0.14438	0.01	B	0.11329	0.006	T	0.42616	-0.9441	10	0.59425	D	0.04	-4.2684	10.6221	0.45487	0.0865:0.0:0.9135:0.0	.	1127	P54132	BLM_HUMAN	H	1127;757;314	ENSP00000347232:Q1127H	ENSP00000347232:Q1127H	Q	+	3	2	BLM	89147777	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	4.434000	0.59935	2.677000	0.91161	0.561000	0.74099	CAG	BLM	-	pfam_RQC_domain,smart_RQC_domain,tigrfam_DNA_helicase_ATP-dep_RecQ	ENSG00000197299		0.348	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLM	HGNC	protein_coding	OTTHUMT00000313495.1	126	0.00	0	G			91346773	91346773	+1	no_errors	ENST00000355112	ensembl	human	known	69_37n	missense	100	19.35	24	SNP	1.000	T
BTN1A1	696	genome.wustl.edu	37	6	26509153	26509153	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr6:26509153C>G	ENST00000244513.6	+	7	1398	c.1332C>G	c.(1330-1332)atC>atG	p.I444M		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	444	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GATCTGATATCTATACTTTCT	0.512																																						dbGAP											0													81.0	74.0	76.0					6																	26509153		2203	4300	6503	-	-	-	SO:0001583	missense	0			U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.1332C>G	6.37:g.26509153C>G	ENSP00000244513:p.Ile444Met		Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin	p.I444M	ENST00000244513.6	37	c.1332	CCDS4614.1	6	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375049	0.24857	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.68479	-0.33	5.84	3.07	0.35406	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.099309	0.44902	D	0.000401	T	0.74015	0.3661	M	0.90922	3.16	0.36058	D	0.841275	D	0.69078	0.997	D	0.79784	0.993	T	0.73975	-0.3813	10	0.62326	D	0.03	.	2.976	0.05937	0.148:0.5561:0.1428:0.1531	.	444	Q13410	BT1A1_HUMAN	M	444	ENSP00000244513:I444M	ENSP00000244513:I444M	I	+	3	3	BTN1A1	26617132	0.995000	0.38212	0.641000	0.29422	0.052000	0.14988	0.586000	0.23894	0.358000	0.24211	-0.169000	0.13324	ATC	BTN1A1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000124557		0.512	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN1A1	HGNC	protein_coding	OTTHUMT00000043776.1	185	0.00	0	C	NM_001732		26509153	26509153	+1	no_errors	ENST00000244513	ensembl	human	known	69_37n	missense	92	26.40	33	SNP	0.981	G
C11orf30	56946	genome.wustl.edu	37	11	76227289	76227289	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr11:76227289C>G	ENST00000529032.1	+	10	1617	c.1617C>G	c.(1615-1617)atC>atG	p.I539M	C11orf30_ENST00000334736.3_Missense_Mutation_p.I539M|C11orf30_ENST00000525919.1_Missense_Mutation_p.I540M|C11orf30_ENST00000525038.1_Missense_Mutation_p.I554M|C11orf30_ENST00000524490.1_Missense_Mutation_p.I455M|C11orf30_ENST00000524767.1_Missense_Mutation_p.I554M|C11orf30_ENST00000343878.3_Missense_Mutation_p.I539M|C11orf30_ENST00000533248.1_Missense_Mutation_p.I553M			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	539	Thr-rich.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GTGGTAGCATCATTACAGTAG	0.448																																						dbGAP											0													109.0	103.0	105.0					11																	76227289		2200	4292	6492	-	-	-	SO:0001583	missense	0			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.1617C>G	11.37:g.76227289C>G	ENSP00000432327:p.Ile539Met		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	pfam_ENT_N,pfscan_ENT_N	p.I539M	ENST00000529032.1	37	c.1617	CCDS8244.1	11	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909693	0.33721	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000533972;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032;ENST00000531998	.	.	.	5.08	4.17	0.49024	.	0.049252	0.85682	D	0.000000	T	0.54159	0.1841	L	0.27053	0.805	0.47374	D	0.999406	D;D;D;D;D;D	0.71674	0.995;0.995;0.995;0.998;0.995;0.998	D;D;D;D;D;D	0.78314	0.979;0.979;0.979;0.991;0.986;0.991	T	0.54337	-0.8309	9	0.46703	T	0.11	-7.205	6.2226	0.20689	0.1498:0.695:0.0:0.1552	.	553;554;554;540;455;539	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	M	455;539;539;108;554;553;540;554;539;81	.	ENSP00000334130:I539M	I	+	3	3	C11orf30	75904937	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.445000	0.52921	1.260000	0.44134	0.557000	0.71058	ATC	C11orf30	-	NULL	ENSG00000158636		0.448	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf30	HGNC	protein_coding	OTTHUMT00000383288.2	156	0.00	0	C	NM_020193		76227289	76227289	+1	no_errors	ENST00000334736	ensembl	human	known	69_37n	missense	155	12.92	23	SNP	1.000	G
C6orf165	154313	genome.wustl.edu	37	6	88136307	88136307	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr6:88136307G>C	ENST00000507897.1	+	8	987	c.904G>C	c.(904-906)Gaa>Caa	p.E302Q	C6ORF165_ENST00000369562.4_Missense_Mutation_p.E302Q			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	302										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGCCCATCTGGAACAACTAAA	0.323																																						dbGAP											0													71.0	69.0	70.0					6																	88136307		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.904G>C	6.37:g.88136307G>C	ENSP00000426769:p.Glu302Gln		A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	pfam_DUF3508	p.E302Q	ENST00000507897.1	37	c.904	CCDS34498.1	6	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247880	0.39697	.	.	ENSG00000213204	ENST00000369562	T	0.32753	1.44	5.7	5.7	0.88788	.	0.145914	0.64402	D	0.000011	T	0.23611	0.0571	M	0.73962	2.25	0.43283	D	0.995254	P;B	0.41498	0.752;0.163	B;B	0.41691	0.364;0.077	T	0.04090	-1.0978	10	0.15499	T	0.54	.	14.972	0.71241	0.07:0.0:0.93:0.0	.	302;302	Q8IYR0;E1P509	CF165_HUMAN;.	Q	302	ENSP00000358575:E302Q	ENSP00000358575:E302Q	E	+	1	0	C6orf165	88193026	1.000000	0.71417	0.998000	0.56505	0.844000	0.47949	4.276000	0.58933	2.692000	0.91855	0.467000	0.42956	GAA	C6orf165	-	pfam_DUF3508	ENSG00000213204		0.323	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	C6orf165	HGNC	protein_coding	OTTHUMT00000470406.1	42	0.00	0	G	NM_178823		88136307	88136307	+1	no_errors	ENST00000369562	ensembl	human	known	69_37n	missense	13	38.10	8	SNP	1.000	C
CIT	11113	genome.wustl.edu	37	12	120152115	120152115	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr12:120152115C>T	ENST00000261833.7	-	32	4119	c.4067G>A	c.(4066-4068)cGc>cAc	p.R1356H	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.R1398H|MIR1178_ENST00000408396.1_RNA	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1356					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GTGGTGCATGCGTTCCTTAAG	0.453																																						dbGAP											0													179.0	139.0	152.0					12																	120152115		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.4067G>A	12.37:g.120152115C>T	ENSP00000261833:p.Arg1356His		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.R1356H	ENST00000261833.7	37	c.4067	CCDS9192.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.009895|6.009895	0.97200|0.97200	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|D;D	.|0.84873	.|-1.91;-1.91	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.057396	.|0.64402	.|D	.|0.000002	D|D	0.92166|0.92166	0.7516|0.7516	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.78314	.|0.991;0.991;0.963	D|D	0.91721|0.91721	0.5389|0.5389	5|10	.|0.72032	.|D	.|0.01	.|.	20.6208|20.6208	0.99490|0.99490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1398;1356;874	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	T|H	969|1398;1356	.|ENSP00000376306:R1398H;ENSP00000261833:R1356H	.|ENSP00000261833:R1356H	A|R	-|-	1|2	0|0	CIT|CIT	118636498|118636498	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	7.196000|7.196000	0.77805|0.77805	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GCA|CGC	CIT	-	pirsf_Citron_Rho-interacting_kinase	ENSG00000122966		0.453	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	HGNC	protein_coding	OTTHUMT00000259410.4	111	0.00	0	C	NM_007174		120152115	120152115	-1	no_errors	ENST00000261833	ensembl	human	known	69_37n	missense	40	21.57	11	SNP	1.000	T
COX10	1352	genome.wustl.edu	37	17	14095383	14095383	+	Missense_Mutation	SNP	T	T	A	rs587780911		TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr17:14095383T>A	ENST00000261643.3	+	6	850	c.773T>A	c.(772-774)cTc>cAc	p.L258H	COX10_ENST00000537334.1_Missense_Mutation_p.L41H|COX10_ENST00000536205.1_Missense_Mutation_p.L66H	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	258			L -> H. {ECO:0000269|PubMed:21248752}.		aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		GTGAATCCACTCACAGGAGCC	0.522																																						dbGAP											0													94.0	93.0	94.0					17																	14095383		2203	4300	6503	-	-	-	SO:0001583	missense	0			U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.773T>A	17.37:g.14095383T>A	ENSP00000261643:p.Leu258His		B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase	p.L258H	ENST00000261643.3	37	c.773	CCDS11166.1	17	.	.	.	.	.	.	.	.	.	.	T	23.0	4.357474	0.82243	.	.	ENSG00000006695	ENST00000261643;ENST00000536205;ENST00000537334	D;D;D	0.93133	-3.17;-3.17;-3.17	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.97408	0.9152	H	0.94698	3.57	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.981;0.976	D	0.98362	1.0549	10	0.87932	D	0	-32.1065	13.5184	0.61553	0.0:0.0:0.0:1.0	.	66;258	B4DJ50;Q12887	.;COX10_HUMAN	H	258;66;41	ENSP00000261643:L258H;ENSP00000439494:L66H;ENSP00000443354:L41H	ENSP00000261643:L258H	L	+	2	0	COX10	14036108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.342000	0.79310	1.999000	0.58509	0.533000	0.62120	CTC	COX10	-	pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase	ENSG00000006695		0.522	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX10	HGNC	protein_coding	OTTHUMT00000130003.1	177	0.56	1	T	NM_001303		14095383	14095383	+1	no_errors	ENST00000261643	ensembl	human	known	69_37n	missense	58	12.12	8	SNP	1.000	A
PEX19	5824	genome.wustl.edu	37	1	160251960	160251960	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr1:160251960T>C	ENST00000368072.5	-	5	484	c.463A>G	c.(463-465)Aag>Gag	p.K155E	DCAF8_ENST00000556710.1_Missense_Mutation_p.K8E|DCAF8_ENST00000608310.1_Missense_Mutation_p.K8E|PEX19_ENST00000440949.3_Missense_Mutation_p.K65E|PEX19_ENST00000532508.1_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	155					chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCATGGCCTTGGTCAGCTCT	0.522																																						dbGAP											0													115.0	100.0	105.0					1																	160251960		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"""housekeeping gene, 33kD"""	600279	"""peroxisomal farnesylated protein"""	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.463A>G	1.37:g.160251960T>C	ENSP00000357051:p.Lys155Glu		D3DVE7|Q5QNY4|Q8NI97	Missense_Mutation	SNP	pfam_Pex19,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K8E	ENST00000368072.5	37	c.22	CCDS1201.1	1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.055966	0.76074	.	.	ENSG00000132716;ENSG00000258465;ENSG00000258465;ENSG00000162735;ENSG00000162735;ENSG00000162735;ENSG00000162735	ENST00000555195;ENST00000556710;ENST00000485079;ENST00000368072;ENST00000429425;ENST00000440949;ENST00000392220	T;T	0.66280	-0.2;-0.2	5.38	4.19	0.49359	.	0.048741	0.85682	D	0.000000	T	0.57184	0.2036	L	0.56396	1.775	0.53005	D	0.999967	D;D	0.58268	0.982;0.961	P;P	0.54965	0.765;0.764	T	0.56123	-0.8031	10	0.29301	T	0.29	-15.3027	11.1797	0.48620	0.0:0.0:0.1538:0.8462	.	8;155	G3V3G9;P40855	.;PEX19_HUMAN	E	8;8;25;155;135;65;135	ENSP00000451989:K8E;ENSP00000451235:K8E	ENSP00000357051:K155E	K	-	1	0	RP11-574F21.3;PEX19;DCAF8	158518584	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.115000	0.50391	2.043000	0.60533	0.460000	0.39030	AAG	DCAF8	-	pfam_Pex19	ENSG00000132716		0.522	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8	HGNC	protein_coding	OTTHUMT00000080642.2	86	0.00	0	T	NM_002857		160251960	160251960	-1	no_errors	ENST00000555195	ensembl	human	known	69_37n	missense	72	28.00	28	SNP	1.000	C
DEFB112	245915	genome.wustl.edu	37	6	50016314	50016314	+	Silent	SNP	T	T	C			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr6:50016314T>C	ENST00000322246.4	-	1	50	c.51A>G	c.(49-51)tcA>tcG	p.S17S		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	17					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TATTTGTCTTTGAGTACATTT	0.333																																						dbGAP											0													128.0	125.0	126.0					6																	50016314		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			DQ012016	CCDS34476.1	6p12.3	2010-03-30			ENSG00000180872	ENSG00000180872		"""Defensins, beta"""	18093	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037498		Approved	DEFB-12	uc011dws.2	Q30KQ8	OTTHUMG00000160215	ENST00000322246.4:c.51A>G	6.37:g.50016314T>C			Q8NET0	Silent	SNP	NULL	p.S17	ENST00000322246.4	37	c.51	CCDS34476.1	6																																																																																			DEFB112	-	NULL	ENSG00000180872		0.333	DEFB112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB112	HGNC	protein_coding	OTTHUMT00000359672.1	89	0.00	0	T	NM_001037498		50016314	50016314	-1	no_errors	ENST00000322246	ensembl	human	known	69_37n	silent	46	20.69	12	SNP	0.000	C
DNAH5	1767	genome.wustl.edu	37	5	13862717	13862717	+	Missense_Mutation	SNP	G	G	A	rs184151103	byFrequency	TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr5:13862717G>A	ENST00000265104.4	-	29	4840	c.4736C>T	c.(4735-4737)tCg>tTg	p.S1579L	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1579	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GATGATTTCCGAGGTACTGTC	0.458									Kartagener syndrome				G|||	2	0.000399361	0.0008	0.0014	5008	,	,		12453	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													143.0	135.0	138.0					5																	13862717		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4736C>T	5.37:g.13862717G>A	ENSP00000265104:p.Ser1579Leu		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.S1579L	ENST00000265104.4	37	c.4736	CCDS3882.1	5	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	12.34	1.908954	0.33721	.	.	ENSG00000039139	ENST00000265104	T	0.62105	0.05	5.22	5.22	0.72569	Dynein heavy chain, domain-2 (1);	0.212711	0.41712	D	0.000825	T	0.57373	0.2049	L	0.45581	1.43	0.58432	D	0.999995	B	0.13145	0.007	B	0.15870	0.014	T	0.52215	-0.8605	10	0.23302	T	0.38	.	18.7717	0.91894	0.0:0.0:1.0:0.0	.	1579	Q8TE73	DYH5_HUMAN	L	1579	ENSP00000265104:S1579L	ENSP00000265104:S1579L	S	-	2	0	DNAH5	13915717	1.000000	0.71417	0.815000	0.32552	0.161000	0.22273	9.716000	0.98752	2.455000	0.83008	0.650000	0.86243	TCG	DNAH5	-	pfam_Dynein_heavy_dom-2	ENSG00000039139		0.458	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	233	0.43	1	G	NM_001369		13862717	13862717	-1	no_errors	ENST00000265104	ensembl	human	known	69_37n	missense	240	15.19	43	SNP	0.941	A
DOPEY2	9980	genome.wustl.edu	37	21	37617884	37617884	+	Silent	SNP	C	C	T	rs112487012		TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr21:37617884C>T	ENST00000399151.3	+	19	3691	c.3606C>T	c.(3604-3606)ctC>ctT	p.L1202L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1202					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACTTGGAGCTCCAGGCCCTCA	0.622																																						dbGAP											0													45.0	41.0	42.0					21																	37617884		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.3606C>T	21.37:g.37617884C>T			D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	pfam_Dopey_N	p.L1202	ENST00000399151.3	37	c.3606	CCDS13643.1	21																																																																																			DOPEY2	-	NULL	ENSG00000142197		0.622	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	36	0.00	0	C	NM_005128		37617884	37617884	+1	no_errors	ENST00000399151	ensembl	human	known	69_37n	silent	10	33.33	5	SNP	0.221	T
DSE	29940	genome.wustl.edu	37	6	116757429	116757429	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr6:116757429G>C	ENST00000331677.3	+	7	2242	c.1798G>C	c.(1798-1800)Gat>Cat	p.D600H	DSE_ENST00000359564.2_Missense_Mutation_p.D600H|DSE_ENST00000537543.1_Missense_Mutation_p.D619H|DSE_ENST00000452085.3_Missense_Mutation_p.D600H			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	600					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GACTGTGGTAGATGGTGTCCA	0.488																																						dbGAP											0													100.0	92.0	95.0					6																	116757429		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.1798G>C	6.37:g.116757429G>C	ENSP00000332151:p.Asp600His		Q5R3K6	Missense_Mutation	SNP	superfamily_Chondroitin_lyas	p.D619H	ENST00000331677.3	37	c.1855	CCDS5107.1	6	.	.	.	.	.	.	.	.	.	.	G	15.24	2.773373	0.49786	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.77350	0.4117	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.982	T	0.75900	-0.3154	10	0.56958	D	0.05	-22.9627	20.5211	0.99222	0.0:0.0:1.0:0.0	.	619;600	B7Z765;Q9UL01	.;DSE_HUMAN	H	600;619;600;600	ENSP00000404049:D600H;ENSP00000441152:D619H;ENSP00000332151:D600H;ENSP00000352567:D600H	ENSP00000332151:D600H	D	+	1	0	DSE	116864122	1.000000	0.71417	0.999000	0.59377	0.613000	0.37349	6.696000	0.74598	2.861000	0.98227	0.650000	0.86243	GAT	DSE	-	NULL	ENSG00000111817		0.488	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DSE	HGNC	protein_coding	OTTHUMT00000041940.2	87	0.00	0	G	NM_013352		116757429	116757429	+1	no_errors	ENST00000537543	ensembl	human	known	69_37n	missense	54	21.74	15	SNP	1.000	C
FCER1A	2205	genome.wustl.edu	37	1	159277697	159277697	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr1:159277697C>T	ENST00000368115.1	+	6	848	c.749C>T	c.(748-750)cCt>cTt	p.P250L	FCER1A_ENST00000368114.1_Missense_Mutation_p.P217L	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	250					activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	AACCCACATCCTAAGCCAAAC	0.383																																						dbGAP											0													86.0	82.0	84.0					1																	159277697		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.749C>T	1.37:g.159277697C>T	ENSP00000357097:p.Pro250Leu			Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.P250L	ENST00000368115.1	37	c.749	CCDS1184.1	1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895520	0.33442	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.02606	4.62;4.23	4.15	-1.11	0.09840	.	1.564540	0.03966	N	0.290796	T	0.00906	0.0030	L	0.38531	1.155	0.09310	N	1	B	0.22080	0.064	B	0.21151	0.033	T	0.48559	-0.9025	10	0.66056	D	0.02	.	3.4251	0.07408	0.1785:0.4118:0.0:0.4097	.	250	P12319	FCERA_HUMAN	L	250;217	ENSP00000357097:P250L;ENSP00000357096:P217L	ENSP00000357096:P217L	P	+	2	0	FCER1A	157544321	0.000000	0.05858	0.000000	0.03702	0.184000	0.23303	-0.026000	0.12392	-0.192000	0.10432	0.650000	0.86243	CCT	FCER1A	-	NULL	ENSG00000179639		0.383	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCER1A	HGNC	protein_coding	OTTHUMT00000090328.2	142	0.00	0	C	NM_002001		159277697	159277697	+1	no_errors	ENST00000368115	ensembl	human	known	69_37n	missense	153	22.73	45	SNP	0.000	T
IRF9	10379	genome.wustl.edu	37	14	24633978	24633978	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr14:24633978C>T	ENST00000396864.3	+	7	1092	c.805C>T	c.(805-807)Cag>Tag	p.Q269*	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Nonsense_Mutation_p.Q167*	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	269					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		GGAGCCCACGCAGCGCCTGCT	0.652																																						dbGAP											0													47.0	47.0	47.0					14																	24633978		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.805C>T	14.37:g.24633978C>T	ENSP00000380073:p.Gln269*		D3DS61	Nonsense_Mutation	SNP	pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.Q269*	ENST00000396864.3	37	c.805	CCDS9615.1	14	.	.	.	.	.	.	.	.	.	.	C	37	6.099733	0.97281	.	.	ENSG00000213928	ENST00000396864	.	.	.	5.32	3.37	0.38596	.	1.146510	0.06517	U	0.739061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-17.179	7.7222	0.28740	0.1764:0.6298:0.1939:0.0	.	.	.	.	X	269	.	ENSP00000380073:Q269X	Q	+	1	0	IRF9	23703818	0.013000	0.17824	0.995000	0.50966	0.984000	0.73092	0.800000	0.27042	1.427000	0.47276	0.563000	0.77884	CAG	IRF9	-	pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain	ENSG00000213928		0.652	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF9	HGNC	protein_coding	OTTHUMT00000071927.2	80	0.00	0	C			24633978	24633978	+1	no_errors	ENST00000396864	ensembl	human	known	69_37n	nonsense	35	10.26	4	SNP	0.880	T
LRP2	4036	genome.wustl.edu	37	2	170060576	170060576	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr2:170060576T>C	ENST00000263816.3	-	42	8206	c.7921A>G	c.(7921-7923)Aac>Gac	p.N2641D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2641					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACAACAGTGTTGATTCCCCTG	0.458																																						dbGAP											0													184.0	187.0	186.0					2																	170060576		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7921A>G	2.37:g.170060576T>C	ENSP00000263816:p.Asn2641Asp		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.N2641D	ENST00000263816.3	37	c.7921	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	T	5.242	0.230049	0.09969	.	.	ENSG00000081479	ENST00000263816	D	0.88975	-2.45	5.58	1.2	0.21068	Six-bladed beta-propeller, TolB-like (1);	0.439888	0.27236	N	0.020286	T	0.76248	0.3961	N	0.22421	0.69	0.80722	D	1	B	0.25235	0.121	B	0.20955	0.032	T	0.60596	-0.7232	10	0.31617	T	0.26	.	4.2706	0.10785	0.1982:0.0:0.4475:0.3543	.	2641	P98164	LRP2_HUMAN	D	2641	ENSP00000263816:N2641D	ENSP00000263816:N2641D	N	-	1	0	LRP2	169768822	0.985000	0.35326	0.000000	0.03702	0.009000	0.06853	1.849000	0.39318	-0.083000	0.12618	0.533000	0.62120	AAC	LRP2	-	NULL	ENSG00000081479		0.458	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	334	0.00	0	T	NM_004525		170060576	170060576	-1	no_errors	ENST00000263816	ensembl	human	known	69_37n	missense	141	23.66	44	SNP	0.777	C
LYST	1130	genome.wustl.edu	37	1	235973301	235973301	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr1:235973301C>T	ENST00000389794.3	-	5	991	c.817G>A	c.(817-819)Gtt>Att	p.V273I	LYST_ENST00000536965.1_Missense_Mutation_p.V273I|LYST_ENST00000389793.2_Missense_Mutation_p.V273I			Q99698	LYST_HUMAN	lysosomal trafficking regulator	273					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTCAAGGTAACGTCAAACTTA	0.403																																						dbGAP											0													34.0	35.0	35.0					1																	235973301		2203	4300	6503	-	-	-	SO:0001583	missense	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.817G>A	1.37:g.235973301C>T	ENSP00000374444:p.Val273Ile		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V273I	ENST00000389794.3	37	c.817	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	C	0	-2.739086	0.00088	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.68479	-0.33;-0.33;1.41	5.63	-0.972	0.10300	.	0.590982	0.18632	N	0.135548	T	0.21307	0.0513	N	0.00347	-1.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43147	-0.9409	10	0.02654	T	1	.	7.1798	0.25765	0.0:0.1243:0.3474:0.5284	.	273;273	Q99698-3;Q99698	.;LYST_HUMAN	I	273	ENSP00000374444:V273I;ENSP00000374443:V273I;ENSP00000438315:V273I	ENSP00000374443:V273I	V	-	1	0	LYST	234039924	1.000000	0.71417	0.275000	0.24674	0.117000	0.20001	1.083000	0.30815	-0.107000	0.12088	-1.246000	0.01523	GTT	LYST	-	NULL	ENSG00000143669		0.403	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	123	0.00	0	C			235973301	235973301	-1	no_errors	ENST00000389793	ensembl	human	known	69_37n	missense	74	44.36	59	SNP	0.476	T
MAGI1	9223	genome.wustl.edu	37	3	65361490	65361490	+	Silent	SNP	G	G	C			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr3:65361490G>C	ENST00000402939.2	-	18	3125	c.3126C>G	c.(3124-3126)tcC>tcG	p.S1042S	MAGI1_ENST00000330909.8_Silent_p.S1070S|MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000483466.1_Silent_p.S1071S	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1071	Interaction with FCHSD2.|PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TGTCTGAATGGGATTTGTTGG	0.478																																						dbGAP											0													251.0	210.0	224.0					3																	65361490		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.3126C>G	3.37:g.65361490G>C			A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,smart_PDZ,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.P951R	ENST00000402939.2	37	c.2852	CCDS33780.1	3	.	.	.	.	.	.	.	.	.	.	G	8.488	0.861246	0.17178	.	.	ENSG00000151276	ENST00000460329	.	.	.	6.02	4.09	0.47781	.	.	.	.	.	T	0.59824	0.2222	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57734	-0.7760	4	.	.	.	-20.9537	9.7274	0.40339	0.0:0.1117:0.3933:0.495	.	.	.	.	R	951	.	.	P	-	2	0	MAGI1	65336530	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	0.348000	0.20031	1.510000	0.48803	0.655000	0.94253	CCC	MAGI1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000151276		0.478	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349126.1	182	0.00	0	G	NM_004742		65361490	65361490	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000460329	ensembl	human	putative	69_37n	missense	64	31.18	29	SNP	1.000	C
MIB1	57534	genome.wustl.edu	37	18	19348649	19348649	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr18:19348649G>C	ENST00000261537.6	+	3	731	c.467G>C	c.(466-468)aGa>aCa	p.R156T	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	156	MIB/HERC2 2. {ECO:0000255|PROSITE- ProRule:PRU00749}.				blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GCAGGTGCCAGAGTGGTGCGA	0.393																																						dbGAP											0													69.0	67.0	68.0					18																	19348649		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.467G>C	18.37:g.19348649G>C	ENSP00000261537:p.Arg156Thr		B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ	p.R156T	ENST00000261537.6	37	c.467	CCDS11871.1	18	.	.	.	.	.	.	.	.	.	.	G	34	5.324414	0.95708	.	.	ENSG00000101752	ENST00000261537	T	0.39787	1.06	5.0	5.0	0.66597	Mib-herc2 (2);	0.000000	0.85682	D	0.000000	T	0.65852	0.2731	M	0.80616	2.505	0.80722	D	1	P	0.44877	0.845	P	0.59288	0.855	T	0.70960	-0.4730	10	0.87932	D	0	-14.02	18.3246	0.90250	0.0:0.0:1.0:0.0	.	156	Q86YT6	MIB1_HUMAN	T	156	ENSP00000261537:R156T	ENSP00000261537:R156T	R	+	2	0	MIB1	17602647	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.776000	0.99001	2.305000	0.77605	0.655000	0.94253	AGA	MIB1	-	pfam_Mib_Herc2	ENSG00000101752		0.393	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIB1	HGNC	protein_coding	OTTHUMT00000254675.1	41	0.00	0	G	NM_020774		19348649	19348649	+1	no_errors	ENST00000261537	ensembl	human	known	69_37n	missense	18	37.93	11	SNP	1.000	C
KMT2C	58508	genome.wustl.edu	37	7	151919733	151919733	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr7:151919733C>A	ENST00000262189.6	-	21	3576	c.3358G>T	c.(3358-3360)Gag>Tag	p.E1120*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.E1120*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1120					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACTTCTTCCTCAGTATTTAAG	0.338																																						dbGAP											0													57.0	46.0	50.0					7																	151919733		2201	4297	6498	-	-	-	SO:0001587	stop_gained	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3358G>T	7.37:g.151919733C>A	ENSP00000262189:p.Glu1120*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E1120*	ENST00000262189.6	37	c.3358	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	C	45	11.693212	0.99592	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.73	5.73	0.89815	.	0.000000	0.46758	D	0.000262	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8994	0.96980	0.0:1.0:0.0:0.0	.	.	.	.	X	1120	.	ENSP00000262189:E1120X	E	-	1	0	MLL3	151550666	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.342000	0.79310	2.703000	0.92315	0.650000	0.86243	GAG	MLL3	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000055609		0.338	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	91	0.00	0	C			151919733	151919733	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	nonsense	33	17.50	7	SNP	1.000	A
MMP13	4322	genome.wustl.edu	37	11	102822757	102822757	+	Silent	SNP	C	C	A			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr11:102822757C>A	ENST00000260302.3	-	5	811	c.783G>T	c.(781-783)ggG>ggT	p.G261G	MMP13_ENST00000340273.4_Silent_p.G261G	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	261					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	GAGACTGGATCCCTTGTACAT	0.413																																						dbGAP											0													246.0	246.0	246.0					11																	102822757		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.783G>T	11.37:g.102822757C>A			A8K846|B2RCZ3|Q6NWN6	Silent	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.G261	ENST00000260302.3	37	c.783	CCDS8324.1	11																																																																																			MMP13	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	ENSG00000137745		0.413	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MMP13	HGNC	protein_coding	OTTHUMT00000386648.1	453	0.00	0	C	NM_002427		102822757	102822757	-1	no_errors	ENST00000340273	ensembl	human	novel	69_37n	silent	421	12.63	61	SNP	0.981	A
MORC4	79710	genome.wustl.edu	37	X	106205310	106205310	+	Silent	SNP	G	G	T			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chrX:106205310G>T	ENST00000355610.4	-	10	1462	c.1188C>A	c.(1186-1188)ctC>ctA	p.L396L	MORC4_ENST00000255495.7_Silent_p.L396L|MORC4_ENST00000535534.1_Silent_p.L144L	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	396						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						AGTAAGCATTGAGCTTCTGGG	0.358																																						dbGAP											0													211.0	189.0	197.0					X																	106205310		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.1188C>A	X.37:g.106205310G>T			A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Silent	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Prefoldin,pfscan_Znf_CW	p.L396	ENST00000355610.4	37	c.1188	CCDS14525.2	X																																																																																			MORC4	-	NULL	ENSG00000133131		0.358	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MORC4	HGNC	protein_coding	OTTHUMT00000057816.3	297	0.00	0	G	NM_024657		106205310	106205310	-1	no_errors	ENST00000355610	ensembl	human	known	69_37n	silent	224	23.29	68	SNP	0.995	T
MYT1L	23040	genome.wustl.edu	37	2	1891341	1891341	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr2:1891341C>G	ENST00000399161.2	-	17	3308	c.2561G>C	c.(2560-2562)aGa>aCa	p.R854T	MYT1L_ENST00000428368.2_Missense_Mutation_p.R852T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	854					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|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(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGGATACCGTCTTTCTTCTAG	0.527																																						dbGAP											0													174.0	171.0	172.0					2																	1891341		1935	4133	6068	-	-	-	SO:0001583	missense	0			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2561G>C	2.37:g.1891341C>G	ENSP00000382114:p.Arg854Thr		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.R854T	ENST00000399161.2	37	c.2561		2	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456911	0.84317	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.49139	0.79;0.79	5.55	5.55	0.83447	Myelin transcription factor 1 (1);	0.047693	0.85682	D	0.000000	T	0.55162	0.1903	L	0.52126	1.63	0.80722	D	1	D;P	0.55172	0.97;0.902	P;B	0.51101	0.659;0.342	T	0.49679	-0.8914	10	0.33940	T	0.23	-28.8956	19.5067	0.95121	0.0:1.0:0.0:0.0	.	854;852	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	T	854;800;852	ENSP00000382114:R854T;ENSP00000396103:R852T	ENSP00000295067:R800T	R	-	2	0	MYT1L	1870348	1.000000	0.71417	0.991000	0.47740	0.866000	0.49608	7.424000	0.80242	2.609000	0.88269	0.650000	0.86243	AGA	MYT1L	-	pfam_Myelin_TF	ENSG00000186487		0.527	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	166	0.00	0	C	NM_015025		1891341	1891341	-1	no_errors	ENST00000399161	ensembl	human	known	69_37n	missense	104	13.33	16	SNP	0.993	G
NT5C1B	93034	genome.wustl.edu	37	2	18765887	18765887	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr2:18765887C>T	ENST00000359846.2	-	5	873	c.796G>A	c.(796-798)Gag>Aag	p.E266K	NT5C1B_ENST00000600945.1_Missense_Mutation_p.E266K|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.E266K|NT5C1B_ENST00000460052.1_5'Flank|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000304081.4_Missense_Mutation_p.E206K	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	266					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TGCTGCTGCTCGGACAGAGAG	0.652																																						dbGAP											0													18.0	20.0	19.0					2																	18765887		2202	4296	6498	-	-	-	SO:0001583	missense	0			AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.796G>A	2.37:g.18765887C>T	ENSP00000352904:p.Glu266Lys		B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	pfam_5-nucleotidase	p.E266K	ENST00000359846.2	37	c.796	CCDS33150.1	2	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760603	0.49468	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	D	0.89552	-2.53	4.34	3.44	0.39384	.	1.923890	0.02542	N	0.094695	D	0.84875	0.5569	N	0.24115	0.695	0.09310	N	0.999998	D;D;D;D;P;P;D;D;D	0.58970	0.984;0.984;0.966;0.984;0.814;0.837;0.98;0.966;0.98	B;B;B;B;B;B;B;B;B	0.42692	0.306;0.306;0.222;0.306;0.057;0.121;0.395;0.222;0.395	T	0.75156	-0.3417	10	0.35671	T	0.21	-17.1853	12.8755	0.57988	0.0:0.8353:0.1647:0.0	.	249;283;206;249;208;58;206;266;266	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-3;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;.;5NT1B_HUMAN;.	K	266;208;206;266	ENSP00000412639:E208K	ENSP00000305979:E206K	E	-	1	0	NT5C1B-RDH14;NT5C1B	18629368	0.000000	0.05858	0.157000	0.22605	0.007000	0.05969	0.315000	0.19451	1.121000	0.41925	-0.537000	0.04273	GAG	NT5C1B	-	NULL	ENSG00000185013		0.652	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NT5C1B	HGNC	protein_coding	OTTHUMT00000323822.1	27	0.00	0	C			18765887	18765887	-1	no_errors	ENST00000359846	ensembl	human	known	69_37n	missense	10	28.57	4	SNP	0.386	T
OR2G6	391211	genome.wustl.edu	37	1	248685560	248685560	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr1:248685560G>A	ENST00000343414.4	+	1	645	c.613G>A	c.(613-615)Gtc>Atc	p.V205I		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCCAGTGTAGTCTTTCTAAT	0.473																																						dbGAP											0													131.0	137.0	135.0					1																	248685560		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.613G>A	1.37:g.248685560G>A	ENSP00000341291:p.Val205Ile		B2RP33	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V205I	ENST00000343414.4	37	c.613	CCDS31119.1	1	.	.	.	.	.	.	.	.	.	.	N	0.205	-1.041117	0.02013	.	.	ENSG00000188558	ENST00000343414	T	0.37058	1.22	3.68	-5.5	0.02576	GPCR, rhodopsin-like superfamily (1);	0.570574	0.14389	N	0.322646	T	0.10723	0.0262	N	0.05280	-0.08	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.30297	-0.9983	10	0.02654	T	1	.	5.8486	0.18679	0.161:0.2279:0.6111:0.0	.	205	Q5TZ20	OR2G6_HUMAN	I	205	ENSP00000341291:V205I	ENSP00000341291:V205I	V	+	1	0	OR2G6	246752183	0.000000	0.05858	0.000000	0.03702	0.823000	0.46562	-2.616000	0.00881	-1.408000	0.02040	0.400000	0.26472	GTC	OR2G6	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000188558		0.473	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G6	HGNC	protein_coding	OTTHUMT00000097358.1	234	0.00	0	G	XM_372842		248685560	248685560	+1	no_errors	ENST00000343414	ensembl	human	known	69_37n	missense	203	15.06	36	SNP	0.000	A
OR4D10	390197	genome.wustl.edu	37	11	59245266	59245266	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr11:59245266C>T	ENST00000530162.1	+	1	421	c.364C>T	c.(364-366)Cga>Tga	p.R122*		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGCATTGGATCGATATGTGGC	0.483																																						dbGAP											0													86.0	87.0	87.0					11																	59245266		2190	4292	6482	-	-	-	SO:0001587	stop_gained	0			AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.364C>T	11.37:g.59245266C>T	ENSP00000436424:p.Arg122*		B2RNH6	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R122*	ENST00000530162.1	37	c.364	CCDS53636.1	11	.	.	.	.	.	.	.	.	.	.	C	10.93	1.490552	0.26686	.	.	ENSG00000254466	ENST00000530162	.	.	.	4.71	0.431	0.16523	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.9804	0.09492	0.2595:0.4115:0.253:0.076	.	.	.	.	X	122	.	ENSP00000436424:R122X	R	+	1	2	OR4D10	59001842	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.143000	0.10296	-0.114000	0.11936	-0.182000	0.12963	CGA	OR4D10	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000254466		0.483	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D10	HGNC	protein_coding	OTTHUMT00000394235.1	265	0.38	1	C	NM_001004705		59245266	59245266	+1	no_errors	ENST00000530162	ensembl	human	known	69_37n	nonsense	143	22.70	42	SNP	0.463	T
PGLYRP3	114771	genome.wustl.edu	37	1	153274985	153274985	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr1:153274985C>T	ENST00000290722.1	-	5	680	c.628G>A	c.(628-630)Gct>Act	p.A210T		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	210					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTTGTGCCAGCGGTGTGGATG	0.483																																						dbGAP											0													282.0	257.0	265.0					1																	153274985		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I alpha precursor"""	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.628G>A	1.37:g.153274985C>T	ENSP00000290722:p.Ala210Thr		A1A4U8|Q5SY65	Missense_Mutation	SNP	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.A210T	ENST00000290722.1	37	c.628	CCDS1035.1	1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.737580	0.30774	.	.	ENSG00000159527	ENST00000290722	T	0.18016	2.24	4.49	2.56	0.30785	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.531036	0.16030	N	0.232912	T	0.05593	0.0147	L	0.57130	1.785	0.09310	N	1	P	0.37276	0.589	B	0.26517	0.07	T	0.17501	-1.0367	10	0.46703	T	0.11	-31.5141	9.46	0.38778	0.3864:0.6136:0.0:0.0	.	210	Q96LB9	PGRP3_HUMAN	T	210	ENSP00000290722:A210T	ENSP00000290722:A210T	A	-	1	0	PGLYRP3	151541609	0.004000	0.15560	0.001000	0.08648	0.135000	0.20990	1.261000	0.32980	0.498000	0.27948	-0.182000	0.12963	GCT	PGLYRP3	-	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	ENSG00000159527		0.483	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP3	HGNC	protein_coding	OTTHUMT00000039488.1	181	0.00	0	C	NM_052891		153274985	153274985	-1	no_errors	ENST00000290722	ensembl	human	known	69_37n	missense	54	38.64	34	SNP	0.001	T
PLD5	200150	genome.wustl.edu	37	1	242253277	242253277	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr1:242253277G>A	ENST00000536534.2	-	10	1731	c.1490C>T	c.(1489-1491)cCg>cTg	p.P497L	PLD5_ENST00000427495.1_Missense_Mutation_p.P435L|PLD5_ENST00000442594.2_Missense_Mutation_p.P405L			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	497						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TTTGGCATACGGTGAATACCA	0.478																																						dbGAP											0													283.0	257.0	266.0					1																	242253277		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1490C>T	1.37:g.242253277G>A	ENSP00000440896:p.Pro497Leu		A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	smart_PLipase_D/transphosphatidylase	p.P497L	ENST00000536534.2	37	c.1490	CCDS1621.2	1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768777	0.31320	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.20881	2.04;2.04;2.04	5.77	2.86	0.33363	.	0.262519	0.38381	N	0.001701	T	0.23572	0.0570	M	0.82323	2.585	0.50171	D	0.999858	P;P;P	0.51791	0.948;0.913;0.89	B;B;B	0.42112	0.376;0.208;0.29	T	0.05616	-1.0874	10	0.54805	T	0.06	-5.928	3.0305	0.06105	0.1511:0.1203:0.5536:0.1749	.	405;497;435	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	L	435;405;497	ENSP00000401285:P435L;ENSP00000414188:P405L;ENSP00000440896:P497L	ENSP00000401285:P435L	P	-	2	0	PLD5	240319900	0.998000	0.40836	0.668000	0.29813	0.963000	0.63663	2.244000	0.43124	0.787000	0.33731	-0.136000	0.14681	CCG	PLD5	-	NULL	ENSG00000180287		0.478	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD5	HGNC	protein_coding	OTTHUMT00000397213.2	452	0.00	0	G	NM_152666		242253277	242253277	-1	no_errors	ENST00000536534	ensembl	human	known	69_37n	missense	238	45.03	195	SNP	0.973	A
PPP2R1A	5518	genome.wustl.edu	37	19	52729060	52729060	+	Splice_Site	SNP	T	T	G			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr19:52729060T>G	ENST00000322088.6	+	14	1810	c.1752T>G	c.(1750-1752)acT>acG	p.T584T	PPP2R1A_ENST00000444322.2_Splice_Site_p.T529T|CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000462990.1_Splice_Site_p.T405T|CTD-2525I3.3_ENST00000599125.1_RNA	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	584	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		AGGCTCTGACTGGTAAGACCT	0.582			Mis		clear cell ovarian carcinoma																																	dbGAP		Dom?	yes		19	19q13.41	5518	"""protein phosphatase 2, regulatory subunit A, alpha"""		E	0													155.0	145.0	148.0					19																	52729060		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1753+1T>G	19.37:g.52729060T>G			Q13773|Q6ICQ3|Q96DH3	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.T584	ENST00000322088.6	37	c.1752	CCDS12849.1	19																																																																																			PPP2R1A	-	superfamily_ARM-type_fold,pfscan_HEAT_type_2	ENSG00000105568		0.582	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R1A	HGNC	protein_coding	OTTHUMT00000267967.2	167	0.60	1	T	NM_014225	Silent	52729060	52729060	+1	no_errors	ENST00000322088	ensembl	human	known	69_37n	silent	78	44.37	63	SNP	1.000	G
SLC6A4	6532	genome.wustl.edu	37	17	28545924	28545924	+	Silent	SNP	G	G	A			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr17:28545924G>A	ENST00000401766.2	-	3	881	c.369C>T	c.(367-369)atC>atT	p.I123I	SLC6A4_ENST00000261707.3_Silent_p.I123I			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	123					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	AAATGGCCATGATGGTGTAGG	0.517																																						dbGAP											0													114.0	107.0	109.0					17																	28545924		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.369C>T	17.37:g.28545924G>A			Q5EE02	Silent	SNP	pfam_Na/ntran_symport,pfam_Na/ntran_symport_serotonin_N,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_serotonin_N	p.I123	ENST00000401766.2	37	c.369	CCDS11256.1	17																																																																																			SLC6A4	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000108576		0.517	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A4	HGNC	protein_coding	OTTHUMT00000256115.3	184	0.00	0	G	NM_001045		28545924	28545924	-1	no_errors	ENST00000261707	ensembl	human	known	69_37n	silent	146	18.78	34	SNP	1.000	A
SNAP25	6616	genome.wustl.edu	37	20	10277623	10277623	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr20:10277623G>C	ENST00000254976.2	+	6	543	c.332G>C	c.(331-333)gGa>gCa	p.G111A	SNAP25_ENST00000304886.2_Missense_Mutation_p.G111A|SNAP25_ENST00000495883.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	111					energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)			endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	AATCAGGACGGAGTGGTGGCC	0.552																																						dbGAP											0													79.0	75.0	77.0					20																	10277623		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"""resistance to inhibitors of cholinesterase 4 homolog"""	600322	"""synaptosomal-associated protein, 25kD"""	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.332G>C	20.37:g.10277623G>C	ENSP00000254976:p.Gly111Ala		B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_SNAP-25,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.G111A	ENST00000254976.2	37	c.332	CCDS13110.1	20	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140691	0.56936	.	.	ENSG00000132639	ENST00000254976;ENST00000304886	.	.	.	5.86	5.86	0.93980	SNAP-25 (1);	0.000000	0.85682	D	0.000000	T	0.76097	0.3940	M	0.87381	2.88	0.80722	D	1	P;P	0.51351	0.944;0.906	P;P	0.50617	0.599;0.646	T	0.74185	-0.3747	9	0.23302	T	0.38	-6.9233	20.1996	0.98256	0.0:0.0:1.0:0.0	.	111;111	P60880-2;P60880	.;SNP25_HUMAN	A	111	.	ENSP00000254976:G111A	G	+	2	0	SNAP25	10225623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.776000	0.95493	0.650000	0.86243	GGA	SNAP25	-	pfam_SNAP-25	ENSG00000132639		0.552	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SNAP25	HGNC	protein_coding	OTTHUMT00000077976.3	62	0.00	0	G	NM_130811		10277623	10277623	+1	no_errors	ENST00000254976	ensembl	human	known	69_37n	missense	41	14.58	7	SNP	1.000	C
SQLE	6713	genome.wustl.edu	37	8	126021464	126021464	+	Silent	SNP	G	G	C	rs372124586		TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr8:126021464G>C	ENST00000265896.5	+	6	1885	c.987G>C	c.(985-987)ccG>ccC	p.P329P	SQLE_ENST00000523430.1_Silent_p.P234P	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	329					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TAGCTAACCCGAGTCCAGTTC	0.318																																						dbGAP											0													90.0	86.0	87.0					8																	126021464		1819	4078	5897	-	-	-	SO:0001819	synonymous_variant	0			D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"""squalene monooxygenase"""	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.987G>C	8.37:g.126021464G>C			Q9UEK6	Silent	SNP	pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Rng_hydrolase-like	p.P329	ENST00000265896.5	37	c.987	CCDS47918.1	8																																																																																			SQLE	-	pfam_Squalene_epoxidase,pfam_mOase_FAD-bd	ENSG00000104549		0.318	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SQLE	HGNC	protein_coding	OTTHUMT00000381362.1	186	0.00	0	G	NM_003129		126021464	126021464	+1	no_errors	ENST00000265896	ensembl	human	known	69_37n	silent	172	24.89	57	SNP	0.044	C
TREML1	340205	genome.wustl.edu	37	6	41121613	41121613	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr6:41121613G>T	ENST00000426005.2	-	2	302	c.259C>A	c.(259-261)Ctg>Atg	p.L87M	TREML1_ENST00000373127.4_Missense_Mutation_p.L87M|TREML1_ENST00000437044.2_Intron	NM_178174.2	NP_835468.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	87	Ig-like V-type.				calcium-mediated signaling (GO:0019722)|innate immune response (GO:0045087)|platelet activation (GO:0030168)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCCACCTGCAGCAGGCCCCCA	0.627																																						dbGAP											0													45.0	50.0	48.0					6																	41121613		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF534822	CCDS4851.1, CCDS64420.1, CCDS64421.1	6p21.1	2013-01-11			ENSG00000161911	ENSG00000161911		"""Immunoglobulin superfamily / V-set domain containing"""	20434	protein-coding gene	gene with protein product	"""TREM-like transcript 1"""	609714				12393607, 12645956	Standard	NM_178174		Approved	TLT1, dJ238O23.3	uc011duc.3	Q86YW5	OTTHUMG00000016231	ENST00000426005.2:c.259C>A	6.37:g.41121613G>T	ENSP00000402855:p.Leu87Met		Q496B3|Q8IWY1|Q8IWY2	Missense_Mutation	SNP	pfam_Ig_V-set	p.L87M	ENST00000426005.2	37	c.259	CCDS4851.1	6	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542479	0.65198	.	.	ENSG00000161911	ENST00000373127;ENST00000426005	T;T	0.68479	-0.33;-0.33	5.97	4.1	0.47936	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.136539	0.34046	N	0.004313	T	0.69575	0.3126	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	0.986;1.0	D;D	0.74674	0.954;0.984	T	0.70400	-0.4882	10	0.35671	T	0.21	.	7.2043	0.25899	0.0846:0.0:0.7492:0.1662	.	87;87	Q86YW5;Q86YW5-2	TRML1_HUMAN;.	M	87	ENSP00000362219:L87M;ENSP00000402855:L87M	ENSP00000362219:L87M	L	-	1	2	TREML1	41229591	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	1.579000	0.36536	1.537000	0.49254	0.655000	0.94253	CTG	TREML1	-	pfam_Ig_V-set	ENSG00000161911		0.627	TREML1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TREML1	HGNC	protein_coding	OTTHUMT00000043538.2	69	0.00	0	G	NM_178174		41121613	41121613	-1	no_errors	ENST00000426005	ensembl	human	known	69_37n	missense	26	13.33	4	SNP	1.000	T
TRIM5	85363	genome.wustl.edu	37	11	5686165	5686165	+	Silent	SNP	G	G	A			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr11:5686165G>A	ENST00000380034.3	-	8	1612	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000305836.5_Silent_p.F452F	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	452	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TTGTGATATTGAAGAATGAGA	0.388																																						dbGAP											0													88.0	85.0	86.0					11																	5686165		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.1356C>T	11.37:g.5686165G>A			A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.F452	ENST00000380034.3	37	c.1356	CCDS31393.1	11																																																																																			TRIM5	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000132256		0.388	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM5	HGNC	protein_coding	OTTHUMT00000143360.3	247	0.00	0	G	NM_033034		5686165	5686165	-1	no_errors	ENST00000305836	ensembl	human	known	69_37n	silent	219	21.22	59	SNP	0.923	A
TTN	7273	genome.wustl.edu	37	2	179466427	179466427	+	Missense_Mutation	SNP	T	T	C	rs565100137		TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr2:179466427T>C	ENST00000591111.1	-	236	50691	c.50467A>G	c.(50467-50469)Aaa>Gaa	p.K16823E	TTN_ENST00000342175.6_Missense_Mutation_p.K9591E|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K15896E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K9524E|TTN_ENST00000460472.2_Missense_Mutation_p.K9399E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K18464E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16823	Ig-like 101.				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)			TGTCCTGCTTTATTCTTGGCT	0.348																																						dbGAP											0													148.0	134.0	138.0					2																	179466427		1864	4095	5959	-	-	-	SO:0001583	missense	0			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.50467A>G	2.37:g.179466427T>C	ENSP00000465570:p.Lys16823Glu		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.K15896E	ENST00000591111.1	37	c.47686		2	.	.	.	.	.	.	.	.	.	.	T	14.24	2.476506	0.44044	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.74	5.74	0.90152	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67325	0.2881	N	0.16478	0.41	0.46901	D	0.999243	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.73177	-0.4065	9	0.87932	D	0	.	16.0217	0.80503	0.0:0.0:0.0:1.0	.	9399;9524;9591;16823	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	15896;9399;9591;9524;9399	ENSP00000343764:K15896E;ENSP00000434586:K9399E;ENSP00000340554:K9591E;ENSP00000352154:K9524E	ENSP00000340554:K9591E	K	-	1	0	TTN	179174672	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.816000	0.69222	2.179000	0.69175	0.460000	0.39030	AAA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like	ENSG00000155657		0.348	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	251	0.00	0	T	NM_133378		179466427	179466427	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	139	24.04	44	SNP	1.000	C
UNC79	57578	genome.wustl.edu	37	14	94060170	94060170	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr14:94060170G>A	ENST00000393151.2	+	23	3177	c.3177G>A	c.(3175-3177)atG>atA	p.M1059I	UNC79_ENST00000555664.1_Missense_Mutation_p.M1059I|UNC79_ENST00000256339.4_Missense_Mutation_p.M882I|UNC79_ENST00000553484.1_Missense_Mutation_p.M1059I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1059					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACTGGAAGATGAGGTTTGAAG	0.473																																						dbGAP											0													146.0	128.0	134.0					14																	94060170		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3177G>A	14.37:g.94060170G>A	ENSP00000376858:p.Met1059Ile		B5MDL6|Q6ZUT7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.M1059I	ENST00000393151.2	37	c.3177		14	.	.	.	.	.	.	.	.	.	.	G	11.74	1.729203	0.30684	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.77	5.77	0.91146	.	0.041750	0.85682	D	0.000000	T	0.16171	0.0389	N	0.03608	-0.345	0.38237	D	0.941206	B	0.02656	0.0	B	0.04013	0.001	T	0.12451	-1.0547	10	0.31617	T	0.26	-25.4607	15.5692	0.76320	0.0:0.0:0.8616:0.1384	.	1059	C9JQL1	.	I	882;1059;1059;1059;1059	ENSP00000256339:M882I;ENSP00000450868:M1059I;ENSP00000451360:M1059I;ENSP00000376858:M1059I	ENSP00000256339:M882I	M	+	3	0	KIAA1409	93129923	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.423000	0.44705	2.733000	0.93635	0.557000	0.71058	ATG	UNC79	-	superfamily_ARM-type_fold	ENSG00000133958		0.473	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	220	0.00	0	G	XM_028395		94060170	94060170	+1	no_errors	ENST00000553484	ensembl	human	known	69_37n	missense	116	35.36	64	SNP	1.000	A
VWCE	220001	genome.wustl.edu	37	11	61044093	61044094	+	Frame_Shift_Ins	INS	-	-	G	rs141301435		TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr11:61044093_61044094insG	ENST00000335613.5	-	11	1852_1853	c.1466_1467insC	c.(1465-1467)ccafs	p.P489fs	VWCE_ENST00000535710.1_5'Flank	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	489	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AATCCGTCTGTGGGGGGGTCTG	0.51																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1467dupC	11.37:g.61044100_61044100dupG	ENSP00000334186:p.Pro489fs		A5PKV0|Q7Z7L6|Q86WK8	Frame_Shift_Ins	INS	pfam_VWF_C,pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C	p.Q490fs	ENST00000335613.5	37	c.1467_1466	CCDS8002.1	11																																																																																			VWCE	-	smart_VWC_out,smart_VWF_C	ENSG00000167992		0.510	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWCE	HGNC	protein_coding	OTTHUMT00000398811.1	21	0.00	0	-	NM_152718		61044093	61044094	-1	no_errors	ENST00000335613	ensembl	human	known	69_37n	frame_shift_ins	8	20.00	2	INS	0.003:0.008	G
WFDC5	149708	genome.wustl.edu	37	20	43739335	43739335	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr20:43739335G>A	ENST00000307971.4	-	2	245	c.167C>T	c.(166-168)cCc>cTc	p.P56L	WFDC5_ENST00000372789.4_Missense_Mutation_p.P56L			Q8TCV5	WFDC5_HUMAN	WAP four-disulfide core domain 5	56	WAP 1. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				CCTGGTCAAGGGACACTGGCT	0.592																																					NSCLC(199;98 2227 9943 13455 41914)	dbGAP											0													75.0	63.0	67.0					20																	43739335		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY038181	CCDS33475.1	20q13.11	2013-01-21			ENSG00000175121	ENSG00000175121		"""WAP four-disulfide core domain containing"""	20477	protein-coding gene	gene with protein product		605161				12206714, 10680116	Standard	NM_145652		Approved	WAP1, dJ211D12.5	uc002xne.2	Q8TCV5	OTTHUMG00000046411	ENST00000307971.4:c.167C>T	20.37:g.43739335G>A	ENSP00000312381:p.Pro56Leu		Q5H981|Q6UWE4	Missense_Mutation	SNP	pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,prints_4-disulphide_core	p.P56L	ENST00000307971.4	37	c.167		20	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511504	0.85389	.	.	ENSG00000175121	ENST00000372789;ENST00000307971	T;T	0.75050	-0.9;-0.9	5.24	5.24	0.73138	Whey acidic protein, 4-disulphide core (5);	0.000000	0.53938	D	0.000053	D	0.85630	0.5741	M	0.77486	2.375	0.48236	D	0.999615	D	0.89917	1.0	D	0.91635	0.999	D	0.86648	0.1896	10	0.56958	D	0.05	-32.2088	14.3199	0.66479	0.0:0.0:1.0:0.0	.	56	Q8TCV5	WFDC5_HUMAN	L	56	ENSP00000361875:P56L;ENSP00000312381:P56L	ENSP00000312381:P56L	P	-	2	0	WFDC5	43172749	0.999000	0.42202	0.982000	0.44146	0.941000	0.58515	4.533000	0.60615	2.450000	0.82876	0.585000	0.79938	CCC	WFDC5	-	pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core	ENSG00000175121		0.592	WFDC5-002	KNOWN	not_organism_supported|basic	protein_coding	WFDC5	HGNC	protein_coding	OTTHUMT00000107192.1	48	0.00	0	G			43739335	43739335	-1	no_errors	ENST00000307971	ensembl	human	known	69_37n	missense	20	35.48	11	SNP	0.983	A
ZNF572	137209	genome.wustl.edu	37	8	125989495	125989495	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr8:125989495C>G	ENST00000319286.5	+	3	1139	c.985C>G	c.(985-987)Caa>Gaa	p.Q329E		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	329					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.Q329E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AAAGCCTTATCAATGTCCAGA	0.358										HNSCC(60;0.17)																												dbGAP											1	Substitution - Missense(1)	lung(1)											53.0	56.0	55.0					8																	125989495		2203	4299	6502	-	-	-	SO:0001583	missense	0			BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.985C>G	8.37:g.125989495C>G	ENSP00000319305:p.Gln329Glu		A1L4F1|Q8N1Q0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q329E	ENST00000319286.5	37	c.985	CCDS6354.1	8	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.919993	0.00498	.	.	ENSG00000180938	ENST00000319286	T	0.35789	1.29	4.85	1.75	0.24633	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.800484	0.10859	N	0.626307	T	0.17066	0.0410	N	0.17594	0.5	0.09310	N	1	B	0.12013	0.005	B	0.16722	0.016	T	0.33189	-0.9878	10	0.02654	T	1	-3.6027	5.5821	0.17254	0.4727:0.4285:0.0:0.0988	.	329	Q7Z3I7	ZN572_HUMAN	E	329	ENSP00000319305:Q329E	ENSP00000319305:Q329E	Q	+	1	0	ZNF572	126058676	0.000000	0.05858	0.067000	0.19924	0.961000	0.63080	-1.029000	0.03585	0.631000	0.30412	0.655000	0.94253	CAA	ZNF572	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180938		0.358	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF572	HGNC	protein_coding	OTTHUMT00000381359.1	176	0.00	0	C	NM_152412		125989495	125989495	+1	no_errors	ENST00000319286	ensembl	human	known	69_37n	missense	233	26.65	85	SNP	0.000	G
ZNF587	84914	genome.wustl.edu	37	19	58370864	58370864	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr19:58370864C>T	ENST00000339656.5	+	3	1266	c.1084C>T	c.(1084-1086)Cgt>Tgt	p.R362C	ZNF814_ENST00000597652.1_5'Flank|ZNF587_ENST00000423137.1_Missense_Mutation_p.R361C|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.R319C|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	362					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(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		GAAATCTTTTCGTCAGAAGTT	0.438																																					Pancreas(59;641 1233 1885 20055 50741)	dbGAP											0													74.0	86.0	82.0					19																	58370864		2203	4292	6495	-	-	-	SO:0001583	missense	0			AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1084C>T	19.37:g.58370864C>T	ENSP00000345479:p.Arg362Cys		A0AV72|G3V0H5|Q6ZMK8	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.R362C	ENST00000339656.5	37	c.1084	CCDS12964.1	19	.	.	.	.	.	.	.	.	.	.	.	4.520	0.096585	0.08681	.	.	ENSG00000198466	ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854	T;T;T	0.18502	2.21;2.21;2.21	1.76	0.607	0.17564	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14184	0.0343	L	0.48218	1.51	0.22684	N	0.998858	B;P	0.39311	0.003;0.667	B;B	0.38921	0.006;0.285	T	0.15235	-1.0444	8	0.49607	T	0.09	.	5.6797	0.17769	0.7112:0.2887:0.0:0.0	.	361;362	G3V0H5;Q96SQ5	.;ZN587_HUMAN	C	319;361;362;362;319	ENSP00000393865:R361C;ENSP00000345479:R362C;ENSP00000406999:R319C	ENSP00000345479:R362C	R	+	1	0	ZNF587	63062676	.	.	0.012000	0.15200	0.055000	0.15305	.	.	-0.059000	0.13154	0.195000	0.17529	CGT	ZNF587	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198466		0.438	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF587	HGNC	protein_coding	OTTHUMT00000337594.2	432	0.00	0	C	NM_032828		58370864	58370864	+1	no_errors	ENST00000339656	ensembl	human	known	69_37n	missense	464	12.55	67	SNP	0.126	T
ZNF620	253639	genome.wustl.edu	37	3	40557522	40557522	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AO-A0JE-01A-11W-A071-09	TCGA-AO-A0JE-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4f311714-ebb4-47fb-b471-62c6951d9066	f08265fa-cf7d-4d5b-a516-a319b0595cc1	g.chr3:40557522C>G	ENST00000314529.6	+	5	586	c.437C>G	c.(436-438)tCa>tGa	p.S146*	ZNF620_ENST00000418905.1_Nonsense_Mutation_p.S32*	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	146					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)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		AAGACAAAGTCAAAGAGGAGA	0.473																																						dbGAP											0													37.0	37.0	37.0					3																	40557522		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK093599	CCDS33740.1, CCDS58825.1	3p21.33	2013-01-08			ENSG00000177842	ENSG00000177842		"""Zinc fingers, C2H2-type"", ""-"""	28742	protein-coding gene	gene with protein product						12477932	Standard	NM_175888		Approved	MGC50836	uc003ckk.4	Q6ZNG0	OTTHUMG00000156044	ENST00000314529.6:c.437C>G	3.37:g.40557522C>G	ENSP00000322265:p.Ser146*		Q8N223	Nonsense_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.S146*	ENST00000314529.6	37	c.437	CCDS33740.1	3	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557354	0.45590	.	.	ENSG00000177842	ENST00000314529;ENST00000418905	.	.	.	2.16	1.1	0.20463	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9265	0.19114	0.0:0.666:0.334:0.0	.	.	.	.	X	146;32	.	.	S	+	2	0	ZNF620	40532526	0.000000	0.05858	0.193000	0.23327	0.163000	0.22366	0.041000	0.13927	1.230000	0.43646	0.467000	0.42956	TCA	ZNF620	-	NULL	ENSG00000177842		0.473	ZNF620-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF620	HGNC	protein_coding	OTTHUMT00000342824.1	86	0.00	0	C	XM_171060		40557522	40557522	+1	no_errors	ENST00000314529	ensembl	human	known	69_37n	nonsense	45	25.00	15	SNP	0.025	G
