#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ZNF721	170960	genome.wustl.edu	37	4	420831	420831	+	3'UTR	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:420831G>C	ENST00000506646.1	-	0	681				ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721						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)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TGGTTTTATTGACTTCATTTA	0.323																																																	0																																										SO:0001624	3_prime_UTR_variant	79963			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000506646.1:c.*124C>G	4.37:g.420831G>C			Q69YG7	RNA	SNP	-	NULL	ENST00000506646.1	37	NULL		4																																																																																			ABCA11P	-	-		0.323	ZNF721-003	PUTATIVE	basic	protein_coding	ABCA11P	HGNC	protein_coding	OTTHUMT00000357869.2	G	NM_133474		420831	-1	no_errors	ENST00000507854	ensembl	human	known	70_37	rna	SNP	0.308	C
ABCA12	26154	genome.wustl.edu	37	2	215843622	215843622	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:215843622G>A	ENST00000272895.7	-	32	5102	c.4883C>T	c.(4882-4884)tCa>tTa	p.S1628L	ABCA12_ENST00000389661.4_Missense_Mutation_p.S1310L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1628					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTAGGCCCCTGAGACTTTGGT	0.527																																					Ovarian(66;664 1488 5121 34295)												0													164.0	143.0	150.0					2																	215843622		2203	4300	6503	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4883C>T	2.37:g.215843622G>A	ENSP00000272895:p.Ser1628Leu		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S1628L	ENST00000272895.7	37	c.4883	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278420	0.80692	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.82893	-1.66;-1.66	5.36	5.36	0.76844	.	0.000000	0.56097	D	0.000025	D	0.90232	0.6946	M	0.69523	2.12	0.80722	D	1	D;D	0.76494	0.999;0.984	D;P	0.63877	0.919;0.883	D	0.90809	0.4700	10	0.72032	D	0.01	.	19.4492	0.94860	0.0:0.0:1.0:0.0	.	1628;1310	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	L	1628;1310	ENSP00000272895:S1628L;ENSP00000374312:S1310L	ENSP00000272895:S1628L	S	-	2	0	ABCA12	215551867	1.000000	0.71417	0.995000	0.50966	0.755000	0.42902	6.212000	0.72188	2.669000	0.90835	0.655000	0.94253	TCA	ABCA12	-	NULL		0.527	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	G	NM_173076		215843622	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	missense	SNP	0.998	A
ABCA12	26154	genome.wustl.edu	37	2	215884458	215884458	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:215884458C>T	ENST00000272895.7	-	12	1569	c.1350G>A	c.(1348-1350)gaG>gaA	p.E450E	AC072062.3_ENST00000602182.1_RNA|AC072062.3_ENST00000419251.1_RNA|AC072062.3_ENST00000595058.1_RNA|ABCA12_ENST00000389661.4_Silent_p.E132E|AC072062.3_ENST00000437897.3_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	450					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGCATGACTTCTCTATCAAAC	0.438																																					Ovarian(66;664 1488 5121 34295)												0													51.0	52.0	51.0					2																	215884458		2203	4300	6503	SO:0001819	synonymous_variant	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1350G>A	2.37:g.215884458C>T			Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E450	ENST00000272895.7	37	c.1350	CCDS33372.1	2																																																																																			ABCA12	-	NULL		0.438	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	C	NM_173076		215884458	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	silent	SNP	0.003	T
ABCB7	22	genome.wustl.edu	37	X	74282251	74282251	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:74282251C>T	ENST00000373394.3	-	14	1854	c.1847G>A	c.(1846-1848)aGa>aAa	p.R616K	ABCB7_ENST00000534570.1_5'Flank|ABCB7_ENST00000339447.4_Missense_Mutation_p.R576K|ABCB7_ENST00000253577.3_Missense_Mutation_p.R617K			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	616	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						AATTGCTACTCTTTGCTTTTC	0.368																																																	0													101.0	89.0	93.0					X																	74282251		2203	4300	6503	SO:0001583	missense	22			AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1847G>A	X.37:g.74282251C>T	ENSP00000362492:p.Arg616Lys		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.R617K	ENST00000373394.3	37	c.1850		X	.	.	.	.	.	.	.	.	.	.	C	27.4	4.832111	0.91036	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44	5.32	5.32	0.75619	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.92590	0.7646	L	0.48935	1.535	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.995;0.999;1.0;0.999	D;D;D;D;D	0.87578	0.998;0.978;0.991;0.998;0.991	D	0.93488	0.6833	10	0.87932	D	0	-18.4049	16.9284	0.86183	0.0:1.0:0.0:0.0	.	590;576;617;616;617	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	K	590;617;576;616;590	ENSP00000253577:R617K;ENSP00000343849:R576K;ENSP00000362492:R616K;ENSP00000436586:R590K	ENSP00000253577:R617K	R	-	2	0	ABCB7	74198976	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.372000	0.79612	2.204000	0.70986	0.594000	0.82650	AGA	ABCB7	-	pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.368	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	ABCB7	HGNC	protein_coding	OTTHUMT00000057274.1	C	NM_004299		74282251	-1	no_errors	ENST00000253577	ensembl	human	known	70_37	missense	SNP	1.000	T
ABCG4	64137	genome.wustl.edu	37	11	119025602	119025602	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:119025602C>T	ENST00000449422.2	+	6	851	c.663C>T	c.(661-663)gtC>gtT	p.V221V	ABCG4_ENST00000307417.3_Silent_p.V221V|ABCG4_ENST00000531739.1_Silent_p.V221V	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	221	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		ACCCGCCTGTCATGTTCTTTG	0.622																																																	0													161.0	150.0	154.0					11																	119025602		2200	4295	6495	SO:0001819	synonymous_variant	64137			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.663C>T	11.37:g.119025602C>T			A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.V221	ENST00000449422.2	37	c.663	CCDS8415.1	11																																																																																			ABCG4	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.622	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ABCG4	HGNC	protein_coding	OTTHUMT00000388215.1	C	NM_022169		119025602	+1	no_errors	ENST00000307417	ensembl	human	known	70_37	silent	SNP	1.000	T
ACAN	176	genome.wustl.edu	37	15	89386861	89386861	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr15:89386861G>A	ENST00000561243.1	+	5	1033	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	ACAN_ENST00000558207.1_Missense_Mutation_p.D345N|ACAN_ENST00000352105.7_Missense_Mutation_p.D345N|ACAN_ENST00000439576.2_Missense_Mutation_p.D345N|ACAN_ENST00000559004.1_Missense_Mutation_p.D345N			P16112	PGCA_HUMAN	aggrecan	345	G1-B'.|Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ATCCCGCTACGACGCCATCTG	0.632																																																	0													50.0	53.0	52.0					15																	89386861		2018	4168	6186	SO:0001583	missense	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1033G>A	15.37:g.89386861G>A	ENSP00000453342:p.Asp345Asn		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.D345N	ENST00000561243.1	37	c.1033	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	G	22.8	4.330888	0.81690	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.15603	2.41;2.41	5.56	5.56	0.83823	.	0.000000	0.34507	N	0.003916	T	0.48768	0.1518	M	0.86097	2.795	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.965	T	0.50742	-0.8792	10	0.52906	T	0.07	-29.1238	18.5257	0.90971	0.0:0.0:1.0:0.0	.	345;345;345	E7ENV9;E7EX88;Q6PID9	.;.;.	N	345	ENSP00000387356:D345N;ENSP00000341615:D345N	ENSP00000268134:D345N	D	+	1	0	ACAN	87187865	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	9.653000	0.98506	2.626000	0.88956	0.650000	0.86243	GAC	ACAN	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link		0.632	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	G	NM_001135		89386861	+1	no_errors	ENST00000439576	ensembl	human	known	70_37	missense	SNP	1.000	A
ACP1	52	genome.wustl.edu	37	2	277245	277245	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:277245G>C	ENST00000272065.5	+	6	511	c.418G>C	c.(418-420)Gag>Cag	p.E140Q	ACP1_ENST00000272067.6_Missense_Mutation_p.E140Q|ACP1_ENST00000484464.1_3'UTR	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	140						cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	Adenine(DB00173)	CTCTGACTTTGAGACGGTGTA	0.483																																																	0													149.0	145.0	146.0					2																	277245		2203	4300	6503	SO:0001583	missense	52			M87546	CCDS1639.1, CCDS1640.1, CCDS46217.1	2p25	2011-06-09			ENSG00000143727	ENSG00000143727	3.1.3.2	"""Protein tyrosine phosphatases / Class II Cys-based PTPs"""	122	protein-coding gene	gene with protein product		171500					Standard	NM_001040649		Approved		uc002qwf.3	P24666	OTTHUMG00000086933	ENST00000272065.5:c.418G>C	2.37:g.277245G>C	ENSP00000272065:p.Glu140Gln		A8K1L9|B5MCC7|P24667|Q16035|Q16036|Q16725|Q3KQX8|Q53RU0	Missense_Mutation	SNP	pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF,prints_Tyr_Pase_low_mol_wt_mml,prints_Tyr_phospatase/Ars_reductase	p.E140Q	ENST00000272065.5	37	c.418	CCDS1639.1	2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593230	0.86953	.	.	ENSG00000143727	ENST00000272067;ENST00000272065	T;T	0.33216	1.42;1.42	5.62	5.62	0.85841	Phosphotyrosine protein phosphatase I superfamily (3);	0.000000	0.85682	D	0.000000	T	0.56292	0.1975	M	0.74389	2.26	0.80722	D	1	D;D	0.69078	0.997;0.984	D;P	0.68621	0.959;0.888	T	0.57619	-0.7780	10	0.59425	D	0.04	-14.7488	17.1625	0.86807	0.0:0.0:1.0:0.0	.	140;140	P24666-2;P24666	.;PPAC_HUMAN	Q	140	ENSP00000272067:E140Q;ENSP00000272065:E140Q	ENSP00000272065:E140Q	E	+	1	0	ACP1	267245	1.000000	0.71417	0.795000	0.32087	0.972000	0.66771	8.961000	0.93122	2.632000	0.89209	0.655000	0.94253	GAG	ACP1	-	pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF,prints_Tyr_Pase_low_mol_wt_mml,prints_Tyr_phospatase/Ars_reductase		0.483	ACP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACP1	HGNC	protein_coding	OTTHUMT00000195862.3	G			277245	+1	no_errors	ENST00000272065	ensembl	human	known	70_37	missense	SNP	1.000	C
ACSF2	80221	genome.wustl.edu	37	17	48541643	48541643	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:48541643G>C	ENST00000300441.4	+	10	1307	c.1203G>C	c.(1201-1203)atG>atC	p.M401I	ACSF2_ENST00000541920.1_Missense_Mutation_p.M241I|ACSF2_ENST00000427954.2_Missense_Mutation_p.M426I|ACSF2_ENST00000504392.1_Missense_Mutation_p.M358I|ACSF2_ENST00000502667.1_Missense_Mutation_p.M388I	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	401					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AGATAAATATGAAGGACCTGG	0.572																																																	0													114.0	106.0	109.0					17																	48541643		2203	4300	6503	SO:0001583	missense	80221			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"""Acyl-CoA synthetase family"""	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.1203G>C	17.37:g.48541643G>C	ENSP00000300441:p.Met401Ile		B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.M401I	ENST00000300441.4	37	c.1203	CCDS11567.1	17	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380420	0.42207	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	4.34	3.37	0.38596	AMP-dependent synthetase/ligase (1);	0.304747	0.40554	N	0.001080	T	0.37892	0.1020	L	0.35593	1.075	0.43628	D	0.996011	B;B;B;B	0.25048	0.117;0.024;0.117;0.117	B;B;B;B	0.36378	0.145;0.145;0.145;0.223	T	0.37220	-0.9715	10	0.59425	D	0.04	-18.8605	12.6886	0.56962	0.0806:0.0:0.9194:0.0	.	388;426;358;401	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	I	401;241;358;426;388	ENSP00000300441:M401I;ENSP00000437987:M241I;ENSP00000425964:M358I;ENSP00000401831:M426I;ENSP00000421884:M388I	ENSP00000300441:M401I	M	+	3	0	ACSF2	45896642	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.097000	0.41748	1.184000	0.42957	0.561000	0.74099	ATG	ACSF2	-	pfam_AMP-dep_Synth/Lig		0.572	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF2	HGNC	protein_coding	OTTHUMT00000367423.3	G	NM_025149		48541643	+1	no_errors	ENST00000300441	ensembl	human	known	70_37	missense	SNP	1.000	C
ACTN2	88	genome.wustl.edu	37	1	236918438	236918438	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:236918438C>G	ENST00000366578.4	+	17	2260	c.2094C>G	c.(2092-2094)gaC>gaG	p.D698E	ACTN2_ENST00000542672.1_Missense_Mutation_p.D698E|ACTN2_ENST00000546208.1_Missense_Mutation_p.D192E	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	698					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGGAGGGAGACCATCAGCTCA	0.527																																																	0													200.0	192.0	195.0					1																	236918438		2203	4300	6503	SO:0001583	missense	88			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2094C>G	1.37:g.236918438C>G	ENSP00000355537:p.Asp698Glu		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.D698E	ENST00000366578.4	37	c.2094	CCDS1613.1	1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.581877	0.28180	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.48522	0.81;0.81;0.81	4.62	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.60728	0.2291	M	0.72479	2.2	0.54753	D	0.99998	D;B;D;P	0.57899	0.981;0.0;0.981;0.926	D;B;D;D	0.81914	0.995;0.005;0.995;0.971	T	0.55717	-0.8097	10	0.30078	T	0.28	.	8.4454	0.32838	0.0:0.5733:0.0:0.4267	.	483;698;468;698	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	E	698;698;192;467	ENSP00000443495:D698E;ENSP00000355537:D698E;ENSP00000438384:D192E	ENSP00000355537:D698E	D	+	3	2	ACTN2	234985061	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	0.905000	0.28504	0.388000	0.25054	0.557000	0.71058	GAC	ACTN2	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.527	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1	C	NM_001103		236918438	+1	no_errors	ENST00000366578	ensembl	human	known	70_37	missense	SNP	0.999	G
ACTR8	93973	genome.wustl.edu	37	3	53911378	53911378	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:53911378G>A	ENST00000335754.3	-	5	647	c.547C>T	c.(547-549)Cac>Tac	p.H183Y	ACTR8_ENST00000231909.7_5'Flank|ACTR8_ENST00000482349.1_Missense_Mutation_p.H72Y	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	183					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		ATAGGCCAGTGAATATTGTAA	0.423																																																	0													53.0	57.0	56.0					3																	53911378		2203	4300	6503	SO:0001583	missense	93973				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.547C>T	3.37:g.53911378G>A	ENSP00000336842:p.His183Tyr		B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.H183Y	ENST00000335754.3	37	c.547	CCDS2875.1	3	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833884	0.91036	.	.	ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000498740	D;D	0.94376	-3.41;-3.41	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.93946	0.8062	L	0.49571	1.57	0.80722	D	1	P	0.50272	0.933	P	0.51895	0.683	D	0.92903	0.6341	10	0.40728	T	0.16	1.0E-4	18.6387	0.91387	0.0:0.0:1.0:0.0	.	183	Q9H981	ARP8_HUMAN	Y	183;72;72	ENSP00000336842:H183Y;ENSP00000419429:H72Y	ENSP00000336842:H183Y	H	-	1	0	ACTR8	53886418	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.434000	0.97515	2.835000	0.97688	0.650000	0.86243	CAC	ACTR8	-	pfam_Actin-like,smart_Actin-like		0.423	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR8	HGNC	protein_coding	OTTHUMT00000350562.2	G	NM_022899		53911378	-1	no_errors	ENST00000335754	ensembl	human	known	70_37	missense	SNP	1.000	A
ADAMTS10	81794	genome.wustl.edu	37	19	8650111	8650111	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:8650111C>T	ENST00000597188.1	-	24	3217	c.2947G>A	c.(2947-2949)Gcg>Acg	p.A983T	ADAMTS10_ENST00000595838.1_Missense_Mutation_p.A470T|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.A983T|AC130469.2_ENST00000597256.1_RNA	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	983	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GAGCAGTGCGCCGGGGGCAGC	0.746																																																	0													3.0	5.0	4.0					19																	8650111		1748	3483	5231	SO:0001583	missense	81794			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.2947G>A	19.37:g.8650111C>T	ENSP00000471851:p.Ala983Thr		M0QZE4	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.A983T	ENST00000597188.1	37	c.2947	CCDS12206.1	19	.	.	.	.	.	.	.	.	.	.	C	9.948	1.219341	0.22373	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.60797	0.16	4.92	-0.398	0.12418	.	0.314329	0.29846	N	0.011044	T	0.32734	0.0839	N	0.16266	0.395	0.09310	N	1	B;B;B	0.23128	0.001;0.001;0.08	B;B;B	0.24006	0.005;0.007;0.05	T	0.10222	-1.0639	10	0.32370	T	0.25	.	4.6244	0.12470	0.212:0.4333:0.0:0.3547	.	786;983;470	Q59FE5;Q9H324;E9PCI6	.;ATS10_HUMAN;.	T	983;786	ENSP00000270328:A983T	ENSP00000270328:A983T	A	-	1	0	ADAMTS10	8556111	0.020000	0.18652	0.001000	0.08648	0.086000	0.17979	0.339000	0.19875	0.132000	0.18615	0.455000	0.32223	GCG	ADAMTS10	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.746	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS10	HGNC	protein_coding	OTTHUMT00000460085.3	C	NM_030957		8650111	-1	no_errors	ENST00000270328	ensembl	human	known	70_37	missense	SNP	0.001	T
ADCY1	107	genome.wustl.edu	37	7	45614588	45614588	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:45614588C>T	ENST00000297323.7	+	1	468	c.446C>T	c.(445-447)tCc>tTc	p.S149F	ADCY1_ENST00000432715.1_5'UTR	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	149					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	gcccggggttccgccggggcc	0.706																																																	0													8.0	11.0	10.0					7																	45614588		2079	4090	6169	SO:0001583	missense	107			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.446C>T	7.37:g.45614588C>T	ENSP00000297323:p.Ser149Phe		A4D2L8|Q75MI1	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.S149F	ENST00000297323.7	37	c.446	CCDS34631.1	7	.	.	.	.	.	.	.	.	.	.	C	6.698	0.497348	0.12762	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.79554	-1.28	2.84	-1.7	0.08159	.	1.737770	0.03975	U	0.292375	T	0.55449	0.1921	N	0.08118	0	0.09310	N	1	B	0.17465	0.022	B	0.09377	0.004	T	0.42949	-0.9421	10	0.09843	T	0.71	.	1.0	0.01475	0.2637:0.2737:0.3133:0.1493	.	149	Q08828	ADCY1_HUMAN	F	149	ENSP00000297323:S149F	ENSP00000297323:S149F	S	+	2	0	ADCY1	45581113	0.000000	0.05858	0.000000	0.03702	0.781000	0.44180	-1.912000	0.01582	-0.412000	0.07519	0.205000	0.17691	TCC	ADCY1	-	NULL		0.706	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY1	HGNC	protein_coding	OTTHUMT00000340055.2	C	NM_021116		45614588	+1	no_errors	ENST00000297323	ensembl	human	known	70_37	missense	SNP	0.000	T
ADCY10P1	221442	genome.wustl.edu	37	6	41086700	41086700	+	RNA	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:41086700G>A	ENST00000567255.1	+	0	1953					NR_026938.2				adenylate cyclase 10 (soluble) pseudogene 1																		CAGACTGGGAGAAAGAATTGG	0.428																																																	0																																												221442					6p21.1	2012-07-04			ENSG00000161912	ENSG00000161912			44143	pseudogene	pseudogene							Standard	NR_026938		Approved		uc010jxi.1		OTTHUMG00000014668		6.37:g.41086700G>A				RNA	SNP	-	NULL	ENST00000567255.1	37	NULL		6																																																																																			ADCY10P1	-	-		0.428	ADCY10P1-002	KNOWN	non_canonical_polymorphism|basic	processed_transcript	ADCY10P1	HGNC	pseudogene	OTTHUMT00000436223.1	G	NR_026938		41086700	+1	no_errors	ENST00000567255	ensembl	human	known	70_37	rna	SNP	0.974	A
ADD1	118	genome.wustl.edu	37	4	2910284	2910284	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:2910284C>T	ENST00000398129.1	+	11	1578	c.1558C>T	c.(1558-1560)Cag>Tag	p.Q520*	ADD1_ENST00000264758.7_Nonsense_Mutation_p.Q551*|ADD1_ENST00000398123.2_Nonsense_Mutation_p.Q551*|ADD1_ENST00000503455.2_Nonsense_Mutation_p.Q551*|ADD1_ENST00000513328.2_Nonsense_Mutation_p.Q520*|ADD1_ENST00000398125.1_Nonsense_Mutation_p.Q551*|ADD1_ENST00000355842.3_Nonsense_Mutation_p.Q520*|ADD1_ENST00000446856.1_Nonsense_Mutation_p.Q520*			P35611	ADDA_HUMAN	adducin 1 (alpha)	520					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGCTGGCCCTCAGTCCCAGGT	0.567																																					Esophageal Squamous(71;505 1201 20414 34538 37449)												0													176.0	139.0	152.0					4																	2910284		2203	4300	6503	SO:0001587	stop_gained	118			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.1558C>T	4.37:g.2910284C>T	ENSP00000381197:p.Gln520*		A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Nonsense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.Q551*	ENST00000398129.1	37	c.1651	CCDS43205.1	4	.	.	.	.	.	.	.	.	.	.	C	47	13.576219	0.99750	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000513328;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129;ENST00000536424	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-26.831	20.3053	0.98627	0.0:1.0:0.0:0.0	.	.	.	.	X	551;520;551;520;551;520;551;520;20	.	ENSP00000264758:Q551X	Q	+	1	0	ADD1	2880082	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.393000	0.79851	2.808000	0.96608	0.655000	0.94253	CAG	ADD1	-	NULL		0.567	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADD1	HGNC	protein_coding	OTTHUMT00000242840.1	C	NM_014189		2910284	+1	no_errors	ENST00000264758	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ADHFE1	137872	genome.wustl.edu	37	8	67357469	67357469	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:67357469G>C	ENST00000396623.3	+	6	401	c.370G>C	c.(370-372)Gag>Cag	p.E124Q	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.E76Q|ADHFE1_ENST00000379385.4_Missense_Mutation_p.E124Q	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	124					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GGAAGCTATTGAGTTTGCCCA	0.423																																																	0													111.0	99.0	103.0					8																	67357469		2203	4300	6503	SO:0001583	missense	137872			AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.370G>C	8.37:g.67357469G>C	ENSP00000379865:p.Glu124Gln		B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	pfam_ADH_Fe	p.E124Q	ENST00000396623.3	37	c.370	CCDS6190.2	8	.	.	.	.	.	.	.	.	.	.	G	10.86	1.471235	0.26423	.	.	ENSG00000147576	ENST00000523113;ENST00000379385;ENST00000396623;ENST00000415254	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.64	5.64	0.86602	Alcohol dehydrogenase, iron-type (1);	0.148446	0.64402	D	0.000018	T	0.32406	0.0828	L	0.38175	1.15	0.42985	D	0.994471	B	0.17038	0.02	B	0.24974	0.057	T	0.11817	-1.0572	10	0.16420	T	0.52	-9.4925	11.0114	0.47665	0.0709:0.1311:0.7981:0.0	.	124	Q8IWW8	HOT_HUMAN	Q	59;124;124;76	ENSP00000428055:E59Q;ENSP00000368695:E124Q;ENSP00000379865:E124Q;ENSP00000407115:E76Q	ENSP00000368695:E124Q	E	+	1	0	ADHFE1	67520023	0.986000	0.35501	1.000000	0.80357	0.994000	0.84299	1.200000	0.32247	2.658000	0.90341	0.655000	0.94253	GAG	ADHFE1	-	pfam_ADH_Fe		0.423	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADHFE1	HGNC	protein_coding	OTTHUMT00000316867.3	G	NM_144650		67357469	+1	no_errors	ENST00000396623	ensembl	human	known	70_37	missense	SNP	1.000	C
ADRBK1	156	genome.wustl.edu	37	11	67053974	67053974	+	3'UTR	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:67053974G>C	ENST00000308595.5	+	0	3413				ANKRD13D_ENST00000447274.2_5'Flank|ADRBK1_ENST00000526285.1_Silent_p.V402V|ANKRD13D_ENST00000511455.2_5'Flank|ANKRD13D_ENST00000514166.1_5'Flank|ANKRD13D_ENST00000308440.6_5'Flank	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1						activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TTTTGAATGTGATTTTAAAGA	0.507																																																	0																																										SO:0001624	3_prime_UTR_variant	156			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.*1053G>C	11.37:g.67053974G>C			B0ZBE1|Q13837|Q6GTT3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.V402	ENST00000308595.5	37	c.1206	CCDS8156.1	11																																																																																			ADRBK1	-	smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.507	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK1	HGNC	protein_coding	OTTHUMT00000393153.1	G	NM_001619		67053974	+1	no_errors	ENST00000526285	ensembl	human	novel	70_37	silent	SNP	1.000	C
AHDC1	27245	genome.wustl.edu	37	1	27861165	27861165	+	3'UTR	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:27861165C>G	ENST00000247087.5	-	0	5714				AHDC1_ENST00000374011.2_3'UTR			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1								DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		ctcgctctctctctctctttt	0.413																																																	0																																										SO:0001624	3_prime_UTR_variant	27245			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.*306G>C	1.37:g.27861165C>G			Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	RNA	SNP	-	NULL	ENST00000247087.5	37	NULL	CCDS30652.1	1																																																																																			AHDC1	-	-		0.413	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	HGNC	protein_coding	OTTHUMT00000009523.3	C			27861165	-1	no_errors	ENST00000482400	ensembl	human	known	70_37	rna	SNP	0.755	G
AIF1L	83543	genome.wustl.edu	37	9	133981650	133981650	+	Intron	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:133981650C>T	ENST00000247291.3	+	3	181				AIF1L_ENST00000372298.1_Intron|AIF1L_ENST00000372297.2_Intron|AIF1L_ENST00000372312.3_Intron|AIF1L_ENST00000372300.1_Intron|AIF1L_ENST00000372302.1_Intron|AIF1L_ENST00000472942.1_Intron|AIF1L_ENST00000372309.3_Nonsense_Mutation_p.Q57*	NM_031426.3	NP_113614.1	Q9BQI0	AIF1L_HUMAN	allograft inflammatory factor 1-like							actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			lung(2)	2						tctgctgtttcaggcaagtta	0.527																																					Esophageal Squamous(95;611 1423 5044 34794 42333)												0																																										SO:0001627	intron_variant	83543			AL136566	CCDS6939.1, CCDS55348.1, CCDS55349.1	9q34.13-q34.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000126878	ENSG00000126878		"""EF-hand domain containing"""	28904	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 58"""	C9orf58		11230166	Standard	NM_001185095		Approved	IBA2, FLJ12783	uc004cad.2	Q9BQI0	OTTHUMG00000020817	ENST00000247291.3:c.94-5334C>T	9.37:g.133981650C>T			B2RBC4|Q6ZR40|Q8NAX7|Q8WU47|Q9H9G0	Nonsense_Mutation	SNP	pfscan_EF_HAND_2	p.Q57*	ENST00000247291.3	37	c.169	CCDS6939.1	9	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448199	0.43429	.	.	ENSG00000126878	ENST00000372309	.	.	.	2.46	-2.06	0.07298	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	0.1245	0.00068	0.2864:0.1563:0.1969:0.3604	.	.	.	.	X	57	.	ENSP00000361383:Q57X	Q	+	1	0	AIF1L	132971471	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.099000	0.15210	-0.462000	0.06984	-1.497000	0.00963	CAG	AIF1L	-	NULL		0.527	AIF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIF1L	HGNC	protein_coding	OTTHUMT00000054703.2	C	NM_031426		133981650	+1	no_errors	ENST00000372309	ensembl	human	known	70_37	nonsense	SNP	0.000	T
AJAP1	55966	genome.wustl.edu	37	1	4832482	4832482	+	Missense_Mutation	SNP	C	C	G	rs114921411	byFrequency	TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:4832482C>G	ENST00000378191.4	+	4	1441	c.1060C>G	c.(1060-1062)Ctg>Gtg	p.L354V	AJAP1_ENST00000378190.3_Missense_Mutation_p.L354V	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	354	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TAACGAGACCCTGCAGTGTTC	0.582																																																	0													78.0	67.0	71.0					1																	4832482		2203	4300	6503	SO:0001583	missense	55966			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1060C>G	1.37:g.4832482C>G	ENSP00000367433:p.Leu354Val		Q9Y229	Missense_Mutation	SNP	NULL	p.L354V	ENST00000378191.4	37	c.1060	CCDS54.1	1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.821186	0.71028	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.56103	0.48;0.48	5.12	4.19	0.49359	.	0.000000	0.64402	D	0.000001	T	0.58552	0.2130	L	0.27053	0.805	0.46774	D	0.99919	D	0.76494	0.999	D	0.80764	0.994	T	0.62831	-0.6771	10	0.87932	D	0	-22.681	12.7678	0.57401	0.0:0.9171:0.0:0.0829	.	354	Q9UKB5	AJAP1_HUMAN	V	354	ENSP00000367432:L354V;ENSP00000367433:L354V	ENSP00000367432:L354V	L	+	1	2	AJAP1	4732342	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	2.210000	0.42816	2.380000	0.81148	0.561000	0.74099	CTG	AJAP1	-	NULL		0.582	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	AJAP1	HGNC	protein_coding	OTTHUMT00000001542.3	C	NM_018836		4832482	+1	no_errors	ENST00000378190	ensembl	human	known	70_37	missense	SNP	1.000	G
AKAP3	10566	genome.wustl.edu	37	12	4735736	4735736	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:4735736G>A	ENST00000545990.2	-	5	2856	c.2332C>T	c.(2332-2334)Caa>Taa	p.Q778*	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Nonsense_Mutation_p.Q778*	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	778					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GCTACCCATTGAAGGACGGCT	0.493																																																	0													154.0	141.0	146.0					12																	4735736		2203	4300	6503	SO:0001587	stop_gained	10566			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.2332C>T	12.37:g.4735736G>A	ENSP00000440994:p.Gln778*		O75945|Q86X01|Q9UM61	Nonsense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.Q778*	ENST00000545990.2	37	c.2332	CCDS8531.1	12	.	.	.	.	.	.	.	.	.	.	G	43	10.267383	0.99371	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	.	.	.	4.91	4.91	0.64330	.	0.000000	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.2829	15.1144	0.72388	0.0:0.0:1.0:0.0	.	.	.	.	X	778	.	ENSP00000228850:Q778X	Q	-	1	0	AKAP3	4605997	1.000000	0.71417	0.970000	0.41538	0.991000	0.79684	5.252000	0.65445	2.544000	0.85801	0.655000	0.94253	CAA	AKAP3	-	pfam_AKAP_110_C,smart_AKAP_110		0.493	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2	G	NM_006422		4735736	-1	no_errors	ENST00000228850	ensembl	human	known	70_37	nonsense	SNP	0.993	A
AKAP3	10566	genome.wustl.edu	37	12	4736184	4736184	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:4736184C>A	ENST00000545990.2	-	5	2408	c.1884G>T	c.(1882-1884)ttG>ttT	p.L628F	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.L628F	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	628					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GTCTTTCACACAACTTCCTAT	0.512																																																	0													58.0	55.0	56.0					12																	4736184		2203	4300	6503	SO:0001583	missense	10566			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1884G>T	12.37:g.4736184C>A	ENSP00000440994:p.Leu628Phe		O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.L628F	ENST00000545990.2	37	c.1884	CCDS8531.1	12	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.081218	0.00371	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.07688	3.17;3.17	5.69	-6.94	0.01633	A-kinase anchor 110kDa, C-terminal (1);	2.499000	0.01008	N	0.003791	T	0.03520	0.0101	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36138	-0.9760	10	0.36615	T	0.2	4.0688	1.9873	0.03439	0.141:0.2475:0.3379:0.2735	.	628	O75969	AKAP3_HUMAN	F	628	ENSP00000228850:L628F;ENSP00000440994:L628F	ENSP00000228850:L628F	L	-	3	2	AKAP3	4606445	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-1.901000	0.01597	-0.901000	0.03891	-0.878000	0.02970	TTG	AKAP3	-	pfam_AKAP_110_C,smart_AKAP_110		0.512	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2	C	NM_006422		4736184	-1	no_errors	ENST00000228850	ensembl	human	known	70_37	missense	SNP	0.000	A
AKAP9	10142	genome.wustl.edu	37	7	91726507	91726507	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:91726507G>A	ENST00000359028.2	+	41	10471	c.10246G>A	c.(10246-10248)Gtg>Atg	p.V3416M	AKAP9_ENST00000356239.3_Missense_Mutation_p.V3412M|AKAP9_ENST00000358100.2_Missense_Mutation_p.V3362M			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3416					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCAGTCCAAAGTGGAAGATCT	0.448			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													42.0	44.0	44.0					7																	91726507		2203	4300	6503	SO:0001583	missense	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.10246G>A	7.37:g.91726507G>A	ENSP00000351922:p.Val3416Met		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like	p.V3416M	ENST00000359028.2	37	c.10246		7	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613130	0.28712	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03496	3.99;3.99;4.0;3.91	5.56	4.63	0.57726	.	0.205373	0.24366	N	0.039142	T	0.10294	0.0252	L	0.57536	1.79	0.35978	D	0.835794	B;D;P;D;D	0.53462	0.085;0.96;0.933;0.96;0.96	B;P;P;P;P	0.54312	0.02;0.748;0.486;0.684;0.684	T	0.01639	-1.1306	10	0.59425	D	0.04	.	12.8632	0.57926	0.0:0.1566:0.7308:0.1126	.	687;3416;3416;3412;3404	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	M	3412;3416;3362;3416;1258	ENSP00000348573:V3412M;ENSP00000351922:V3416M;ENSP00000350813:V3362M;ENSP00000378042:V1258M	ENSP00000348573:V3412M	V	+	1	0	AKAP9	91564443	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.797000	0.38804	2.776000	0.95493	0.655000	0.94253	GTG	AKAP9	-	NULL		0.448	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		G	NM_005751		91726507	+1	no_errors	ENST00000359028	ensembl	human	known	70_37	missense	SNP	1.000	A
AKNA	80709	genome.wustl.edu	37	9	117139085	117139085	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:117139085C>T	ENST00000307564.4	-	3	1163	c.1002G>A	c.(1000-1002)caG>caA	p.Q334Q	AKNA_ENST00000374088.3_Silent_p.Q334Q|AKNA_ENST00000312033.3_Silent_p.Q334Q|AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000374075.5_Silent_p.Q253Q	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	334					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GAGTGGCTCCCTGTCTGGGCA	0.642																																																	0													23.0	25.0	24.0					9																	117139085		2203	4298	6501	SO:0001819	synonymous_variant	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1002G>A	9.37:g.117139085C>T			Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Silent	SNP	pfam_TF_AT-hook	p.Q334	ENST00000307564.4	37	c.1002	CCDS6805.1	9																																																																																			AKNA	-	NULL		0.642	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	C	NM_030767		117139085	-1	no_errors	ENST00000307564	ensembl	human	known	70_37	silent	SNP	0.092	T
AMFR	267	genome.wustl.edu	37	16	56396850	56396850	+	Missense_Mutation	SNP	G	G	A	rs145747194		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:56396850G>A	ENST00000290649.5	-	14	2113	c.1903C>T	c.(1903-1905)Cgg>Tgg	p.R635W		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	635	VCP/p97-interacting motif (VIM).				aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TGAAGCCTCCGTTCCGCGGCG	0.642																																					Pancreas(2;144 323 39528)												0								G	TRP/ARG	0,4396		0,0,2198	45.0	36.0	39.0		1903	4.8	0.9	16	dbSNP_134	39	1,8599		0,1,4299	no	missense	AMFR	NM_001144.4	101	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	635/644	56396850	1,12995	2198	4300	6498	SO:0001583	missense	267			L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"""RING-type (C3HC4) zinc fingers"""	463	protein-coding gene	gene with protein product		603243	"""autocrine motility factor receptor"""			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1903C>T	16.37:g.56396850G>A	ENSP00000290649:p.Arg635Trp		P26442|Q8IZ70	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_CUE,pfscan_CUE,pfscan_Znf_RING	p.R635W	ENST00000290649.5	37	c.1903	CCDS10758.1	16	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269474	0.80469	0.0	1.16E-4	ENSG00000159461	ENST00000290649	T	0.23754	1.89	5.8	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	L	0.45137	1.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.37820	-0.9689	10	0.87932	D	0	-26.4017	13.954	0.64135	0.0:0.0:0.7235:0.2765	.	635;284	Q9UKV5;Q1RN03	AMFR2_HUMAN;.	W	635	ENSP00000290649:R635W	ENSP00000290649:R635W	R	-	1	2	AMFR	54954351	0.994000	0.37717	0.891000	0.34965	0.974000	0.67602	2.231000	0.43009	1.445000	0.47624	0.563000	0.77884	CGG	AMFR	-	NULL		0.642	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMFR	HGNC	protein_coding	OTTHUMT00000256978.2	G			56396850	-1	no_errors	ENST00000290649	ensembl	human	known	70_37	missense	SNP	0.977	A
AP2M1	1173	genome.wustl.edu	37	3	183899783	183899783	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:183899783A>T	ENST00000292807.5	+	9	1059	c.911A>T	c.(910-912)aAg>aTg	p.K304M	AP2M1_ENST00000439647.1_Missense_Mutation_p.K302M|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_Missense_Mutation_p.K302M|AP2M1_ENST00000411763.2_Missense_Mutation_p.K329M|AP2M1_ENST00000461733.1_3'UTR	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	304	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGGAGGTCAAGGTGGTCATC	0.537																																																	0													59.0	59.0	59.0					3																	183899783		2029	4178	6207	SO:0001583	missense	1173			U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.911A>T	3.37:g.183899783A>T	ENSP00000292807:p.Lys304Met		A6NE12|D3DNT1|P20172|P53679	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.K304M	ENST00000292807.5	37	c.911	CCDS43177.1	3	.	.	.	.	.	.	.	.	.	.	A	23.8	4.460862	0.84317	.	.	ENSG00000161203	ENST00000382456;ENST00000411763;ENST00000292807;ENST00000540821;ENST00000539646;ENST00000439647;ENST00000432591	T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09	6.17	6.17	0.99709	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.34832	0.0911	L	0.33710	1.025	0.80722	D	1	P;P;D;D;D	0.76494	0.953;0.861;0.997;0.999;0.996	P;P;P;D;P	0.70935	0.899;0.613;0.884;0.971;0.815	T	0.02821	-1.1106	10	0.23891	T	0.37	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	194;174;304;329;302	B7Z4N2;B4DTI4;Q96CW1;E9PFW3;Q96CW1-2	.;.;AP2M1_HUMAN;.;.	M	302;329;304;244;289;302;233	ENSP00000371894:K302M;ENSP00000403362:K329M;ENSP00000292807:K304M;ENSP00000409081:K302M;ENSP00000395438:K233M	ENSP00000292807:K304M	K	+	2	0	AP2M1	185382477	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.371000	0.80710	0.533000	0.62120	AAG	AP2M1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C		0.537	AP2M1-003	KNOWN	basic|CCDS	protein_coding	AP2M1	HGNC	protein_coding	OTTHUMT00000346013.1	A	NM_004068		183899783	+1	no_errors	ENST00000292807	ensembl	human	known	70_37	missense	SNP	1.000	T
AP3B1	8546	genome.wustl.edu	37	5	77406134	77406134	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:77406134G>A	ENST00000255194.6	-	20	2469	c.2294C>T	c.(2293-2295)tCa>tTa	p.S765L	AP3B1_ENST00000519295.1_Missense_Mutation_p.S716L	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	765	Glu/Ser-rich.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TGAAGAATCTGAAGTTTTAGA	0.328									Hermansky-Pudlak syndrome																																								0													56.0	54.0	55.0					5																	77406134		2199	4296	6495	SO:0001583	missense	8546	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.2294C>T	5.37:g.77406134G>A	ENSP00000255194:p.Ser765Leu		E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	p.S765L	ENST00000255194.6	37	c.2294	CCDS4041.1	5	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866484	0.51588	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760	D;D	0.97430	-4.38;-4.38	5.68	5.68	0.88126	.	0.569729	0.19359	N	0.116192	D	0.95069	0.8403	L	0.53249	1.67	0.09310	N	1	B	0.17038	0.02	B	0.14578	0.011	D	0.88476	0.3065	10	0.46703	T	0.11	-5.6243	12.2754	0.54733	0.0798:0.0:0.9202:0.0	.	765	O00203	AP3B1_HUMAN	L	765;716;765	ENSP00000255194:S765L;ENSP00000430597:S716L	ENSP00000255194:S765L	S	-	2	0	AP3B1	77441890	0.895000	0.30542	0.165000	0.22776	0.956000	0.61745	2.989000	0.49393	2.674000	0.91012	0.655000	0.94253	TCA	AP3B1	-	pirsf_AP3_beta		0.328	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	HGNC	protein_coding	OTTHUMT00000225548.2	G			77406134	-1	no_errors	ENST00000255194	ensembl	human	known	70_37	missense	SNP	0.017	A
APAF1	317	genome.wustl.edu	37	12	99106099	99106099	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:99106099C>T	ENST00000551964.1	+	21	3580	c.2844C>T	c.(2842-2844)ctC>ctT	p.L948L	APAF1_ENST00000552268.1_Intron|APAF1_ENST00000339433.3_Silent_p.L905L|APAF1_ENST00000547045.1_Silent_p.L905L|APAF1_ENST00000359972.2_Silent_p.L894L|APAF1_ENST00000550527.1_Silent_p.L937L|APAF1_ENST00000357310.1_Silent_p.L905L|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000549007.1_Silent_p.L905L	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	948					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TTCATTAGCTCATTAATGGAA	0.353																																																	0													100.0	89.0	93.0					12																	99106099		2203	4300	6503	SO:0001819	synonymous_variant	317			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2844C>T	12.37:g.99106099C>T			B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Silent	SNP	pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep	p.L948	ENST00000551964.1	37	c.2844	CCDS9069.1	12																																																																																			APAF1	-	superfamily_WD40_repeat_dom,pirsf_Apoptotic_pept-activating_1,pfscan_WD40_repeat_dom		0.353	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APAF1	HGNC	protein_coding	OTTHUMT00000408006.1	C	NM_181861.1		99106099	+1	no_errors	ENST00000551964	ensembl	human	known	70_37	silent	SNP	0.995	T
ARHGAP39	80728	genome.wustl.edu	37	8	145772651	145772651	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:145772651C>G	ENST00000276826.5	-	4	2020	c.1819G>C	c.(1819-1821)Gag>Cag	p.E607Q	ARHGAP39_ENST00000528810.1_5'Flank|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E607Q|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E607Q			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	607					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCCAGCGCCTCGTCCTCGCTG	0.687																																																	0													29.0	23.0	25.0					8																	145772651		2201	4299	6500	SO:0001583	missense	80728				CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1819G>C	8.37:g.145772651C>G	ENSP00000276826:p.Glu607Gln		B4E1I1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom	p.E607Q	ENST00000276826.5	37	c.1819		8	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910423	0.52439	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.70045	-0.45;-0.18;-0.45	5.05	5.05	0.67936	.	0.168491	0.51477	D	0.000088	T	0.77198	0.4095	L	0.53249	1.67	0.36296	D	0.856712	D;D	0.76494	0.999;0.999	D;D	0.85130	0.992;0.997	T	0.77983	-0.2382	10	0.26408	T	0.33	-16.4834	15.8849	0.79238	0.0:1.0:0.0:0.0	.	607;607	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	Q	607	ENSP00000276826:E607Q;ENSP00000366522:E607Q;ENSP00000445075:E607Q	ENSP00000276826:E607Q	E	-	1	0	ARHGAP39	145743459	1.000000	0.71417	0.854000	0.33618	0.518000	0.34316	4.804000	0.62554	2.348000	0.79779	0.655000	0.94253	GAG	ARHGAP39	-	NULL		0.687	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	ARHGAP39	HGNC	protein_coding	OTTHUMT00000382509.1	C			145772651	-1	no_errors	ENST00000377307	ensembl	human	known	70_37	missense	SNP	1.000	G
ARHGAP42	143872	genome.wustl.edu	37	11	100803930	100803930	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:100803930G>C	ENST00000298815.8	+	7	644	c.641G>C	c.(640-642)gGa>gCa	p.G214A	snoU13_ENST00000459511.1_RNA|ARHGAP42_ENST00000524892.2_Missense_Mutation_p.G180A	NM_152432.2	NP_689645.2	A6NI28	RHG42_HUMAN	Rho GTPase activating protein 42	214	BAR.				signal transduction (GO:0007165)	intracellular (GO:0005622)	GTPase activator activity (GO:0005096)			endometrium(3)|skin(2)	5						TACCATGAGGGATATGAACTT	0.358																																																	0													154.0	122.0	132.0					11																	100803930		692	1591	2283	SO:0001583	missense	143872					11q22.1	2012-04-19			ENSG00000165895	ENSG00000165895		"""Rho GTPase activating proteins"""	26545	protein-coding gene	gene with protein product		615936				18954304	Standard	NM_152432		Approved	FLJ32810, GRAF3	uc001pge.2	A6NI28	OTTHUMG00000167530	ENST00000298815.8:c.641G>C	11.37:g.100803930G>C	ENSP00000298815:p.Gly214Ala		Q96M56	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.G214A	ENST00000298815.8	37	c.641		11	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903103	0.92035	.	.	ENSG00000165895	ENST00000524892;ENST00000298815;ENST00000531183	T;T;T	0.05717	3.4;3.4;3.4	5.69	5.69	0.88448	IRSp53/MIM homology domain (IMD) (1);	0.000000	0.53938	U	0.000058	T	0.18257	0.0438	L	0.61387	1.9	0.80722	D	1	P	0.46952	0.887	P	0.51945	0.685	T	0.00039	-1.2239	10	0.46703	T	0.11	.	19.8167	0.96571	0.0:0.0:1.0:0.0	.	214	A6NI28	RHG42_HUMAN	A	180;214;70	ENSP00000431776:G180A;ENSP00000298815:G214A;ENSP00000434304:G70A	ENSP00000298815:G214A	G	+	2	0	ARHGAP42	100309140	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.405000	0.80007	2.671000	0.90904	0.591000	0.81541	GGA	ARHGAP42	-	NULL		0.358	ARHGAP42-201	KNOWN	basic|appris_principal	protein_coding	ARHGAP42	HGNC	protein_coding		G	NM_152432		100803930	+1	no_errors	ENST00000298815	ensembl	human	known	70_37	missense	SNP	1.000	C
ARHGEF7	8874	genome.wustl.edu	37	13	111857660	111857660	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr13:111857660C>G	ENST00000375741.2	+	4	590	c.340C>G	c.(340-342)Cag>Gag	p.Q114E	ARHGEF7_ENST00000317133.5_Missense_Mutation_p.Q93E|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000375736.4_5'UTR|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.Q11E|ARHGEF7_ENST00000375723.1_5'UTR|ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.Q64E|ARHGEF7_ENST00000426073.2_5'UTR|ARHGEF7_ENST00000544132.1_5'UTR	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	114	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGATTTGTATCAGGGGCAGAA	0.388																																																	0													137.0	135.0	135.0					13																	111857660		2203	4300	6503	SO:0001583	missense	8874			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.340C>G	13.37:g.111857660C>G	ENSP00000364893:p.Gln114Glu		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain	p.Q114E	ENST00000375741.2	37	c.340	CCDS45068.1	13	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719086	0.68844	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000545635;ENST00000426768;ENST00000375737	D;T;T;T;T	0.94376	-3.41;0.76;0.74;1.0;0.78	5.69	5.69	0.88448	Calponin homology domain (4);	0.061135	0.64402	D	0.000003	D	0.88654	0.6495	N	0.04669	-0.19	0.80722	D	1	B;D;P;B	0.53151	0.354;0.958;0.542;0.383	B;P;B;B	0.47430	0.119;0.547;0.348;0.14	D	0.90687	0.4610	10	0.52906	T	0.07	.	19.819	0.96583	0.0:1.0:0.0:0.0	.	11;64;114;93	B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;ARHG7_HUMAN;.	E	93;114;64;91;11;11	ENSP00000325994:Q93E;ENSP00000364893:Q114E;ENSP00000364891:Q64E;ENSP00000389890:Q11E;ENSP00000364889:Q11E	ENSP00000325994:Q93E	Q	+	1	0	ARHGEF7	110655661	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.849000	0.75414	2.691000	0.91804	0.655000	0.94253	CAG	ARHGEF7	-	superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.388	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	ARHGEF7	HGNC	protein_coding		C	NM_001113511		111857660	+1	no_errors	ENST00000375741	ensembl	human	known	70_37	missense	SNP	1.000	G
ARL5A	26225	genome.wustl.edu	37	2	152684679	152684679	+	Silent	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:152684679G>C	ENST00000295087.8	-	1	323	c.12C>G	c.(10-12)ctC>ctG	p.L4L	ARL5A_ENST00000487723.1_5'UTR|ARL5A_ENST00000428992.2_Intron	NM_001037174.1|NM_012097.3	NP_001032251.1|NP_036229.1	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A	4					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			breast(1)|large_intestine(2)|liver(1)|lung(2)	6				BRCA - Breast invasive adenocarcinoma(221;0.153)		TTCTAGTGAAGAGAATTCCCA	0.672																																																	0													31.0	35.0	34.0					2																	152684679		2203	4300	6503	SO:0001819	synonymous_variant	26225			AF100740	CCDS2195.1, CCDS46425.1	2q23.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000162980	ENSG00000162980		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	696	protein-coding gene	gene with protein product		608960	"""ADP-ribosylation factor-like 5"""	ARL5			Standard	NM_012097		Approved		uc002txx.1	Q9Y689	OTTHUMG00000131887	ENST00000295087.8:c.12C>G	2.37:g.152684679G>C			Q580I5	Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L4	ENST00000295087.8	37	c.12	CCDS2195.1	2																																																																																			ARL5A	-	smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF		0.672	ARL5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL5A	HGNC	protein_coding	OTTHUMT00000254837.1	G			152684679	-1	no_errors	ENST00000295087	ensembl	human	known	70_37	silent	SNP	1.000	C
ARVCF	421	genome.wustl.edu	37	22	19960823	19960823	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr22:19960823C>G	ENST00000263207.3	-	14	2548	c.2257G>C	c.(2257-2259)Gag>Cag	p.E753Q	ARVCF_ENST00000406259.1_Missense_Mutation_p.E747Q|ARVCF_ENST00000406522.1_Missense_Mutation_p.E684Q|ARVCF_ENST00000401994.1_Missense_Mutation_p.E690Q|ARVCF_ENST00000344269.3_Missense_Mutation_p.E690Q	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	753					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CGCACAAGCTCAGCCATGGCG	0.652																																																	0													21.0	20.0	20.0					22																	19960823		2199	4298	6497	SO:0001583	missense	421				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2257G>C	22.37:g.19960823C>G	ENSP00000263207:p.Glu753Gln		B7WNV2	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E753Q	ENST00000263207.3	37	c.2257	CCDS13771.1	22	.	.	.	.	.	.	.	.	.	.	C	13.89	2.372454	0.42003	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	4.34	4.34	0.51931	Armadillo-like helical (1);Armadillo-type fold (1);	0.113753	0.64402	D	0.000018	T	0.32645	0.0836	L	0.28115	0.83	0.47308	D	0.999388	B;B	0.17268	0.001;0.021	B;B	0.12156	0.002;0.007	T	0.09400	-1.0676	9	.	.	.	-19.026	12.0944	0.53747	0.0:0.8258:0.1742:0.0	.	753;269	O00192;E7EV58	ARVC_HUMAN;.	Q	753;690;690;684;747	ENSP00000263207:E753Q;ENSP00000342042:E690Q;ENSP00000384341:E690Q;ENSP00000384732:E684Q;ENSP00000385444:E747Q	.	E	-	1	0	ARVCF	18340823	0.630000	0.27155	0.941000	0.38009	0.471000	0.32888	1.273000	0.33121	2.416000	0.81992	0.561000	0.74099	GAG	ARVCF	-	superfamily_ARM-type_fold		0.652	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARVCF	HGNC	protein_coding	OTTHUMT00000075314.5	C	NM_001670		19960823	-1	no_errors	ENST00000263207	ensembl	human	known	70_37	missense	SNP	0.994	G
ASCC3	10973	genome.wustl.edu	37	6	101095188	101095188	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:101095188G>C	ENST00000369162.2	-	21	3736	c.3392C>G	c.(3391-3393)tCa>tGa	p.S1131*		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1131	SEC63 1.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TGGTAGGATTGAAAATTGTCT	0.423																																																	0													127.0	124.0	125.0					6																	101095188		2203	4300	6503	SO:0001587	stop_gained	10973			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.3392C>G	6.37:g.101095188G>C	ENSP00000358159:p.Ser1131*		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Nonsense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S1131*	ENST00000369162.2	37	c.3392	CCDS5046.1	6	.	.	.	.	.	.	.	.	.	.	G	42	9.742506	0.99252	.	.	ENSG00000112249	ENST00000369162	.	.	.	5.98	5.98	0.97165	.	0.140928	0.49305	D	0.000154	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	20.4434	0.99119	0.0:0.0:1.0:0.0	.	.	.	.	X	1131	.	ENSP00000358159:S1131X	S	-	2	0	ASCC3	101201909	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	6.524000	0.73791	2.838000	0.97847	0.655000	0.94253	TCA	ASCC3	-	pfam_Sec63-dom,smart_Sec63-dom		0.423	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCC3	HGNC	protein_coding	OTTHUMT00000041632.2	G	NM_006828		101095188	-1	no_errors	ENST00000369162	ensembl	human	known	70_37	nonsense	SNP	1.000	C
ASXL1	171023	genome.wustl.edu	37	20	31021697	31021697	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr20:31021697G>A	ENST00000375687.4	+	12	2120	c.1696G>A	c.(1696-1698)Gag>Aag	p.E566K	ASXL1_ENST00000306058.5_Missense_Mutation_p.E561K	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	566	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CACTAAAGAGGAGCCCAAAGT	0.507			"""F, N, Mis"""		"""MDS, CMML"""																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													54.0	60.0	58.0					20																	31021697		2203	4300	6503	SO:0001583	missense	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1696G>A	20.37:g.31021697G>A	ENSP00000364839:p.Glu566Lys		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	NULL	p.E566K	ENST00000375687.4	37	c.1696	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647223	0.87958	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.63580	-0.05;-0.05	5.02	5.02	0.67125	.	0.050239	0.85682	D	0.000000	T	0.74596	0.3737	M	0.72894	2.215	0.54753	D	0.999989	D;P	0.62365	0.991;0.924	P;P	0.57101	0.813;0.696	T	0.73313	-0.4022	10	0.37606	T	0.19	-10.7937	18.905	0.92456	0.0:0.0:1.0:0.0	.	561;566	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	K	566;566;566;505;561	ENSP00000364839:E566K;ENSP00000305119:E561K	ENSP00000305119:E561K	E	+	1	0	ASXL1	30485358	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.350000	0.79385	2.780000	0.95670	0.655000	0.94253	GAG	ASXL1	-	NULL		0.507	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	G	NM_015338		31021697	+1	no_errors	ENST00000375687	ensembl	human	known	70_37	missense	SNP	1.000	A
ATAD2B	54454	genome.wustl.edu	37	2	23988385	23988385	+	Missense_Mutation	SNP	T	T	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:23988385T>A	ENST00000238789.5	-	23	3590	c.3247A>T	c.(3247-3249)Ata>Tta	p.I1083L	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1083						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCTTTTTATTCTTGCTTCC	0.403																																																	0													122.0	112.0	115.0					2																	23988385		1837	4083	5920	SO:0001583	missense	54454			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.3247A>T	2.37:g.23988385T>A	ENSP00000238789:p.Ile1083Leu		B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.I1083L	ENST00000238789.5	37	c.3247	CCDS46227.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.42|16.42	3.119577|3.119577	0.56505|0.56505	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000381024|ENST00000238789;ENST00000546030	.|D	.|0.91237	.|-2.81	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|1.117560	.|0.06691	.|N	.|0.769664	D|D	0.82628|0.82628	0.5078|0.5078	N|N	0.08118|0.08118	0|0	0.36393|0.36393	D|D	0.862628|0.862628	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.06405	.|0.001;0.002	T|T	0.67534|0.67534	-0.5646|-0.5646	5|10	.|0.25106	.|T	.|0.35	.|.	12.7611|12.7611	0.57365|0.57365	0.0:0.0:0.1365:0.8635|0.0:0.0:0.1365:0.8635	.|.	.|1083;1078	.|Q9ULI0;Q9ULI0-2	.|ATD2B_HUMAN;.	D|L	358|1083;251	.|ENSP00000238789:I1083L	.|ENSP00000238789:I1083L	E|I	-|-	3|1	2|0	ATAD2B|ATAD2B	23841889|23841889	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	4.034000|4.034000	0.57289|0.57289	2.174000|2.174000	0.68829|0.68829	0.402000|0.402000	0.26972|0.26972	GAA|ATA	ATAD2B	-	NULL		0.403	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	ATAD2B	HGNC	protein_coding	OTTHUMT00000324333.1	T	NM_017552		23988385	-1	no_errors	ENST00000238789	ensembl	human	known	70_37	missense	SNP	1.000	A
ATP2B2	491	genome.wustl.edu	37	3	10387122	10387122	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:10387122G>A	ENST00000352432.4	-	17	2718	c.2649C>T	c.(2647-2649)ctC>ctT	p.L883L	ATP2B2_ENST00000397077.1_Silent_p.L838L|ATP2B2_ENST00000383800.4_Silent_p.L838L|ATP2B2_ENST00000343816.4_Silent_p.L869L|ATP2B2_ENST00000360273.2_Silent_p.L883L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	883					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGTTGACGGTGAGCTGGAACT	0.582																																					Ovarian(125;1619 1709 15675 19819 38835)												0													202.0	143.0	163.0					3																	10387122		2203	4300	6503	SO:0001819	synonymous_variant	491			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2649C>T	3.37:g.10387122G>A			O00766|Q12994|Q16818	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.L883	ENST00000352432.4	37	c.2649	CCDS33701.1	3																																																																																			ATP2B2	-	tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr		0.582	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	G	NM_001683		10387122	-1	no_errors	ENST00000352432	ensembl	human	known	70_37	silent	SNP	0.843	A
ATP11B	23200	genome.wustl.edu	37	3	182587045	182587045	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:182587045G>A	ENST00000323116.5	+	17	2052	c.1792G>A	c.(1792-1794)Gag>Aag	p.E598K		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	598					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TAAAGGAGCTGAGTCATCAAT	0.289																																																	0													43.0	44.0	44.0					3																	182587045		2201	4292	6493	SO:0001583	missense	23200			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1792G>A	3.37:g.182587045G>A	ENSP00000321195:p.Glu598Lys		Q96FN1|Q9UKK7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.E598K	ENST00000323116.5	37	c.1792	CCDS33896.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.478927	0.96291	.	.	ENSG00000058063	ENST00000323116	T	0.70045	-0.45	5.63	5.63	0.86233	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.84211	0.5422	M	0.84219	2.685	0.80722	D	1	D;D	0.76494	0.999;0.974	D;D	0.85130	0.997;0.96	D	0.85900	0.1434	10	0.87932	D	0	.	19.6817	0.95967	0.0:0.0:1.0:0.0	.	172;598	B3KSJ2;Q9Y2G3	.;AT11B_HUMAN	K	598	ENSP00000321195:E598K	ENSP00000321195:E598K	E	+	1	0	ATP11B	184069739	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	9.869000	0.99810	2.653000	0.90120	0.650000	0.86243	GAG	ATP11B	-	superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl		0.289	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP11B	HGNC	protein_coding	OTTHUMT00000350598.1	G	NM_014616		182587045	+1	no_errors	ENST00000323116	ensembl	human	known	70_37	missense	SNP	1.000	A
AWAT2	158835	genome.wustl.edu	37	X	69269699	69269699	+	Splice_Site	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:69269699G>A	ENST00000276101.3	-	1	89	c.84C>T	c.(82-84)atC>atT	p.I28I		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	28					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						AAGACTCACTGATAAGCAAGG	0.512																																					NSCLC(80;1334 1436 9350 24214 26427)												0													122.0	85.0	97.0					X																	69269699		2203	4300	6503	SO:0001630	splice_region_variant	158835			BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"""multifunctional O-acyltransferase"""	300925	"""diacylglycerol O-acyltransferase 2-like 4"""	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.85+1C>T	X.37:g.69269699G>A			Q6IEE3|Q6P437	Silent	SNP	pfam_DAGAT	p.I28	ENST00000276101.3	37	c.84	CCDS35320.1	X																																																																																			AWAT2	-	NULL		0.512	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT2	HGNC	protein_coding	OTTHUMT00000358738.1	G	NM_001002254	Silent	69269699	-1	no_errors	ENST00000276101	ensembl	human	known	70_37	silent	SNP	0.012	A
BAI3	577	genome.wustl.edu	37	6	69758162	69758162	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:69758162G>A	ENST00000370598.1	+	14	3014	c.2193G>A	c.(2191-2193)tgG>tgA	p.W731*		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	731					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGGTTGACTGGGCAAGAAACT	0.383																																																	0													77.0	83.0	81.0					6																	69758162		2203	4300	6503	SO:0001587	stop_gained	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2193G>A	6.37:g.69758162G>A	ENSP00000359630:p.Trp731*		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Nonsense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.W731*	ENST00000370598.1	37	c.2193	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	48	13.913150	0.99770	.	.	ENSG00000135298	ENST00000370598	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9103	0.92481	0.0:0.0:1.0:0.0	.	.	.	.	X	731	.	ENSP00000359630:W731X	W	+	3	0	BAI3	69814883	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.547000	0.85894	0.655000	0.94253	TGG	BAI3	-	pfam_DUF3497,prints_GPCR_2_brain-spec_angio_inhib		0.383	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	G			69758162	+1	no_errors	ENST00000370598	ensembl	human	known	70_37	nonsense	SNP	1.000	A
BAIAP2-AS1	440465	genome.wustl.edu	37	17	79004699	79004699	+	lincRNA	SNP	G	G	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:79004699G>T	ENST00000577066.1	-	0	2695					NR_026857.1				BAIAP2 antisense RNA 1 (head to head)																		AGCCTGCAGTGAAAACGTCGC	0.627																																																	0																																												440465			AK027350, AK056555, AK075238, AK096609		17q25.3	2012-10-15	2012-10-15		ENSG00000226137	ENSG00000226137		"""Long non-coding RNAs"""	44342	non-coding RNA	RNA, long non-coding			"""BAIAP2 antisense RNA 1 (non-protein coding)"", ""BAIAP2 antisense RNA 1"""				Standard	NR_026857		Approved		uc002jyy.2		OTTHUMG00000177697		17.37:g.79004699G>T				RNA	SNP	-	NULL	ENST00000577066.1	37	NULL		17																																																																																			BAIAP2-AS1	-	-		0.627	BAIAP2-AS1-001	KNOWN	basic	lincRNA	BAIAP2-AS1	HGNC	lincRNA	OTTHUMT00000438544.1	G	NR_026857		79004699	-1	no_errors	ENST00000542745	ensembl	human	known	70_37	rna	SNP	0.001	T
BAZ2B	29994	genome.wustl.edu	37	2	160318979	160318979	+	Intron	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:160318979G>C	ENST00000392783.2	-	4	641				BAZ2B_ENST00000355831.2_Intron|BAZ2B_ENST00000392782.1_Intron|BAZ2B_ENST00000483316.1_5'UTR|BAZ2B_ENST00000343439.5_Intron	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CGGGTAACCGGAAGCTGCCGG	0.398																																																	0																																										SO:0001627	intron_variant	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.146-8667C>G	2.37:g.160318979G>C			D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	RNA	SNP	-	NULL	ENST00000392783.2	37	NULL	CCDS2209.2	2																																																																																			BAZ2B	-	-		0.398	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	G			160318979	-1	no_errors	ENST00000483316	ensembl	human	known	70_37	rna	SNP	1.000	C
BBS7	55212	genome.wustl.edu	37	4	122780308	122780308	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:122780308G>A	ENST00000264499.4	-	5	550	c.367C>T	c.(367-369)Ctc>Ttc	p.L123F	BBS7_ENST00000506636.1_Missense_Mutation_p.L123F	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	123					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CTTGCACTGAGAAAGAGGTCT	0.338									Bardet-Biedl syndrome																																								0													105.0	109.0	108.0					4																	122780308		2203	4300	6503	SO:0001583	missense	55212	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.367C>T	4.37:g.122780308G>A	ENSP00000264499:p.Leu123Phe		Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot	p.L123F	ENST00000264499.4	37	c.367	CCDS3724.1	4	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224741	0.79576	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	T;T	0.71934	-0.61;-0.61	5.17	5.17	0.71159	WD40 repeat-like-containing domain (1);	0.065753	0.64402	D	0.000008	T	0.80470	0.4629	M	0.77103	2.36	0.58432	D	0.99999	P	0.51537	0.946	P	0.57502	0.822	T	0.82641	-0.0357	10	0.66056	D	0.02	-8.5282	12.0686	0.53603	0.0787:0.0:0.9213:0.0	.	123	Q8IWZ6	BBS7_HUMAN	F	123	ENSP00000264499:L123F;ENSP00000423626:L123F	ENSP00000264499:L123F	L	-	1	0	BBS7	122999758	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.525000	0.67110	2.413000	0.81919	0.655000	0.94253	CTC	BBS7	-	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot		0.338	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS7	HGNC	protein_coding	OTTHUMT00000256716.1	G			122780308	-1	no_errors	ENST00000264499	ensembl	human	known	70_37	missense	SNP	1.000	A
BCAN	63827	genome.wustl.edu	37	1	156615935	156615935	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:156615935C>T	ENST00000329117.5	+	2	425	c.89C>T	c.(88-90)tCa>tTa	p.S30L	BCAN_ENST00000361588.5_Missense_Mutation_p.S30L|RP11-284F21.7_ENST00000448869.1_RNA|RP11-284F21.10_ENST00000605886.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	30					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGAGACAGCTCAGGTAAGCAA	0.602																																																	0													39.0	39.0	39.0					1																	156615935		2203	4300	6503	SO:0001583	missense	63827			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.89C>T	1.37:g.156615935C>T	ENSP00000331210:p.Ser30Leu		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII	p.S30L	ENST00000329117.5	37	c.89	CCDS1149.1	1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383337	0.42207	.	.	ENSG00000132692	ENST00000441358;ENST00000255029;ENST00000329117;ENST00000457777;ENST00000424639;ENST00000361588	T;T;T;T;T	0.24350	1.86;2.43;2.69;2.11;3.14	4.32	4.32	0.51571	.	0.603260	0.13708	N	0.368358	T	0.13286	0.0322	L	0.34521	1.04	0.40377	D	0.9794	B;B	0.33883	0.43;0.377	B;B	0.37198	0.243;0.117	T	0.05305	-1.0893	10	0.66056	D	0.02	-5.7178	12.4825	0.55852	0.0:1.0:0.0:0.0	.	30;30	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	L	30	ENSP00000392731:S30L;ENSP00000331210:S30L;ENSP00000389898:S30L;ENSP00000401709:S30L;ENSP00000354925:S30L	ENSP00000255029:S30L	S	+	2	0	BCAN	154882559	0.997000	0.39634	1.000000	0.80357	0.436000	0.31835	1.167000	0.31847	2.404000	0.81709	0.462000	0.41574	TCA	BCAN	-	NULL		0.602	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAN	HGNC	protein_coding	OTTHUMT00000081844.2	C	NM_021948		156615935	+1	no_errors	ENST00000329117	ensembl	human	known	70_37	missense	SNP	1.000	T
BIRC6	57448	genome.wustl.edu	37	2	32716581	32716581	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:32716581C>T	ENST00000421745.2	+	44	8430	c.8296C>T	c.(8296-8298)Ctt>Ttt	p.L2766F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2766					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGTGAAATTTCTTTCTGGCAC	0.398																																					Pancreas(94;175 1509 16028 18060 45422)												0													162.0	149.0	154.0					2																	32716581		2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.8296C>T	2.37:g.32716581C>T	ENSP00000393596:p.Leu2766Phe		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.L2766F	ENST00000421745.2	37	c.8296	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282991	0.59867	.	.	ENSG00000115760	ENST00000421745	T	0.81247	-1.47	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	D	0.84629	0.5514	L	0.29908	0.895	0.58432	D	0.999996	D	0.65815	0.995	D	0.72982	0.979	T	0.82973	-0.0191	10	0.33940	T	0.23	.	19.5565	0.95351	0.0:1.0:0.0:0.0	.	2766	Q9NR09	BIRC6_HUMAN	F	2766	ENSP00000393596:L2766F	ENSP00000393596:L2766F	L	+	1	0	BIRC6	32570085	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.455000	0.66658	2.626000	0.88956	0.467000	0.42956	CTT	BIRC6	-	NULL		0.398	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	C	NM_016252		32716581	+1	no_errors	ENST00000421745	ensembl	human	known	70_37	missense	SNP	1.000	T
BLOC1S6	26258	genome.wustl.edu	37	15	45879568	45879568	+	5'UTR	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr15:45879568G>A	ENST00000220531.3	+	0	248				BLOC1S6_ENST00000567740.1_3'UTR|BLOC1S6_ENST00000567461.1_5'UTR|BLOC1S6_ENST00000565323.1_5'Flank|BLOC1S6_ENST00000562384.1_5'UTR|BLOC1S6_ENST00000565409.1_5'Flank|RP11-96O20.4_ENST00000564080.1_5'UTR|BLOC1S6_ENST00000568816.1_5'Flank|BLOC1S6_ENST00000564765.1_5'Flank|BLOC1S6_ENST00000566753.1_5'UTR|BLOC1S6_ENST00000565216.1_5'Flank	NM_012388.2	NP_036520.1	Q9UL45	BL1S6_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 6, pallidin						anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|endosome to melanosome transport (GO:0035646)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of pigment cell differentiation (GO:0050942)|post-Golgi vesicle-mediated transport (GO:0006892)|secretion of lysosomal enzymes (GO:0033299)|synaptic vesicle docking involved in exocytosis (GO:0016081)	BLOC-1 complex (GO:0031083)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|transport vesicle (GO:0030133)	actin filament binding (GO:0051015)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)										GCCAGCCGCTGGAGTCGTTAG	0.622																																																	0																																										SO:0001623	5_prime_UTR_variant	26258			AF080470	CCDS10126.1	15q21.1	2013-09-27	2012-08-07	2012-08-01	ENSG00000104164	ENSG00000104164		"""Biogenesis of lysosomal organelles complex-1 subunits"""	8549	protein-coding gene	gene with protein product		604310	"""pallid (mouse) homolog, pallidin"", ""pallidin homolog (mouse)"""	PA, PLDN		10610180	Standard	NM_012388		Approved	HPS9	uc001zvq.3	Q9UL45	OTTHUMG00000131477	ENST00000220531.3:c.-74G>A	15.37:g.45879568G>A				RNA	SNP	-	NULL	ENST00000220531.3	37	NULL	CCDS10126.1	15																																																																																			BLOC1S6	-	-		0.622	BLOC1S6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLOC1S6	HGNC	protein_coding	OTTHUMT00000254320.2	G	NM_012388		45879568	+1	no_errors	ENST00000567740	ensembl	human	putative	70_37	rna	SNP	0.000	A
BMI1	648	genome.wustl.edu	37	10	22618360	22618360	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:22618360C>T	ENST00000376663.3	+	10	1375	c.870C>T	c.(868-870)tcC>tcT	p.S290S	COMMD3-BMI1_ENST00000602390.1_Silent_p.S433S|RP11-573G6.9_ENST00000606988.1_lincRNA	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	290	Pro/Ser-rich.				chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						CTCACATTTCCAGTACTATGA	0.493																																																	0													160.0	146.0	151.0					10																	22618360		2203	4300	6503	SO:0001819	synonymous_variant	648			BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	1066	protein-coding gene	gene with protein product		164831	"""polycomb group ring finger 4"", ""B lymphoma Mo-MLV insertion region 1 homolog (mouse)"""	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.870C>T	10.37:g.22618360C>T			Q16030|Q5T8Z3|Q96F37	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S290	ENST00000376663.3	37	c.870	CCDS7138.1	10																																																																																			BMI1	-	NULL		0.493	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMI1	HGNC	protein_coding	OTTHUMT00000047176.1	C	NM_005180		22618360	+1	no_errors	ENST00000376663	ensembl	human	known	70_37	silent	SNP	1.000	T
BRE	9577	genome.wustl.edu	37	2	28117479	28117479	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:28117479C>G	ENST00000342045.2	+	3	197	c.56C>G	c.(55-57)tCt>tGt	p.S19C	BRE_ENST00000379632.2_Missense_Mutation_p.S19C|BRE_ENST00000603461.1_Intron|BRE_ENST00000379624.1_Missense_Mutation_p.S19C|BRE_ENST00000344773.2_Missense_Mutation_p.S19C|BRE_ENST00000361704.2_Missense_Mutation_p.S19C	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CCTTTCATATCTAGCGTGGTC	0.418																																																	0													240.0	222.0	228.0					2																	28117479		2203	4300	6503	SO:0001583	missense	9577			AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.56C>G	2.37:g.28117479C>G	ENSP00000339371:p.Ser19Cys			Missense_Mutation	SNP	pfam_Brain/reproduct-express_prot	p.S19C	ENST00000342045.2	37	c.56	CCDS1763.1	2	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048497	0.55110	.	.	ENSG00000158019	ENST00000436924;ENST00000344773;ENST00000379624;ENST00000342045;ENST00000379632;ENST00000361704;ENST00000379629	.	.	.	5.91	5.91	0.95273	.	0.117600	0.64402	D	0.000013	T	0.60599	0.2281	N	0.08118	0	0.48696	D	0.999693	D;B;B;D	0.76494	0.999;0.001;0.001;0.974	D;B;B;D	0.79108	0.992;0.002;0.002;0.965	T	0.67197	-0.5731	9	0.51188	T	0.08	-26.7327	19.07	0.93130	0.0:1.0:0.0:0.0	.	19;19;19;19	Q9NXR7-1;Q9NXR7;Q9NXR7-4;Q9NXR7-3	.;BRE_HUMAN;.;.	C	19	.	ENSP00000339371:S19C	S	+	2	0	BRE	27970983	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	5.304000	0.65744	2.793000	0.96121	0.655000	0.94253	TCT	BRE	-	pfam_Brain/reproduct-express_prot		0.418	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	BRE	HGNC	protein_coding	OTTHUMT00000215114.1	C			28117479	+1	no_errors	ENST00000344773	ensembl	human	known	70_37	missense	SNP	1.000	G
BZW1	9689	genome.wustl.edu	37	2	201686900	201686900	+	Nonstop_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:201686900G>C	ENST00000409600.1	+	12	1714	c.1259G>C	c.(1258-1260)tGa>tCa	p.*420S	BZW1_ENST00000452790.2_Nonstop_Mutation_p.*452S|RP11-469M7.1_ENST00000568571.1_lincRNA|BZW1_ENST00000409226.1_Nonstop_Mutation_p.*424S	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						GAAGGTGACTGAATTTTGAAA	0.368																																																	0													75.0	66.0	69.0					2																	201686900		1822	4077	5899	SO:0001578	stop_lost	9689			D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.1259G>C	2.37:g.201686900G>C	ENSP00000386474:p.*420Serext*8		B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Nonstop_Mutation	SNP	pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain	p.*420S	ENST00000409600.1	37	c.1259	CCDS56156.1	2	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873669	0.51695	.	.	ENSG00000082153	ENST00000409600;ENST00000409226;ENST00000452790	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7679	0.57403	0.0793:0.0:0.9207:0.0	.	.	.	.	S	420;424;452	.	.	X	+	2	2	BZW1	201395145	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.132000	0.71676	2.639000	0.89480	0.460000	0.39030	TGA	BZW1	-	NULL		0.368	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BZW1	HGNC	protein_coding	OTTHUMT00000335975.1	G	NM_014670		201686900	+1	no_errors	ENST00000409600	ensembl	human	known	70_37	nonstop	SNP	1.000	C
ADIRF	10974	genome.wustl.edu	37	10	88729991	88729991	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:88729991G>A	ENST00000372013.3	+	2	449	c.96G>A	c.(94-96)gtG>gtA	p.V32V	RP11-96C23.5_ENST00000433214.2_RNA|ADIRF-AS1_ENST00000418273.2_RNA|ADIRF-AS1_ENST00000609111.1_RNA|RP11-96C23.15_ENST00000609363.1_RNA|ADIRF-AS1_ENST00000440490.1_RNA	NM_006829.2	NP_006820.1	Q15847	ADIRF_HUMAN	adipogenesis regulatory factor	32					cell differentiation (GO:0030154)|cellular response to cisplatin (GO:0072719)|cellular response to radiation (GO:0071478)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of response to drug (GO:2001023)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											AGCAAGTGGTGGACCAGGCCA	0.672																																																	0													20.0	25.0	23.0					10																	88729991		2166	4248	6414	SO:0001819	synonymous_variant	10974			BC004471	CCDS7381.1	10q23.31	2013-02-20	2013-02-20	2013-02-20	ENSG00000148671	ENSG00000148671			24043	protein-coding gene	gene with protein product	"""adipose specific 2"", ""adipose most abundant gene transcript 2"", ""adipogenesis factor rich in obesity"""		"""chromosome 10 open reading frame 116"""	C10orf116		8619847, 23239344	Standard	NM_006829		Approved	APM2, AFRO	uc001ked.2	Q15847	OTTHUMG00000018668	ENST00000372013.3:c.96G>A	10.37:g.88729991G>A				Silent	SNP	NULL	p.V32	ENST00000372013.3	37	c.96	CCDS7381.1	10																																																																																			C10orf116	-	NULL		0.672	ADIRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf116	HGNC	protein_coding	OTTHUMT00000049194.1	G	NM_006829		88729991	+1	no_errors	ENST00000372013	ensembl	human	known	70_37	silent	SNP	0.997	A
CFAP54	144535	genome.wustl.edu	37	12	97084972	97084972	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:97084972C>G	ENST00000524981.4	+	44	6171	c.6148C>G	c.(6148-6150)Cag>Gag	p.Q2050E				Q96N23	CL055_HUMAN		0																	TGAAATCACTCAGCTTCTCCC	0.383																																																	0													135.0	124.0	128.0					12																	97084972		2203	4300	6503	SO:0001583	missense	144535																														ENST00000524981.4:c.6148C>G	12.37:g.97084972C>G	ENSP00000431759:p.Gln2050Glu			Missense_Mutation	SNP	NULL	p.Q475E	ENST00000524981.4	37	c.1423		12	.	.	.	.	.	.	.	.	.	.	C	0.340	-0.950803	0.02285	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.73	4.79	0.61399	.	0.227351	0.36002	N	0.002844	T	0.13798	0.0334	.	.	.	0.27950	N	0.937171	B	0.29136	0.234	B	0.25506	0.061	T	0.24512	-1.0158	8	0.02654	T	1	-15.6009	9.1269	0.36821	0.2399:0.6419:0.1182:0.0	.	475	Q6ZTY8	CL063_HUMAN	E	2050;475	.	ENSP00000345466:Q475E	Q	+	1	0	C12orf63	95609103	0.920000	0.31207	1.000000	0.80357	0.011000	0.07611	2.154000	0.42291	2.854000	0.98071	0.655000	0.94253	CAG	C12orf55	-	NULL		0.383	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	C			97084972	+1	no_errors	ENST00000342887	ensembl	human	known	70_37	missense	SNP	0.918	G
C16orf89	146556	genome.wustl.edu	37	16	5115922	5115922	+	5'UTR	SNP	C	C	T	rs370754766		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:5115922C>T	ENST00000315997.5	-	0	189				C16orf89_ENST00000472572.3_5'UTR|C16orf89_ENST00000350219.4_Silent_p.E34E|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000474471.3_5'UTR|C16orf89_ENST00000422873.1_Silent_p.E34E	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89							cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CCGGCCTCTGCTCACTGCTGG	0.667																																																	0								C	,	1,4125		0,1,2062	20.0	25.0	23.0		,	1.7	0.0	16		23	0,8416		0,0,4208	no	utr-5,utr-5	C16orf89	NM_001098514.2,NM_152459.4	,	0,1,6270	TT,TC,CC		0.0,0.0242,0.0080	,	,	5115922	1,12541	2063	4208	6271	SO:0001623	5_prime_UTR_variant	146556				CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.-13G>A	16.37:g.5115922C>T			B4DUM5|Q8N2I3|Q8N4T1	Silent	SNP	NULL	p.E34	ENST00000315997.5	37	c.102	CCDS42116.2	16																																																																																			C16orf89	-	NULL		0.667	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	C16orf89	HGNC	protein_coding	OTTHUMT00000354524.1	C	NM_152459		5115922	-1	no_errors	ENST00000350219	ensembl	human	known	70_37	silent	SNP	0.000	T
C19orf45	374877	genome.wustl.edu	37	19	7570449	7570449	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:7570449G>A	ENST00000361664.2	+	6	1083	c.942G>A	c.(940-942)ctG>ctA	p.L314L	CTD-2207O23.12_ENST00000599312.1_5'Flank	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	314										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						CGCACATCCTGAAAGGAAATT	0.607																																																	0													47.0	52.0	50.0					19																	7570449		2203	4300	6503	SO:0001819	synonymous_variant	374877			BC029824	CCDS12179.2	19p13.2	2008-02-05			ENSG00000198723	ENSG00000198723			24745	protein-coding gene	gene with protein product						12477932	Standard	NM_198534		Approved	FLJ35784	uc002mgm.2	Q8NA69	OTTHUMG00000157183	ENST00000361664.2:c.942G>A	19.37:g.7570449G>A			Q8N115	Silent	SNP	NULL	p.L314	ENST00000361664.2	37	c.942	CCDS12179.2	19																																																																																			C19orf45	-	NULL		0.607	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf45	HGNC	protein_coding	OTTHUMT00000347808.1	G	NM_198534		7570449	+1	no_errors	ENST00000361664	ensembl	human	known	70_37	silent	SNP	1.000	A
C1orf216	127703	genome.wustl.edu	37	1	36181736	36181736	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:36181736C>G	ENST00000270815.4	-	2	957	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	C1orf216_ENST00000503824.1_5'Flank	NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	63										kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GAGGGTGACTCAGAGGAGCTC	0.602											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													85.0	82.0	83.0					1																	36181736		2203	4300	6503	SO:0001583	missense	127703			AK096303	CCDS395.1	1p34.3	2007-08-10			ENSG00000142686	ENSG00000142686			26800	protein-coding gene	gene with protein product						12477932	Standard	NM_152374		Approved	FLJ38984	uc001bzh.1	Q8TAB5	OTTHUMG00000004167	ENST00000270815.4:c.187G>C	1.37:g.36181736C>G	ENSP00000425166:p.Glu63Gln	861	D3DPS1|Q8N8N6	Missense_Mutation	SNP	NULL	p.E63Q	ENST00000270815.4	37	c.187	CCDS395.1	1	.	.	.	.	.	.	.	.	.	.	C	7.696	0.691985	0.15039	.	.	ENSG00000142686	ENST00000270815;ENST00000422623	.	.	.	4.32	-1.39	0.08997	.	0.736150	0.12396	N	0.472559	T	0.26448	0.0646	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.20840	-1.0263	9	0.41790	T	0.15	-13.0526	1.9416	0.03348	0.1287:0.4174:0.1262:0.3276	.	63	Q8TAB5	CA216_HUMAN	Q	63	.	ENSP00000425166:E63Q	E	-	1	0	C1orf216	35954323	0.109000	0.22037	0.000000	0.03702	0.538000	0.34931	0.678000	0.25277	-0.049000	0.13379	0.561000	0.74099	GAG	C1orf216	-	NULL		0.602	C1orf216-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf216	HGNC	protein_coding	OTTHUMT00000012013.3	C	NM_152374		36181736	-1	no_errors	ENST00000270815	ensembl	human	known	70_37	missense	SNP	0.000	G
C1orf61	10485	genome.wustl.edu	37	1	156382478	156382478	+	Intron	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:156382478C>T	ENST00000368243.1	-	4	288					NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61							nucleus (GO:0005634)				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					GGTAGGCTTTCAGTGCACACC	0.537																																																	0																																										SO:0001627	intron_variant	10485				CCDS1142.1	1q22	2014-03-17			ENSG00000125462	ENSG00000125462			30780	protein-coding gene	gene with protein product	"""contingent replication of cDNA-4"", ""transcriptional activator of the c fos promoter"""					10995546, 23012322	Standard	XM_005244832		Approved	CROC4	uc001fou.1	Q13536	OTTHUMG00000031022	ENST00000368243.1:c.171+1967G>A	1.37:g.156382478C>T			B1ALL5|B1ALL8	RNA	SNP	-	NULL	ENST00000368243.1	37	NULL	CCDS1142.1	1																																																																																			C1orf61	-	-		0.537	C1orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf61	HGNC	protein_coding	OTTHUMT00000075988.1	C	NM_006365		156382478	-1	no_errors	ENST00000465570	ensembl	human	known	70_37	rna	SNP	0.001	T
C1orf116	79098	genome.wustl.edu	37	1	207196117	207196117	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:207196117C>A	ENST00000359470.5	-	4	1241	c.992G>T	c.(991-993)gGa>gTa	p.G331V	C1orf116_ENST00000461135.2_Missense_Mutation_p.G85V	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	331						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GCCAGAATCTCCAGGGGCAGC	0.562																																																	0													41.0	45.0	43.0					1																	207196117		2203	4300	6503	SO:0001583	missense	79098				CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.992G>T	1.37:g.207196117C>A	ENSP00000352447:p.Gly331Val		C9JV41|Q658X3	Missense_Mutation	SNP	NULL	p.G331V	ENST00000359470.5	37	c.992	CCDS1475.1	1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610992	0.28712	.	.	ENSG00000182795	ENST00000359470;ENST00000461135	T;T	0.09630	2.96;2.96	4.46	1.3	0.21679	.	0.332875	0.31167	N	0.008140	T	0.17195	0.0413	L	0.46157	1.445	0.18873	N	0.999988	D	0.59357	0.985	P	0.55824	0.785	T	0.04752	-1.0929	10	0.62326	D	0.03	-3.512	9.5068	0.39051	0.152:0.404:0.444:0.0	.	331	Q9BW04	SARG_HUMAN	V	331;85	ENSP00000352447:G331V;ENSP00000436862:G85V	ENSP00000352447:G331V	G	-	2	0	C1orf116	205262740	0.019000	0.18553	0.002000	0.10522	0.208000	0.24298	0.497000	0.22514	-0.025000	0.13918	0.561000	0.74099	GGA	C1orf116	-	NULL		0.562	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf116	HGNC	protein_coding	OTTHUMT00000088973.1	C	NM_024115		207196117	-1	no_errors	ENST00000359470	ensembl	human	known	70_37	missense	SNP	0.003	A
C3orf27	23434	genome.wustl.edu	37	3	128292452	128292452	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:128292452G>A	ENST00000356020.2	-	3	1087	c.121C>T	c.(121-123)Ctg>Ttg	p.L41L		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	41										large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		CCCTGGCCCAGGGTGCCTAGG	0.642																																																	0													35.0	38.0	37.0					3																	128292452		2203	4300	6503	SO:0001819	synonymous_variant	23434			AF008192	CCDS3050.1	3q21	2005-12-19			ENSG00000198685	ENSG00000198685			17099	protein-coding gene	gene with protein product						9307271	Standard	NR_125802		Approved	GR6	uc003ekq.3	O15544	OTTHUMG00000159688	ENST00000356020.2:c.121C>T	3.37:g.128292452G>A				Silent	SNP	NULL	p.L41	ENST00000356020.2	37	c.121	CCDS3050.1	3																																																																																			C3orf27	-	NULL		0.642	C3orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf27	HGNC	protein_coding	OTTHUMT00000356924.1	G	NM_007354		128292452	-1	no_errors	ENST00000356020	ensembl	human	known	70_37	silent	SNP	0.000	A
C6	729	genome.wustl.edu	37	5	41149429	41149429	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:41149429C>T	ENST00000263413.3	-	17	2801	c.2537G>A	c.(2536-2538)gGt>gAt	p.G846D	C6_ENST00000337836.5_Missense_Mutation_p.G846D	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	846	C5b-binding domain.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCTTTCAAGACCCCATTCTAA	0.428																																																	0													169.0	162.0	164.0					5																	41149429		2203	4300	6503	SO:0001583	missense	729			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2537G>A	5.37:g.41149429C>T	ENSP00000263413:p.Gly846Asp			Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.G846D	ENST00000263413.3	37	c.2537	CCDS3936.1	5	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353084	0.41700	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.60424	0.19;0.19	5.85	4.97	0.65823	.	0.428590	0.26180	N	0.025862	T	0.30854	0.0778	N	0.08118	0	0.34831	D	0.739681	P	0.36465	0.554	B	0.27608	0.081	T	0.46938	-0.9155	10	0.54805	T	0.06	-9.7035	8.1813	0.31313	0.0:0.6319:0.2756:0.0925	.	846	P13671	CO6_HUMAN	D	846	ENSP00000338861:G846D;ENSP00000263413:G846D	ENSP00000263413:G846D	G	-	2	0	C6	41185186	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	2.316000	0.43761	2.768000	0.95171	0.655000	0.94253	GGT	C6	-	NULL		0.428	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	HGNC	protein_coding	OTTHUMT00000211592.1	C			41149429	-1	no_errors	ENST00000263413	ensembl	human	known	70_37	missense	SNP	0.988	T
CACNA1A	773	genome.wustl.edu	37	19	13409479	13409479	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:13409479C>T	ENST00000360228.5	-	19	2967	c.2968G>A	c.(2968-2970)Gag>Aag	p.E990K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E991K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	991					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	ccctcgccctcgccgccccgg	0.786																																																	0													7.0	6.0	7.0					19																	13409479		1181	2419	3600	SO:0001583	missense	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2968G>A	19.37:g.13409479C>T	ENSP00000353362:p.Glu990Lys		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.E990K	ENST00000360228.5	37	c.2968	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587110	0.28268	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95821	-3.82	3.89	3.89	0.44902	.	1.259060	0.05609	N	0.577850	D	0.93197	0.7833	L	0.52573	1.65	0.28497	N	0.914179	B;B;B	0.15473	0.011;0.013;0.001	B;B;B	0.09377	0.004;0.003;0.001	T	0.78682	-0.2109	10	0.07482	T	0.82	.	14.6318	0.68660	0.0:1.0:0.0:0.0	.	991;994;990	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	K	990;994;991;991	ENSP00000353362:E990K	ENSP00000317661:E991K	E	-	1	0	CACNA1A	13270479	0.744000	0.28250	0.988000	0.46212	0.367000	0.29736	3.653000	0.54446	1.732000	0.51606	0.462000	0.41574	GAG	CACNA1A	-	NULL		0.786	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2	C	NM_000068		13409479	-1	no_errors	ENST00000360228	ensembl	human	known	70_37	missense	SNP	0.997	T
CACNA1H	8912	genome.wustl.edu	37	16	1251944	1251944	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:1251944G>A	ENST00000348261.5	+	9	1742	c.1494G>A	c.(1492-1494)caG>caA	p.Q498Q	CACNA1H_ENST00000358590.4_Silent_p.Q498Q|CACNA1H_ENST00000565831.1_Silent_p.Q498Q	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	498					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TGCAAGGCCAGGGTCCCGGGC	0.667																																																	0													4.0	5.0	5.0					16																	1251944		1835	3699	5534	SO:0001819	synonymous_variant	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.1494G>A	16.37:g.1251944G>A			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.Q498	ENST00000348261.5	37	c.1494	CCDS45375.1	16																																																																																			CACNA1H	-	NULL		0.667	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	G	NM_001005407		1251944	+1	no_errors	ENST00000348261	ensembl	human	known	70_37	silent	SNP	1.000	A
CACNA2D3	55799	genome.wustl.edu	37	3	55107697	55107697	+	Intron	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:55107697G>A	ENST00000474759.1	+	37	3148				CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000478261.1_3'UTR	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3							integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	CCTTTCCACTGTTGGAGAGAG	0.423																																																	0																																										SO:0001627	intron_variant	55799			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.3101-107G>A	3.37:g.55107697G>A			B2RPL6|Q9NY16|Q9NY18	RNA	SNP	-	NULL	ENST00000474759.1	37	NULL	CCDS54598.1	3																																																																																			CACNA2D3	-	-		0.423	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	HGNC	protein_coding	OTTHUMT00000351402.1	G			55107697	+1	no_errors	ENST00000478261	ensembl	human	known	70_37	rna	SNP	0.000	A
CACNB1	782	genome.wustl.edu	37	17	37343127	37343127	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:37343127C>G	ENST00000394303.3	-	5	677	c.470G>C	c.(469-471)gGc>gCc	p.G157A	CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000394310.3_Missense_Mutation_p.G157A|CACNB1_ENST00000344140.5_Missense_Mutation_p.G157A	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	157	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGAATGAAGCCAACCTCACA	0.582																																					Esophageal Squamous(5;100 366 38393 41452 45827)												0													70.0	65.0	66.0					17																	37343127		2203	4300	6503	SO:0001583	missense	782				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.470G>C	17.37:g.37343127C>G	ENSP00000377840:p.Gly157Ala		A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su	p.G157A	ENST00000394303.3	37	c.470	CCDS42311.1	17	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647979	0.87958	.	.	ENSG00000067191	ENST00000539338;ENST00000394303;ENST00000344140;ENST00000394310;ENST00000536613	D;D;D	0.97870	-4.58;-4.58;-4.58	5.06	5.06	0.68205	Src homology-3 domain (3);	0.053169	0.85682	D	0.000000	D	0.98695	0.9562	M	0.82716	2.605	0.80722	D	1	D;D;P;P;D	0.89917	0.999;1.0;0.65;0.886;0.983	D;D;B;B;P	0.87578	0.994;0.998;0.109;0.283;0.631	D	0.99449	1.0940	10	0.52906	T	0.07	-23.6935	17.1868	0.86868	0.0:1.0:0.0:0.0	.	110;157;157;157;157	F5H6X1;Q6TME4;Q02641-2;Q02641-3;Q02641	.;.;.;.;CACB1_HUMAN	A	107;157;157;157;110	ENSP00000377840:G157A;ENSP00000345461:G157A;ENSP00000377847:G157A	ENSP00000345461:G157A	G	-	2	0	CACNB1	34596653	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.986000	0.70563	2.362000	0.80069	0.313000	0.20887	GGC	CACNB1	-	superfamily_SH3_domain,pfscan_SH3_domain		0.582	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACNB1	HGNC	protein_coding	OTTHUMT00000256945.3	C			37343127	-1	no_errors	ENST00000394303	ensembl	human	known	70_37	missense	SNP	1.000	G
CACNB4	785	genome.wustl.edu	37	2	152711885	152711885	+	Missense_Mutation	SNP	T	T	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:152711885T>G	ENST00000539935.1	-	11	940	c.873A>C	c.(871-873)gaA>gaC	p.E291D	CACNB4_ENST00000427385.1_Missense_Mutation_p.E273D|CACNB4_ENST00000397327.2_Missense_Mutation_p.E244D|CACNB4_ENST00000360283.6_Missense_Mutation_p.E258D|CACNB4_ENST00000201943.5_Missense_Mutation_p.E291D|CACNB4_ENST00000534999.1_Missense_Mutation_p.E257D	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	291					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CACTTTGTACTTCCGCTTAAA	0.323																																																	0													65.0	61.0	62.0					2																	152711885		1819	4084	5903	SO:0001583	missense	785			AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.873A>C	2.37:g.152711885T>G	ENSP00000438949:p.Glu291Asp		A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu	p.E292D	ENST00000539935.1	37	c.876	CCDS46426.1	2	.	.	.	.	.	.	.	.	.	.	T	24.6	4.554829	0.86231	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.89	5.89	0.94794	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	T	0.73621	0.3610	M	0.90595	3.13	0.80722	D	1	P;P;D;P	0.53619	0.874;0.898;0.961;0.876	P;D;D;P	0.66351	0.88;0.911;0.943;0.855	T	0.77728	-0.2479	10	0.48119	T	0.1	-22.5652	16.3127	0.82898	0.0:0.0:0.0:1.0	.	291;291;273;257	A7BJ74;O00305;B4DG40;O00305-2	.;CACB4_HUMAN;.;.	D	291;258;248;286;257;244;273;291;292	ENSP00000438949:E291D;ENSP00000353425:E258D;ENSP00000390161:E286D;ENSP00000443893:E257D;ENSP00000380490:E244D;ENSP00000410978:E273D;ENSP00000201943:E291D	ENSP00000201943:E291D	E	-	3	2	CACNB4	152420131	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.607000	0.54102	2.246000	0.74042	0.533000	0.62120	GAA	CACNB4	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,prints_VDCC_L_bsu		0.323	CACNB4-001	KNOWN	basic|CCDS	protein_coding	CACNB4	HGNC	protein_coding	OTTHUMT00000338385.4	T	NM_000726.3		152711885	-1	no_errors	ENST00000339254	ensembl	human	known	70_37	missense	SNP	1.000	G
CALCOCO2	10241	genome.wustl.edu	37	17	46928958	46928958	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:46928958G>T	ENST00000258947.3	+	7	771	c.670G>T	c.(670-672)Gag>Tag	p.E224*	CALCOCO2_ENST00000509507.1_Nonsense_Mutation_p.E245*|CALCOCO2_ENST00000416445.2_Nonsense_Mutation_p.E182*|CALCOCO2_ENST00000448105.2_Nonsense_Mutation_p.E248*|CALCOCO2_ENST00000508679.1_Nonsense_Mutation_p.E152*	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	224					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						CTCAGAAAATGAGAAGATGGG	0.428																																																	0													172.0	157.0	162.0					17																	46928958		2203	4300	6503	SO:0001587	stop_gained	10241			BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.670G>T	17.37:g.46928958G>T	ENSP00000258947:p.Glu224*		B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Nonsense_Mutation	SNP	pfam_CoCoA	p.E224*	ENST00000258947.3	37	c.670	CCDS11538.1	17	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362355	0.82353	.	.	ENSG00000136436	ENST00000258947;ENST00000509507;ENST00000448105;ENST00000513119;ENST00000416445;ENST00000508679	.	.	.	5.47	4.5	0.54988	.	0.213543	0.32935	N	0.005463	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-16.8139	10.2589	0.43414	0.0892:0.0:0.9108:0.0	.	.	.	.	X	224;245;248;152;182;152	.	ENSP00000258947:E224X	E	+	1	0	CALCOCO2	44283957	1.000000	0.71417	0.997000	0.53966	0.514000	0.34195	2.204000	0.42761	1.549000	0.49425	-0.137000	0.14449	GAG	CALCOCO2	-	pfam_CoCoA		0.428	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALCOCO2	HGNC	protein_coding	OTTHUMT00000360866.1	G	NM_005831		46928958	+1	no_errors	ENST00000258947	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CARS	833	genome.wustl.edu	37	11	3023800	3023800	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:3023800C>G	ENST00000397111.5	-	20	2244	c.1999G>C	c.(1999-2001)Gag>Cag	p.E667Q	CARS_ENST00000401769.3_Missense_Mutation_p.E680Q|CARS_ENST00000380525.4_Missense_Mutation_p.E750Q|CARS_ENST00000470221.2_Intron|CARS_ENST00000278224.9_Missense_Mutation_p.E667Q|CARS_ENST00000397114.3_Missense_Mutation_p.E657Q			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	667					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CGGGCCGCCTCCTCTTTCTTC	0.572			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)			Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0													271.0	253.0	259.0					11																	3023800		2202	4298	6500	SO:0001583	missense	833			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1999G>C	11.37:g.3023800C>G	ENSP00000380300:p.Glu667Gln		Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase	p.E750Q	ENST00000397111.5	37	c.2248	CCDS7742.1	11	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395464	0.42512	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	3.54	3.54	0.40534	.	0.132836	0.49305	D	0.000146	T	0.53997	0.1831	M	0.70275	2.135	0.48341	D	0.999633	B;B;P;P;B;P	0.48640	0.006;0.107;0.913;0.734;0.049;0.913	B;B;B;P;B;P	0.49637	0.017;0.094;0.339;0.617;0.027;0.459	T	0.56111	-0.8033	10	0.36615	T	0.2	-8.348	12.3261	0.55011	0.0:1.0:0.0:0.0	.	680;750;667;667;750;657	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	Q	750;667;667;657;680	ENSP00000369897:E750Q;ENSP00000380300:E667Q;ENSP00000278224:E667Q;ENSP00000380303:E657Q;ENSP00000384069:E680Q	ENSP00000278224:E667Q	E	-	1	0	CARS	2980376	1.000000	0.71417	0.994000	0.49952	0.218000	0.24690	3.814000	0.55643	1.995000	0.58328	0.467000	0.42956	GAG	CARS	-	NULL		0.572	CARS-001	KNOWN	basic|CCDS	protein_coding	CARS	HGNC	protein_coding	OTTHUMT00000030117.4	C	NM_001751		3023800	-1	no_errors	ENST00000380525	ensembl	human	known	70_37	missense	SNP	1.000	G
CAPRIN1	4076	genome.wustl.edu	37	11	34121474	34121474	+	3'UTR	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:34121474C>T	ENST00000341394.4	+	0	2879				CAPRIN1_ENST00000532820.1_3'UTR|CAPRIN1_ENST00000533657.1_3'UTR	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1						negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GGCTGGCTACCAGCTTTGACA	0.393																																																	0																																										SO:0001624	3_prime_UTR_variant	4076			BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"""cytoplasmic activation/proliferation-associated protein-1"""	601178	"""membrane component, chromosome 11, surface marker 1"", ""GPI-anchored membrane protein 1"""	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.*560C>T	11.37:g.34121474C>T			A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	RNA	SNP	-	NULL	ENST00000341394.4	37	NULL	CCDS31453.1	11																																																																																			CAPRIN1	-	-		0.393	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	CAPRIN1	HGNC	protein_coding	OTTHUMT00000388680.2	C	NM_005898		34121474	+1	no_errors	ENST00000533657	ensembl	human	known	70_37	rna	SNP	0.956	T
CAPN1	823	genome.wustl.edu	37	11	64950427	64950427	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:64950427G>A	ENST00000527323.1	+	1	495	c.255G>A	c.(253-255)tgG>tgA	p.W85*	CAPN1_ENST00000524773.1_Nonsense_Mutation_p.W85*|AP003068.23_ENST00000526623.1_5'Flank|CAPN1_ENST00000533129.1_Nonsense_Mutation_p.W85*|CAPN1_ENST00000279247.6_Nonsense_Mutation_p.W85*|CAPN1_ENST00000533820.1_Nonsense_Mutation_p.W85*|CAPN1_ENST00000527469.1_3'UTR			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	85	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		GCATCAAGTGGAAGCGTCCCA	0.612																																																	0													36.0	40.0	39.0					11																	64950427		1998	4159	6157	SO:0001587	stop_gained	823			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.255G>A	11.37:g.64950427G>A	ENSP00000431984:p.Trp85*		Q2TTR0|Q6DHV4	Nonsense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.W85*	ENST00000527323.1	37	c.255	CCDS44644.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.521716|5.521716	0.96416|0.96416	.|.	.|.	ENSG00000014216|ENSG00000014216	ENST00000259755|ENST00000528396;ENST00000529133;ENST00000533820;ENST00000530571;ENST00000527739;ENST00000526966;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000534373;ENST00000531068;ENST00000527699;ENST00000533909;ENST00000527323	.|.	.|.	.|.	5.13|5.13	4.21|4.21	0.49690|0.49690	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.64757|.	0.2627|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.76195|.	-0.3048|.	4|.	0.87932|0.87932	D|D	0|0	.|.	10.6464|10.6464	0.45623|0.45623	0.0929:0.0:0.9071:0.0|0.0929:0.0:0.9071:0.0	.|.	.|.	.|.	.|.	E|X	55|85	.|.	ENSP00000259755:G55E|ENSP00000279247:W85X	G|W	+|+	2|3	0|0	CAPN1|CAPN1	64707003|64707003	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	9.826000|9.826000	0.99387|0.99387	2.397000|2.397000	0.81536|0.81536	0.561000|0.561000	0.74099|0.74099	GGA|TGG	CAPN1	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease		0.612	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CAPN1	HGNC	protein_coding	OTTHUMT00000385325.1	G			64950427	+1	no_errors	ENST00000279247	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CASC3	22794	genome.wustl.edu	37	17	38324110	38324110	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:38324110C>T	ENST00000264645.7	+	10	1885	c.1659C>T	c.(1657-1659)ttC>ttT	p.F553F		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	553	Necessary for localization in cytoplasmic stress granules.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CAGTGCAGTTCCAGGGACCAA	0.502																																																	0													188.0	168.0	175.0					17																	38324110		2203	4300	6503	SO:0001819	synonymous_variant	22794			X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.1659C>T	17.37:g.38324110C>T			A8K8R0	Silent	SNP	pfam_Btz_dom	p.F553	ENST00000264645.7	37	c.1659	CCDS11362.1	17																																																																																			CASC3	-	NULL		0.502	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASC3	HGNC	protein_coding	OTTHUMT00000257127.3	C	NM_007359		38324110	+1	no_errors	ENST00000264645	ensembl	human	known	70_37	silent	SNP	1.000	T
CBR3	874	genome.wustl.edu	37	21	37507541	37507541	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr21:37507541C>G	ENST00000290354.5	+	1	332	c.51C>G	c.(49-51)atC>atG	p.I17M	CBR3-AS1_ENST00000608690.1_RNA|CBR3-AS1_ENST00000608632.1_RNA|CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000608622.1_RNA|CBR3-AS1_ENST00000608641.1_RNA|CBR3-AS1_ENST00000453159.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	17					cognition (GO:0050890)|phylloquinone catabolic process (GO:0042376)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	3-keto sterol reductase activity (GO:0000253)|carbonyl reductase (NADPH) activity (GO:0004090)|NADPH binding (GO:0070402)			kidney(1)|large_intestine(1)|lung(1)	3					Doxorubicin(DB00997)	ACAGGGGCATCGGCTTGGCCA	0.741																																																	0													10.0	9.0	9.0					21																	37507541		2078	4060	6138	SO:0001583	missense	874			AB004854	CCDS13642.1	21q22.2	2011-09-14			ENSG00000159231	ENSG00000159231	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	1549	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 21C, member 2"""	603608				9740676, 19027726	Standard	NM_001236		Approved	SDR21C2	uc002yve.3	O75828	OTTHUMG00000086617	ENST00000290354.5:c.51C>G	21.37:g.37507541C>G	ENSP00000290354:p.Ile17Met		Q6FHP2	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.I17M	ENST00000290354.5	37	c.51	CCDS13642.1	21	.	.	.	.	.	.	.	.	.	.	C	19.50	3.840246	0.71488	.	.	ENSG00000159231	ENST00000290354	D	0.91180	-2.8	5.32	3.5	0.40072	NAD(P)-binding domain (1);	0.052155	0.85682	D	0.000000	D	0.93232	0.7844	M	0.74389	2.26	0.80722	D	1	D	0.56746	0.977	D	0.70227	0.968	D	0.91712	0.5382	10	0.87932	D	0	-13.0006	5.314	0.15845	0.1622:0.6383:0.0:0.1994	.	17	O75828	CBR3_HUMAN	M	17	ENSP00000290354:I17M	ENSP00000290354:I17M	I	+	3	3	CBR3	36429411	0.614000	0.27017	1.000000	0.80357	0.962000	0.63368	-0.210000	0.09345	0.803000	0.34113	0.655000	0.94253	ATC	CBR3	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH		0.741	CBR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBR3	HGNC	protein_coding	OTTHUMT00000194632.1	C			37507541	+1	no_errors	ENST00000290354	ensembl	human	known	70_37	missense	SNP	1.000	G
CCDC106	29903	genome.wustl.edu	37	19	56160930	56160930	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:56160930C>T	ENST00000586790.1	+	3	1197	c.293C>T	c.(292-294)tCt>tTt	p.S98F	CCDC106_ENST00000591241.1_Missense_Mutation_p.S63F|CCDC106_ENST00000588740.1_Missense_Mutation_p.S98F|CCDC106_ENST00000591578.1_Missense_Mutation_p.S98F|CCDC106_ENST00000308964.3_Missense_Mutation_p.S98F			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	98						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AAATTCATCTCTTCTGCTCGG	0.602																																																	0													63.0	60.0	61.0					19																	56160930		2203	4300	6503	SO:0001583	missense	29903			AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581			30181	protein-coding gene	gene with protein product		613478				8619474, 9110174	Standard	XM_005258827		Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.293C>T	19.37:g.56160930C>T	ENSP00000465757:p.Ser98Phe		B3KUF9|D3K183|Q99786	Missense_Mutation	SNP	NULL	p.S98F	ENST00000586790.1	37	c.293	CCDS33118.1	19	.	.	.	.	.	.	.	.	.	.	C	10.00	1.233354	0.22626	.	.	ENSG00000173581	ENST00000308964	.	.	.	3.37	3.37	0.38596	.	0.063516	0.64402	D	0.000004	T	0.30759	0.0775	N	0.05078	-0.115	0.40651	D	0.98203	B	0.27229	0.172	B	0.24394	0.053	T	0.22103	-1.0226	9	0.37606	T	0.19	-33.111	14.0108	0.64495	0.0:1.0:0.0:0.0	.	98	Q9BWC9	CC106_HUMAN	F	98	.	ENSP00000309681:S98F	S	+	2	0	CCDC106	60852742	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	4.375000	0.59549	1.910000	0.55303	0.462000	0.41574	TCT	CCDC106	-	NULL		0.602	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CCDC106	HGNC	protein_coding	OTTHUMT00000453593.1	C	NM_013301		56160930	+1	no_errors	ENST00000308964	ensembl	human	known	70_37	missense	SNP	1.000	T
CCDC129	223075	genome.wustl.edu	37	7	31683552	31683552	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:31683552G>A	ENST00000407970.3	+	11	2606	c.2568G>A	c.(2566-2568)gtG>gtA	p.V856V	CCDC129_ENST00000319386.3_Silent_p.V708V|CCDC129_ENST00000451887.2_Silent_p.V882V|CCDC129_ENST00000409210.1_Silent_p.V764V	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	856										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACACTACAGTGAGGGAGCTAT	0.502																																																	0													63.0	60.0	61.0					7																	31683552		2203	4300	6503	SO:0001819	synonymous_variant	223075			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2568G>A	7.37:g.31683552G>A			A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	NULL	p.V882	ENST00000407970.3	37	c.2646	CCDS5435.2	7																																																																																			CCDC129	-	NULL		0.502	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC129	HGNC	protein_coding	OTTHUMT00000318975.1	G	NM_194300		31683552	+1	no_errors	ENST00000451887	ensembl	human	known	70_37	silent	SNP	0.996	A
CCDC59	29080	genome.wustl.edu	37	12	82752008	82752008	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:82752008G>A	ENST00000256151.7	-	1	559	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C	METTL25_ENST00000248306.3_5'Flank|CCDC59_ENST00000548126.1_Intron	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	50					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						ATACCCTCGCGAACGCTCCCC	0.507																																																	0													67.0	62.0	63.0					12																	82752008		2203	4300	6503	SO:0001583	missense	29080			AF213377	CCDS9023.1	12q21.31	2007-10-17				ENSG00000133773			25005	protein-coding gene	gene with protein product						16630564, 12882447	Standard	NM_014167		Approved	HSPC128, TAP26, BR22	uc001szp.4	Q9P031		ENST00000256151.7:c.148C>T	12.37:g.82752008G>A	ENSP00000256151:p.Arg50Cys		Q9H2V5|Q9NW62	Missense_Mutation	SNP	pfam_rRNA_processing,prints_BR22	p.R50C	ENST00000256151.7	37	c.148	CCDS9023.1	12	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127907	0.77549	.	.	ENSG00000133773	ENST00000552377;ENST00000256151	.	.	.	4.97	4.97	0.65823	.	0.167166	0.52532	D	0.000070	T	0.64046	0.2563	L	0.39898	1.24	0.46376	D	0.999017	D	0.76494	0.999	P	0.57846	0.828	T	0.68036	-0.5515	9	0.87932	D	0	-25.2561	15.1627	0.72798	0.0:0.0:1.0:0.0	.	50	Q9P031	TAP26_HUMAN	C	50	.	ENSP00000256151:R50C	R	-	1	0	CCDC59	81276139	0.999000	0.42202	0.978000	0.43139	0.670000	0.39368	5.257000	0.65473	2.306000	0.77630	0.585000	0.79938	CGC	CCDC59	-	prints_BR22		0.507	CCDC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC59	HGNC	protein_coding	OTTHUMT00000408186.1	G	NM_014167		82752008	-1	no_errors	ENST00000256151	ensembl	human	known	70_37	missense	SNP	0.999	A
CCDC38	120935	genome.wustl.edu	37	12	96292426	96292426	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:96292426C>G	ENST00000344280.3	-	6	1010	c.453G>C	c.(451-453)gaG>gaC	p.E151D	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	151										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGAGCTTTTTCTCTGCTTTTT	0.403																																																	0													187.0	174.0	178.0					12																	96292426		2203	4300	6503	SO:0001583	missense	120935			AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.453G>C	12.37:g.96292426C>G	ENSP00000345470:p.Glu151Asp		Q8N835	Missense_Mutation	SNP	NULL	p.E151D	ENST00000344280.3	37	c.453	CCDS9056.1	12	.	.	.	.	.	.	.	.	.	.	C	13.33	2.203682	0.38905	.	.	ENSG00000165972	ENST00000344280	T	0.19394	2.15	5.66	1.57	0.23409	.	0.000000	0.85682	D	0.000000	T	0.46073	0.1374	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.30031	-0.9992	10	0.48119	T	0.1	-33.4068	7.3457	0.26662	0.0:0.3362:0.0:0.6638	.	151	Q502W7	CCD38_HUMAN	D	151	ENSP00000345470:E151D	ENSP00000345470:E151D	E	-	3	2	CCDC38	94816557	0.994000	0.37717	0.750000	0.31169	0.004000	0.04260	0.533000	0.23082	0.019000	0.15079	-0.339000	0.08088	GAG	CCDC38	-	NULL		0.403	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC38	HGNC	protein_coding	OTTHUMT00000408634.1	C	NM_182496		96292426	-1	no_errors	ENST00000344280	ensembl	human	known	70_37	missense	SNP	0.985	G
CCR8	1237	genome.wustl.edu	37	3	39374093	39374093	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:39374093C>A	ENST00000326306.4	+	2	409	c.271C>A	c.(271-273)Cag>Aag	p.Q91K	CCR8_ENST00000545843.1_Intron|CCR8_ENST00000414803.1_Intron	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	91					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		CTTCCCCTTTCAGACCTACTA	0.478																																																	0													245.0	220.0	229.0					3																	39374093		2203	4300	6503	SO:0001583	missense	1237			D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.271C>A	3.37:g.39374093C>A	ENSP00000326432:p.Gln91Lys		B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR8,prints_Chemokine_CXCR4,prints_Brdyknn_rcpt	p.Q91K	ENST00000326306.4	37	c.271	CCDS2684.1	3	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479929	0.44044	.	.	ENSG00000179934	ENST00000326306	T	0.71461	-0.57	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.363429	0.25478	N	0.030393	T	0.62011	0.2393	L	0.42529	1.33	0.80722	D	1	P	0.38300	0.626	B	0.40602	0.334	T	0.65894	-0.6057	10	0.87932	D	0	.	6.1213	0.20154	0.1877:0.7192:0.0:0.0931	.	91	P51685	CCR8_HUMAN	K	91	ENSP00000326432:Q91K	ENSP00000326432:Q91K	Q	+	1	0	CCR8	39349097	0.000000	0.05858	1.000000	0.80357	0.983000	0.72400	0.143000	0.16115	2.506000	0.84524	0.563000	0.77884	CAG	CCR8	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt		0.478	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR8	HGNC	protein_coding	OTTHUMT00000254058.2	C	NM_005201		39374093	+1	no_errors	ENST00000326306	ensembl	human	known	70_37	missense	SNP	0.958	A
CD300C	10871	genome.wustl.edu	37	17	72541887	72541887	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:72541887G>A	ENST00000330793.1	-	1	395	c.35C>T	c.(34-36)tCa>tTa	p.S12L		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	12					cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						GAGCAGAGCTGAAGACCGCCA	0.622																																					Esophageal Squamous(66;421 1121 20537 25337 27468)												0													55.0	43.0	47.0					17																	72541887		2200	4299	6499	SO:0001583	missense	10871			BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19320	protein-coding gene	gene with protein product		606786	"""CD300c antigen"""			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.35C>T	17.37:g.72541887G>A	ENSP00000329507:p.Ser12Leu			Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.S12L	ENST00000330793.1	37	c.35	CCDS11701.1	17	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214054	0.39102	.	.	ENSG00000167850	ENST00000330793	T	0.03831	3.79	3.54	2.55	0.30701	.	1.473130	0.04826	N	0.437820	T	0.04182	0.0116	N	0.20483	0.58	0.09310	N	1	B	0.18741	0.03	B	0.14023	0.01	T	0.40757	-0.9546	10	0.24483	T	0.36	.	7.3583	0.26731	0.1214:0.0:0.8786:0.0	.	12	Q08708	CLM6_HUMAN	L	12	ENSP00000329507:S12L	ENSP00000329507:S12L	S	-	2	0	CD300C	70053482	0.045000	0.20229	0.004000	0.12327	0.195000	0.23768	0.662000	0.25038	1.067000	0.40740	0.650000	0.86243	TCA	CD300C	-	NULL		0.622	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300C	HGNC	protein_coding	OTTHUMT00000145084.1	G	NM_006678		72541887	-1	no_errors	ENST00000330793	ensembl	human	known	70_37	missense	SNP	0.004	A
CDH24	64403	genome.wustl.edu	37	14	23523479	23523479	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:23523479G>A	ENST00000267383.5	-	5	935	c.843C>T	c.(841-843)ctC>ctT	p.L281L	CDH24_ENST00000554034.1_Silent_p.L281L|CDH24_ENST00000487137.2_Silent_p.L281L|CDH24_ENST00000397359.3_Silent_p.L281L			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	281	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCTGGGCCCGGAGCCGGCCCA	0.632																																																	0													79.0	84.0	82.0					14																	23523479		2203	4300	6503	SO:0001819	synonymous_variant	64403			AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.843C>T	14.37:g.23523479G>A			D3DS44|Q86UP1|Q9NT84	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L281	ENST00000267383.5	37	c.843	CCDS9585.1	14																																																																																			CDH24	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.632	CDH24-006	KNOWN	basic|CCDS	protein_coding	CDH24	HGNC	protein_coding	OTTHUMT00000257241.2	G	NM_022478		23523479	-1	no_errors	ENST00000267383	ensembl	human	known	70_37	silent	SNP	0.077	A
CDK14	5218	genome.wustl.edu	37	7	90747472	90747472	+	Missense_Mutation	SNP	A	A	G	rs35643773		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:90747472A>G	ENST00000380050.3	+	14	1518	c.1387A>G	c.(1387-1389)Agt>Ggt	p.S463G	CDK14_ENST00000436577.2_Missense_Mutation_p.S334G|CDK14_ENST00000406263.1_Missense_Mutation_p.S417G|CDK14_ENST00000265741.3_Missense_Mutation_p.S445G			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	463			S -> R. {ECO:0000269|PubMed:17344846}.		cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TTATGGCAAAAGTCTATCAAA	0.418																																					GBM(83;1228 1256 8311 16577 31299)												0													78.0	76.0	77.0					7																	90747472		2203	4300	6503	SO:0001583	missense	5218				CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.1387A>G	7.37:g.90747472A>G	ENSP00000369390:p.Ser463Gly		A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S463G	ENST00000380050.3	37	c.1387		7	.	.	.	.	.	.	.	.	.	.	A	14.64	2.596947	0.46318	.	.	ENSG00000058091	ENST00000380050;ENST00000265741;ENST00000406263;ENST00000436577	T;T;T;T	0.71698	-0.49;-0.49;-0.47;-0.59	5.87	5.87	0.94306	.	0.285709	0.40144	N	0.001165	T	0.55130	0.1901	N	0.22421	0.69	0.34507	D	0.706635	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.61068	-0.7137	10	0.45353	T	0.12	-10.6716	9.0746	0.36513	0.8931:0.0:0.1069:0.0	.	334;445;463	E7EUK8;O94921-2;O94921	.;.;CDK14_HUMAN	G	463;445;417;334	ENSP00000369390:S463G;ENSP00000265741:S445G;ENSP00000385034:S417G;ENSP00000398936:S334G	ENSP00000265741:S445G	S	+	1	0	CDK14	90585408	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.659000	0.46741	2.371000	0.80710	0.533000	0.62120	AGT	CDK14	-	NULL		0.418	CDK14-001	KNOWN	basic|appris_principal	protein_coding	CDK14	HGNC	protein_coding	OTTHUMT00000059970.5	A	NM_012395		90747472	+1	no_errors	ENST00000380050	ensembl	human	known	70_37	missense	SNP	1.000	G
CDK2AP2	10263	genome.wustl.edu	37	11	67275414	67275414	+	Intron	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:67275414C>G	ENST00000301488.3	-	1	631				CDK2AP2_ENST00000531506.1_Intron|PITPNM1_ENST00000356404.3_5'Flank|PITPNM1_ENST00000436757.2_5'Flank	NM_005851.3	NP_005842.1	O75956	CDKA2_HUMAN	cyclin-dependent kinase 2 associated protein 2											lung(1)	1						ctCAGGCCGTCTTCTCTTCGA	0.662																																																	0													5.0	8.0	7.0					11																	67275414		670	1566	2236	SO:0001627	intron_variant	10263			AF089814	CCDS8169.1	11q13	2010-05-17	2008-11-04		ENSG00000167797	ENSG00000167797			30833	protein-coding gene	gene with protein product	"""tumor suppressor deleted in oral cancer related 1"""		"""CDK2-associated protein 2"""			10082655	Standard	NM_005851		Approved	DOC-1R, p14	uc001oma.4	O75956		ENST00000301488.3:c.82+57G>C	11.37:g.67275414C>G				Missense_Mutation	SNP	NULL	p.R47T	ENST00000301488.3	37	c.140	CCDS8169.1	11																																																																																			CDK2AP2	-	NULL		0.662	CDK2AP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK2AP2	HGNC	protein_coding	OTTHUMT00000395535.1	C	NM_005851		67275414	-1	no_errors	ENST00000531178	ensembl	human	known	70_37	missense	SNP	1.000	G
CDK5RAP2	55755	genome.wustl.edu	37	9	123202153	123202153	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:123202153C>T	ENST00000349780.4	-	24	3425	c.3246G>A	c.(3244-3246)ctG>ctA	p.L1082L	CDK5RAP2_ENST00000359309.3_Silent_p.L1041L|CDK5RAP2_ENST00000360822.3_Silent_p.L1050L|CDK5RAP2_ENST00000360190.4_Silent_p.L1082L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1082	Interaction with MAPRE1.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCTTGGAACTCAGGTAAGTAG	0.438																																																	0													81.0	76.0	78.0					9																	123202153		2203	4300	6503	SO:0001819	synonymous_variant	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.3246G>A	9.37:g.123202153C>T			Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	pfam_Spindle_assoc	p.L1082	ENST00000349780.4	37	c.3246	CCDS6823.1	9																																																																																			CDK5RAP2	-	NULL		0.438	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	C	NM_018249		123202153	-1	no_errors	ENST00000349780	ensembl	human	known	70_37	silent	SNP	0.305	T
CEACAM20	125931	genome.wustl.edu	37	19	45029244	45029244	+	RNA	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:45029244G>A	ENST00000454753.1	-	0	364							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GAGCTGGGCTGCAGCTGGAGG	0.582																																																	0													105.0	113.0	110.0					19																	45029244		2098	4216	6314			125931			AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45029244G>A				RNA	SNP	-	NULL	ENST00000454753.1	37	NULL		19																																																																																			CEACAM20	-	-		0.582	CEACAM20-001	KNOWN	basic	processed_transcript	CEACAM20	HGNC	processed_transcript	OTTHUMT00000323032.1	G	NM_198444		45029244	-1	no_errors	ENST00000316962	ensembl	human	known	70_37	rna	SNP	0.131	A
CECR2	27443	genome.wustl.edu	37	22	18022482	18022482	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr22:18022482G>C	ENST00000400585.2	+	16	2599	c.2161G>C	c.(2161-2163)Gag>Cag	p.E721Q	CECR2_ENST00000400573.5_Missense_Mutation_p.E862Q|CECR2_ENST00000262608.8_Missense_Mutation_p.E863Q			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	904					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGACAGCCCAGAGATGATTGC	0.632																																																	0													59.0	67.0	64.0					22																	18022482		2051	4187	6238	SO:0001583	missense	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2161G>C	22.37:g.18022482G>C	ENSP00000383428:p.Glu721Gln		A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.E862Q	ENST00000400585.2	37	c.2584		22	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565075	0.86439	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.45276	0.99;0.98;0.9	5.11	5.11	0.69529	.	0.000000	0.53938	D	0.000049	T	0.65302	0.2678	M	0.69823	2.125	0.53688	D	0.999972	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.80764	0.991;0.994;0.994	T	0.67106	-0.5754	10	0.59425	D	0.04	-28.949	18.7183	0.91684	0.0:0.0:1.0:0.0	.	904;721;862	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	Q	721;862;863	ENSP00000383428:E721Q;ENSP00000383417:E862Q;ENSP00000262608:E863Q	ENSP00000262608:E863Q	E	+	1	0	CECR2	16402482	1.000000	0.71417	0.988000	0.46212	0.989000	0.77384	8.757000	0.91657	2.654000	0.90174	0.561000	0.74099	GAG	CECR2	-	NULL		0.632	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	G	NM_031413		18022482	+1	no_errors	ENST00000400573	ensembl	human	novel	70_37	missense	SNP	1.000	C
CEP112	201134	genome.wustl.edu	37	17	64001810	64001810	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:64001810C>G	ENST00000392769.2	-	17	1952	c.1734G>C	c.(1732-1734)ttG>ttC	p.L578F	CEP112_ENST00000537949.1_Missense_Mutation_p.L536F|CEP112_ENST00000535342.2_Missense_Mutation_p.L578F|CEP112_ENST00000541355.1_Missense_Mutation_p.L213F	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	578					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TTACTCACTTCAAAGCTTCCT	0.318																																																	0													64.0	64.0	64.0					17																	64001810		2202	4297	6499	SO:0001583	missense	201134			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.1734G>C	17.37:g.64001810C>G	ENSP00000376522:p.Leu578Phe		Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	superfamily_t-SNARE	p.L578F	ENST00000392769.2	37	c.1734	CCDS32710.1	17	.	.	.	.	.	.	.	.	.	.	C	14.27	2.486148	0.44147	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000541355;ENST00000537949	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	5.66	2.45	0.29901	.	0.338812	0.26163	N	0.025975	T	0.12433	0.0302	L	0.29908	0.895	0.33250	D	0.558405	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.11329	0.006;0.006;0.006	T	0.08700	-1.0709	10	0.28530	T	0.3	-15.9074	5.4832	0.16735	0.1425:0.6367:0.1389:0.0819	.	536;536;578	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	F	578;578;213;536	ENSP00000442784:L578F;ENSP00000376522:L578F;ENSP00000443711:L213F;ENSP00000440775:L536F	ENSP00000376522:L578F	L	-	3	2	CEP112	61432272	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	0.481000	0.22260	1.522000	0.49001	0.650000	0.86243	TTG	CEP112	-	NULL		0.318	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP112	HGNC	protein_coding	OTTHUMT00000446582.1	C	NM_145036		64001810	-1	no_errors	ENST00000392769	ensembl	human	known	70_37	missense	SNP	1.000	G
CILP2	148113	genome.wustl.edu	37	19	19653318	19653318	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:19653318C>G	ENST00000291495.5	+	5	812	c.727C>G	c.(727-729)Cac>Gac	p.H243D	CILP2_ENST00000588333.2_3'UTR|CILP2_ENST00000586018.1_Missense_Mutation_p.H249D	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	243						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CAGCGATGCTCACGGAACCTT	0.662																																																	0													43.0	40.0	41.0					19																	19653318		2203	4300	6503	SO:0001583	missense	148113			AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.727C>G	19.37:g.19653318C>G	ENSP00000291495:p.His243Asp		Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.H243D	ENST00000291495.5	37	c.727	CCDS12405.1	19	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.553957	0.00918	.	.	ENSG00000160161	ENST00000291495	T	0.36340	1.26	5.23	4.19	0.49359	Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.183017	0.46145	D	0.000318	T	0.28234	0.0697	L	0.44542	1.39	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.18263	0.021;0.021	T	0.19877	-1.0292	10	0.12103	T	0.63	-5.8144	11.5294	0.50599	0.0:0.9114:0.0:0.0886	.	243;243	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	D	243	ENSP00000291495:H243D	ENSP00000291495:H243D	H	+	1	0	CILP2	19514318	0.001000	0.12720	0.056000	0.19401	0.086000	0.17979	0.731000	0.26058	1.204000	0.43247	0.555000	0.69702	CAC	CILP2	-	superfamily_CarboxyPept-like_regulatory		0.662	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CILP2	HGNC	protein_coding	OTTHUMT00000459738.3	C	NM_153221		19653318	+1	no_errors	ENST00000291495	ensembl	human	known	70_37	missense	SNP	0.052	G
CLCC1	23155	genome.wustl.edu	37	1	109492486	109492486	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:109492486C>T	ENST00000369971.2	-	3	316	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	CLCC1_ENST00000369976.1_Missense_Mutation_p.E63K|CLCC1_ENST00000302500.4_Missense_Mutation_p.E63K|CLCC1_ENST00000369968.2_Missense_Mutation_p.E63K|CLCC1_ENST00000369970.3_Missense_Mutation_p.E63K|CLCC1_ENST00000356970.2_Missense_Mutation_p.E63K|CLCC1_ENST00000348264.2_Missense_Mutation_p.E63K|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000415331.1_Missense_Mutation_p.E63K|CLCC1_ENST00000369969.2_Missense_Mutation_p.E63K	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	63						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		TCTGATATTTCATCAGCACAT	0.259																																																	0													61.0	63.0	62.0					1																	109492486		2203	4291	6494	SO:0001583	missense	23155			AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"""Mid1-related chloride channel (yeast)"""					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.187G>A	1.37:g.109492486C>T	ENSP00000358988:p.Glu63Lys		O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	pfam_Chloride_chnl_CLIC-like	p.E63K	ENST00000369971.2	37	c.187	CCDS41362.1	1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134616	0.56828	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369968;ENST00000369976;ENST00000369970;ENST00000348264;ENST00000302500	T;T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.41	5.41	0.78517	.	0.341890	0.34067	N	0.004288	T	0.58366	0.2117	L	0.52266	1.64	0.24783	N	0.992806	D;D;P;D	0.89917	1.0;1.0;0.89;0.994	D;D;P;P	0.87578	0.998;0.998;0.503;0.9	T	0.55566	-0.8121	10	0.87932	D	0	-28.9614	15.0398	0.71781	0.0:1.0:0.0:0.0	.	63;63;63;63	Q96S66-4;Q96S66-3;Q96S66-2;Q96S66	.;.;.;CLCC1_HUMAN	K	63	ENSP00000349456:E63K;ENSP00000358988:E63K;ENSP00000411591:E63K;ENSP00000358986:E63K;ENSP00000358985:E63K;ENSP00000358993:E63K;ENSP00000358987:E63K;ENSP00000337243:E63K;ENSP00000306552:E63K	ENSP00000306552:E63K	E	-	1	0	CLCC1	109294009	0.986000	0.35501	0.198000	0.23420	0.221000	0.24807	3.952000	0.56691	2.683000	0.91414	0.563000	0.77884	GAA	CLCC1	-	pfam_Chloride_chnl_CLIC-like		0.259	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCC1	HGNC	protein_coding	OTTHUMT00000032405.1	C	NM_015127		109492486	-1	no_errors	ENST00000356970	ensembl	human	known	70_37	missense	SNP	0.880	T
CLEC10A	10462	genome.wustl.edu	37	17	6980275	6980275	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:6980275C>T	ENST00000254868.4	-	4	544	c.216G>A	c.(214-216)ctG>ctA	p.L72L	CLEC10A_ENST00000416562.2_Silent_p.L72L|CLEC10A_ENST00000576617.1_Silent_p.L72L|CLEC10A_ENST00000571664.1_Silent_p.L72L	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	72					endocytosis (GO:0006897)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						AATCTGTTCTCAGGGTCACCA	0.557																																																	0													102.0	100.0	100.0					17																	6980275		2203	4300	6503	SO:0001819	synonymous_variant	10462			D50532	CCDS11087.1, CCDS45597.1	17p13.2	2014-05-20	2005-02-09	2005-02-11		ENSG00000132514		"""C-type lectin domain containing"", ""CD molecules"""	16916	protein-coding gene	gene with protein product	"""macrophage lectin 2 (calcium dependent)"""	605999	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 14 (macrophage-derived)"""	CLECSF13, CLECSF14		8598452	Standard	XM_005256411		Approved	HML2, HML, CD301	uc002gej.3	Q8IUN9		ENST00000254868.4:c.216G>A	17.37:g.6980275C>T			A8K8J8|Q14538|Q6PIW3	Silent	SNP	pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.L72	ENST00000254868.4	37	c.216	CCDS11087.1	17																																																																																			CLEC10A	-	pfam_Lectin_N		0.557	CLEC10A-001	KNOWN	basic|CCDS	protein_coding	CLEC10A	HGNC	protein_coding	OTTHUMT00000439837.2	C	NM_006344		6980275	-1	no_errors	ENST00000254868	ensembl	human	known	70_37	silent	SNP	0.381	T
CLEC14A	161198	genome.wustl.edu	37	14	38723950	38723950	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:38723950G>A	ENST00000342213.2	-	1	1624	c.1278C>T	c.(1276-1278)caC>caT	p.H426H		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	426						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AGGGGCTTTCGTGAAAGCAGA	0.557																																																	0													44.0	45.0	45.0					14																	38723950		2203	4300	6503	SO:0001819	synonymous_variant	161198				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.1278C>T	14.37:g.38723950G>A			Q695G9|Q6PWT6|Q8N5V5	Silent	SNP	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.H426	ENST00000342213.2	37	c.1278	CCDS9667.1	14																																																																																			CLEC14A	-	NULL		0.557	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC14A	HGNC	protein_coding	OTTHUMT00000276729.1	G	NM_175060		38723950	-1	no_errors	ENST00000342213	ensembl	human	known	70_37	silent	SNP	1.000	A
CLMN	79789	genome.wustl.edu	37	14	95669981	95669981	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:95669981C>T	ENST00000298912.4	-	9	1818	c.1705G>A	c.(1705-1707)Gac>Aac	p.D569N		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	569					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TCTATTAGGTCGCTGTTAAAT	0.428																																																	0													81.0	81.0	81.0					14																	95669981		2203	4300	6503	SO:0001583	missense	79789			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.1705G>A	14.37:g.95669981C>T	ENSP00000298912:p.Asp569Asn		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.D569N	ENST00000298912.4	37	c.1705	CCDS9933.1	14	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160316	0.38119	.	.	ENSG00000165959	ENST00000298912	D	0.93659	-3.26	5.76	0.592	0.17471	.	0.000000	0.43919	D	0.000501	D	0.87993	0.6318	M	0.64997	1.995	0.09310	N	0.999998	B	0.31274	0.317	B	0.18561	0.022	T	0.79359	-0.1836	10	0.49607	T	0.09	.	5.575	0.17218	0.0:0.5801:0.1386:0.2813	.	569	Q96JQ2	CLMN_HUMAN	N	569	ENSP00000298912:D569N	ENSP00000298912:D569N	D	-	1	0	CLMN	94739734	0.789000	0.28775	0.263000	0.24496	0.046000	0.14306	0.565000	0.23578	0.356000	0.24157	0.655000	0.94253	GAC	CLMN	-	NULL		0.428	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLMN	HGNC	protein_coding	OTTHUMT00000414518.2	C			95669981	-1	no_errors	ENST00000298912	ensembl	human	known	70_37	missense	SNP	0.012	T
CLTCL1	8218	genome.wustl.edu	37	22	19168280	19168280	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr22:19168280C>T	ENST00000263200.10	-	31	4939	c.4867G>A	c.(4867-4869)Gag>Aag	p.E1623K	SLC25A1_ENST00000451283.1_5'Flank|CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1566K|SLC25A1_ENST00000461267.1_5'Flank|SLC25A1_ENST00000215882.5_5'Flank|CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1623K	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1623	Heavy chain arm.|Proximal segment.|Trimerization. {ECO:0000250}.			RKQEEHVTEPAPLVFDFDGHE -> PPSKRSM (in Ref. 3; AAB40908/AAB40909). {ECO:0000305}.	anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACATGCTCCTCTTGCTTGCGC	0.607			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	0													86.0	93.0	91.0					22																	19168280		2132	4251	6383	SO:0001583	missense	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4867G>A	22.37:g.19168280C>T	ENSP00000445677:p.Glu1623Lys		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.E1623K	ENST00000263200.10	37	c.4867	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	C	8.273	0.813899	0.16537	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.31769	1.48;1.48;1.48	4.69	1.49	0.22878	.	0.224775	0.36002	N	0.002851	T	0.22399	0.0540	L	0.39692	1.235	0.44439	D	0.997369	B;B;B	0.19331	0.009;0.003;0.035	B;B;B	0.30943	0.037;0.003;0.122	T	0.06110	-1.0845	10	0.09084	T	0.74	-2.4268	9.4872	0.38937	0.0:0.7665:0.0:0.2335	.	1566;352;1623	P53675-2;B7Z1Z7;P53675	.;.;CLH2_HUMAN	K	1566;1623;1623	ENSP00000439662:E1566K;ENSP00000445677:E1623K;ENSP00000441158:E1623K	ENSP00000445677:E1623K	E	-	1	0	CLTCL1	17548280	0.996000	0.38824	0.000000	0.03702	0.001000	0.01503	3.653000	0.54446	0.232000	0.21100	-0.140000	0.14226	GAG	CLTCL1	-	pirsf_Clathrin_heavy_chain		0.607	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5	C	NM_007098		19168280	-1	no_errors	ENST00000263200	ensembl	human	known	70_37	missense	SNP	0.914	T
CLVS2	134829	genome.wustl.edu	37	6	123377007	123377007	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:123377007C>T	ENST00000275162.5	+	5	2067	c.732C>T	c.(730-732)atC>atT	p.I244I	CLVS2_ENST00000368438.1_Silent_p.I98I	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	244	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ATCCTGAGATCCTGCCCTCTG	0.453																																																	0													188.0	159.0	168.0					6																	123377007		2203	4300	6503	SO:0001819	synonymous_variant	134829			AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.732C>T	6.37:g.123377007C>T			B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Silent	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.I244	ENST00000275162.5	37	c.732	CCDS34525.1	6																																																																																			CLVS2	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran		0.453	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLVS2	HGNC	protein_coding	OTTHUMT00000042042.2	C	NM_001010852		123377007	+1	no_errors	ENST00000275162	ensembl	human	known	70_37	silent	SNP	0.948	T
COL18A1	80781	genome.wustl.edu	37	21	46897681	46897681	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr21:46897681G>A	ENST00000359759.4	+	7	2289	c.2268G>A	c.(2266-2268)caG>caA	p.Q756Q	COL18A1_ENST00000400337.2_Silent_p.Q341Q|COL18A1_ENST00000355480.5_Silent_p.Q521Q			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	756	Triple-helical region 1 (COL1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGAAGGGGCAGAAAGGGGAGC	0.711																																																	0													6.0	7.0	7.0					21																	46897681		1726	3825	5551	SO:0001819	synonymous_variant	80781				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.2268G>A	21.37:g.46897681G>A			A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.Q756	ENST00000359759.4	37	c.2268		21																																																																																			COL18A1	-	NULL		0.711	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	G			46897681	+1	no_errors	ENST00000359759	ensembl	human	known	70_37	silent	SNP	0.936	A
COL2A1	1280	genome.wustl.edu	37	12	48380662	48380662	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:48380662C>T	ENST00000380518.3	-	22	1539	c.1375G>A	c.(1375-1377)Ggt>Agt	p.G459S	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G390S	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	459	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCAGCAATACCAGGTTCACCC	0.567																																																	0													151.0	153.0	152.0					12																	48380662		2203	4300	6503	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1375G>A	12.37:g.48380662C>T	ENSP00000369889:p.Gly459Ser		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.G459S	ENST00000380518.3	37	c.1375	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940543	0.92526	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.99607	-6.27;-6.27	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.97983	4.12	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.995;0.997	D	0.96689	0.9509	10	0.87932	D	0	.	15.9765	0.80071	0.0:1.0:0.0:0.0	.	390;459	P02458-1;P02458	.;CO2A1_HUMAN	S	459;390;390	ENSP00000369889:G459S;ENSP00000338213:G390S	ENSP00000338213:G390S	G	-	1	0	COL2A1	46666929	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.654000	0.67974	2.384000	0.81235	0.462000	0.41574	GGT	COL2A1	-	NULL		0.567	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	C	NM_001844		48380662	-1	no_errors	ENST00000380518	ensembl	human	known	70_37	missense	SNP	1.000	T
COL4A6	1288	genome.wustl.edu	37	X	107412840	107412840	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:107412840G>A	ENST00000372216.4	-	37	3679	c.3579C>T	c.(3577-3579)atC>atT	p.I1193I	COL4A6_ENST00000394872.2_Silent_p.I1193I|COL4A6_ENST00000334504.7_Silent_p.I1192I|COL4A6_ENST00000538570.1_Silent_p.I1168I|COL4A6_ENST00000545689.1_Silent_p.I1168I	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1193	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GCACACCGGTGATACTAGGTC	0.612									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)												0													29.0	24.0	26.0					X																	107412840		2203	4300	6503	SO:0001819	synonymous_variant	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3579C>T	X.37:g.107412840G>A			Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.I1193	ENST00000372216.4	37	c.3579	CCDS14541.1	X																																																																																			COL4A6	-	NULL		0.612	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	G			107412840	-1	no_errors	ENST00000372216	ensembl	human	known	70_37	silent	SNP	0.073	A
COL7A1	1294	genome.wustl.edu	37	3	48623864	48623864	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:48623864G>T	ENST00000328333.8	-	26	3558	c.3451C>A	c.(3451-3453)Cct>Act	p.P1151T	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1151T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1151	Nonhelical region (NC1).|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGGCGCCCAGGAGCATCTGGT	0.592																																																	0													144.0	148.0	146.0					3																	48623864		2203	4300	6503	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.3451C>A	3.37:g.48623864G>T	ENSP00000332371:p.Pro1151Thr		Q14054|Q16507	Missense_Mutation	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.P1151T	ENST00000328333.8	37	c.3451	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	G	9.038	0.988957	0.18966	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.77620	-1.11;-1.11	4.88	3.95	0.45737	von Willebrand factor, type A (2);	0.155671	0.29932	N	0.010829	T	0.65344	0.2682	N	0.24115	0.695	0.19575	N	0.999966	P	0.47841	0.901	B	0.44224	0.444	T	0.57906	-0.7730	10	0.29301	T	0.29	.	10.9897	0.47543	0.0:0.0:0.8143:0.1857	.	1151	Q02388	CO7A1_HUMAN	T	1151	ENSP00000332371:P1151T;ENSP00000412569:P1151T	ENSP00000332371:P1151T	P	-	1	0	COL7A1	48598868	0.966000	0.33281	0.984000	0.44739	0.959000	0.62525	2.301000	0.43628	2.415000	0.81967	0.561000	0.74099	CCT	COL7A1	-	pfam_VWF_A,pfscan_VWF_A		0.592	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	G	NM_000094		48623864	-1	no_errors	ENST00000328333	ensembl	human	known	70_37	missense	SNP	0.346	T
COL9A3	1299	genome.wustl.edu	37	20	61467602	61467602	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr20:61467602C>T	ENST00000343916.3	+	28	1468	c.1465C>T	c.(1465-1467)Cag>Tag	p.Q489*	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	489	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CAGCGGTGTTCAGGGTGTCCC	0.697																																																	0													26.0	34.0	31.0					20																	61467602		2203	4299	6502	SO:0001587	stop_gained	1299			AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1465C>T	20.37:g.61467602C>T	ENSP00000341640:p.Gln489*		Q13681|Q9H4G9|Q9UPE2	Nonsense_Mutation	SNP	pfam_Collagen	p.Q489*	ENST00000343916.3	37	c.1465	CCDS13505.1	20	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508177	0.44660	.	.	ENSG00000092758	ENST00000343916	.	.	.	4.63	2.66	0.31614	.	0.443877	0.23995	N	0.042525	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	14.0886	0.64975	0.0:0.6394:0.3606:0.0	.	.	.	.	X	489	.	ENSP00000341640:Q489X	Q	+	1	0	COL9A3	60938047	0.091000	0.21658	0.041000	0.18516	0.047000	0.14425	1.159000	0.31749	0.380000	0.24823	-0.264000	0.10439	CAG	COL9A3	-	pfam_Collagen		0.697	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A3	HGNC	protein_coding	OTTHUMT00000080071.2	C	NM_001853		61467602	+1	no_errors	ENST00000343916	ensembl	human	known	70_37	nonsense	SNP	0.409	T
COPS5	10987	genome.wustl.edu	37	8	67974138	67974138	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:67974138C>T	ENST00000357849.4	-	1	414	c.94G>A	c.(94-96)Gac>Aac	p.D32N	CSPP1_ENST00000262210.5_5'Flank|CSPP1_ENST00000412460.1_5'Flank|COPS5_ENST00000519963.1_5'UTR|AC109335.1_ENST00000578628.1_RNA|COPS5_ENST00000517736.1_Intron	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	32					cullin deneddylation (GO:0010388)|exosomal secretion (GO:1990182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein deneddylation (GO:0000338)|protein deubiquitination (GO:0016579)|regulation of cell cycle (GO:0051726)|regulation of JNK cascade (GO:0046328)|transcription from RNA polymerase II promoter (GO:0006366)|translation (GO:0006412)|translational initiation (GO:0006413)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 3 complex (GO:0005852)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|transcription coactivator activity (GO:0003713)|translation initiation factor activity (GO:0003743)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGTTTCTTGTCGTATTTGTAG	0.572																																																	0													164.0	149.0	154.0					8																	67974138		2203	4300	6503	SO:0001583	missense	10987			U65928	CCDS6198.1	8q13.1	2013-03-14	2013-03-14		ENSG00000121022	ENSG00000121022			2240	protein-coding gene	gene with protein product		604850	"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 5"", ""COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis)"""			8837781, 9341143	Standard	NM_006837		Approved	JAB1, SGN5, MOV-34, CSN5	uc003xxe.3	Q92905	OTTHUMG00000164563	ENST00000357849.4:c.94G>A	8.37:g.67974138C>T	ENSP00000350512:p.Asp32Asn		O15386|Q6AW95|Q86WQ4|Q9BQ17	Missense_Mutation	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.D32N	ENST00000357849.4	37	c.94	CCDS6198.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.806641	0.96967	.	.	ENSG00000121022	ENST00000357849	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.67711	0.2922	M	0.62016	1.91	0.80722	D	1	B	0.23249	0.082	B	0.24848	0.056	T	0.63422	-0.6641	9	0.45353	T	0.12	-1.9206	19.1345	0.93420	0.0:1.0:0.0:0.0	.	32	Q92905	CSN5_HUMAN	N	32	.	ENSP00000350512:D32N	D	-	1	0	COPS5	68136692	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.566000	0.67372	2.838000	0.97847	0.655000	0.94253	GAC	COPS5	-	NULL		0.572	COPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS5	HGNC	protein_coding	OTTHUMT00000379245.2	C			67974138	-1	no_errors	ENST00000357849	ensembl	human	known	70_37	missense	SNP	1.000	T
COPS6	10980	genome.wustl.edu	37	7	99689397	99689397	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:99689397C>T	ENST00000303904.3	+	10	1006	c.969C>T	c.(967-969)cgC>cgT	p.R323R	MIR106B_ENST00000385301.1_RNA|MIR93_ENST00000385024.1_RNA|COPS6_ENST00000418625.1_Silent_p.R322R|MIR25_ENST00000384816.1_RNA	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	323	Interaction with Vpr.				cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GGAGAATGCGCGGGCTCTTTT	0.532											OREG0018195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													89.0	83.0	85.0					7																	99689397		2203	4300	6503	SO:0001819	synonymous_variant	10980			BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"""COP9 subunit 6 (MOV34 homolog, 34 kD)"""	614729	"""COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"""			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.969C>T	7.37:g.99689397C>T		1345	A4D2A3|O15387	Silent	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.R323	ENST00000303904.3	37	c.969	CCDS5682.1	7																																																																																			COPS6	-	NULL		0.532	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COPS6	HGNC	protein_coding	OTTHUMT00000336412.3	C	NM_006833		99689397	+1	no_errors	ENST00000303904	ensembl	human	known	70_37	silent	SNP	1.000	T
CPB2	1361	genome.wustl.edu	37	13	46627829	46627829	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr13:46627829C>T	ENST00000181383.4	-	11	1208	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	CPB2-AS1_ENST00000415033.2_RNA|ZC3H13_ENST00000282007.3_5'Flank|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|ZC3H13_ENST00000242848.4_5'Flank|CPB2_ENST00000439329.3_Intron|CPB2-AS1_ENST00000606243.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	398					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		ATGTAACGCTCCGGCAGCAAG	0.443																																																	0													114.0	115.0	115.0					13																	46627829		2203	4300	6503	SO:0001583	missense	1361			M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.1192G>A	13.37:g.46627829C>T	ENSP00000181383:p.Glu398Lys		A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.E398K	ENST00000181383.4	37	c.1192	CCDS9401.1	13	.	.	.	.	.	.	.	.	.	.	C	11.36	1.615034	0.28712	.	.	ENSG00000080618	ENST00000181383	T	0.11821	2.74	5.84	2.83	0.33086	Peptidase M14, carboxypeptidase A (2);	0.431318	0.27725	N	0.018102	T	0.12944	0.0314	L	0.58354	1.805	0.30302	N	0.789328	B	0.09022	0.002	B	0.08055	0.003	T	0.08953	-1.0697	10	0.72032	D	0.01	.	5.3243	0.15898	0.1245:0.34:0.45:0.0856	.	398	Q96IY4	CBPB2_HUMAN	K	398	ENSP00000181383:E398K	ENSP00000181383:E398K	E	-	1	0	CPB2	45525830	0.497000	0.26067	0.007000	0.13788	0.158000	0.22134	1.014000	0.29950	0.697000	0.31718	-0.305000	0.09177	GAG	CPB2	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.443	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPB2	HGNC	protein_coding	OTTHUMT00000044803.2	C	NM_001872		46627829	-1	no_errors	ENST00000181383	ensembl	human	known	70_37	missense	SNP	0.024	T
CPEB3	22849	genome.wustl.edu	37	10	93999172	93999172	+	Silent	SNP	G	G	C	rs143190536		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:93999172G>C	ENST00000265997.4	-	2	1108	c.936C>G	c.(934-936)ctC>ctG	p.L312L	CPEB3_ENST00000412050.4_Silent_p.L312L	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	312					3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				ACTTGGAAGTGAGAGGGGCCG	0.572																																																	0													40.0	38.0	39.0					10																	93999172		2203	4300	6503	SO:0001819	synonymous_variant	22849			AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.936C>G	10.37:g.93999172G>C			Q5T389|Q9NQJ7|Q9Y2E9	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L312	ENST00000265997.4	37	c.936	CCDS31246.1	10																																																																																			CPEB3	-	NULL		0.572	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPEB3	HGNC	protein_coding	OTTHUMT00000049387.2	G	NM_014912		93999172	-1	no_errors	ENST00000265997	ensembl	human	known	70_37	silent	SNP	1.000	C
CREB5	9586	genome.wustl.edu	37	7	28848933	28848933	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:28848933C>T	ENST00000357727.2	+	9	1546	c.1156C>T	c.(1156-1158)Cgg>Tgg	p.R386W	CREB5_ENST00000396298.2_Missense_Mutation_p.R247W|CREB5_ENST00000396300.2_Missense_Mutation_p.R379W|CREB5_ENST00000396299.2_Missense_Mutation_p.R353W|CREB5_ENST00000409603.1_Missense_Mutation_p.R353W	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	386	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GGAACGGAACCGGGCAGCTGC	0.587																																																	0													49.0	54.0	53.0					7																	28848933		2203	4300	6503	SO:0001583	missense	9586			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.1156C>T	7.37:g.28848933C>T	ENSP00000350359:p.Arg386Trp		A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.R386W	ENST00000357727.2	37	c.1156	CCDS5417.1	7	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610642	0.87258	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000396298	T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73	5.99	4.16	0.48862	Basic-leucine zipper (bZIP) transcription factor (3);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.89584	0.6757	H	0.97214	3.96	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92816	0.6268	10	0.87932	D	0	-24.4115	15.4492	0.75259	0.2543:0.7457:0.0:0.0	.	247;386	B4DU13;Q02930	.;CREB5_HUMAN	W	353;386;379;353;247	ENSP00000379593:R353W;ENSP00000350359:R386W;ENSP00000379594:R379W;ENSP00000387197:R353W;ENSP00000379592:R247W	ENSP00000350359:R386W	R	+	1	2	CREB5	28815458	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.169000	0.42434	0.834000	0.34852	-0.181000	0.13052	CGG	CREB5	-	pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_bZIP		0.587	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB5	HGNC	protein_coding	OTTHUMT00000214204.4	C	NM_004904		28848933	+1	no_errors	ENST00000357727	ensembl	human	known	70_37	missense	SNP	1.000	T
CREBBP	1387	genome.wustl.edu	37	16	3778628	3778628	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:3778628C>T	ENST00000262367.5	-	31	7229	c.6420G>A	c.(6418-6420)caG>caA	p.Q2140Q	CREBBP_ENST00000382070.3_Silent_p.Q2102Q	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2140					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CATTCAGGTTCTGCAGGCTGG	0.682			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													57.0	62.0	60.0					16																	3778628		2197	4298	6495	SO:0001819	synonymous_variant	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.6420G>A	16.37:g.3778628C>T			D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.Q2140	ENST00000262367.5	37	c.6420	CCDS10509.1	16																																																																																			CREBBP	-	NULL		0.682	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	C	NM_004380		3778628	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	silent	SNP	1.000	T
CRLF2	64109	genome.wustl.edu	37	X	1331584	1331584	+	5'UTR	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:1331584C>G	ENST00000467626.1	-	0	32				CRLF2_ENST00000381567.3_5'Flank|CRLF2_ENST00000381566.1_5'Flank			Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2						immunoglobulin secretion involved in immune response (GO:0002380)|inflammatory response (GO:0006954)|T-helper 2 cell cytokine production (GO:0035745)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				ACAGATCACTCATGACTCATA	0.488			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""																																			Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	64109	cytokine receptor-like factor 2		L	0													142.0	153.0	149.0					X																	1331584		692	1591	2283	SO:0001623	5_prime_UTR_variant	64109			AF142570	CCDS75944.1, CCDS75945.1	Xp22.3 and Yp11.3	2011-10-07			ENSG00000205755	ENSG00000205755		"""Pseudoautosomal regions / PAR1"""	14281	protein-coding gene	gene with protein product		300357, 400023				11237741, 11474172	Standard	NM_022148		Approved	CRL2, TSLPR	uc004cpk.2	Q9HC73	OTTHUMG00000067432	ENST00000467626.1:c.-1003G>C	X.37:g.1331584C>G			Q9H5R3	RNA	SNP	-	NULL	ENST00000467626.1	37	NULL		X																																																																																			CRLF2	-	-		0.488	CRLF2-002	KNOWN	mRNA_end_NF|basic	processed_transcript	CRLF2	HGNC	protein_coding	OTTHUMT00000144414.1	C	NM_022148		1331584	-1	no_errors	ENST00000467626	ensembl	human	known	70_37	rna	SNP	0.000	G
CRYGN	155051	genome.wustl.edu	37	7	151135048	151135048	+	Intron	SNP	G	G	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:151135048G>T	ENST00000337323.2	-	2	397				CRYGN_ENST00000476631.1_5'UTR|CRYGN_ENST00000491928.1_Missense_Mutation_p.P102T|RP4-555L14.4_ENST00000465549.1_RNA	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N											central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCCAGCAGGAAGACTCAGC	0.602																																																	0													34.0	37.0	36.0					7																	151135048		2203	4300	6503	SO:0001627	intron_variant	155051			AF445455	CCDS5926.1	7q36.1	2003-02-25			ENSG00000127377	ENSG00000127377			20458	protein-coding gene	gene with protein product		609603					Standard	NM_144727		Approved		uc003wke.3	Q8WXF5	OTTHUMG00000157353	ENST00000337323.2:c.270+33C>A	7.37:g.151135048G>T			Q496G6	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.P102T	ENST00000337323.2	37	c.304	CCDS5926.1	7																																																																																			CRYGN	-	NULL		0.602	CRYGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYGN	HGNC	protein_coding	OTTHUMT00000348553.1	G			151135048	-1	no_errors	ENST00000491928	ensembl	human	known	70_37	missense	SNP	0.000	T
CSE1L	1434	genome.wustl.edu	37	20	47707558	47707558	+	Splice_Site	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr20:47707558G>A	ENST00000262982.2	+	21	2487	c.2364G>A	c.(2362-2364)aaG>aaA	p.K788K	CSE1L_ENST00000542325.1_Splice_Site_p.K571K|CSE1L_ENST00000469700.1_3'UTR|CSE1L_ENST00000396192.3_Splice_Site_p.K732K	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	788					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			AGTTTATCAAGAGTAAGTAAA	0.308																																																	0													41.0	44.0	43.0					20																	47707558		2203	4296	6499	SO:0001630	splice_region_variant	1434			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.2365+1G>A	20.37:g.47707558G>A			A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Silent	SNP	pfam_CAS_CSE1_C,pfam_Exportin/Importin_Cse1-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.K788	ENST00000262982.2	37	c.2364	CCDS13412.1	20																																																																																			CSE1L	-	pfam_CAS_CSE1_C,superfamily_ARM-type_fold		0.308	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSE1L	HGNC	protein_coding	OTTHUMT00000080345.2	G	NM_001316	Silent	47707558	+1	no_errors	ENST00000262982	ensembl	human	known	70_37	silent	SNP	1.000	A
CSRP2	1466	genome.wustl.edu	37	12	77259933	77259933	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:77259933G>A	ENST00000311083.5	-	2	231	c.108C>T	c.(106-108)ctC>ctT	p.L36L	CSRP2_ENST00000547435.1_Silent_p.L36L|CSRP2_ENST00000552330.1_Silent_p.L36L|CSRP2_ENST00000546966.1_Silent_p.L36L	NM_001321.1	NP_001312.1	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	36	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)	8						ACTTACTGCAGAGAAAGCAGC	0.493																																																	0													94.0	72.0	79.0					12																	77259933		2203	4300	6503	SO:0001819	synonymous_variant	1466			BC000992	CCDS9015.1	12q21.1	2005-10-30				ENSG00000175183			2470	protein-coding gene	gene with protein product		601871				7499425, 9286703	Standard	XM_006719258		Approved	SmLIM, CRP2, LMO5	uc001syl.1	Q16527		ENST00000311083.5:c.108C>T	12.37:g.77259933G>A			Q93030	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.L36	ENST00000311083.5	37	c.108	CCDS9015.1	12																																																																																			CSRP2	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.493	CSRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRP2	HGNC	protein_coding	OTTHUMT00000406572.1	G	NM_001321		77259933	-1	no_errors	ENST00000311083	ensembl	human	known	70_37	silent	SNP	0.981	A
CTAGE4	100128553	genome.wustl.edu	37	7	143882864	143882864	+	Silent	SNP	T	T	C	rs200691220	byFrequency	TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:143882864T>C	ENST00000486333.1	+	1	2306	c.2268T>C	c.(2266-2268)taT>taC	p.Y756Y		NM_198495.2	NP_940897.2	Q8IX94	CTGE4_HUMAN	CTAGE family, member 4	756	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(1)|ovary(2)	3						GAAACATCTATCCACCGAGGG	0.498																																																	0																																										SO:0001819	synonymous_variant	100128553			AF338232	CCDS55176.1	7q35	2009-10-15			ENSG00000225932	ENSG00000225932			24772	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 4"""	608910				12839582, 11149944	Standard	NM_198495		Approved	FLJ43692, cTAGE-4	uc010lpc.3	Q8IX94	OTTHUMG00000157997	ENST00000486333.1:c.2268T>C	7.37:g.143882864T>C			A8K871|O95046	Silent	SNP	superfamily_tRNA-bd_arm	p.Y756	ENST00000486333.1	37	c.2268	CCDS55176.1	7																																																																																			CTAGE4	-	NULL		0.498	CTAGE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTAGE4	HGNC	protein_coding	OTTHUMT00000349970.1	T	NM_198495		143882864	+1	no_errors	ENST00000486333	ensembl	human	known	70_37	silent	SNP	0.231	C
CXorf30	645090	genome.wustl.edu	37	X	36324926	36324926	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:36324926C>G	ENST00000378657.4	+	9	1108	c.460C>G	c.(460-462)Ctc>Gtc	p.L154V		NM_001098843.4	NP_001092313.2	A6PW82	CX030_HUMAN	chromosome X open reading frame 30	154										breast(1)|lung(2)|stomach(1)	4						ATTACCTGTTCTCTTTTATCC	0.398																																																	0													259.0	171.0	198.0					X																	36324926		692	1591	2283	SO:0001583	missense	645090				CCDS55396.1	Xp21.1	2014-08-07			ENSG00000205081	ENSG00000205081			27298	protein-coding gene	gene with protein product							Standard	NM_001098843		Approved		uc011mkc.3	A6PW82	OTTHUMG00000021353	ENST00000378657.4:c.460C>G	X.37:g.36324926C>G	ENSP00000367926:p.Leu154Val			Missense_Mutation	SNP	NULL	p.L154V	ENST00000378657.4	37	c.460	CCDS55396.1	X	.	.	.	.	.	.	.	.	.	.	C	3.055	-0.194540	0.06259	.	.	ENSG00000205081	ENST00000378653;ENST00000378657	T;T	0.21031	2.03;2.03	5.13	-1.06	0.10002	.	.	.	.	.	T	0.07234	0.0183	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38373	-0.9664	9	0.10636	T	0.68	.	2.0741	0.03620	0.1335:0.4882:0.1284:0.2499	.	154	A6PW82	CX030_HUMAN	V	439;154	ENSP00000367922:L439V;ENSP00000367926:L154V	ENSP00000367922:L439V	L	+	1	0	CXorf30	36234847	0.875000	0.30112	0.000000	0.03702	0.009000	0.06853	-0.147000	0.10234	-0.687000	0.05162	-0.226000	0.12346	CTC	CXorf30	-	NULL		0.398	CXorf30-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf30	HGNC	protein_coding		C	NP_001092313		36324926	+1	no_errors	ENST00000378657	ensembl	human	known	70_37	missense	SNP	0.002	G
CYP11B2	1585	genome.wustl.edu	37	8	143994795	143994795	+	Missense_Mutation	SNP	C	C	T	rs376776280		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:143994795C>T	ENST00000323110.2	-	6	1029	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	343					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GCCAGGCTCTCCTGGCGCAGG	0.632									Familial Hyperaldosteronism type I																																								0								C	LYS/GLU	0,4406		0,0,2203	56.0	62.0	60.0		1027	3.7	1.0	8		60	1,8599		0,1,4299	no	missense	CYP11B2	NM_000498.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	343/504	143994795	1,13005	2203	4300	6503	SO:0001583	missense	1585	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1027G>A	8.37:g.143994795C>T	ENSP00000325822:p.Glu343Lys		B0ZBE4|Q16726	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.E343K	ENST00000323110.2	37	c.1027	CCDS6393.1	8	.	.	.	.	.	.	.	.	.	.	.	17.90	3.503100	0.64298	0.0	1.16E-4	ENSG00000179142	ENST00000323110	D	0.86956	-2.19	3.74	3.74	0.42951	.	0.000000	0.51477	D	0.000098	D	0.95472	0.8529	H	0.97707	4.06	0.36864	D	0.888549	D	0.89917	1.0	D	0.78314	0.991	D	0.98321	1.0528	10	0.87932	D	0	.	13.1433	0.59446	0.0:1.0:0.0:0.0	.	343	P19099	C11B2_HUMAN	K	343	ENSP00000325822:E343K	ENSP00000325822:E343K	E	-	1	0	CYP11B2	143991797	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	3.389000	0.52516	1.920000	0.55613	0.456000	0.33151	GAG	CYP11B2	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I		0.632	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B2	HGNC	protein_coding	OTTHUMT00000359904.1	C			143994795	-1	no_errors	ENST00000323110	ensembl	human	known	70_37	missense	SNP	1.000	T
CYP11B2	1585	genome.wustl.edu	37	8	143999174	143999174	+	Missense_Mutation	SNP	G	G	T	rs143027239		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:143999174G>T	ENST00000323110.2	-	1	85	c.83C>A	c.(82-84)gCc>gAc	p.A28D		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	28					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GGCCCGAGCGGCTCTAGTGCC	0.647									Familial Hyperaldosteronism type I																																								0													80.0	79.0	79.0					8																	143999174		2203	4300	6503	SO:0001583	missense	1585	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.83C>A	8.37:g.143999174G>T	ENSP00000325822:p.Ala28Asp		B0ZBE4|Q16726	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.A28D	ENST00000323110.2	37	c.83	CCDS6393.1	8	.	.	.	.	.	.	.	.	.	.	.	16.92	3.255321	0.59321	.	.	ENSG00000179142	ENST00000323110	T	0.75477	-0.94	3.48	3.48	0.39840	.	0.405610	0.17615	U	0.167955	T	0.78886	0.4354	L	0.49126	1.545	0.27563	N	0.950111	D	0.69078	0.997	D	0.63957	0.92	T	0.68569	-0.5374	10	0.36615	T	0.2	.	10.6586	0.45690	0.0:0.0:1.0:0.0	.	28	P19099	C11B2_HUMAN	D	28	ENSP00000325822:A28D	ENSP00000325822:A28D	A	-	2	0	CYP11B2	143996176	0.000000	0.05858	0.029000	0.17559	0.010000	0.07245	0.443000	0.21644	1.950000	0.56595	0.655000	0.94253	GCC	CYP11B2	-	NULL		0.647	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B2	HGNC	protein_coding	OTTHUMT00000359904.1	G			143999174	-1	no_errors	ENST00000323110	ensembl	human	known	70_37	missense	SNP	0.593	T
DAB2	1601	genome.wustl.edu	37	5	39382903	39382903	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:39382903C>G	ENST00000320816.6	-	10	1625	c.1158G>C	c.(1156-1158)caG>caC	p.Q386H	DAB2_ENST00000509337.1_Missense_Mutation_p.Q365H|DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000545653.1_Missense_Mutation_p.Q365H	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	386	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AGAAGCCGTTCTGTTCTCTTT	0.522																																																	0													98.0	103.0	102.0					5																	39382903		2203	4300	6503	SO:0001583	missense	1601			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1158G>C	5.37:g.39382903C>G	ENSP00000313391:p.Gln386His		A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.Q386H	ENST00000320816.6	37	c.1158	CCDS34149.1	5	.	.	.	.	.	.	.	.	.	.	C	11.00	1.510465	0.27036	.	.	ENSG00000153071	ENST00000320816;ENST00000545653;ENST00000509337	T;T;T	0.38560	1.15;1.13;1.13	5.81	3.0	0.34707	.	0.093400	0.47852	N	0.000216	T	0.37183	0.0994	L	0.56769	1.78	0.26580	N	0.973409	B;B	0.09022	0.001;0.002	B;B	0.10450	0.002;0.005	T	0.38067	-0.9678	10	0.66056	D	0.02	-0.0596	8.6026	0.33754	0.0:0.6355:0.2339:0.1306	.	386;365	P98082;P98082-3	DAB2_HUMAN;.	H	386;365;365	ENSP00000313391:Q386H;ENSP00000439919:Q365H;ENSP00000426245:Q365H	ENSP00000313391:Q386H	Q	-	3	2	DAB2	39418660	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.899000	0.28417	0.890000	0.36211	0.609000	0.83330	CAG	DAB2	-	NULL		0.522	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAB2	HGNC	protein_coding	OTTHUMT00000367014.1	C	NM_001343		39382903	-1	no_errors	ENST00000320816	ensembl	human	known	70_37	missense	SNP	1.000	G
DAPK2	23604	genome.wustl.edu	37	15	64215050	64215050	+	Intron	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr15:64215050C>G	ENST00000457488.1	-	9	889				DAPK2_ENST00000558069.1_Missense_Mutation_p.E451Q|DAPK2_ENST00000261891.3_Intron	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2						anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		CTCCCACTCTCCAGCTGGAAG	0.572																																																	0																																										SO:0001627	intron_variant	23604			AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.858+1964G>C	15.37:g.64215050C>G			E9JGM7|O75892|Q24JS1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E451Q	ENST00000457488.1	37	c.1351	CCDS10188.1	15																																																																																			DAPK2	-	NULL		0.572	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK2	HGNC	protein_coding	OTTHUMT00000256479.1	C	NM_014326		64215050	-1	no_errors	ENST00000558069	ensembl	human	putative	70_37	missense	SNP	0.999	G
DDX41	51428	genome.wustl.edu	37	5	176942215	176942215	+	Missense_Mutation	SNP	G	G	T	rs373575560		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:176942215G>T	ENST00000507955.1	-	7	1139	c.616C>A	c.(616-618)Ccc>Acc	p.P206T	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	206					apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			ATCTGAATGGGTGTTGGGTGG	0.547																																																	0													284.0	235.0	252.0					5																	176942215		2203	4300	6503	SO:0001583	missense	51428			AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.616C>A	5.37:g.176942215G>T	ENSP00000422753:p.Pro206Thr		B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.P206T	ENST00000507955.1	37	c.616	CCDS4427.1	5	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968129	0.92855	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.52526	0.66;0.66	5.53	5.53	0.82687	RNA helicase, DEAD-box type, Q motif (1);DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.058996	0.64402	D	0.000002	T	0.69860	0.3158	M	0.72479	2.2	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	T	0.72374	-0.4313	10	0.87932	D	0	-24.7133	19.4714	0.94965	0.0:0.0:1.0:0.0	.	206	Q9UJV9	DDX41_HUMAN	T	224;206	ENSP00000330349:P224T;ENSP00000422753:P206T	ENSP00000330349:P224T	P	-	1	0	DDX41	176874821	1.000000	0.71417	0.959000	0.39883	0.915000	0.54546	9.497000	0.97970	2.596000	0.87737	0.563000	0.77884	CCC	DDX41	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif		0.547	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX41	HGNC	protein_coding	OTTHUMT00000253432.2	G	NM_016222		176942215	-1	no_errors	ENST00000507955	ensembl	human	known	70_37	missense	SNP	1.000	T
DIAPH3	81624	genome.wustl.edu	37	13	60453398	60453398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr13:60453398G>A	ENST00000400324.4	-	21	2792	c.2572C>T	c.(2572-2574)Caa>Taa	p.Q858*	DIAPH3_ENST00000267215.4_Nonsense_Mutation_p.Q858*|DIAPH3_ENST00000400330.1_Nonsense_Mutation_p.Q858*|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Nonsense_Mutation_p.Q812*|DIAPH3_ENST00000377908.2_Nonsense_Mutation_p.Q847*|DIAPH3_ENST00000400319.1_Nonsense_Mutation_p.Q788*	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	858	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CCGAAGGTTTGAGCATTCCGG	0.398																																																	0													99.0	92.0	94.0					13																	60453398		1855	4105	5960	SO:0001587	stop_gained	81624			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.2572C>T	13.37:g.60453398G>A	ENSP00000383178:p.Gln858*		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Nonsense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.Q858*	ENST00000400324.4	37	c.2572	CCDS41898.1	13	.	.	.	.	.	.	.	.	.	.	G	40	8.245542	0.98724	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	20.4324	0.99085	0.0:0.0:1.0:0.0	.	.	.	.	X	858;858;847;812;788;847;788;812;858;595;858	.	ENSP00000267214:Q595X	Q	-	1	0	DIAPH3	59351399	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.833000	0.97629	0.585000	0.79938	CAA	DIAPH3	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.398	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH3	HGNC	protein_coding	OTTHUMT00000045166.3	G	NM_001042517		60453398	-1	no_errors	ENST00000400324	ensembl	human	known	70_37	nonsense	SNP	1.000	A
DIAPH3	81624	genome.wustl.edu	37	13	60453560	60453560	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr13:60453560G>C	ENST00000400324.4	-	21	2630	c.2410C>G	c.(2410-2412)Ctc>Gtc	p.L804V	DIAPH3_ENST00000267215.4_Missense_Mutation_p.L804V|DIAPH3_ENST00000400330.1_Missense_Mutation_p.L804V|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.L758V|DIAPH3_ENST00000377908.2_Missense_Mutation_p.L793V|DIAPH3_ENST00000400319.1_Missense_Mutation_p.L734V	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	804	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGCTTAAAGAGAATAGCACTG	0.408																																																	0													91.0	85.0	87.0					13																	60453560		1910	4126	6036	SO:0001583	missense	81624			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.2410C>G	13.37:g.60453560G>C	ENSP00000383178:p.Leu804Val		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.L804V	ENST00000400324.4	37	c.2410	CCDS41898.1	13	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490983	0.84962	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;0.76	6.07	6.07	0.98685	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	D	0.84451	0.5475	M	0.87682	2.9	0.58432	D	0.999993	P;D;D	0.76494	0.457;0.982;0.999	B;D;D	0.77004	0.189;0.951;0.989	T	0.80859	-0.1194	10	0.25751	T	0.34	.	20.6525	0.99598	0.0:0.0:1.0:0.0	.	541;541;804	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	V	804;804;793;758;734;793;734;758;804;541;804	ENSP00000383178:L804V;ENSP00000383184:L804V;ENSP00000367141:L793V;ENSP00000383173:L734V;ENSP00000383174:L758V;ENSP00000267215:L804V	ENSP00000267214:L541V	L	-	1	0	DIAPH3	59351561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.890000	0.99128	0.585000	0.79938	CTC	DIAPH3	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.408	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH3	HGNC	protein_coding	OTTHUMT00000045166.3	G	NM_001042517		60453560	-1	no_errors	ENST00000400324	ensembl	human	known	70_37	missense	SNP	1.000	C
DKKL1	27120	genome.wustl.edu	37	19	49869116	49869116	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:49869116G>A	ENST00000221498.2	+	4	796	c.391G>A	c.(391-393)Gag>Aag	p.E131K	DKKL1_ENST00000594268.1_Intron|AC010524.2_ENST00000599433.1_RNA	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	131					anatomical structure morphogenesis (GO:0009653)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	signal transducer activity (GO:0004871)			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		TCAACCAGCGGAGGGGAGCTT	0.498																																																	0													105.0	97.0	100.0					19																	49869116		2203	4300	6503	SO:0001583	missense	27120			AB047816	CCDS12762.1	19q13.3	2010-10-12	2010-10-12		ENSG00000104901	ENSG00000104901			16528	protein-coding gene	gene with protein product	"""cancer/testis antigen 34"", ""soggy"""	605418	"""dickkopf-like 1 (soggy)"""			10570958	Standard	NM_001197301		Approved	SGY-1, CT34	uc002pnk.3	Q9UK85		ENST00000221498.2:c.391G>A	19.37:g.49869116G>A	ENSP00000221498:p.Glu131Lys			Missense_Mutation	SNP	NULL	p.E131K	ENST00000221498.2	37	c.391	CCDS12762.1	19	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738383	0.49045	.	.	ENSG00000104901	ENST00000221498	T	0.18502	2.21	4.5	2.32	0.28847	.	0.437670	0.19472	N	0.113428	T	0.18383	0.0441	M	0.68593	2.085	0.09310	N	1	B	0.23937	0.094	B	0.26864	0.074	T	0.21177	-1.0253	10	0.87932	D	0	-19.7931	6.4566	0.21934	0.1:0.1829:0.7171:0.0	.	131	Q9UK85	DKKL1_HUMAN	K	131	ENSP00000221498:E131K	ENSP00000221498:E131K	E	+	1	0	DKKL1	54560928	0.208000	0.23494	0.006000	0.13384	0.070000	0.16714	1.508000	0.35769	0.636000	0.30508	0.561000	0.74099	GAG	DKKL1	-	NULL		0.498	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKKL1	HGNC	protein_coding	OTTHUMT00000465454.2	G	NM_014419		49869116	+1	no_errors	ENST00000221498	ensembl	human	known	70_37	missense	SNP	0.011	A
DNA2	1763	genome.wustl.edu	37	10	70225560	70225560	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:70225560G>C	ENST00000358410.3	-	4	501	c.451C>G	c.(451-453)Cca>Gca	p.P151A	DNA2_ENST00000399180.2_Missense_Mutation_p.P237A|DNA2_ENST00000399179.2_Missense_Mutation_p.P151A	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	151	Nuclease activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CGTGTGGCTGGATCAGAGCTC	0.363																																																	0													59.0	56.0	57.0					10																	70225560		1868	4107	5975	SO:0001583	missense	1763			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.451C>G	10.37:g.70225560G>C	ENSP00000351185:p.Pro151Ala		Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	pfam_DNA_replication_fac_Dna2_N	p.P237A	ENST00000358410.3	37	c.709		10	.	.	.	.	.	.	.	.	.	.	G	4.897	0.166676	0.09339	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	D;D;D	0.93659	-2.75;-3.26;-2.73	5.8	-1.71	0.08133	DNA replication factor Dna2 (1);	0.868924	0.10275	N	0.694278	T	0.81211	0.4775	N	0.11789	0.175	0.09310	N	1	B;B	0.15930	0.015;0.013	B;B	0.15484	0.013;0.012	T	0.67814	-0.5573	10	0.09338	T	0.73	.	4.8203	0.13387	0.4853:0.0:0.2744:0.2402	.	151;151	F8VR31;P51530	.;DNA2L_HUMAN	A	151;237;151;151	ENSP00000382133:P237A;ENSP00000382132:P151A;ENSP00000351185:P151A	ENSP00000351185:P151A	P	-	1	0	DNA2	69895566	0.001000	0.12720	0.935000	0.37517	0.942000	0.58702	0.091000	0.15046	-0.115000	0.11915	0.585000	0.79938	CCA	DNA2	-	pfam_DNA_replication_fac_Dna2_N		0.363	DNA2-001	KNOWN	basic|appris_principal	protein_coding	DNA2	HGNC	protein_coding	OTTHUMT00000048334.2	G			70225560	-1	no_errors	ENST00000399180	ensembl	human	known	70_37	missense	SNP	0.018	C
DNAH3	55567	genome.wustl.edu	37	16	21110003	21110003	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:21110003C>G	ENST00000261383.3	-	17	2453	c.2454G>C	c.(2452-2454)atG>atC	p.M818I	DNAH3_ENST00000415178.1_Missense_Mutation_p.M818I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	818	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CATTGTGCTTCATTTCTTCTG	0.413																																																	0													168.0	155.0	159.0					16																	21110003		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2454G>C	16.37:g.21110003C>G	ENSP00000261383:p.Met818Ile		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.M818I	ENST00000261383.3	37	c.2454	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252397	0.22880	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.21031	2.03;2.18	5.71	4.76	0.60689	.	0.110544	0.64402	D	0.000010	T	0.14743	0.0356	L	0.37561	1.115	0.39044	D	0.960191	B	0.10296	0.003	B	0.08055	0.003	T	0.04413	-1.0953	10	0.05436	T	0.98	.	13.795	0.63166	0.0:0.9259:0.0:0.0741	.	818	Q8TD57	DYH3_HUMAN	I	818	ENSP00000261383:M818I;ENSP00000394245:M818I	ENSP00000261383:M818I	M	-	3	0	DNAH3	21017504	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.233000	0.43027	2.699000	0.92147	0.655000	0.94253	ATG	DNAH3	-	NULL		0.413	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	C	NM_017539		21110003	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	missense	SNP	1.000	G
DNAH6	1768	genome.wustl.edu	37	2	84912464	84912464	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:84912464G>A	ENST00000237449.6	+	42	6939	c.6931G>A	c.(6931-6933)Gat>Aat	p.D2311N	DNAH6_ENST00000602588.1_Intron|DNAH6_ENST00000398278.2_Intron|DNAH6_ENST00000389394.3_Missense_Mutation_p.D2311N			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2311					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CCTCCAATGTGATCCAGGAAC	0.318																																																	0													64.0	53.0	56.0					2																	84912464		692	1590	2282	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.6931G>A	2.37:g.84912464G>A	ENSP00000237449:p.Asp2311Asn		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.D2311N	ENST00000237449.6	37	c.6931	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163943	0.57476	.	.	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.35048	1.33;1.33	5.61	5.61	0.85477	.	.	.	.	.	T	0.34948	0.0915	L	0.42008	1.315	0.80722	D	1	B	0.19583	0.037	B	0.24701	0.055	T	0.07693	-1.0759	9	0.22109	T	0.4	.	18.3787	0.90443	0.0:0.0:1.0:0.0	.	2311	Q9C0G6	DYH6_HUMAN	N	2311	ENSP00000374045:D2311N;ENSP00000237449:D2311N	ENSP00000237449:D2311N	D	+	1	0	DNAH6	84765975	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	3.568000	0.53820	2.644000	0.89710	0.650000	0.86243	GAT	DNAH6	-	NULL		0.318	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	G	NM_001370		84912464	+1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	1.000	A
DNAH6	1768	genome.wustl.edu	37	2	84924865	84924865	+	Intron	SNP	G	G	A	rs112288478	byFrequency	TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:84924865G>A	ENST00000237449.6	+	46	7685				DNAH6_ENST00000602588.1_Missense_Mutation_p.R536K|DNAH6_ENST00000398278.2_Missense_Mutation_p.R2515K|DNAH6_ENST00000389394.3_Intron			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GGATGTGCCAGAGTAGTTATG	0.393																																																	0													104.0	102.0	103.0					2																	84924865		692	1591	2283	SO:0001627	intron_variant	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.7677+14G>A	2.37:g.84924865G>A			A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R2515K	ENST00000237449.6	37	c.7544	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	13.81	2.348074	0.41599	.	.	ENSG00000115423	ENST00000398278	T	0.20463	2.07	4.78	-1.79	0.07932	.	.	.	.	.	T	0.09113	0.0225	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35968	-0.9767	7	.	.	.	.	1.9546	0.03373	0.4899:0.1487:0.2235:0.1379	.	2515	Q9C0G6-4	.	K	2515	ENSP00000381326:R2515K	.	R	+	2	0	DNAH6	84778376	0.000000	0.05858	0.000000	0.03702	0.198000	0.23893	0.458000	0.21892	-0.237000	0.09739	0.305000	0.20034	AGA	DNAH6	-	NULL		0.393	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	G	NM_001370		84924865	+1	no_errors	ENST00000398278	ensembl	human	known	70_37	missense	SNP	0.000	A
DNAJB14	79982	genome.wustl.edu	37	4	100826837	100826837	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:100826837C>T	ENST00000442697.2	-	6	913	c.759G>A	c.(757-759)ctG>ctA	p.L253L		NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	253						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		TTATGGGCATCAGCTGGATAA	0.333																																																	0													96.0	97.0	97.0					4																	100826837		2203	4300	6503	SO:0001819	synonymous_variant	79982			BC022248	CCDS34035.1, CCDS75171.1	4q23	2011-09-02			ENSG00000164031	ENSG00000164031		"""Heat shock proteins / DNAJ (HSP40)"""	25881	protein-coding gene	gene with protein product							Standard	NM_001031723		Approved	FLJ14281	uc003hvl.4	Q8TBM8	OTTHUMG00000131049	ENST00000442697.2:c.759G>A	4.37:g.100826837C>T			Q6UXN1|Q7Z3P0|Q86TA7|Q86TM0|Q9GZU9	Silent	SNP	pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.L253	ENST00000442697.2	37	c.759	CCDS34035.1	4																																																																																			DNAJB14	-	NULL		0.333	DNAJB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB14	HGNC	protein_coding	OTTHUMT00000253696.2	C	NM_001031723.2		100826837	-1	no_errors	ENST00000442697	ensembl	human	known	70_37	silent	SNP	1.000	T
DNAJC10	54431	genome.wustl.edu	37	2	183619808	183619808	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:183619808G>A	ENST00000264065.7	+	17	2045	c.1630G>A	c.(1630-1632)Gaa>Aaa	p.E544K		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	544	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCACTCTGCTGAACAAATCTT	0.348																																					Pancreas(56;860 1183 25669 35822 48585)												0													102.0	95.0	98.0					2																	183619808		2203	4298	6501	SO:0001583	missense	54431				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1630G>A	2.37:g.183619808G>A	ENSP00000264065:p.Glu544Lys		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_DnaJ_N,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_N,smart_DnaJ_N,pirsf_DnaJ_homolog_subfam-C,pfscan_DnaJ_N,prints_Hsp_DnaJ,prints_Thioredoxin	p.E544K	ENST00000264065.7	37	c.1630	CCDS33345.1	2	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678881	0.88542	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.44881	0.91	6.17	6.17	0.99709	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.050677	0.85682	D	0.000000	T	0.33265	0.0857	N	0.26042	0.785	0.80722	D	1	B;B	0.33448	0.2;0.412	B;B	0.30316	0.077;0.114	T	0.05209	-1.0899	10	0.19590	T	0.45	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	498;544	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	K	544;498	ENSP00000264065:E544K	ENSP00000264065:E544K	E	+	1	0	DNAJC10	183328053	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.646000	0.74348	2.941000	0.99782	0.655000	0.94253	GAA	DNAJC10	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_DnaJ_homolog_subfam-C		0.348	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC10	HGNC	protein_coding	OTTHUMT00000334418.2	G	NM_018981		183619808	+1	no_errors	ENST00000264065	ensembl	human	known	70_37	missense	SNP	1.000	A
DOPEY1	23033	genome.wustl.edu	37	6	83849973	83849973	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:83849973G>A	ENST00000349129.2	+	23	5526	c.5266G>A	c.(5266-5268)Gaa>Aaa	p.E1756K	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.E1737K|DOPEY1_ENST00000369739.3_Missense_Mutation_p.E1747K	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1756					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ACACTTGTTTGAAGCACGCAG	0.388																																																	0													136.0	126.0	129.0					6																	83849973		2203	4300	6503	SO:0001583	missense	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.5266G>A	6.37:g.83849973G>A	ENSP00000195654:p.Glu1756Lys		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.E1756K	ENST00000349129.2	37	c.5266	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610707	0.66558	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.24538	1.85;1.88	5.55	4.69	0.59074	.	0.045294	0.85682	N	0.000000	T	0.09905	0.0243	L	0.34521	1.04	0.80722	D	1	B;B;B	0.13594	0.008;0.001;0.001	B;B;B	0.14023	0.01;0.001;0.003	T	0.05920	-1.0856	10	0.27785	T	0.31	.	14.5053	0.67748	0.0707:0.0:0.9293:0.0	.	1647;1747;1756	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	K	1756;1737;1737	ENSP00000195654:E1756K;ENSP00000237163:E1737K	ENSP00000237163:E1737K	E	+	1	0	DOPEY1	83906692	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.581000	0.82535	1.477000	0.48234	0.585000	0.79938	GAA	DOPEY1	-	superfamily_ARM-type_fold		0.388	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2	G	NM_015018		83849973	+1	no_errors	ENST00000349129	ensembl	human	known	70_37	missense	SNP	1.000	A
DPP7	29952	genome.wustl.edu	37	9	140006564	140006564	+	Splice_Site	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:140006564C>T	ENST00000371579.2	-	9	1054	c.1050G>A	c.(1048-1050)caG>caA	p.Q350Q		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	350						cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		ACCCCCACACCTGGTAGTCCC	0.697																																																	0													36.0	41.0	39.0					9																	140006564		2198	4298	6496	SO:0001630	splice_region_variant	29952			AF154502	CCDS7030.1	9q34.3	2008-02-05	2006-01-12		ENSG00000176978	ENSG00000176978			14892	protein-coding gene	gene with protein product		610537	"""dipeptidylpeptidase 7"""			10477574, 11139392	Standard	XM_005266075		Approved	DPPII	uc004clh.3	Q9UHL4	OTTHUMG00000020977	ENST00000371579.2:c.1050+1G>A	9.37:g.140006564C>T			A8K7U7|Q5VSF1|Q969X4	Silent	SNP	pfam_Peptidase_S28,pfam_AB_hydrolase_1	p.Q350	ENST00000371579.2	37	c.1050	CCDS7030.1	9																																																																																			DPP7	-	pfam_Peptidase_S28		0.697	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP7	HGNC	protein_coding	OTTHUMT00000055279.1	C	NM_013379	Silent	140006564	-1	no_errors	ENST00000371579	ensembl	human	known	70_37	silent	SNP	1.000	T
DST	667	genome.wustl.edu	37	6	56458793	56458793	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:56458793G>A	ENST00000361203.3	-	44	11768	c.11761C>T	c.(11761-11763)Ctg>Ttg	p.L3921L	DST_ENST00000244364.6_Silent_p.L1509L|DST_ENST00000446842.2_Silent_p.L3597L|DST_ENST00000312431.6_Silent_p.L3921L|DST_ENST00000421834.2_Silent_p.L1835L|DST_ENST00000370754.5_Silent_p.L4101L|DST_ENST00000370788.2_Silent_p.L1835L|DST_ENST00000370769.4_Silent_p.L3923L			Q03001	DYST_HUMAN	dystonin	3921					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTTCCTGCAGAGAGTGAGTT	0.413																																																	0													81.0	73.0	75.0					6																	56458793		1902	4122	6024	SO:0001819	synonymous_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.11761C>T	6.37:g.56458793G>A			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.L4101	ENST00000361203.3	37	c.12301		6																																																																																			DST	-	superfamily_ABC_transptrTM_dom_typ1		0.413	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	G	NM_001723		56458793	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	silent	SNP	0.996	A
DYNC1H1	1778	genome.wustl.edu	37	14	102473425	102473425	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:102473425G>A	ENST00000360184.4	+	28	5961	c.5797G>A	c.(5797-5799)Gat>Aat	p.D1933N		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1933	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTTCAACTGTGATGAAACCTT	0.438																																																	0													152.0	129.0	137.0					14																	102473425		2203	4300	6503	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.5797G>A	14.37:g.102473425G>A	ENSP00000348965:p.Asp1933Asn		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.D1933N	ENST00000360184.4	37	c.5797	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.748562	0.96882	.	.	ENSG00000197102	ENST00000360184	T	0.38887	1.11	5.79	5.79	0.91817	ATPase, AAA+ type, core (1);	0.051549	0.85682	D	0.000000	T	0.70996	0.3288	M	0.88704	2.975	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	T	0.71803	-0.4482	10	0.39692	T	0.17	.	20.0435	0.97601	0.0:0.0:1.0:0.0	.	1933	Q14204	DYHC1_HUMAN	N	1933	ENSP00000348965:D1933N	ENSP00000348965:D1933N	D	+	1	0	DYNC1H1	101543178	1.000000	0.71417	0.970000	0.41538	0.997000	0.91878	9.799000	0.99117	2.731000	0.93534	0.650000	0.86243	GAT	DYNC1H1	-	smart_AAA+_ATPase		0.438	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	G	NM_001376		102473425	+1	no_errors	ENST00000360184	ensembl	human	known	70_37	missense	SNP	1.000	A
DYNC1I2	1781	genome.wustl.edu	37	2	172586253	172586253	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:172586253C>G	ENST00000397119.3	+	15	1593	c.1426C>G	c.(1426-1428)Caa>Gaa	p.Q476E	DYNC1I2_ENST00000409197.1_Missense_Mutation_p.Q450E|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.Q468E|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.Q450E|DYNC1I2_ENST00000534253.2_Missense_Mutation_p.Q476E|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.Q450E|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.Q470E|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.Q476E|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.Q470E|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.Q476E|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.Q468E	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	476					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			TGAGGGGCATCAAGGACCAAT	0.393																																																	0													106.0	102.0	103.0					2																	172586253		1906	4121	6027	SO:0001583	missense	1781			AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2964	protein-coding gene	gene with protein product		603331	"""dynein, cytoplasmic, intermediate polypeptide 2"""	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.1426C>G	2.37:g.172586253C>G	ENSP00000380308:p.Gln476Glu		B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Missense_Mutation	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.Q476E	ENST00000397119.3	37	c.1426	CCDS46450.1	2	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666010	0.47677	.	.	ENSG00000077380	ENST00000340296;ENST00000534253;ENST00000263811;ENST00000397119;ENST00000410079;ENST00000508530;ENST00000409197;ENST00000409317;ENST00000409773;ENST00000409453;ENST00000358002	T;T;T;T;T;T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45	5.93	5.93	0.95920	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.093452	0.85682	D	0.000000	T	0.48370	0.1496	N	0.25647	0.755	0.80722	D	1	B;P;B;B;P	0.40681	0.001;0.727;0.125;0.125;0.589	B;B;B;B;B	0.43194	0.002;0.411;0.098;0.098;0.411	T	0.31833	-0.9929	10	0.30854	T	0.27	-14.2869	20.3334	0.98727	0.0:1.0:0.0:0.0	.	199;468;450;450;476	B4DX93;B7ZA04;Q13409-6;Q13409-3;Q13409	.;.;.;.;DC1I2_HUMAN	E	450;476;470;476;468;450;450;470;476;476;468	ENSP00000339430:Q450E;ENSP00000433791:Q476E;ENSP00000263811:Q470E;ENSP00000380308:Q476E;ENSP00000386522:Q468E;ENSP00000423339:Q450E;ENSP00000386397:Q450E;ENSP00000386591:Q470E;ENSP00000386415:Q476E;ENSP00000386886:Q476E;ENSP00000350692:Q468E	ENSP00000263811:Q470E	Q	+	1	0	DYNC1I2	172294499	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.792000	0.85828	2.818000	0.97014	0.591000	0.81541	CAA	DYNC1I2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.393	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	DYNC1I2	HGNC	protein_coding	OTTHUMT00000333683.2	C	NM_001378		172586253	+1	no_errors	ENST00000397119	ensembl	human	known	70_37	missense	SNP	1.000	G
DZIP3	9666	genome.wustl.edu	37	3	108407541	108407541	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:108407541C>T	ENST00000361582.3	+	30	3602	c.3372C>T	c.(3370-3372)ctC>ctT	p.L1124L	DZIP3_ENST00000463306.1_Silent_p.L1124L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	1124					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GGAGGCCACTCACTTCACAGG	0.458																																																	0													40.0	41.0	41.0					3																	108407541		2203	4300	6503	SO:0001819	synonymous_variant	9666			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.3372C>T	3.37:g.108407541C>T			B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L1124	ENST00000361582.3	37	c.3372	CCDS2952.1	3																																																																																			DZIP3	-	NULL		0.458	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP3	HGNC	protein_coding	OTTHUMT00000353968.1	C	NM_014648		108407541	+1	no_errors	ENST00000361582	ensembl	human	known	70_37	silent	SNP	0.227	T
E2F8	79733	genome.wustl.edu	37	11	19247095	19247095	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:19247095C>G	ENST00000527884.1	-	12	2326	c.2094G>C	c.(2092-2094)ttG>ttC	p.L698F	E2F8_ENST00000529188.1_5'UTR|RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.L698F	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	698					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCATTAGCTTCAACGGTGTTA	0.498																																																	0													82.0	80.0	81.0					11																	19247095		2199	4293	6492	SO:0001583	missense	79733				CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.2094G>C	11.37:g.19247095C>G	ENSP00000434199:p.Leu698Phe		A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	pfam_E2F_TDP	p.L698F	ENST00000527884.1	37	c.2094	CCDS7849.1	11	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604516	0.28623	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	T;T	0.22945	1.93;1.93	5.98	4.11	0.48088	.	0.592490	0.15050	N	0.283363	T	0.25005	0.0607	L	0.45581	1.43	0.42755	D	0.993788	B	0.24768	0.111	B	0.27796	0.083	T	0.03630	-1.1018	10	0.56958	D	0.05	-1.4903	10.157	0.42829	0.0:0.7912:0.1366:0.0722	.	698	A0AVK6	E2F8_HUMAN	F	698	ENSP00000434199:L698F;ENSP00000250024:L698F	ENSP00000250024:L698F	L	-	3	2	E2F8	19203671	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.627000	0.24506	0.854000	0.35336	0.591000	0.81541	TTG	E2F8	-	NULL		0.498	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F8	HGNC	protein_coding	OTTHUMT00000387830.1	C	NM_024680		19247095	-1	no_errors	ENST00000250024	ensembl	human	known	70_37	missense	SNP	1.000	G
EEF2	1938	genome.wustl.edu	37	19	3979965	3979965	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:3979965C>T	ENST00000309311.6	-	10	1534	c.1446G>A	c.(1444-1446)acG>acA	p.T482T	SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	482					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATGGTGCCCGTCTTCACCA	0.602																																					Colon(165;1804 1908 4071 6587 18799)												0													71.0	57.0	62.0					19																	3979965		2203	4300	6503	SO:0001819	synonymous_variant	1938			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1446G>A	19.37:g.3979965C>T			B2RMP5|D6W618|Q58J86	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.T482	ENST00000309311.6	37	c.1446	CCDS12117.1	19																																																																																			EEF2	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel		0.602	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2	HGNC	protein_coding	OTTHUMT00000457615.2	C	NM_001961		3979965	-1	no_errors	ENST00000309311	ensembl	human	known	70_37	silent	SNP	0.003	T
EFHC2	80258	genome.wustl.edu	37	X	44091896	44091896	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:44091896C>G	ENST00000420999.1	-	10	1534	c.1451G>C	c.(1450-1452)aGa>aCa	p.R484T		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	484	DM10 3. {ECO:0000255|PROSITE- ProRule:PRU00665}.						calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						AACGCGACTTCTTTTCAAGAA	0.393																																																	0													45.0	38.0	41.0					X																	44091896		1875	4089	5964	SO:0001583	missense	80258			AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.1451G>C	X.37:g.44091896C>G	ENSP00000404232:p.Arg484Thr		Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_HAND_2	p.R484T	ENST00000420999.1	37	c.1451	CCDS55405.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.58|15.58	2.875099|2.875099	0.51695|0.51695	.|.	.|.	ENSG00000183690|ENSG00000183690	ENST00000441230|ENST00000333807;ENST00000420999	T|T;T	0.50813|0.78246	0.73|-1.16;-1.16	5.85|5.85	5.85|5.85	0.93711|0.93711	.|Uncharacterised domain DM10 (2);	.|0.053022	.|0.64402	.|D	.|0.000001	D|D	0.91573|0.91573	0.7338|0.7338	H|H	0.96208|0.96208	3.785|3.785	0.58432|0.58432	D|D	0.999994|0.999994	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	D|D	0.93788|0.93788	0.7090|0.7090	7|10	0.66056|0.87932	D|D	0.02|0	-25.7409|-25.7409	14.386|14.386	0.66945|0.66945	0.0:0.9257:0.0:0.0743|0.0:0.9257:0.0:0.0743	.|.	.|484	.|Q5JST6	.|EFHC2_HUMAN	N|T	464|484;512	ENSP00000397513:K464N|ENSP00000333823:R484T;ENSP00000404232:R512T	ENSP00000397513:K464N|ENSP00000333823:R484T	K|R	-|-	3|2	2|0	EFHC2|EFHC2	43976840|43976840	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.266000|0.266000	0.26442|0.26442	5.223000|5.223000	0.65283|0.65283	2.472000|2.472000	0.83506|0.83506	0.600000|0.600000	0.82982|0.82982	AAG|AGA	EFHC2	-	pfam_DUF1126,smart_Uncharacterised_DM10		0.393	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	EFHC2	HGNC	protein_coding	OTTHUMT00000056312.2	C	NM_025184		44091896	-1	no_errors	ENST00000333807	ensembl	human	known	70_37	missense	SNP	1.000	G
EIF2AK2	5610	genome.wustl.edu	37	2	37365709	37365709	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:37365709G>A	ENST00000233057.4	-	7	858	c.536C>T	c.(535-537)tCt>tTt	p.S179F	EIF2AK2_ENST00000395127.2_Missense_Mutation_p.S179F|EIF2AK2_ENST00000405334.1_Missense_Mutation_p.S179F	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	179					activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				AAAAGAACCAGAGGACAGGTA	0.363																																																	0													91.0	94.0	93.0					2																	37365709		2203	4300	6503	SO:0001583	missense	5610			BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 83"""	176871	"""protein kinase, interferon-inducible double stranded RNA dependent"""	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.536C>T	2.37:g.37365709G>A	ENSP00000233057:p.Ser179Phe		A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ds-RNA-bd,superfamily_Kinase-like_dom,smart_Ds-RNA-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ds-RNA-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S179F	ENST00000233057.4	37	c.536	CCDS1786.1	2	.	.	.	.	.	.	.	.	.	.	G	7.500	0.652536	0.14580	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334;ENST00000379156	T;T;T	0.77229	-1.0;-1.0;-1.08	3.61	-0.481	0.12082	.	2.489710	0.01801	N	0.032872	T	0.72803	0.3506	M	0.66939	2.045	0.09310	N	1	B;B;B;B	0.24882	0.005;0.01;0.01;0.113	B;B;B;B	0.20577	0.01;0.006;0.006;0.03	T	0.52335	-0.8589	10	0.72032	D	0.01	0.2327	0.9855	0.01445	0.2149:0.1786:0.4232:0.1832	.	179;179;179;179	Q8IW76;B7ZKK7;P19525;E9PC80	.;.;E2AK2_HUMAN;.	F	179	ENSP00000233057:S179F;ENSP00000378559:S179F;ENSP00000385014:S179F	ENSP00000233057:S179F	S	-	2	0	EIF2AK2	37219213	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.045000	0.12003	-0.107000	0.12088	-0.312000	0.09012	TCT	EIF2AK2	-	NULL		0.363	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK2	HGNC	protein_coding	OTTHUMT00000218571.2	G	NM_002759		37365709	-1	no_errors	ENST00000233057	ensembl	human	known	70_37	missense	SNP	0.000	A
AGO3	192669	genome.wustl.edu	37	1	36499858	36499858	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:36499858C>T	ENST00000373191.4	+	13	2024	c.1675C>T	c.(1675-1677)Caa>Taa	p.Q559*	AGO3_ENST00000246314.6_Nonsense_Mutation_p.Q325*	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	559	Piwi. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										AACATCTCCTCAAACTCTGTC	0.368																																																	0													78.0	76.0	77.0					1																	36499858		2203	4300	6503	SO:0001587	stop_gained	192669			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.1675C>T	1.37:g.36499858C>T	ENSP00000362287:p.Gln559*		B1ALI0|Q5TA55|Q9H1U6	Nonsense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.Q559*	ENST00000373191.4	37	c.1675	CCDS399.1	1	.	.	.	.	.	.	.	.	.	.	C	42	9.473807	0.99181	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	.	.	.	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-42.692	17.8765	0.88826	0.0:1.0:0.0:0.0	.	.	.	.	X	559;325	.	ENSP00000246314:Q325X	Q	+	1	0	EIF2C3	36272445	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.288000	0.76882	0.655000	0.94253	CAA	EIF2C3	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi		0.368	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C3	HGNC	protein_coding	OTTHUMT00000019831.4	C	NM_024852		36499858	+1	no_errors	ENST00000373191	ensembl	human	known	70_37	nonsense	SNP	1.000	T
EIF3A	8661	genome.wustl.edu	37	10	120829034	120829034	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:120829034G>T	ENST00000369144.3	-	6	1001	c.874C>A	c.(874-876)Cat>Aat	p.H292N	EIF3A_ENST00000541549.1_Missense_Mutation_p.H258N	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GTAGATGCATGAAAAAGAGCA	0.353																																																	0													139.0	129.0	132.0					10																	120829034		2203	4300	6503	SO:0001583	missense	8661			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.874C>A	10.37:g.120829034G>T	ENSP00000358140:p.His292Asn		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	pfam_PCI_dom,smart_PCI_dom	p.H292N	ENST00000369144.3	37	c.874	CCDS7608.1	10	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059292	0.76074	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.45668	0.89;0.89	5.87	5.87	0.94306	.	0.000000	0.40385	N	0.001101	T	0.71264	0.3319	M	0.86805	2.84	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.73739	-0.3888	10	0.66056	D	0.02	-39.4608	20.5827	0.99408	0.0:0.0:1.0:0.0	.	292	Q14152	EIF3A_HUMAN	N	292;258	ENSP00000358140:H292N;ENSP00000438178:H258N	ENSP00000358140:H292N	H	-	1	0	EIF3A	120819024	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.772000	0.98984	2.941000	0.99782	0.655000	0.94253	CAT	EIF3A	-	NULL		0.353	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3A	HGNC	protein_coding	OTTHUMT00000050634.1	G	NM_003750		120829034	-1	no_errors	ENST00000369144	ensembl	human	known	70_37	missense	SNP	1.000	T
ELF2	1998	genome.wustl.edu	37	4	139980712	139980712	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:139980712G>A	ENST00000394235.2	-	10	1673	c.1171C>T	c.(1171-1173)Cag>Tag	p.Q391*	ELF2_ENST00000265495.4_Nonsense_Mutation_p.Q391*|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000510408.1_Nonsense_Mutation_p.Q331*|ELF2_ENST00000358635.3_Nonsense_Mutation_p.Q343*|ELF2_ENST00000379550.1_Nonsense_Mutation_p.Q403*|ELF2_ENST00000379549.2_Nonsense_Mutation_p.Q314*	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)											endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GAAATTTTCTGACCCAATGAT	0.403																																																	0													103.0	99.0	100.0					4																	139980712		2203	4299	6502	SO:0001587	stop_gained	1998			AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.1171C>T	4.37:g.139980712G>A	ENSP00000377782:p.Gln391*			Nonsense_Mutation	SNP	pfam_TF_Elf_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.Q403*	ENST00000394235.2	37	c.1207	CCDS3744.1	4	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794988	0.90453	.	.	ENSG00000109381	ENST00000358635;ENST00000394235;ENST00000379550;ENST00000265495;ENST00000379549;ENST00000540754;ENST00000510408	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6057	0.95580	0.0:0.0:1.0:0.0	.	.	.	.	X	343;391;403;391;314;206;331	.	.	Q	-	1	0	ELF2	140200162	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.356000	0.79445	2.629000	0.89072	0.650000	0.86243	CAG	ELF2	-	NULL		0.403	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF2	HGNC	protein_coding	OTTHUMT00000257233.2	G	NM_006874		139980712	-1	no_errors	ENST00000379550	ensembl	human	known	70_37	nonsense	SNP	1.000	A
EMC3	55831	genome.wustl.edu	37	3	10012302	10012302	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:10012302G>A	ENST00000245046.2	-	6	996	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	EMC3_ENST00000497557.1_5'UTR	NM_018447.2	NP_060917.1	Q9P0I2	EMC3_HUMAN	ER membrane protein complex subunit 3	180						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TAAATGCTCCGAAGCCCAAAT	0.398																																																	0													126.0	124.0	125.0					3																	10012302		2203	4300	6503	SO:0001583	missense	55831			AF157321	CCDS2594.1	3p25.3	2012-05-23	2012-05-23	2012-05-23	ENSG00000125037	ENSG00000125037			23999	protein-coding gene	gene with protein product			"""transmembrane protein 111"""	TMEM111		19797678, 22119785	Standard	NM_018447		Approved		uc003bun.3	Q9P0I2	OTTHUMG00000128652	ENST00000245046.2:c.538C>T	3.37:g.10012302G>A	ENSP00000245046:p.Arg180Trp		B2R4Z9|Q53GH8|Q6ZMC2	Missense_Mutation	SNP	pfam_DUF106_TM,pirsf_UCP010045_TM_euk	p.R180W	ENST00000245046.2	37	c.538	CCDS2594.1	3	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254564	0.80135	.	.	ENSG00000125037	ENST00000245046	.	.	.	5.91	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.81365	0.4807	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83710	0.0187	9	0.87932	D	0	.	7.8515	0.29457	0.0808:0.0:0.7594:0.1598	.	180;180	Q9P0I2-2;Q9P0I2	.;TM111_HUMAN	W	180	.	ENSP00000245046:R180W	R	-	1	2	TMEM111	9987302	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	2.460000	0.45031	1.515000	0.48885	0.655000	0.94253	CGG	EMC3	-	pfam_DUF106_TM,pirsf_UCP010045_TM_euk		0.398	EMC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMC3	HGNC	protein_coding	OTTHUMT00000250532.1	G	NM_018447		10012302	-1	no_errors	ENST00000245046	ensembl	human	known	70_37	missense	SNP	0.998	A
EMC9	51016	genome.wustl.edu	37	14	24608883	24608883	+	Intron	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:24608883G>A	ENST00000419198.2	-	3	556				EMC9_ENST00000560403.1_5'UTR|EMC9_ENST00000558200.1_5'UTR|EMC9_ENST00000216799.4_Intron|RP11-468E2.5_ENST00000558478.1_lincRNA			Q9Y3B6	EMC9_HUMAN	ER membrane protein complex subunit 9							cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)											CCATCCATTTGAGCTGGGCCT	0.602																																																	0													14.0	13.0	13.0					14																	24608883		692	1591	2283	SO:0001627	intron_variant	51016			BF346999	CCDS9613.1	14q12	2012-05-30	2012-05-30	2012-05-30	ENSG00000100908	ENSG00000100908			20273	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 122"", ""family with sequence similarity 158, member A"""	C14orf122, FAM158A		22119785	Standard	NM_016049		Approved	CGI-112	uc001wmi.3	Q9Y3B6	OTTHUMG00000028796	ENST00000419198.2:c.276-60C>T	14.37:g.24608883G>A			D3DS60|Q9BUM3	RNA	SNP	-	NULL	ENST00000419198.2	37	NULL	CCDS9613.1	14																																																																																			EMC9	-	-		0.602	EMC9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EMC9	HGNC	protein_coding	OTTHUMT00000071917.4	G	NM_016049		24608883	-1	no_errors	ENST00000558200	ensembl	human	known	70_37	rna	SNP	0.030	A
EML3	256364	genome.wustl.edu	37	11	62371633	62371633	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:62371633C>T	ENST00000394773.2	-	17	2330	c.2023G>A	c.(2023-2025)Gat>Aat	p.D675N	EML3_ENST00000494176.2_Missense_Mutation_p.D647N|MTA2_ENST00000278823.2_5'Flank|MTA2_ENST00000527204.1_5'Flank|EML3_ENST00000278845.4_Missense_Mutation_p.D676N|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000531557.1_Missense_Mutation_p.D458N|EML3_ENST00000438258.1_5'Flank|EML3_ENST00000529309.1_Missense_Mutation_p.D675N	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	675						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCAATGACATCAGACACGATC	0.572																																																	0													108.0	90.0	96.0					11																	62371633		2202	4299	6501	SO:0001583	missense	256364			AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.2023G>A	11.37:g.62371633C>T	ENSP00000378254:p.Asp675Asn		Q6ZQW7|Q8NA55	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D675N	ENST00000394773.2	37	c.2023	CCDS8023.2	11	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408685	0.62399	.	.	ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309	T;T;T;T;T	0.39056	1.1;1.1;1.62;1.62;1.62	5.2	5.2	0.72013	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.208552	0.46145	D	0.000317	T	0.45316	0.1336	N	0.22421	0.69	0.09310	N	1	D;D;B;D;P	0.58970	0.984;0.971;0.42;0.979;0.944	P;P;B;P;P	0.60789	0.879;0.856;0.047;0.828;0.719	T	0.35176	-0.9799	10	0.59425	D	0.04	-15.6517	11.6601	0.51341	0.1771:0.8229:0.0:0.0	.	675;675;458;676;647	Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0	.;EMAL3_HUMAN;.;.;.	N	675;676;458;647;675	ENSP00000378254:D675N;ENSP00000278845:D676N;ENSP00000433417:D458N;ENSP00000435064:D647N;ENSP00000434513:D675N	ENSP00000278845:D676N	D	-	1	0	EML3	62128209	0.000000	0.05858	0.369000	0.25952	0.973000	0.67179	0.991000	0.29654	2.594000	0.87642	0.555000	0.69702	GAT	EML3	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.572	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	EML3	HGNC	protein_coding	OTTHUMT00000313432.1	C	NM_153265		62371633	-1	no_errors	ENST00000529309	ensembl	human	known	70_37	missense	SNP	0.023	T
ENO2	2026	genome.wustl.edu	37	12	7031194	7031194	+	Intron	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:7031194G>C	ENST00000535366.1	+	9	1693				ENO2_ENST00000534977.1_3'UTR|ATN1_ENST00000356654.4_5'Flank|ENO2_ENST00000229277.1_Intron|ENO2_ENST00000538763.1_Intron|ENO2_ENST00000545045.2_Intron|ENO2_ENST00000541477.1_Intron|ENO2_ENST00000544774.1_Intron			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)						carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perikaryon (GO:0043204)|phosphopyruvate hydratase complex (GO:0000015)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GAGAGCTGGAGAATCAGTGCT	0.547																																																	0													79.0	79.0	79.0					12																	7031194		2203	4300	6503	SO:0001627	intron_variant	2026			M22349	CCDS8570.1	12p13	2012-10-02				ENSG00000111674	4.2.1.11		3353	protein-coding gene	gene with protein product		131360					Standard	NM_001975		Approved		uc001qru.1	P09104		ENST00000535366.1:c.1068-25G>C	12.37:g.7031194G>C			B7Z2X9|Q96J33	RNA	SNP	-	NULL	ENST00000535366.1	37	NULL	CCDS8570.1	12																																																																																			ENO2	-	-		0.547	ENO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO2	HGNC	protein_coding	OTTHUMT00000401786.1	G			7031194	+1	no_errors	ENST00000534977	ensembl	human	putative	70_37	rna	SNP	0.013	C
LINC01602	100505477	genome.wustl.edu	37	8	58893474	58893474	+	lincRNA	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:58893474C>G	ENST00000522992.1	+	0	149																											CCAAGTAAATCAAAAGGAACA	0.303																																																	0																																												0																															8.37:g.58893474C>G				RNA	SNP	-	NULL	ENST00000522992.1	37	NULL		8																																																																																			RP11-1112C15.1	-	-		0.303	RP11-1112C15.1-001	KNOWN	basic	lincRNA	ENSG00000205293	Clone_based_vega_gene	lincRNA	OTTHUMT00000378087.1	C			58893474	+1	no_errors	ENST00000522992	ensembl	human	known	70_37	rna	SNP	0.007	G
Unknown	0	genome.wustl.edu	37	GL000212.1	65087	65087	+	IGR	SNP	G	G	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrGL000212.1:65087G>T								None (None upstream) : None (None downstream)																							ACGCCGTCCAGGGCATCGCTA	0.657																																																	0																																										SO:0001628	intergenic_variant	0																															GL000212.1.37:g.65087G>T				Missense_Mutation	SNP	NULL	p.R279M		37	c.836		GL000212.1																																																																																			AL356585.1	-	NULL	0	0.657					ENSG00000212857	Clone_based_ensembl_gene			G			65087	+1	no_errors	ENST00000391545	ensembl	human	known	70_37	missense	SNP	NULL	T
ZNF888	388559	genome.wustl.edu	37	19	53421114	53421114	+	lincRNA	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:53421114G>C	ENST00000596623.1	-	0	238							P0CJ79	ZN888_HUMAN	zinc finger protein 888						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CATCTCACCTGAGGAAGAGCC	0.443																																																	0													142.0	129.0	133.0					19																	53421114		876	1989	2865			0					19q13.41	2013-02-15			ENSG00000213793	ENSG00000213793		"""Zinc fingers, C2H2-type"", ""-"""	38695	protein-coding gene	gene with protein product							Standard	XM_005275849		Approved			P0CJ79			19.37:g.53421114G>C				RNA	SNP	-	NULL	ENST00000596623.1	37	NULL		19	.	.	.	.	.	.	.	.	.	.	-	11.60	1.687684	0.29962	.	.	ENSG00000213793	ENST00000454258	.	.	.	1.42	0.315	0.15852	.	.	.	.	.	T	0.50000	0.1590	M	0.72894	2.215	.	.	.	.	.	.	.	.	.	T	0.56792	-0.7920	5	0.66056	D	0.02	.	3.7229	0.08463	0.2567:0.0:0.7433:0.0	.	.	.	.	E	5	.	ENSP00000401894:Q5E	Q	-	1	0	AC010487.1	58112926	0.026000	0.19158	0.052000	0.19188	0.225000	0.24961	0.125000	0.15749	0.157000	0.19338	0.194000	0.17425	CAG	CTD-2331H12.6	-	-		0.443	ZNF888-001	KNOWN	basic	lincRNA	ENSG00000213793	Clone_based_vega_gene	lincRNA	OTTHUMT00000463875.1	G	XM_496322		53421114	-1	no_errors	ENST00000454258	ensembl	human	known	70_37	rna	SNP	0.080	C
RP11-202G11.2	0	genome.wustl.edu	37	12	93491070	93491070	+	lincRNA	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:93491070G>A	ENST00000551928.1	+	0	334				RP11-511B23.2_ENST00000550324.1_RNA|AC138123.1_ENST00000408690.1_RNA|RP11-511B23.2_ENST00000549930.1_RNA																							gccattaaaagcaatggcaaa	0.353																																																	0																																												0																															12.37:g.93491070G>A				RNA	SNP	-	NULL	ENST00000551928.1	37	NULL		12																																																																																			AC138123.1	-	-		0.353	RP11-202G11.2-001	KNOWN	basic	lincRNA	ENSG00000221617	Clone_based_ensembl_gene	lincRNA	OTTHUMT00000407315.1	G			93491070	+1	no_errors	ENST00000408690	ensembl	human	novel	70_37	rna	SNP	0.009	A
IQCC	55721	genome.wustl.edu	37	1	32671248	32671248	+	5'Flank	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:32671248C>T	ENST00000291358.6	+	0	0				RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA|IQCC_ENST00000537469.1_5'UTR	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C											endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGACGTACTTCGCAGGCGCGC	0.697																																																	0													10.0	13.0	12.0					1																	32671248		2186	4280	6466	SO:0001631	upstream_gene_variant	0			AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739		1.37:g.32671248C>T	Exception_encountered		F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	RNA	SNP	-	NULL	ENST00000291358.6	37	NULL	CCDS355.1	1																																																																																			RP4-622L5.7	-	-		0.697	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000224066	Clone_based_vega_gene	protein_coding	OTTHUMT00000015731.3	C	NM_018134		32671248	-1	no_errors	ENST00000421616	ensembl	human	known	70_37	rna	SNP	0.856	T
LOC101927648	101927648	genome.wustl.edu	37	1	143403499	143403499	+	lincRNA	SNP	A	A	C	rs201058279		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:143403499A>C	ENST00000423249.1	-	0	59																											AACATGTGGCAGAAGGGAAGA	0.488																																																	0																																												0																															1.37:g.143403499A>C				RNA	SNP	-	NULL	ENST00000423249.1	37	NULL		1																																																																																			BX004987.5	-	-		0.488	RP11-435B5.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	ENSG00000238261	Clone_based_vega_gene	lincRNA	OTTHUMT00000037552.1	A			143403499	+1	no_errors	ENST00000433980	ensembl	human	known	70_37	rna	SNP	1.000	C
STX6	10228	genome.wustl.edu	37	1	180945579	180945579	+	3'UTR	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:180945579G>A	ENST00000258301.5	-	0	1132				AL162431.1_ENST00000457152.2_Intron|STX6_ENST00000542060.1_3'UTR|STX6_ENST00000469135.1_5'UTR|RP11-46A10.5_ENST00000358073.2_RNA	NM_005819.4	NP_005810.1	O43752	STX6_HUMAN	syntaxin 6						endosome organization (GO:0007032)|Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|trans-Golgi network membrane (GO:0032588)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						GTCACACGGAGAAAAGTCAGT	0.542																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ002078	CCDS1341.1, CCDS65738.1	1q25.3	2008-02-05			ENSG00000135823	ENSG00000135823			11441	protein-coding gene	gene with protein product		603944				10080545	Standard	XM_005244824		Approved		uc021pfr.1	O43752	OTTHUMG00000035179	ENST00000258301.5:c.*127C>T	1.37:g.180945579G>A			B2R652|B4DR17|Q5VY08|Q6FH83	RNA	SNP	-	NULL	ENST00000258301.5	37	NULL	CCDS1341.1	1																																																																																			RP11-46A10.5	-	-		0.542	STX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000243155	Clone_based_vega_gene	protein_coding	OTTHUMT00000085143.1	G	NM_005819		180945579	-1	no_errors	ENST00000358073	ensembl	human	known	70_37	rna	SNP	0.068	A
STXBP1	6812	genome.wustl.edu	37	9	130455518	130455518	+	IGR	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:130455518G>A	ENST00000373299.1	+	0	3759				MIR3911_ENST00000577791.1_RNA|STXBP1_ENST00000481942.1_Intron	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1						axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						ctcagcctTAGAATGCTTTTC	0.488																																																	0																																										SO:0001628	intergenic_variant	0			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713		9.37:g.130455518G>A			B1AM97|Q28208|Q62759|Q64320|Q96TG8	RNA	SNP	-	NULL	ENST00000373299.1	37	NULL	CCDS35146.1	9																																																																																			RP11-56D16.2	-	-		0.488	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000248666	Clone_based_vega_gene	protein_coding	OTTHUMT00000054229.1	G	NM_003165		130455518	-1	no_errors	ENST00000335223	ensembl	human	known	70_37	rna	SNP	0.001	A
AKAP13	11214	genome.wustl.edu	37	15	86287919	86287919	+	3'UTR	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr15:86287919C>T	ENST00000394518.2	+	0	8548				AKAP13_ENST00000361243.2_3'UTR|AKAP13_ENST00000394510.2_3'UTR|RP11-158M2.3_ENST00000558375.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CCCTCTTCCTCTCTGCTGAGG	0.537																																					Melanoma(94;603 1453 3280 32295 32951)												0													91.0	90.0	90.0					15																	86287919		2202	4299	6501	SO:0001624	3_prime_UTR_variant	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.*11C>T	15.37:g.86287919C>T			Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	RNA	SNP	-	NULL	ENST00000394518.2	37	NULL	CCDS32319.1	15																																																																																			RP11-158M2.3	-	-		0.537	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000259407	Clone_based_vega_gene	protein_coding	OTTHUMT00000417318.1	C	NM_007200		86287919	-1	no_errors	ENST00000558375	ensembl	human	known	70_37	rna	SNP	0.000	T
AKAP13	11214	genome.wustl.edu	37	15	86287921	86287921	+	3'UTR	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr15:86287921C>T	ENST00000394518.2	+	0	8550				AKAP13_ENST00000361243.2_3'UTR|AKAP13_ENST00000394510.2_3'UTR|RP11-158M2.3_ENST00000558375.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTCTTCCTCTCTGCTGAGGCA	0.547																																					Melanoma(94;603 1453 3280 32295 32951)												0													87.0	86.0	86.0					15																	86287921		2202	4299	6501	SO:0001624	3_prime_UTR_variant	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.*13C>T	15.37:g.86287921C>T			Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	RNA	SNP	-	NULL	ENST00000394518.2	37	NULL	CCDS32319.1	15																																																																																			RP11-158M2.3	-	-		0.547	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000259407	Clone_based_vega_gene	protein_coding	OTTHUMT00000417318.1	C	NM_007200		86287921	-1	no_errors	ENST00000558375	ensembl	human	known	70_37	rna	SNP	0.006	T
CNP	1267	genome.wustl.edu	37	17	40127388	40127388	+	3'UTR	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:40127388C>T	ENST00000393892.3	+	0	2856					NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase						adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		AGGCTGGCCTCAGACTCATAC	0.602																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.*1446C>T	17.37:g.40127388C>T				RNA	SNP	-	NULL	ENST00000393892.3	37	NULL	CCDS11414.2	17																																																																																			RP11-229E13.2	-	-		0.602	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267548	Clone_based_vega_gene	protein_coding	OTTHUMT00000257443.2	C			40127388	+1	no_errors	ENST00000590979	ensembl	human	known	70_37	rna	SNP	0.169	T
NFE2L1	4779	genome.wustl.edu	37	17	46137781	46137781	+	3'UTR	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:46137781C>T	ENST00000362042.3	+	0	3713				RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000361665.3_3'UTR|NFE2L1_ENST00000357480.5_3'UTR|NFE2L1_ENST00000585291.1_3'UTR	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1						anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCATGTCATTCACTGCCTTGC	0.562																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.*778C>T	17.37:g.46137781C>T			D3DTU3|D3DTU5|Q12877|Q96FN6	RNA	SNP	-	NULL	ENST00000362042.3	37	NULL	CCDS11524.1	17																																																																																			RP5-890E16.4	-	-		0.562	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000266341	Clone_based_vega_gene	protein_coding	OTTHUMT00000443019.1	C	NM_003204		46137781	-1	no_errors	ENST00000583349	ensembl	human	known	70_37	rna	SNP	0.996	T
EPB42	2038	genome.wustl.edu	37	15	43498771	43498771	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr15:43498771C>T	ENST00000441366.2	-	10	1600	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K	EPB42_ENST00000300215.3_Missense_Mutation_p.E489K|EPB42_ENST00000540029.1_Missense_Mutation_p.E381K|EPB42_ENST00000563128.1_5'Flank	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	459					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TTGTCTTTCTCACGTTCCATT	0.537																																																	0													168.0	156.0	160.0					15																	43498771		2203	4299	6502	SO:0001583	missense	2038			M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.1375G>A	15.37:g.43498771C>T	ENSP00000396616:p.Glu459Lys		Q4KKX0|Q4VB97	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.E489K	ENST00000441366.2	37	c.1465	CCDS45249.1	15	.	.	.	.	.	.	.	.	.	.	C	0.108	-1.142576	0.01728	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	T;T;T	0.79033	-1.19;-1.23;-1.2	5.31	-2.77	0.05877	.	1.391060	0.04001	N	0.296510	T	0.51719	0.1691	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.42865	-0.9426	10	0.08381	T	0.77	-0.3329	3.8364	0.08896	0.2604:0.3517:0.0:0.388	.	381;459;489;459	F5H563;B7Z4C3;P16452-2;P16452	.;.;.;EPB42_HUMAN	K	489;381;459;387	ENSP00000300215:E489K;ENSP00000444699:E381K;ENSP00000396616:E459K	ENSP00000300215:E489K	E	-	1	0	EPB42	41286063	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.761000	0.04751	-0.328000	0.08539	0.655000	0.94253	GAG	EPB42	-	NULL		0.537	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB42	HGNC	protein_coding	OTTHUMT00000432219.1	C	NM_000119		43498771	-1	no_errors	ENST00000300215	ensembl	human	known	70_37	missense	SNP	0.000	T
EQTN	54586	genome.wustl.edu	37	9	27294471	27294471	+	Intron	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:27294471G>C	ENST00000380032.3	-	3	286				EQTN_ENST00000537675.1_Intron|EQTN_ENST00000484994.1_5'UTR|EQTN_ENST00000380031.1_Intron	NM_020641.2	NP_065692.2	Q9NQ60	EQTN_HUMAN	equatorin, sperm acrosome associated						acrosomal vesicle exocytosis (GO:0060478)|endocytosis (GO:0006897)|fusion of sperm to egg plasma membrane (GO:0007342)	early endosome (GO:0005769)|inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|outer acrosomal membrane (GO:0002081)|plasma membrane (GO:0005886)											TTCTTCCTCTGAGTTTTTTTC	0.294																																																	0																																										SO:0001627	intron_variant	54586			AJ278482	CCDS35001.1, CCDS55300.1	9p21	2012-09-20	2012-09-20	2012-09-20	ENSG00000120160	ENSG00000120160			1359	protein-coding gene	gene with protein product	"""Acr formation associated factor"", ""Acrosome formation associated factor"", ""sperm acrosome associated 8"""		"""chromosome 9 open reading frame 11"", ""equatorin"""	C9orf11			Standard	NM_020641		Approved	AFAF, SPACA8, equatorin	uc003zql.3	Q9NQ60	OTTHUMG00000021033	ENST00000380032.3:c.203-71C>G	9.37:g.27294471G>C			B2RPB3|B7ZMK1|Q5TCU1|Q96L22	RNA	SNP	-	NULL	ENST00000380032.3	37	NULL	CCDS35001.1	9																																																																																			EQTN	-	-		0.294	EQTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EQTN	HGNC	protein_coding	OTTHUMT00000055499.1	G	NM_020641		27294471	-1	no_errors	ENST00000484994	ensembl	human	known	70_37	rna	SNP	0.001	C
ERCC6L	54821	genome.wustl.edu	37	X	71425620	71425620	+	Silent	SNP	G	G	A	rs371897834		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:71425620G>A	ENST00000334463.3	-	2	3132	c.2997C>T	c.(2995-2997)ctC>ctT	p.L999L	ERCC6L_ENST00000373657.1_Silent_p.L876L|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	999					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ACTCCCAACTGAGACATGTTT	0.398																																																	0								G	,	1,3834		0,1,1631,571	120.0	110.0	113.0		,2997	2.9	0.0	X		113	0,6728		0,0,2428,1872	no	intron,coding-synonymous	PIN4,ERCC6L	NM_001170747.1,NM_017669.2	,	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	,	,999/1251	71425620	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	54821			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.2997C>T	X.37:g.71425620G>A			Q8NCI1|Q96H93|Q9NXQ8	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L999	ENST00000334463.3	37	c.2997	CCDS35329.1	X																																																																																			ERCC6L	-	NULL		0.398	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6L	HGNC	protein_coding	OTTHUMT00000057174.2	G	NM_017669		71425620	-1	no_errors	ENST00000334463	ensembl	human	known	70_37	silent	SNP	0.015	A
ESPL1	9700	genome.wustl.edu	37	12	53670603	53670603	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:53670603C>G	ENST00000257934.4	+	8	1991	c.1900C>G	c.(1900-1902)Cag>Gag	p.Q634E	ESPL1_ENST00000552462.1_Missense_Mutation_p.Q634E	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	634					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						AGAACTGGCTCAGGTGCTCTG	0.597																																					Colon(53;1069 1201 2587 5382)												0													61.0	66.0	64.0					12																	53670603		2202	4300	6502	SO:0001583	missense	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.1900C>G	12.37:g.53670603C>G	ENSP00000257934:p.Gln634Glu			Missense_Mutation	SNP	pfam_Peptidase_C50	p.Q634E	ENST00000257934.4	37	c.1900	CCDS8852.1	12	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589412	0.86851	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.13196	2.61;2.61	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.39937	0.1097	M	0.76002	2.32	0.53005	D	0.999969	D	0.69078	0.997	D	0.78314	0.991	T	0.14008	-1.0488	10	0.87932	D	0	.	18.0608	0.89377	0.0:1.0:0.0:0.0	.	634	Q14674	ESPL1_HUMAN	E	634;309;634	ENSP00000257934:Q634E;ENSP00000449831:Q634E	ENSP00000257934:Q634E	Q	+	1	0	ESPL1	51956870	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.323000	0.59221	2.803000	0.96430	0.650000	0.86243	CAG	ESPL1	-	NULL		0.597	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	C	NM_012291		53670603	+1	no_errors	ENST00000257934	ensembl	human	known	70_37	missense	SNP	1.000	G
ETHE1	23474	genome.wustl.edu	37	19	44012175	44012175	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:44012175C>T	ENST00000292147.2	-	6	699	c.633G>A	c.(631-633)ctG>ctA	p.L211L	ETHE1_ENST00000600651.1_Silent_p.L211L	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	211					cellular nitrogen compound metabolic process (GO:0034641)|glutathione metabolic process (GO:0006749)|hydrogen sulfide metabolic process (GO:0070813)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|sulfur dioxygenase activity (GO:0050313)			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				GCCGAGGGTTCAGAGTCCTCT	0.562																																																	0													78.0	62.0	68.0					19																	44012175		2203	4300	6503	SO:0001819	synonymous_variant	23474				CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	1.13.11.18		23287	protein-coding gene	gene with protein product		608451				19136963	Standard	NM_014297		Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000292147.2:c.633G>A	19.37:g.44012175C>T			Q96HR0|Q9H001	Silent	SNP	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.L211	ENST00000292147.2	37	c.633	CCDS12622.1	19																																																																																			ETHE1	-	NULL		0.562	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETHE1	HGNC	protein_coding	OTTHUMT00000463184.1	C	NM_014297		44012175	-1	no_errors	ENST00000292147	ensembl	human	known	70_37	silent	SNP	1.000	T
ETFB	2109	genome.wustl.edu	37	19	51857782	51857782	+	Intron	SNP	A	A	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:51857782A>G	ENST00000309244.4	-	2	149				CTD-2616J11.9_ENST00000600974.1_RNA|ETFB_ENST00000354232.4_Silent_p.G37G|CTD-2616J11.11_ENST00000600067.1_Intron	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide						cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		ATTCCTGGGTACCAGGGACAT	0.512																																																	0													90.0	85.0	87.0					19																	51857782		2203	4300	6503	SO:0001627	intron_variant	2109			X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.58-220T>C	19.37:g.51857782A>G			A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	Silent	SNP	pfam_ETF_a/b_N,smart_ETF_a/b_N	p.G37	ENST00000309244.4	37	c.111	CCDS12828.1	19																																																																																			ETFB	-	NULL		0.512	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETFB	HGNC	protein_coding	OTTHUMT00000464273.1	A			51857782	-1	no_errors	ENST00000354232	ensembl	human	known	70_37	silent	SNP	0.035	G
EZH1	2145	genome.wustl.edu	37	17	40879686	40879686	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:40879686C>T	ENST00000428826.2	-	4	334	c.213G>A	c.(211-213)atG>atA	p.M71I	EZH1_ENST00000585893.1_Missense_Mutation_p.M71I|EZH1_ENST00000415827.2_Missense_Mutation_p.M71I|EZH1_ENST00000435174.1_Missense_Mutation_p.E13K|EZH1_ENST00000592743.1_Missense_Mutation_p.M71I|EZH1_ENST00000590078.1_Start_Codon_SNP_p.M1I			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	71					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TCACAGGCTTCATTGACTGAA	0.413																																																	0													95.0	97.0	96.0					17																	40879686		2203	4300	6503	SO:0001583	missense	2145				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.213G>A	17.37:g.40879686C>T	ENSP00000404658:p.Met71Ile		A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.M71I	ENST00000428826.2	37	c.213	CCDS32659.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.152417|5.152417	0.94645|0.94645	.|.	.|.	ENSG00000108799|ENSG00000108799	ENST00000435174|ENST00000264646;ENST00000428826;ENST00000415827	D|D;D	0.93366|0.85955	-3.21|-1.92;-2.05	4.59|4.59	4.59|4.59	0.56863|0.56863	.|.	.|0.126509	.|0.64402	.|D	.|0.000001	T|T	0.81312|0.81312	0.4796|0.4796	L|L	0.43923|0.43923	1.385|1.385	0.34639|0.34639	D|D	0.720496|0.720496	P|B;B;B	0.46784|0.28605	0.884|0.004;0.217;0.138	B|B;B;B	0.39660|0.31946	0.306|0.022;0.138;0.065	T|T	0.81649|0.81649	-0.0837|-0.0837	9|10	0.49607|0.21014	T|T	0.09|0.42	.|.	17.5467|17.5467	0.87864|0.87864	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	13|71;77;71	Q92800-5|Q92800-3;Q92800-2;Q92800	.|.;.;EZH1_HUMAN	K|I	13|74;71;71	ENSP00000404071:E13K|ENSP00000404658:M71I;ENSP00000407869:M71I	ENSP00000404071:E13K|ENSP00000264646:M74I	E|M	-|-	1|3	0|0	EZH1|EZH1	38133212|38133212	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.891000|0.891000	0.51852|0.51852	4.944000|4.944000	0.63561|0.63561	2.539000|2.539000	0.85634|0.85634	0.557000|0.557000	0.71058|0.71058	GAA|ATG	EZH1	-	NULL		0.413	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EZH1	HGNC	protein_coding	OTTHUMT00000452347.1	C	NM_001991		40879686	-1	no_errors	ENST00000428826	ensembl	human	known	70_37	missense	SNP	1.000	T
FAM160B2	64760	genome.wustl.edu	37	8	21958132	21958132	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:21958132G>A	ENST00000289921.7	+	11	1415	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	457										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CCGGCTGTTTGAGGAGCTGCT	0.647																																																	0													38.0	44.0	42.0					8																	21958132		2011	4183	6194	SO:0001583	missense	64760			AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"""retinoic acid induced 16"""	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.1369G>A	8.37:g.21958132G>A	ENSP00000289921:p.Glu457Lys		B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.E457K	ENST00000289921.7	37	c.1369	CCDS6021.2	8	.	.	.	.	.	.	.	.	.	.	.	35	5.414429	0.96092	.	.	ENSG00000158863	ENST00000289921	T	0.33865	1.39	5.8	5.8	0.92144	.	0.051419	0.85682	D	0.000000	T	0.63355	0.2504	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.65817	-0.6076	10	0.87932	D	0	-27.944	17.5547	0.87887	0.0:0.0:1.0:0.0	.	457	Q86V87	F16B2_HUMAN	K	457	ENSP00000289921:E457K	ENSP00000289921:E457K	E	+	1	0	FAM160B2	22014077	1.000000	0.71417	0.996000	0.52242	0.642000	0.38348	9.492000	0.97957	2.755000	0.94549	0.655000	0.94253	GAG	FAM160B2	-	pfam_RetinoicA-induced_16-like		0.647	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160B2	HGNC	protein_coding	OTTHUMT00000375334.2	G			21958132	+1	no_errors	ENST00000289921	ensembl	human	known	70_37	missense	SNP	1.000	A
FAM110B	90362	genome.wustl.edu	37	8	59059031	59059031	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:59059031C>T	ENST00000361488.3	+	5	1122	c.242C>T	c.(241-243)gCc>gTc	p.A81V	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	81						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GCCGTGCTGGCCAAGCCCCCG	0.682																																																	0													28.0	35.0	33.0					8																	59059031		2201	4299	6500	SO:0001583	missense	90362			U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.242C>T	8.37:g.59059031C>T	ENSP00000355204:p.Ala81Val		Q5BM08|Q9Y4K2	Missense_Mutation	SNP	NULL	p.A81V	ENST00000361488.3	37	c.242	CCDS6170.1	8	.	.	.	.	.	.	.	.	.	.	C	15.72	2.916770	0.52546	.	.	ENSG00000169122	ENST00000361488	T	0.46063	0.88	5.4	5.4	0.78164	.	0.117281	0.64402	D	0.000018	T	0.38852	0.1056	L	0.44542	1.39	0.58432	D	0.999998	B	0.11235	0.004	B	0.10450	0.005	T	0.14062	-1.0486	9	.	.	.	-32.726	19.1515	0.93491	0.0:1.0:0.0:0.0	.	81	Q8TC76	F110B_HUMAN	V	81	ENSP00000355204:A81V	.	A	+	2	0	FAM110B	59221585	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.728000	0.68531	2.527000	0.85204	0.462000	0.41574	GCC	FAM110B	-	NULL		0.682	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM110B	HGNC	protein_coding	OTTHUMT00000378095.2	C	NM_147189		59059031	+1	no_errors	ENST00000361488	ensembl	human	known	70_37	missense	SNP	0.999	T
FAM184B	27146	genome.wustl.edu	37	4	17782845	17782845	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:17782845C>G	ENST00000265018.3	-	1	290	c.78G>C	c.(76-78)tgG>tgC	p.W26C		NM_015688.1	NP_056503.1	Q9ULE4	F184B_HUMAN	family with sequence similarity 184, member B	26										NS(1)|central_nervous_system(1)|endometrium(1)|prostate(1)	4						AGTCCATTCTCCAGCCGGCGC	0.612																																																	0													57.0	55.0	56.0					4																	17782845		692	1591	2283	SO:0001583	missense	27146				CCDS47033.1	4p16	2009-04-22			ENSG00000047662	ENSG00000047662			29235	protein-coding gene	gene with protein product						10574462	Standard	NM_015688		Approved	KIAA1276	uc003gpm.4	Q9ULE4	OTTHUMG00000160287	ENST00000265018.3:c.78G>C	4.37:g.17782845C>G	ENSP00000265018:p.Trp26Cys			Missense_Mutation	SNP	NULL	p.W26C	ENST00000265018.3	37	c.78	CCDS47033.1	4	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613446	0.46631	.	.	ENSG00000047662	ENST00000265018	T	0.30182	1.54	4.3	4.3	0.51218	.	0.394052	0.21362	N	0.075800	T	0.37839	0.1018	N	0.22421	0.69	0.53688	D	0.999976	D	0.62365	0.991	D	0.66497	0.944	T	0.15838	-1.0423	10	0.51188	T	0.08	-7.2947	12.1596	0.54098	0.0:1.0:0.0:0.0	.	26	Q9ULE4	F184B_HUMAN	C	26	ENSP00000265018:W26C	ENSP00000265018:W26C	W	-	3	0	FAM184B	17391943	1.000000	0.71417	1.000000	0.80357	0.518000	0.34316	2.588000	0.46137	2.221000	0.72209	0.655000	0.94253	TGG	FAM184B	-	NULL		0.612	FAM184B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184B	HGNC	protein_coding	OTTHUMT00000360137.1	C	NM_015688		17782845	-1	no_errors	ENST00000265018	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM200A	221786	genome.wustl.edu	37	7	99145492	99145492	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:99145492G>A	ENST00000449309.1	-	2	918	c.539C>T	c.(538-540)tCa>tTa	p.S180L		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	180						integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						agttatatgtgaatttaaatt	0.318																																																	0													30.0	31.0	30.0					7																	99145492		1557	2704	4261	SO:0001583	missense	221786				CCDS5668.1	7q22.1	2010-02-22	2010-02-22	2010-02-22	ENSG00000221909	ENSG00000221909			25401	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 38"""	C7orf38		10607616	Standard	NM_145111		Approved	FLJ36794, DKFZp727G131	uc003ura.3	Q8TCP9	OTTHUMG00000156723	ENST00000449309.1:c.539C>T	7.37:g.99145492G>A	ENSP00000411372:p.Ser180Leu		A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	Missense_Mutation	SNP	superfamily_RNaseH-like_dom	p.S180L	ENST00000449309.1	37	c.539	CCDS5668.1	7	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673654	0.47781	.	.	ENSG00000221909	ENST00000449309;ENST00000408938	T;T	0.23754	1.89;1.89	2.47	2.47	0.30058	Ribonuclease H-like (1);	0.744226	0.11437	N	0.564258	T	0.22820	0.0551	L	0.50333	1.59	0.09310	N	1	B	0.29188	0.236	B	0.30401	0.115	T	0.13791	-1.0496	10	0.27785	T	0.31	.	8.5603	0.33507	0.0:0.0:1.0:0.0	.	180	Q8TCP9	F200A_HUMAN	L	180	ENSP00000411372:S180L;ENSP00000386191:S180L	ENSP00000386191:S180L	S	-	2	0	FAM200A	98983428	0.978000	0.34361	0.068000	0.19968	0.910000	0.53928	2.286000	0.43496	1.681000	0.50988	0.655000	0.94253	TCA	FAM200A	-	superfamily_RNaseH-like_dom		0.318	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM200A	HGNC	protein_coding	OTTHUMT00000345467.1	G	NM_145111		99145492	-1	no_errors	ENST00000449309	ensembl	human	known	70_37	missense	SNP	0.122	A
FAM208B	54906	genome.wustl.edu	37	10	5788653	5788653	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:5788653C>G	ENST00000328090.5	+	15	3894	c.3269C>G	c.(3268-3270)gCa>gGa	p.A1090G	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1090																	TCACCTGCTGCAAGCCTTAGA	0.443																																																	0													117.0	110.0	112.0					10																	5788653		1989	4177	6166	SO:0001583	missense	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3269C>G	10.37:g.5788653C>G	ENSP00000328426:p.Ala1090Gly		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.A1090G	ENST00000328090.5	37	c.3269	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	C	5.199	0.222188	0.09863	.	.	ENSG00000108021	ENST00000328090	T	0.04551	3.6	5.55	-0.491	0.12045	.	1.732790	0.02739	N	0.116070	T	0.04907	0.0132	L	0.40543	1.245	0.09310	N	1	B	0.33413	0.411	B	0.31946	0.138	T	0.34825	-0.9813	10	0.42905	T	0.14	.	2.5806	0.04817	0.1375:0.5038:0.1219:0.2368	.	1090	Q5VWN6	F208B_HUMAN	G	1090	ENSP00000328426:A1090G	ENSP00000328426:A1090G	A	+	2	0	C10orf18	5828659	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.125000	0.10579	0.016000	0.14998	0.655000	0.94253	GCA	FAM208B	-	pfam_DUF3699		0.443	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	C	NM_017782		5788653	+1	no_errors	ENST00000328090	ensembl	human	known	70_37	missense	SNP	0.000	G
FAM208B	54906	genome.wustl.edu	37	10	5791870	5791870	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:5791870C>T	ENST00000328090.5	+	15	7111	c.6486C>T	c.(6484-6486)atC>atT	p.I2162I		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2162																	AAGACATAATCATAGACGTGT	0.423																																																	0													62.0	58.0	59.0					10																	5791870		1924	4144	6068	SO:0001819	synonymous_variant	54906			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.6486C>T	10.37:g.5791870C>T			Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	pfam_DUF3715,pfam_DUF3699	p.I2162	ENST00000328090.5	37	c.6486	CCDS41485.1	10																																																																																			FAM208B	-	NULL		0.423	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	C	NM_017782		5791870	+1	no_errors	ENST00000328090	ensembl	human	known	70_37	silent	SNP	0.931	T
UBA7	7318	genome.wustl.edu	37	3	49841843	49841843	+	IGR	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:49841843C>G	ENST00000333486.3	-	0	3299				MIR5193_ENST00000584510.1_RNA|FAM212A_ENST00000333323.4_Missense_Mutation_p.S96C	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7						cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GACTGGGACTCTGGCTTCTCG	0.627																																																	0													80.0	78.0	78.0					3																	49841843		2203	4300	6503	SO:0001628	intergenic_variant	389119			BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267		3.37:g.49841843C>G			Q9BRB2	Missense_Mutation	SNP	NULL	p.S96C	ENST00000333486.3	37	c.287	CCDS2805.1	3	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507398	0.85282	.	.	ENSG00000185614	ENST00000333323	.	.	.	5.2	5.2	0.72013	.	0.000000	0.45126	D	0.000399	T	0.79581	0.4470	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82157	-0.0596	9	0.87932	D	0	.	17.5243	0.87795	0.0:1.0:0.0:0.0	.	94	Q96EL1	CC054_HUMAN	C	96	.	ENSP00000329735:S96C	S	+	2	0	C3orf54	49816847	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	4.051000	0.57412	2.430000	0.82344	0.561000	0.74099	TCT	FAM212A	-	NULL		0.627	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM212A	HGNC	protein_coding	OTTHUMT00000350503.1	C	NM_003335		49841843	+1	no_errors	ENST00000333323	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM227A	646851	genome.wustl.edu	37	22	39032460	39032460	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr22:39032460C>T	ENST00000535113.1	-	6	1118	c.515G>A	c.(514-516)gGc>gAc	p.G172D	FAM227A_ENST00000355830.6_Missense_Mutation_p.G166D|FAM227A_ENST00000540952.1_5'UTR|FAM227A_ENST00000406767.2_Missense_Mutation_p.G166D	NM_001013647.1	NP_001013669.1	F5H4B4	F227A_HUMAN	family with sequence similarity 227, member A	172																	CCTCACCTTGCCACTAAGGCA	0.552																																																	0													82.0	70.0	74.0					22																	39032460		692	1591	2283	SO:0001583	missense	646851					22q13.1	2012-07-04			ENSG00000184949	ENSG00000184949			44197	protein-coding gene	gene with protein product							Standard	NM_001013647		Approved		uc011anw.1	F5H4B4	OTTHUMG00000151133	ENST00000535113.1:c.515G>A	22.37:g.39032460C>T	ENSP00000445093:p.Gly172Asp		B0QY52|B7Z7C6|Q5TG08	Missense_Mutation	SNP	superfamily_Staphylocoagulase_N	p.G166D	ENST00000535113.1	37	c.497		22	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958439	0.53400	.	.	ENSG00000184949	ENST00000535113;ENST00000355830;ENST00000406767;ENST00000466655	.	.	.	5.39	4.37	0.52481	.	0.200368	0.35555	N	0.003139	T	0.68531	0.3011	L	0.54323	1.7	0.37114	D	0.900482	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73043	-0.4107	9	0.52906	T	0.07	-16.156	9.7331	0.40372	0.0:0.9051:0.0:0.0949	.	166;172	Q5TG08;F5H4B4	YV009_HUMAN;.	D	172;166;166;79	.	ENSP00000348086:G166D	G	-	2	0	RP1-199H16.5	37362406	0.999000	0.42202	0.978000	0.43139	0.178000	0.23041	2.296000	0.43584	1.261000	0.44149	0.462000	0.41574	GGC	FAM227A	-	NULL		0.552	FAM227A-202	KNOWN	basic|appris_principal	protein_coding	FAM227A	HGNC	protein_coding		C	NM_001013647		39032460	-1	no_errors	ENST00000406767	ensembl	human	known	70_37	missense	SNP	0.996	T
FAM47B	170062	genome.wustl.edu	37	X	34961357	34961357	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:34961357C>A	ENST00000329357.5	+	1	445	c.409C>A	c.(409-411)Ctg>Atg	p.L137M		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	137										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTACCCCAATCTGGGAAAAGA	0.567																																																	0													92.0	81.0	85.0					X																	34961357		2202	4300	6502	SO:0001583	missense	170062			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.409C>A	X.37:g.34961357C>A	ENSP00000328307:p.Leu137Met		Q5JQN5|Q6PIG3	Missense_Mutation	SNP	NULL	p.L137M	ENST00000329357.5	37	c.409	CCDS14236.1	X	.	.	.	.	.	.	.	.	.	.	C	11.18	1.563895	0.27915	.	.	ENSG00000189132	ENST00000329357	T	0.22539	1.95	0.843	0.843	0.18935	.	.	.	.	.	T	0.41305	0.1153	M	0.81802	2.56	0.09310	N	1	D	0.67145	0.996	D	0.65010	0.931	T	0.11966	-1.0566	9	0.72032	D	0.01	.	7.2872	0.26346	0.0:0.9999:0.0:1.0E-4	.	137	Q8NA70	FA47B_HUMAN	M	137	ENSP00000328307:L137M	ENSP00000328307:L137M	L	+	1	2	FAM47B	34871278	0.410000	0.25376	0.008000	0.14137	0.032000	0.12392	-0.014000	0.12656	0.695000	0.31675	0.292000	0.19580	CTG	FAM47B	-	NULL		0.567	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47B	HGNC	protein_coding	OTTHUMT00000056211.1	C	NM_152631		34961357	+1	no_errors	ENST00000329357	ensembl	human	known	70_37	missense	SNP	0.087	A
FAS	355	genome.wustl.edu	37	10	90774013	90774013	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:90774013G>C	ENST00000355740.2	+	9	1034	c.814G>C	c.(814-816)Gaa>Caa	p.E272Q	FAS_ENST00000355279.2_3'UTR|FAS_ENST00000352159.4_3'UTR|RP11-399O19.9_ENST00000562983.1_RNA|FAS_ENST00000357339.2_Missense_Mutation_p.E251Q	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	AGACACAGCAGAACAGAAAGT	0.368																																																	0			GRCh37	CM994524	FAS	M							126.0	117.0	120.0					10																	90774013		2203	4300	6503	SO:0001583	missense	355			M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11920	protein-coding gene	gene with protein product	"""TNF receptor superfamily member 6"""	134637	"""tumor necrosis factor receptor superfamily, member 6"", ""Fas (TNF receptor superfamily, member 6)"""	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355740.2:c.814G>C	10.37:g.90774013G>C	ENSP00000347979:p.Glu272Gln		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt	p.E272Q	ENST00000355740.2	37	c.814	CCDS7393.1	10	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488717	0.44249	.	.	ENSG00000026103	ENST00000540197;ENST00000355740;ENST00000357339	D;D	0.96073	-3.9;-3.9	4.65	4.65	0.58169	Death (3);DEATH-like (2);	.	.	.	.	D	0.97526	0.9190	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97817	1.0254	9	0.72032	D	0.01	-39.7131	13.767	0.63002	0.0:0.0:1.0:0.0	.	251;272	P25445-6;P25445	.;TNR6_HUMAN	Q	299;272;251	ENSP00000347979:E272Q;ENSP00000349896:E251Q	ENSP00000347979:E272Q	E	+	1	0	FAS	90763993	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	4.738000	0.62073	2.523000	0.85059	0.650000	0.86243	GAA	FAS	-	pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death		0.368	FAS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAS	HGNC	protein_coding	OTTHUMT00000049274.3	G			90774013	+1	no_errors	ENST00000355740	ensembl	human	known	70_37	missense	SNP	1.000	C
FAT1	2195	genome.wustl.edu	37	4	187628227	187628227	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:187628227C>T	ENST00000441802.2	-	2	2964	c.2755G>A	c.(2755-2757)Gat>Aat	p.D919N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	919	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCATTAACATCTTCTAGTGAT	0.468										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													218.0	213.0	214.0					4																	187628227		1958	4160	6118	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2755G>A	4.37:g.187628227C>T	ENSP00000406229:p.Asp919Asn			Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.D919N	ENST00000441802.2	37	c.2755	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866544	0.91511	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.67698	-0.28	4.67	4.67	0.58626	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.85733	0.5765	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89148	0.3521	10	0.87932	D	0	.	18.1062	0.89520	0.0:1.0:0.0:0.0	.	919	Q14517	FAT1_HUMAN	N	919	ENSP00000406229:D919N	ENSP00000260147:D919N	D	-	1	0	FAT1	187865221	1.000000	0.71417	0.998000	0.56505	0.925000	0.55904	7.609000	0.82925	2.579000	0.87056	0.491000	0.48974	GAT	FAT1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.468	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	C	NM_005245		187628227	-1	no_errors	ENST00000441802	ensembl	human	known	70_37	missense	SNP	1.000	T
FBXL19	54620	genome.wustl.edu	37	16	30934378	30934378	+	5'Flank	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:30934378C>G	ENST00000380310.2	+	0	0				FBXL19-AS1_ENST00000563777.1_RNA|FBXL19_ENST00000471231.2_5'Flank|FBXL19_ENST00000338343.4_5'Flank|FBXL19_ENST00000562319.1_5'Flank|FBXL19_ENST00000565690.1_5'Flank	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19						proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CTTCCGCCATCTTGCTTGTAG	0.498																																																	0																																										SO:0001631	upstream_gene_variant	283932			AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"""F-boxes / Leucine-rich repeats"""	25300	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1C"""	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403		16.37:g.30934378C>G	Exception_encountered		A8MT10|Q8N789|Q9NT14	RNA	SNP	-	NULL	ENST00000380310.2	37	NULL	CCDS45465.1	16																																																																																			FBXL19-AS1	-	-		0.498	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL19-AS1	HGNC	protein_coding		C	NM_019085		30934378	-1	no_errors	ENST00000563777	ensembl	human	known	70_37	rna	SNP	1.000	G
FBXO15	201456	genome.wustl.edu	37	18	71807467	71807467	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr18:71807467G>A	ENST00000419743.2	-	2	276	c.197C>T	c.(196-198)tCt>tTt	p.S66F	FBXO15_ENST00000269500.5_5'UTR	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	66						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GCAGGAGAAAGAGCTCTCCCA	0.527																																																	0													48.0	47.0	47.0					18																	71807467		692	1591	2283	SO:0001583	missense	201456			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.197C>T	18.37:g.71807467G>A	ENSP00000393154:p.Ser66Phe		B3KST3	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.S66F	ENST00000419743.2	37	c.197	CCDS45884.1	18	.	.	.	.	.	.	.	.	.	.	G	9.778	1.174528	0.21704	.	.	ENSG00000141665	ENST00000419743	T	0.51071	0.72	4.63	2.82	0.32997	.	.	.	.	.	T	0.37265	0.0997	L	0.39898	1.24	0.20074	N	0.999933	B	0.02656	0.0	B	0.04013	0.001	T	0.29305	-1.0016	9	0.52906	T	0.07	.	7.7953	0.29143	0.1993:0.0:0.8007:0.0	.	66	B3KST3	.	F	66	ENSP00000393154:S66F	ENSP00000393154:S66F	S	-	2	0	FBXO15	69958447	0.003000	0.15002	0.002000	0.10522	0.001000	0.01503	0.689000	0.25437	0.495000	0.27882	-0.145000	0.13849	TCT	FBXO15	-	NULL		0.527	FBXO15-002	KNOWN	basic|CCDS	protein_coding	FBXO15	HGNC	protein_coding	OTTHUMT00000444223.1	G	NM_152676		71807467	-1	no_errors	ENST00000419743	ensembl	human	known	70_37	missense	SNP	0.004	A
FCHSD2	9873	genome.wustl.edu	37	11	72553785	72553785	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:72553785C>T	ENST00000409418.4	-	17	2190	c.1807G>A	c.(1807-1809)Gat>Aat	p.D603N	FCHSD2_ENST00000409314.1_Missense_Mutation_p.D627N|FCHSD2_ENST00000311172.7_Missense_Mutation_p.D547N|FCHSD2_ENST00000458644.2_Missense_Mutation_p.D467N|FCHSD2_ENST00000409263.1_Intron|ATG16L2_ENST00000534905.1_3'UTR	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	603	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.									endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CCATCATCATCTTGGTTTTCT	0.428																																																	0													141.0	136.0	138.0					11																	72553785		2200	4293	6493	SO:0001583	missense	9873			AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.1807G>A	11.37:g.72553785C>T	ENSP00000386722:p.Asp603Asn		B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Missense_Mutation	SNP	pfam_SH3_domain,pfam_FCH,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain	p.D603N	ENST00000409418.4	37	c.1807	CCDS8218.2	11	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812017	0.50527	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000458644	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	6.03	6.03	0.97812	Src homology-3 domain (4);	0.425959	0.27371	N	0.019673	T	0.52933	0.1765	L	0.49126	1.545	0.80722	D	1	B;P	0.38677	0.372;0.642	B;B	0.43225	0.138;0.412	T	0.52185	-0.8609	10	0.62326	D	0.03	-24.2196	19.5548	0.95338	0.0:1.0:0.0:0.0	.	467;603	E7ENZ2;O94868	.;FCSD2_HUMAN	N	547;627;603;467	ENSP00000308978:D547N;ENSP00000386987:D627N;ENSP00000386722:D603N;ENSP00000402972:D467N	ENSP00000308978:D547N	D	-	1	0	FCHSD2	72231433	1.000000	0.71417	0.978000	0.43139	0.830000	0.47004	5.699000	0.68310	2.854000	0.98071	0.655000	0.94253	GAT	FCHSD2	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.428	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD2	HGNC	protein_coding	OTTHUMT00000329429.2	C	NM_014824		72553785	-1	no_errors	ENST00000409418	ensembl	human	known	70_37	missense	SNP	1.000	T
FGFR1	2260	genome.wustl.edu	37	8	38271462	38271462	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:38271462G>A	ENST00000447712.2	-	17	3207	c.2266C>T	c.(2266-2268)Cgc>Tgc	p.R756C	FGFR1_ENST00000326324.6_Missense_Mutation_p.R665C|FGFR1_ENST00000425967.3_Missense_Mutation_p.R787C|FGFR1_ENST00000341462.5_Missense_Mutation_p.R756C|FGFR1_ENST00000335922.5_Missense_Mutation_p.R746C|FGFR1_ENST00000397091.5_Missense_Mutation_p.R754C|FGFR1_ENST00000397113.2_Missense_Mutation_p.R754C|FGFR1_ENST00000397103.1_Missense_Mutation_p.R667C|FGFR1_ENST00000532791.1_Missense_Mutation_p.R754C|FGFR1_ENST00000356207.5_Missense_Mutation_p.R667C|FGFR1_ENST00000397108.4_Missense_Mutation_p.R754C	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	756	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GCCACGATGCGGTCCAGGTCT	0.632		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)			Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	0													53.0	60.0	58.0					8																	38271462		2203	4300	6503	SO:0001583	missense	2260			M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.2266C>T	8.37:g.38271462G>A	ENSP00000400162:p.Arg756Cys		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R787C	ENST00000447712.2	37	c.2359	CCDS6107.2	8	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242709	0.79912	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	T;T;T;T;T;T;T;T;T;T;T	0.80304	-1.33;-1.35;-1.36;-1.35;-1.36;-1.33;-1.35;-1.36;-1.32;-1.33;-1.33	5.36	5.36	0.76844	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87728	0.6250	M	0.62209	1.925	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.997;0.999;0.999	D	0.88615	0.3159	10	0.87932	D	0	.	13.8987	0.63790	0.0:0.0:0.8097:0.1903	.	665;665;756;746;754	P11362-14;P11362-4;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	C	754;787;756;756;754;754;667;746;665;667;754	ENSP00000380280:R754C;ENSP00000393312:R787C;ENSP00000400162:R756C;ENSP00000340636:R756C;ENSP00000432972:R754C;ENSP00000380302:R754C;ENSP00000348537:R667C;ENSP00000337247:R746C;ENSP00000327229:R665C;ENSP00000380292:R667C;ENSP00000380297:R754C	ENSP00000327229:R665C	R	-	1	0	FGFR1	38390619	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.392000	0.59659	2.508000	0.84585	0.655000	0.94253	CGC	FGFR1	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom		0.632	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGFR1	HGNC	protein_coding		G			38271462	-1	no_errors	ENST00000425967	ensembl	human	known	70_37	missense	SNP	1.000	A
FHAD1	114827	genome.wustl.edu	37	1	15651040	15651040	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:15651040G>C	ENST00000375998.4	+	10	1458	c.1458G>C	c.(1456-1458)gaG>gaC	p.E486D	FHAD1_ENST00000401090.2_Intron|RP3-467K16.2_ENST00000428747.1_RNA|FHAD1_ENST00000417793.1_Missense_Mutation_p.E486D|FHAD1_ENST00000375999.3_Missense_Mutation_p.E486D|FHAD1_ENST00000375995.3_Intron|FHAD1_ENST00000358897.4_Missense_Mutation_p.E486D			B1AJZ9	FHAD1_HUMAN	forkhead-associated (FHA) phosphopeptide binding domain 1	486										skin(1)|stomach(1)	2						TCAATTTGGAGAGGGCAGTAG	0.517											OREG0013127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													84.0	89.0	87.0					1																	15651040		692	1591	2283	SO:0001583	missense	114827			AK093300		1p36.21	2012-04-19			ENSG00000142621	ENSG00000142621			29408	protein-coding gene	gene with protein product						11572484	Standard	NM_052929		Approved	KIAA1937	uc001awb.2	B1AJZ9	OTTHUMG00000002088	ENST00000375998.4:c.1458G>C	1.37:g.15651040G>C	ENSP00000365166:p.Glu486Asp	704	Q0P6F5|Q8N8D3|Q8N9T6|Q8NA05	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.E486D	ENST00000375998.4	37	c.1458		1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644222	0.29246	.	.	ENSG00000142621	ENST00000358897;ENST00000417793;ENST00000375999;ENST00000375998	D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99	5.46	-0.00586	0.14015	.	0.194664	0.35708	N	0.003026	T	0.69486	0.3116	N	0.16656	0.425	0.80722	D	1	B	0.32467	0.372	B	0.36186	0.219	T	0.54470	-0.8289	10	0.29301	T	0.29	-14.7595	5.0801	0.14651	0.5141:0.167:0.319:0.0	.	486	B1AJZ9	FHAD1_HUMAN	D	486	ENSP00000351770:E486D;ENSP00000407615:E486D;ENSP00000365167:E486D;ENSP00000365166:E486D	ENSP00000351770:E486D	E	+	3	2	FHAD1	15523627	0.982000	0.34865	1.000000	0.80357	0.993000	0.82548	-0.003000	0.12901	0.074000	0.16767	-0.302000	0.09304	GAG	FHAD1	-	NULL		0.517	FHAD1-026	PUTATIVE	basic|appris_candidate_longest	protein_coding	FHAD1	HGNC	protein_coding	OTTHUMT00000393400.2	G	NM_052929		15651040	+1	no_errors	ENST00000375999	ensembl	human	known	70_37	missense	SNP	0.995	C
FMNL1	752	genome.wustl.edu	37	17	43319240	43319240	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:43319240C>T	ENST00000331495.3	+	15	1948	c.1612C>T	c.(1612-1614)Ccc>Tcc	p.P538S	FMNL1_ENST00000587489.1_Missense_Mutation_p.P116S|FMNL1_ENST00000328118.3_Missense_Mutation_p.P538S|CTD-2020K17.3_ENST00000587534.1_RNA|CTD-2020K17.3_ENST00000393507.2_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	538	Pro-rich.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						AGAGCCGGCTCCCGGAGCAGc	0.766																																					GBM(164;1247 1997 8702 11086 51972)												0													1.0	1.0	1.0					17																	43319240		1061	2214	3275	SO:0001583	missense	752			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.1612C>T	17.37:g.43319240C>T	ENSP00000329219:p.Pro538Ser		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.P538S	ENST00000331495.3	37	c.1612	CCDS11497.1	17	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879617	0.33162	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.81247	-1.46;-1.47	2.91	0.439	0.16567	.	1.672590	0.04363	U	0.357797	T	0.68091	0.2963	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48958	-0.8988	10	0.14252	T	0.57	.	6.4724	0.22015	0.1999:0.6034:0.1967:0.0	.	538	O95466	FMNL_HUMAN	S	538;538;256	ENSP00000327442:P538S;ENSP00000329219:P538S	ENSP00000327442:P538S	P	+	1	0	FMNL1	40675023	0.001000	0.12720	0.003000	0.11579	0.188000	0.23474	0.978000	0.29488	0.497000	0.27926	0.205000	0.17691	CCC	FMNL1	-	NULL		0.766	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL1	HGNC	protein_coding	OTTHUMT00000450198.1	C	NM_005892		43319240	+1	no_errors	ENST00000328118	ensembl	human	known	70_37	missense	SNP	0.000	T
FNDC3B	64778	genome.wustl.edu	37	3	172052800	172052800	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:172052800G>C	ENST00000336824.4	+	15	1807	c.1708G>C	c.(1708-1710)Gac>Cac	p.D570H	FNDC3B_ENST00000415807.2_Missense_Mutation_p.D570H|FNDC3B_ENST00000416957.1_Missense_Mutation_p.D570H	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	570	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GACGAGTCCTGACAGGCCTGG	0.463																																																	0													212.0	203.0	206.0					3																	172052800		2203	4300	6503	SO:0001583	missense	64778			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1708G>C	3.37:g.172052800G>C	ENSP00000338523:p.Asp570His		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.D570H	ENST00000336824.4	37	c.1708	CCDS3217.1	3	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019163	0.93462	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.58940	0.3;0.3;0.3	6.16	6.16	0.99307	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.041082	0.85682	D	0.000000	D	0.82664	0.5086	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.964	D	0.84781	0.0773	10	0.87932	D	0	-32.0685	20.8598	0.99761	0.0:0.0:1.0:0.0	.	570;570	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	H	570	ENSP00000411242:D570H;ENSP00000338523:D570H;ENSP00000389094:D570H	ENSP00000338523:D570H	D	+	1	0	FNDC3B	173535494	1.000000	0.71417	0.993000	0.49108	0.933000	0.57130	9.023000	0.93683	2.937000	0.99478	0.650000	0.86243	GAC	FNDC3B	-	superfamily_Fibronectin_type3		0.463	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3B	HGNC	protein_coding	OTTHUMT00000345618.2	G	NM_022763		172052800	+1	no_errors	ENST00000336824	ensembl	human	known	70_37	missense	SNP	1.000	C
FREM2	341640	genome.wustl.edu	37	13	39263924	39263924	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr13:39263924C>T	ENST00000280481.7	+	1	2659	c.2443C>T	c.(2443-2445)Cca>Tca	p.P815S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	815					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAATGTGGCTCCAGGTACCTT	0.547																																																	0													80.0	82.0	81.0					13																	39263924		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2443C>T	13.37:g.39263924C>T	ENSP00000280481:p.Pro815Ser		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.P815S	ENST00000280481.7	37	c.2443	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	C	8.151	0.787377	0.16258	.	.	ENSG00000150893	ENST00000280481	T	0.25749	1.78	5.8	3.08	0.35506	.	0.287283	0.36134	N	0.002763	T	0.11196	0.0273	N	0.17764	0.52	0.29632	N	0.845342	B	0.06786	0.001	B	0.09377	0.004	T	0.21143	-1.0254	10	0.10377	T	0.69	.	2.3831	0.04359	0.1291:0.2986:0.3717:0.2006	.	815	Q5SZK8	FREM2_HUMAN	S	815	ENSP00000280481:P815S	ENSP00000280481:P815S	P	+	1	0	FREM2	38161924	0.003000	0.15002	1.000000	0.80357	0.992000	0.81027	0.444000	0.21661	0.761000	0.33130	0.655000	0.94253	CCA	FREM2	-	NULL		0.547	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	C	NM_207361		39263924	+1	no_errors	ENST00000280481	ensembl	human	known	70_37	missense	SNP	0.965	T
FRMPD1	22844	genome.wustl.edu	37	9	37746462	37746462	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:37746462G>A	ENST00000539465.1	+	16	5026	c.4433G>A	c.(4432-4434)aGa>aAa	p.R1478K	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.R1478K			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1478						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CATGTGATCAGAATGGACCAG	0.607																																																	0													30.0	33.0	32.0					9																	37746462		2203	4300	6503	SO:0001583	missense	22844			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.4433G>A	9.37:g.37746462G>A	ENSP00000444411:p.Arg1478Lys		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.R1478K	ENST00000539465.1	37	c.4433	CCDS6612.1	9	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276458	0.23307	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.06768	3.26;3.26	5.53	3.34	0.38264	.	0.218491	0.47852	N	0.000212	T	0.03608	0.0103	N	0.11201	0.11	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35525	-0.9785	10	0.08381	T	0.77	-11.9701	7.385	0.26878	0.2761:0.0:0.7239:0.0	.	1478	Q5SYB0	FRPD1_HUMAN	K	1478	ENSP00000366995:R1478K;ENSP00000444411:R1478K	ENSP00000366995:R1478K	R	+	2	0	FRMPD1	37736462	0.989000	0.36119	0.998000	0.56505	0.915000	0.54546	3.014000	0.49590	1.245000	0.43885	-0.345000	0.07892	AGA	FRMPD1	-	NULL		0.607	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FRMPD1	HGNC	protein_coding	OTTHUMT00000402969.1	G	NM_014907		37746462	+1	no_errors	ENST00000377765	ensembl	human	known	70_37	missense	SNP	0.998	A
FSCN2	25794	genome.wustl.edu	37	17	79495605	79495605	+	Silent	SNP	C	C	T	rs199668780	byFrequency	TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:79495605C>T	ENST00000417245.2	+	1	184	c.48C>T	c.(46-48)ctC>ctT	p.L16L	RP13-766D20.2_ENST00000442532.1_RNA|FSCN2_ENST00000334850.7_Silent_p.L16L|RP13-766D20.2_ENST00000430912.1_RNA	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	16					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			AGTTTGGCCTCGTCAACGACA	0.632													c|||	5	0.000998403	0.0008	0.0	5008	,	,		16441	0.0		0.002	False		,,,				2504	0.002																0									,	2,4160		0,2,2079	25.0	27.0	27.0		48,48	-10.3	0.0	17		27	14,8390		0,14,4188	no	coding-synonymous,coding-synonymous	FSCN2	NM_001077182.2,NM_012418.3	,	0,16,6267	TT,TC,CC		0.1666,0.0481,0.1273	,	16/517,16/493	79495605	16,12550	2081	4202	6283	SO:0001819	synonymous_variant	25794			AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"""Fascins"""	3960	protein-coding gene	gene with protein product		607643	"""fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)"", ""fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"""			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.48C>T	17.37:g.79495605C>T			A0AVC4|A8MRA6	Silent	SNP	pfam_Fascin-domain,superfamily_Actin_cross-linking	p.L16	ENST00000417245.2	37	c.48	CCDS45811.1	17																																																																																			FSCN2	-	superfamily_Actin_cross-linking		0.632	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCN2	HGNC	protein_coding	OTTHUMT00000394746.1	C	NM_012418		79495605	+1	no_errors	ENST00000334850	ensembl	human	known	70_37	silent	SNP	0.001	T
FUBP1	8880	genome.wustl.edu	37	1	78444657	78444657	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:78444657G>A	ENST00000370768.2	-	1	113	c.32C>T	c.(31-33)tCt>tTt	p.S11F	FUBP1_ENST00000370767.1_Missense_Mutation_p.S11F|FUBP1_ENST00000436586.2_Missense_Mutation_p.S11F	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	11					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGAGCCAGAAGAGGGGGGAGG	0.562			"""F, N"""		oligodendroglioma																																			Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	0													37.0	42.0	40.0					1																	78444657		2203	4300	6503	SO:0001583	missense	8880			U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.32C>T	1.37:g.78444657G>A	ENSP00000359804:p.Ser11Phe		Q12828	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1	p.S11F	ENST00000370768.2	37	c.32	CCDS683.1	1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150519	0.57151	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586;ENST00000421641	T;T;T;T	0.52983	1.4;1.38;1.35;0.64	5.23	5.23	0.72850	.	0.307687	0.36101	N	0.002791	T	0.32941	0.0846	L	0.40543	1.245	0.18873	N	0.999989	D;P	0.62365	0.991;0.834	P;B	0.47744	0.556;0.4	T	0.19063	-1.0317	10	0.66056	D	0.02	-6.6769	13.6824	0.62493	0.0:0.0:0.8453:0.1547	.	11;11	B4DT31;Q96AE4	.;FUBP1_HUMAN	F	11	ENSP00000359803:S11F;ENSP00000359804:S11F;ENSP00000389536:S11F;ENSP00000402630:S11F	ENSP00000294623:S11F	S	-	2	0	FUBP1	78217245	0.967000	0.33354	0.453000	0.27007	0.920000	0.55202	4.968000	0.63728	2.599000	0.87857	0.561000	0.74099	TCT	FUBP1	-	NULL		0.562	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP1	HGNC	protein_coding	OTTHUMT00000098030.3	G	NM_003902		78444657	-1	no_errors	ENST00000436586	ensembl	human	known	70_37	missense	SNP	0.117	A
FUT5	2527	genome.wustl.edu	37	19	5867440	5867440	+	Silent	SNP	G	G	A	rs373593937		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:5867440G>A	ENST00000588525.1	-	2	384	c.297C>T	c.(295-297)ccC>ccT	p.P99P	FUT5_ENST00000252675.5_Silent_p.P99P	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	99					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						CGGCCGCGCCGGGCACCATCT	0.627																																																	0								G		0,4406		0,0,2203	55.0	54.0	54.0		297	-4.2	0.0	19		54	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	FUT5	NM_002034.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		99/375	5867440	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2527				CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"""Fucosyltransferases"""	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.297C>T	19.37:g.5867440G>A			A8K4X2	Silent	SNP	pfam_Glyco_trans_10	p.P99	ENST00000588525.1	37	c.297	CCDS12154.1	19																																																																																			FUT5	-	pfam_Glyco_trans_10		0.627	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT5	HGNC	protein_coding	OTTHUMT00000452213.1	G	NM_002034		5867440	-1	no_errors	ENST00000252675	ensembl	human	known	70_37	silent	SNP	0.000	A
FYCO1	79443	genome.wustl.edu	37	3	46003742	46003742	+	Missense_Mutation	SNP	C	C	T	rs138239824		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:46003742C>T	ENST00000296137.2	-	11	3617	c.3412G>A	c.(3412-3414)Gag>Aag	p.E1138K	FYCO1_ENST00000535325.1_Missense_Mutation_p.E1138K	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1138					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)	p.E1138*(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		AGCCGCTCCTCGAGATACTTC	0.493																																																	1	Substitution - Nonsense(1)	breast(1)						C	LYS/GLU	0,4406		0,0,2203	217.0	210.0	212.0		3412	5.9	1.0	3	dbSNP_134	212	1,8599	1.2+/-3.3	0,1,4299	no	missense	FYCO1	NM_024513.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1138/1479	46003742	1,13005	2203	4300	6503	SO:0001583	missense	79443			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3412G>A	3.37:g.46003742C>T	ENSP00000296137:p.Glu1138Lys		B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel	p.E1138K	ENST00000296137.2	37	c.3412	CCDS2734.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.218014	0.95104	0.0	1.16E-4	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.23950	1.89;1.88	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.51295	0.1666	M	0.68952	2.095	0.49130	D	0.999759	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.35276	-0.9795	10	0.41790	T	0.15	-33.7838	18.479	0.90804	0.0:1.0:0.0:0.0	.	1138;1138	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	K	1138	ENSP00000296137:E1138K;ENSP00000441178:E1138K	ENSP00000296137:E1138K	E	-	1	0	FYCO1	45978746	1.000000	0.71417	0.997000	0.53966	0.919000	0.55068	5.628000	0.67791	2.793000	0.96121	0.655000	0.94253	GAG	FYCO1	-	NULL		0.493	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FYCO1	HGNC	protein_coding	OTTHUMT00000257320.2	C	NM_024513		46003742	-1	no_errors	ENST00000535325	ensembl	human	known	70_37	missense	SNP	0.999	T
GABBR1	2550	genome.wustl.edu	37	6	29596956	29596956	+	Intron	SNP	C	C	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:29596956C>A	ENST00000377034.4	-	5	811				GABBR1_ENST00000355973.3_5'Flank|GABBR1_ENST00000377016.4_Intron|GABBR1_ENST00000376977.3_Intron|GABBR1_ENST00000377012.4_5'Flank	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TGATCCCCAGCCCCCTCCCAC	0.607																																																	0																																										SO:0001627	intron_variant	2550			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.476-72G>T	6.37:g.29596956C>A			B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.A182S	ENST00000377034.4	37	c.544	CCDS4663.1	6																																																																																			GABBR1	-	NULL		0.607	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR1	HGNC	protein_coding	OTTHUMT00000076141.3	C			29596956	-1	no_errors	ENST00000489385	ensembl	human	known	70_37	missense	SNP	1.000	A
GBP2	2634	genome.wustl.edu	37	1	89583317	89583317	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:89583317C>G	ENST00000370466.3	-	5	836	c.568G>C	c.(568-570)Gat>Cat	p.D190H	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	190	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		GGTTCTCCATCTACTTCCAGT	0.443																																																	0													107.0	104.0	105.0					1																	89583317		2203	4300	6503	SO:0001583	missense	2634			BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.568G>C	1.37:g.89583317C>G	ENSP00000359497:p.Asp190His		Q6GPH0|Q6IAU2|Q86TB0	Missense_Mutation	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C	p.D190H	ENST00000370466.3	37	c.568	CCDS719.1	1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534368	0.45073	.	.	ENSG00000162645	ENST00000370466	T	0.62498	0.02	3.91	-7.17	0.01511	Guanylate-binding protein, N-terminal (1);	0.850130	0.09976	U	0.731684	T	0.63117	0.2484	M	0.91140	3.18	0.09310	N	1	D	0.57571	0.98	P	0.58820	0.846	T	0.66089	-0.6010	10	0.72032	D	0.01	-1.3022	8.2709	0.31844	0.0:0.3143:0.1105:0.5751	.	190	P32456	GBP2_HUMAN	H	190	ENSP00000359497:D190H	ENSP00000359497:D190H	D	-	1	0	GBP2	89355905	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.064000	0.01387	-1.807000	0.01236	0.655000	0.94253	GAT	GBP2	-	pfam_Guanylate-bd_N		0.443	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GBP2	HGNC	protein_coding	OTTHUMT00000029406.2	C	NM_004120		89583317	-1	no_errors	ENST00000370466	ensembl	human	known	70_37	missense	SNP	0.000	G
GFOD2	81577	genome.wustl.edu	37	16	67719417	67719417	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:67719417G>C	ENST00000268797.7	-	2	547	c.202C>G	c.(202-204)Ctg>Gtg	p.L68V	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	68					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		ATGCACACCAGATCCACATCT	0.587																																																	0													97.0	77.0	83.0					16																	67719417		2198	4300	6498	SO:0001583	missense	81577			AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.202C>G	16.37:g.67719417G>C	ENSP00000268797:p.Leu68Val		Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	pfam_Oxidoreductase_N	p.L68V	ENST00000268797.7	37	c.202	CCDS10845.1	16	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074584	0.76415	.	.	ENSG00000141098	ENST00000268797	T	0.20881	2.04	5.58	4.63	0.57726	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000001	T	0.27765	0.0683	L	0.37750	1.13	0.58432	D	0.999994	P	0.50617	0.937	P	0.61722	0.893	T	0.05550	-1.0878	10	0.11794	T	0.64	-15.7008	9.9468	0.41613	0.1549:0.0:0.8451:0.0	.	68	Q3B7J2	GFOD2_HUMAN	V	68	ENSP00000268797:L68V	ENSP00000268797:L68V	L	-	1	2	GFOD2	66276918	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.070000	0.57548	1.353000	0.45828	0.561000	0.74099	CTG	GFOD2	-	pfam_Oxidoreductase_N		0.587	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFOD2	HGNC	protein_coding	OTTHUMT00000268868.2	G	NM_030819		67719417	-1	no_errors	ENST00000268797	ensembl	human	known	70_37	missense	SNP	1.000	C
GIN1	54826	genome.wustl.edu	37	5	102423568	102423568	+	3'UTR	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:102423568C>T	ENST00000399004.2	-	0	1697				GIN1_ENST00000508629.1_3'UTR	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1						DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		AATTTATATTCTAAACAAACA	0.259																																																	0													11.0	10.0	10.0					5																	102423568		1740	3995	5735	SO:0001624	3_prime_UTR_variant	54826			BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"""gypsy integrase 1"", ""Ty3/Gypsy integrase 1"""		"""zinc finger, H2C2 domain containing"""	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.*34G>A	5.37:g.102423568C>T			B2RXF7|B4DIV4|Q6AI03|Q96BR2	RNA	SNP	-	NULL	ENST00000399004.2	37	NULL	CCDS43349.1	5																																																																																			GIN1	-	-		0.259	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIN1	HGNC	protein_coding	OTTHUMT00000370478.3	C	NM_017676		102423568	-1	no_errors	ENST00000507478	ensembl	human	known	70_37	rna	SNP	0.115	T
GLOD4	51031	genome.wustl.edu	37	17	685469	685469	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:685469G>A	ENST00000301328.5	-	1	50	c.27C>T	c.(25-27)ttC>ttT	p.F9F	GLOD4_ENST00000536578.1_5'UTR|GLOD4_ENST00000301329.6_Silent_p.F9F|RNMTL1_ENST00000304478.4_5'Flank			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	9						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CTTTGAATACGAAGTGCAGAG	0.672																																																	0													29.0	32.0	31.0					17																	685469		2203	4299	6502	SO:0001819	synonymous_variant	51031			AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.27C>T	17.37:g.685469G>A			D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Silent	SNP	NULL	p.F9	ENST00000301328.5	37	c.27		17																																																																																			GLOD4	-	NULL		0.672	GLOD4-005	KNOWN	basic	protein_coding	GLOD4	HGNC	protein_coding	OTTHUMT00000437190.1	G	NM_016080		685469	-1	no_errors	ENST00000301328	ensembl	human	known	70_37	silent	SNP	1.000	A
GNA13	10672	genome.wustl.edu	37	17	63052540	63052540	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:63052540C>T	ENST00000439174.2	-	1	417	c.172G>A	c.(172-174)Gag>Aag	p.E58K	GNA13_ENST00000541118.1_5'Flank	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	58					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						TTGCCGCTCTCGCCCGCGCCC	0.617																																																	0													103.0	100.0	101.0					17																	63052540		2203	4300	6503	SO:0001583	missense	10672			L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.172G>A	17.37:g.63052540C>T	ENSP00000400717:p.Glu58Lys		B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha12	p.E58K	ENST00000439174.2	37	c.172	CCDS11661.1	17	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597550	0.66332	.	.	ENSG00000120063	ENST00000439174;ENST00000239138	D	0.82711	-1.64	3.67	2.68	0.31781	G protein alpha subunit, helical insertion (1);	0.138711	0.47455	U	0.000223	D	0.93805	0.8019	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93475	0.6822	10	0.87932	D	0	.	10.5062	0.44834	0.0:0.8992:0.0:0.1008	.	58	Q14344	GNA13_HUMAN	K	58	ENSP00000400717:E58K	ENSP00000239138:E58K	E	-	1	0	GNA13	60483002	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	5.373000	0.66162	0.510000	0.28216	0.462000	0.41574	GAG	GNA13	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su		0.617	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA13	HGNC	protein_coding	OTTHUMT00000445720.1	C	NM_006572		63052540	-1	no_errors	ENST00000439174	ensembl	human	known	70_37	missense	SNP	1.000	T
GNMT	27232	genome.wustl.edu	37	6	42930548	42930548	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:42930548C>T	ENST00000372808.3	+	3	393	c.383C>T	c.(382-384)tCa>tTa	p.S128L		NM_018960.4	NP_061833.1	Q14749	GNMT_HUMAN	glycine N-methyltransferase	128					cellular protein modification process (GO:0006464)|glycogen metabolic process (GO:0005977)|methionine metabolic process (GO:0006555)|one-carbon metabolic process (GO:0006730)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|S-adenosylmethionine metabolic process (GO:0046500)	cytoplasm (GO:0005737)	folic acid binding (GO:0005542)|glycine binding (GO:0016594)|glycine N-methyltransferase activity (GO:0017174)			kidney(2)|large_intestine(1)|lung(1)	4	Colorectal(47;0.196)		all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	GTGCCCCAGTCAGCAGAGGGT	0.542																																																	0													225.0	209.0	215.0					6																	42930548		2203	4300	6503	SO:0001583	missense	27232			AF101475	CCDS4876.1	6p12	2008-02-05			ENSG00000124713	ENSG00000124713			4415	protein-coding gene	gene with protein product		606628				10843803, 9495250	Standard	NM_018960		Approved		uc003otd.3	Q14749	OTTHUMG00000014712	ENST00000372808.3:c.383C>T	6.37:g.42930548C>T	ENSP00000361894:p.Ser128Leu		Q5T8W2|Q9NNZ1|Q9NS24	Missense_Mutation	SNP	pfam_Methyltransf_12,pfam_Methyltransf_11,pirsf_Gly/Sar_N_MeTrfase	p.S128L	ENST00000372808.3	37	c.383	CCDS4876.1	6	.	.	.	.	.	.	.	.	.	.	C	9.649	1.141089	0.21205	.	.	ENSG00000124713	ENST00000372808	T	0.62232	0.04	5.56	4.68	0.58851	.	0.600408	0.15000	N	0.286177	T	0.09642	0.0237	N	0.00360	-1.595	0.28797	N	0.89899	B	0.02656	0.0	B	0.01281	0.0	T	0.25047	-1.0143	10	0.15066	T	0.55	0.0041	10.8252	0.46627	0.0:0.9112:0.0:0.0888	.	128	Q14749	GNMT_HUMAN	L	128	ENSP00000361894:S128L	ENSP00000361894:S128L	S	+	2	0	GNMT	43038526	0.883000	0.30277	0.080000	0.20451	0.904000	0.53231	4.405000	0.59741	1.310000	0.45006	0.561000	0.74099	TCA	GNMT	-	pfam_Methyltransf_12,pfam_Methyltransf_11,pirsf_Gly/Sar_N_MeTrfase		0.542	GNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNMT	HGNC	protein_coding	OTTHUMT00000040568.1	C	NM_018960		42930548	+1	no_errors	ENST00000372808	ensembl	human	known	70_37	missense	SNP	0.992	T
GPR141	353345	genome.wustl.edu	37	7	37780111	37780111	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:37780111T>C	ENST00000447769.1	+	4	405	c.116T>C	c.(115-117)cTt>cCt	p.L39P	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.L39P			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATTTCCATTCTTTTCCTCCTG	0.502																																																	0													107.0	110.0	109.0					7																	37780111		2203	4300	6503	SO:0001583	missense	353345			AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.116T>C	7.37:g.37780111T>C	ENSP00000390410:p.Leu39Pro		A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L39P	ENST00000447769.1	37	c.116	CCDS5451.1	7	.	.	.	.	.	.	.	.	.	.	T	17.29	3.352415	0.61293	.	.	ENSG00000187037	ENST00000450180;ENST00000447769;ENST00000334425	T;T;T	0.50001	0.76;0.76;0.76	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.207572	0.41500	D	0.000867	T	0.62196	0.2408	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.65520	-0.6148	10	0.87932	D	0	-11.3642	9.4669	0.38817	0.0:0.0842:0.0:0.9158	.	39	Q7Z602	GP141_HUMAN	P	39	ENSP00000396300:L39P;ENSP00000390410:L39P;ENSP00000334540:L39P	ENSP00000334540:L39P	L	+	2	0	GPR141	37746636	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.014000	0.49590	2.082000	0.62665	0.528000	0.53228	CTT	GPR141	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.502	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR141	HGNC	protein_coding	OTTHUMT00000219943.2	T	NM_181791		37780111	+1	no_errors	ENST00000334425	ensembl	human	known	70_37	missense	SNP	1.000	C
GPR152	390212	genome.wustl.edu	37	11	67219209	67219209	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:67219209C>T	ENST00000312457.2	-	1	991	c.987G>A	c.(985-987)gaG>gaA	p.E329E	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	329						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GGGTCTGTGGCTCAGTGGGCG	0.657																																					Pancreas(102;800 1581 2723 7382 33622)												0													45.0	43.0	44.0					11																	67219209		2200	4294	6494	SO:0001819	synonymous_variant	390212			AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"""GPCR / Class A : Orphans"""	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.987G>A	11.37:g.67219209C>T			Q0VD88|Q86SM0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.E329	ENST00000312457.2	37	c.987	CCDS8165.1	11																																																																																			GPR152	-	NULL		0.657	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR152	HGNC	protein_coding	OTTHUMT00000397623.1	C			67219209	-1	no_errors	ENST00000312457	ensembl	human	known	70_37	silent	SNP	0.001	T
GPR65	8477	genome.wustl.edu	37	14	88477990	88477990	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:88477990C>T	ENST00000267549.3	+	2	1357	c.799C>T	c.(799-801)Cga>Tga	p.R267*	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	267					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TTCTGGGAAGCGAACTTACAC	0.383																																																	0													109.0	100.0	103.0					14																	88477990		2203	4300	6503	SO:0001587	stop_gained	8477			U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.799C>T	14.37:g.88477990C>T	ENSP00000267549:p.Arg267*		O75819	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Psych_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.R267*	ENST00000267549.3	37	c.799	CCDS9879.1	14	.	.	.	.	.	.	.	.	.	.	C	38	7.136119	0.98088	.	.	ENSG00000140030	ENST00000267549	.	.	.	5.98	5.09	0.68999	.	1.059260	0.07408	N	0.891842	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	7.2413	0.26098	0.1284:0.6814:0.1239:0.0663	.	.	.	.	X	267	.	ENSP00000267549:R267X	R	+	1	2	GPR65	87547743	0.000000	0.05858	0.415000	0.26534	0.510000	0.34073	0.247000	0.18179	1.515000	0.48885	-0.188000	0.12872	CGA	GPR65	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Psych_rcpt		0.383	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR65	HGNC	protein_coding	OTTHUMT00000071564.4	C			88477990	+1	no_errors	ENST00000267549	ensembl	human	known	70_37	nonsense	SNP	0.387	T
GPR98	84059	genome.wustl.edu	37	5	89923139	89923139	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:89923139C>T	ENST00000405460.2	+	7	880	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	262	Calx-beta 3. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAATGATAGTCCCGTGAGATT	0.363																																																	0													84.0	83.0	84.0					5																	89923139		1852	4081	5933	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.784C>T	5.37:g.89923139C>T	ENSP00000384582:p.Pro262Ser		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.P262S	ENST00000405460.2	37	c.784	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876272	0.91664	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.30714	1.52	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.63367	0.2505	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67082	-0.5760	10	0.72032	D	0.01	.	20.0349	0.97554	0.0:1.0:0.0:0.0	.	262	Q8WXG9	GPR98_HUMAN	S	262	ENSP00000384582:P262S	ENSP00000296619:P262S	P	+	1	0	GPR98	89958895	1.000000	0.71417	0.970000	0.41538	0.980000	0.70556	7.526000	0.81920	2.744000	0.94065	0.650000	0.86243	CCC	GPR98	-	NULL		0.363	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	C	NM_032119		89923139	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	T
GREB1L	80000	genome.wustl.edu	37	18	19076584	19076584	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr18:19076584G>A	ENST00000580732.2	+	21	3697	c.3316G>A	c.(3316-3318)Gag>Aag	p.E1106K	GREB1L_ENST00000424526.1_Missense_Mutation_p.E1106K|GREB1L_ENST00000269218.6_Missense_Mutation_p.E997K|GREB1L_ENST00000400483.4_3'UTR			Q9C091	GRB1L_HUMAN	growth regulation by estrogen in breast cancer-like	1106						integral component of membrane (GO:0016021)				breast(5)|endometrium(4)|kidney(6)|lung(1)|skin(1)	17						TGCTGTCAGTGAGAATGACTC	0.577																																																	0													74.0	78.0	77.0					18																	19076584		692	1591	2283	SO:0001583	missense	80000			AK023749	CCDS45836.1	18q11.2	2009-09-08	2009-09-08	2009-09-08					31042	protein-coding gene	gene with protein product			"""KIAA1772"""	KIAA1772		11214970	Standard	NM_001142966		Approved	FLJ13687, C18orf6	uc010xam.2	Q9C091		ENST00000580732.2:c.3316G>A	18.37:g.19076584G>A	ENSP00000464162:p.Glu1106Lys		A4QN17|Q9H8F1	Missense_Mutation	SNP	NULL	p.E1106K	ENST00000580732.2	37	c.3316	CCDS45836.1	18	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274405	0.59649	.	.	ENSG00000141449	ENST00000424526;ENST00000269218	T;T	0.06849	3.25;3.25	5.59	5.59	0.84812	.	0.379636	0.25222	N	0.032232	T	0.15132	0.0365	L	0.52573	1.65	0.80722	D	1	P;P;P	0.51933	0.949;0.867;0.933	P;B;P	0.45881	0.496;0.288;0.461	T	0.00341	-1.1804	10	0.66056	D	0.02	-2.2674	19.592	0.95518	0.0:0.0:1.0:0.0	.	997;1106;480	Q9C091-3;Q9C091;B4DDS9	.;GRB1L_HUMAN;.	K	1106;997	ENSP00000412060:E1106K;ENSP00000269218:E997K	ENSP00000269218:E997K	E	+	1	0	GREB1L	17330582	0.999000	0.42202	0.770000	0.31555	0.270000	0.26580	3.291000	0.51764	2.620000	0.88729	0.609000	0.83330	GAG	GREB1L	-	NULL		0.577	GREB1L-003	KNOWN	not_organism_supported|upstream_uORF|basic|appris_principal|CCDS	protein_coding	GREB1L	HGNC	protein_coding	OTTHUMT00000443782.2	G	NM_024935		19076584	+1	no_errors	ENST00000424526	ensembl	human	known	70_37	missense	SNP	0.920	A
GRIP2	80852	genome.wustl.edu	37	3	14548435	14548435	+	RNA	SNP	C	C	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:14548435C>A	ENST00000273083.3	-	0	2336							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GCTGGGTCCTCATCAGCATCA	0.622																																																	0													25.0	29.0	28.0					3																	14548435		2028	4177	6205			80852			AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14548435C>A			Q8TEH9|Q9H7H3	RNA	SNP	-	NULL	ENST00000273083.3	37	NULL		3																																																																																			GRIP2	-	-		0.622	GRIP2-001	KNOWN	basic	processed_transcript	GRIP2	HGNC	processed_transcript	OTTHUMT00000340582.2	C	NM_001080423		14548435	-1	no_errors	ENST00000273083	ensembl	human	known	70_37	rna	SNP	1.000	A
GRM3	2913	genome.wustl.edu	37	7	86479761	86479761	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:86479761G>A	ENST00000361669.2	+	5	3566	c.2467G>A	c.(2467-2469)Gtt>Att	p.V823I	GRM3_ENST00000439827.1_Missense_Mutation_p.G467D|GRM3_ENST00000394720.2_Missense_Mutation_p.G465D|GRM3_ENST00000536043.1_Missense_Mutation_p.V695I|GRM3_ENST00000546348.1_Missense_Mutation_p.V415I	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	823					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TGCACCCAAGGTTCACATCAT	0.498																																					GBM(52;969 1098 3139 52280)												0													228.0	165.0	186.0					7																	86479761		2203	4300	6503	SO:0001583	missense	2913				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2467G>A	7.37:g.86479761G>A	ENSP00000355316:p.Val823Ile		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B	p.V823I	ENST00000361669.2	37	c.2467	CCDS5600.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.49|18.49	3.635760|3.635760	0.67130|0.67130	.|.	.|.	ENSG00000198822|ENSG00000198822	ENST00000439827;ENST00000394720|ENST00000361669;ENST00000546348;ENST00000536043	D;D|D;D;D	0.87966|0.88586	-2.32;-2.32|-2.4;-2.4;-2.4	5.96|5.96	5.07|5.07	0.68467|0.68467	.|GPCR, family 3, C-terminal (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89719|0.89719	0.6796|0.6796	L|L	0.61387|0.61387	1.9|1.9	0.33729|0.33729	D|D	0.617959|0.617959	P|P;B;B	0.39250|0.34934	0.665|0.476;0.123;0.149	B|B;B;B	0.37047|0.41619	0.24|0.361;0.108;0.173	D|D	0.93072|0.93072	0.6483|0.6483	9|10	0.13108|0.56958	T|D	0.6|0.05	.|.	16.2117|16.2117	0.82165|0.82165	0.0:0.1332:0.8668:0.0|0.0:0.1332:0.8668:0.0	.|.	467|415;695;823	G5E9K2|B7Z204;F5GYZ2;Q14832	.|.;.;GRM3_HUMAN	D|I	467;465|823;415;695	ENSP00000398767:G467D;ENSP00000378209:G465D|ENSP00000355316:V823I;ENSP00000444064:V415I;ENSP00000441407:V695I	ENSP00000378209:G465D|ENSP00000355316:V823I	G|V	+|+	2|1	0|0	GRM3|GRM3	86317697|86317697	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.857000|9.857000	0.99534|0.99534	1.489000|1.489000	0.48450|0.48450	0.655000|0.655000	0.94253|0.94253	GGT|GTT	GRM3	-	pfam_GPCR_3_C,pfscan_GPCR_3_C		0.498	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	HGNC	protein_coding	OTTHUMT00000253362.2	G			86479761	+1	no_errors	ENST00000361669	ensembl	human	known	70_37	missense	SNP	1.000	A
GSTP1	2950	genome.wustl.edu	37	11	67353729	67353729	+	Intron	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:67353729C>T	ENST00000398606.3	+	6	693				GSTP1_ENST00000398603.1_Intron|GSTP1_ENST00000498765.1_Intron	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1						cellular response to lipopolysaccharide (GO:0071222)|central nervous system development (GO:0007417)|common myeloid progenitor cell proliferation (GO:0035726)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biosynthetic process (GO:0009890)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of leukocyte proliferation (GO:0070664)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|nitric oxide storage (GO:0035732)|positive regulation of superoxide anion generation (GO:0032930)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of stress-activated MAPK cascade (GO:0032872)|response to reactive oxygen species (GO:0000302)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|TRAF2-GSTP1 complex (GO:0097057)|vesicle (GO:0031982)	dinitrosyl-iron complex binding (GO:0035731)|glutathione transferase activity (GO:0004364)|JUN kinase binding (GO:0008432)|kinase regulator activity (GO:0019207)|nitric oxide binding (GO:0070026)|S-nitrosoglutathione binding (GO:0035730)			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Busulfan(DB01008)|Carboplatin(DB00958)|Chlorambucil(DB00291)|Cisplatin(DB00515)|Clomipramine(DB01242)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	CCCTCTGCTTCCAGATGGACA	0.592																																																	0													23.0	24.0	24.0					11																	67353729		2115	4235	6350	SO:0001627	intron_variant	2950			U12472	CCDS41679.1	11q13.2	2014-09-17	2008-07-18		ENSG00000084207	ENSG00000084207	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4638	protein-coding gene	gene with protein product		134660		FAEES3, GST3		1885604, 7587384, 19915149	Standard	NM_000852		Approved	GSTP	uc001omf.3	P09211	OTTHUMG00000137430	ENST00000398606.3:c.444+47C>T	11.37:g.67353729C>T			O00460|Q15690|Q5TZY3	RNA	SNP	-	NULL	ENST00000398606.3	37	NULL	CCDS41679.1	11																																																																																			GSTP1	-	-		0.592	GSTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTP1	HGNC	protein_coding	OTTHUMT00000268504.1	C	NM_000852		67353729	+1	no_errors	ENST00000495996	ensembl	human	putative	70_37	rna	SNP	0.000	T
GSX2	170825	genome.wustl.edu	37	4	54966573	54966573	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:54966573C>T	ENST00000326902.2	+	1	376	c.62C>T	c.(61-63)tCg>tTg	p.S21L	GSX2_ENST00000503800.1_Missense_Mutation_p.S21L|FIP1L1_ENST00000507166.1_Intron	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	21					forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			CCTGCGCCCTCGCTGCCTGAA	0.672																																																	0													49.0	39.0	43.0					4																	54966573		2203	4300	6503	SO:0001583	missense	170825				CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"""Homeoboxes / ANTP class : HOXL subclass"""	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696	ENST00000326902.2:c.62C>T	4.37:g.54966573C>T	ENSP00000319118:p.Ser21Leu			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.S21L	ENST00000326902.2	37	c.62	CCDS3494.1	4	.	.	.	.	.	.	.	.	.	.	C	15.13	2.743155	0.49151	.	.	ENSG00000180613	ENST00000326902;ENST00000503800	T;T	0.79653	-1.29;-1.29	4.43	4.43	0.53597	.	0.389338	0.21410	N	0.074995	T	0.66684	0.2814	N	0.22421	0.69	0.34831	D	0.739734	B	0.32071	0.355	B	0.19391	0.025	T	0.75280	-0.3373	10	0.48119	T	0.1	.	13.1398	0.59428	0.1605:0.8395:0.0:0.0	.	21	Q9BZM3	GSX2_HUMAN	L	21	ENSP00000319118:S21L;ENSP00000422213:S21L	ENSP00000319118:S21L	S	+	2	0	GSX2	54661330	0.991000	0.36638	1.000000	0.80357	0.960000	0.62799	3.416000	0.52707	2.305000	0.77605	0.491000	0.48974	TCG	GSX2	-	NULL		0.672	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSX2	HGNC	protein_coding	OTTHUMT00000250595.1	C	NM_133267		54966573	+1	no_errors	ENST00000326902	ensembl	human	known	70_37	missense	SNP	0.998	T
GTF3C1	2975	genome.wustl.edu	37	16	27561120	27561120	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:27561120C>T	ENST00000356183.4	-	1	107	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	KIAA0556_ENST00000261588.4_5'Flank|GTF3C1_ENST00000561623.1_Missense_Mutation_p.R31Q	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	31					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGGCGGCACTCGCGTCTCCAG	0.657																																																	0													21.0	25.0	24.0					16																	27561120		2195	4300	6495	SO:0001583	missense	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.92G>A	16.37:g.27561120C>T	ENSP00000348510:p.Arg31Gln		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.R31Q	ENST00000356183.4	37	c.92	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	C	35	5.527265	0.96431	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.32272	1.46	4.68	4.68	0.58851	.	0.157048	0.41605	D	0.000859	T	0.59169	0.2174	M	0.81497	2.545	0.36901	D	0.890426	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.71293	-0.4636	10	0.72032	D	0.01	-4.1322	17.2075	0.86922	0.0:1.0:0.0:0.0	.	31;31	Q12789;Q12789-3	TF3C1_HUMAN;.	Q	31	ENSP00000348510:R31Q	ENSP00000348510:R31Q	R	-	2	0	GTF3C1	27468621	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	4.941000	0.63540	2.128000	0.65567	0.555000	0.69702	CGA	GTF3C1	-	NULL		0.657	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	C	NM_001520		27561120	-1	no_errors	ENST00000356183	ensembl	human	known	70_37	missense	SNP	0.997	T
GYLTL1B	120071	genome.wustl.edu	37	11	45948919	45948919	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:45948919C>T	ENST00000531526.1	+	11	1490	c.1379C>T	c.(1378-1380)gCc>gTc	p.A460V	GYLTL1B_ENST00000389968.3_Missense_Mutation_p.A187V|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.A429V|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.A460V|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.A429V|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.A460V	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	460					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		ATGAGCCTGGCCTTGTACCTG	0.617																																																	0													70.0	59.0	63.0					11																	45948919		2203	4299	6502	SO:0001583	missense	120071				CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"""Glycosyltransferase family 8 domain containing"""	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.1379C>T	11.37:g.45948919C>T	ENSP00000432869:p.Ala460Val		A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.A460V	ENST00000531526.1	37	c.1379	CCDS31473.1	11	.	.	.	.	.	.	.	.	.	.	C	29.9	5.049582	0.93740	.	.	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000389968;ENST00000325468;ENST00000536139	T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39	5.76	4.83	0.62350	.	0.049201	0.85682	D	0.000000	T	0.61850	0.2380	M	0.78916	2.43	0.80722	D	1	D;D;D	0.76494	0.999;0.989;0.988	D;D;D	0.75020	0.985;0.945;0.919	T	0.67233	-0.5722	10	0.59425	D	0.04	-21.7626	16.6979	0.85341	0.0:0.8704:0.1296:0.0	.	429;429;460	B3KP69;E9PIZ2;Q8N3Y3	.;.;LARG2_HUMAN	V	429;460;460;187;460;429	ENSP00000431932:A429V;ENSP00000432869:A460V;ENSP00000385235:A460V;ENSP00000374618:A187V;ENSP00000324570:A460V;ENSP00000445044:A429V	ENSP00000324570:A460V	A	+	2	0	GYLTL1B	45905495	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	1.392000	0.46585	0.563000	0.77884	GCC	GYLTL1B	-	NULL		0.617	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GYLTL1B	HGNC	protein_coding	OTTHUMT00000392572.1	C	NM_152312		45948919	+1	no_errors	ENST00000325468	ensembl	human	known	70_37	missense	SNP	1.000	T
GYLTL1B	120071	genome.wustl.edu	37	11	45948953	45948953	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:45948953C>A	ENST00000531526.1	+	11	1524	c.1413C>A	c.(1411-1413)ttC>ttA	p.F471L	GYLTL1B_ENST00000389968.3_Missense_Mutation_p.F198L|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.F440L|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.F471L|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.F440L|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.F471L	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	471					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CTCAGCAGTTCCTGCATTTCG	0.622																																																	0													86.0	71.0	76.0					11																	45948953		2203	4299	6502	SO:0001583	missense	120071				CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"""Glycosyltransferase family 8 domain containing"""	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.1413C>A	11.37:g.45948953C>A	ENSP00000432869:p.Phe471Leu		A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.F471L	ENST00000531526.1	37	c.1413	CCDS31473.1	11	.	.	.	.	.	.	.	.	.	.	C	10.22	1.290612	0.23564	.	.	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000389968;ENST00000325468;ENST00000536139	T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08	5.76	0.666	0.17901	.	0.000000	0.85682	D	0.000000	T	0.27663	0.0680	L	0.35341	1.055	0.54753	D	0.999983	D;B;B	0.76494	0.999;0.091;0.015	D;B;B	0.73380	0.98;0.139;0.071	T	0.01448	-1.1352	10	0.18710	T	0.47	-27.5311	10.4988	0.44794	0.0:0.6824:0.0:0.3176	.	440;440;471	B3KP69;E9PIZ2;Q8N3Y3	.;.;LARG2_HUMAN	L	440;471;471;198;471;440	ENSP00000431932:F440L;ENSP00000432869:F471L;ENSP00000385235:F471L;ENSP00000374618:F198L;ENSP00000324570:F471L;ENSP00000445044:F440L	ENSP00000324570:F471L	F	+	3	2	GYLTL1B	45905529	1.000000	0.71417	0.994000	0.49952	0.429000	0.31625	1.976000	0.40579	-0.114000	0.11936	0.563000	0.77884	TTC	GYLTL1B	-	NULL		0.622	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GYLTL1B	HGNC	protein_coding	OTTHUMT00000392572.1	C	NM_152312		45948953	+1	no_errors	ENST00000325468	ensembl	human	known	70_37	missense	SNP	1.000	A
HABP2	3026	genome.wustl.edu	37	10	115341797	115341797	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:115341797C>T	ENST00000351270.3	+	9	1097	c.1001C>T	c.(1000-1002)tCg>tTg	p.S334L	HABP2_ENST00000542051.1_Missense_Mutation_p.S308L|HABP2_ENST00000541666.1_Intron	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	334	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	CTCCAGTCCTCGCTGCCTCTG	0.602																																																	0													46.0	51.0	49.0					10																	115341797		2203	4300	6503	SO:0001583	missense	3026				CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.1001C>T	10.37:g.115341797C>T	ENSP00000277903:p.Ser334Leu		A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S334L	ENST00000351270.3	37	c.1001	CCDS7577.1	10	.	.	.	.	.	.	.	.	.	.	C	5.281	0.237346	0.10023	.	.	ENSG00000148702	ENST00000542051;ENST00000351270	D;D	0.89270	-2.49;-2.49	5.95	1.72	0.24424	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.106060	0.06882	N	0.802777	T	0.78892	0.4355	N	0.16201	0.385	0.09310	N	1	B	0.18166	0.026	B	0.12156	0.007	T	0.61724	-0.7004	10	0.19590	T	0.45	.	8.8278	0.35065	0.0:0.5981:0.0:0.4019	.	334	Q14520	HABP2_HUMAN	L	308;334	ENSP00000443283:S308L;ENSP00000277903:S334L	ENSP00000277903:S334L	S	+	2	0	HABP2	115331787	0.000000	0.05858	0.238000	0.24106	0.017000	0.09413	-0.240000	0.08952	0.333000	0.23563	0.491000	0.48974	TCG	HABP2	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.602	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HABP2	HGNC	protein_coding	OTTHUMT00000050428.1	C	NM_004132		115341797	+1	no_errors	ENST00000351270	ensembl	human	known	70_37	missense	SNP	0.016	T
HDAC6	10013	genome.wustl.edu	37	X	48676649	48676649	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:48676649C>T	ENST00000334136.5	+	22	2195	c.2017C>T	c.(2017-2019)Cgc>Tgc	p.R673C	HDAC6_ENST00000376619.2_Missense_Mutation_p.R673C|HDAC6_ENST00000444343.2_Missense_Mutation_p.R687C			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	673	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GTCCCTGCACCGCTATGATCA	0.642																																					Pancreas(112;205 1675 2305 8976 15959)												0													75.0	49.0	58.0					X																	48676649		2193	4288	6481	SO:0001583	missense	10013			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.2017C>T	X.37:g.48676649C>T	ENSP00000334061:p.Arg673Cys		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse	p.R687C	ENST00000334136.5	37	c.2059	CCDS14306.1	X	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835404	0.91117	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	T;T;T	0.72167	-0.63;-0.63;-0.63	5.35	5.35	0.76521	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.86777	0.6014	M	0.89785	3.06	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89603	0.3836	10	0.87932	D	0	-21.423	15.4029	0.74855	0.0:1.0:0.0:0.0	.	663;321;673	B4DZN1;B3KVK5;Q9UBN7	.;.;HDAC6_HUMAN	C	687;673;673;673	ENSP00000398566:R687C;ENSP00000334061:R673C;ENSP00000365804:R673C	ENSP00000334061:R673C	R	+	1	0	HDAC6	48561593	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.456000	0.66665	2.229000	0.72834	0.600000	0.82982	CGC	HDAC6	-	pfam_His_deacetylse_dom		0.642	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	HGNC	protein_coding	OTTHUMT00000083394.2	C	NM_006044		48676649	+1	no_errors	ENST00000444343	ensembl	human	known	70_37	missense	SNP	1.000	T
HEATR5A	25938	genome.wustl.edu	37	14	31806814	31806814	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:31806814G>C	ENST00000389961.3	-	21	3216	c.3217C>G	c.(3217-3219)Ctt>Gtt	p.L1073V	HEATR5A_ENST00000543095.2_Missense_Mutation_p.L1079V|HEATR5A_ENST00000439348.1_Missense_Mutation_p.L1073V|HEATR5A_ENST00000404677.3_Missense_Mutation_p.L1079V|HEATR5A_ENST00000439727.1_Missense_Mutation_p.L786V			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1073										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GGGCTACAAAGATTCACCTGA	0.423																																																	0													54.0	51.0	52.0					14																	31806814		1863	4113	5976	SO:0001583	missense	25938			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.3217C>G	14.37:g.31806814G>C	ENSP00000374611:p.Leu1073Val		Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L1073V	ENST00000389961.3	37	c.3217		14	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	20.8|20.8|20.8	4.048952|4.048952|4.048952	0.75846|0.75846|0.75846	.|.|.	.|.|.	ENSG00000129493|ENSG00000129493|ENSG00000129493	ENST00000538864;ENST00000549719|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000550366	.|T;T;T;T;T|.	.|0.09538|.	.|2.97;2.97;2.97;2.97;2.97|.	5.29|5.29|5.29	5.29|5.29|5.29	0.74685|0.74685|0.74685	.|Armadillo-like helical (1);Armadillo-type fold (1);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	D|D|D	0.82328|0.82328|0.82328	0.5013|0.5013|0.5013	M|M|M	0.84219|0.84219|0.84219	2.685|2.685|2.685	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D|.	.|0.76494|.	.|0.999;0.998;0.999|.	.|D;D;D|.	.|0.87578|.	.|0.998;0.988;0.976|.	D|D|D	0.83608|0.83608|0.83608	0.0132|0.0132|0.0132	5|10|5	.|0.87932|.	.|D|.	.|0|.	.|.|.	18.9278|18.9278|18.9278	0.92552|0.92552|0.92552	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|1079;1073;1073|.	.|B5MC49;Q86XA9-2;Q86XA9|.	.|.;.;HTR5A_HUMAN|.	M|V|C	706;106|1073;1073;786;1079;1079|721	.|ENSP00000374611:L1073V;ENSP00000405407:L1073V;ENSP00000408681:L786V;ENSP00000437968:L1079V;ENSP00000384646:L1079V|.	.|ENSP00000374611:L1073V|.	I|L|S	-|-|-	3|1|2	3|0|0	HEATR5A|HEATR5A|HEATR5A	30876565|30876565|30876565	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.984000|0.984000|0.984000	0.73092|0.73092|0.73092	4.861000|4.861000|4.861000	0.62969|0.62969|0.62969	2.484000|2.484000|2.484000	0.83849|0.83849|0.83849	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	ATC|CTT|TCT	HEATR5A	-	superfamily_ARM-type_fold		0.423	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding		G	NM_015473		31806814	-1	no_errors	ENST00000389961	ensembl	human	known	70_37	missense	SNP	1.000	C
MROH7	374977	genome.wustl.edu	37	1	55175727	55175727	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:55175727G>A	ENST00000421030.2	+	24	4124	c.3839G>A	c.(3838-3840)gGg>gAg	p.G1280E	MROH7_ENST00000409996.1_Missense_Mutation_p.G848E|MROH7_ENST00000454855.2_Missense_Mutation_p.G798E|MROH7-TTC4_ENST00000414150.2_Intron	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	1280						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CTGCCGCACGGGAACTCATGG	0.617																																																	0													40.0	44.0	43.0					1																	55175727		2031	4182	6213	SO:0001583	missense	374977			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.3839G>A	1.37:g.55175727G>A	ENSP00000396622:p.Gly1280Glu		A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.G1280E	ENST00000421030.2	37	c.3839	CCDS41342.2	1	.	.	.	.	.	.	.	.	.	.	g	11.08	1.532231	0.27387	.	.	ENSG00000184313	ENST00000421030;ENST00000409996;ENST00000454855;ENST00000371287	T;T;T;T	0.14144	4.62;4.44;4.33;2.53	5.17	3.28	0.37604	.	.	.	.	.	T	0.16981	0.0408	L	0.57536	1.79	0.09310	N	1	P;P	0.48016	0.904;0.557	P;B	0.44897	0.463;0.17	T	0.11227	-1.0596	9	0.72032	D	0.01	.	7.1579	0.25647	0.093:0.1723:0.7346:0.0	.	1280;1279	Q68CQ1;Q68CQ1-9	HEAT8_HUMAN;.	E	1280;848;798;349	ENSP00000396622:G1280E;ENSP00000387048:G848E;ENSP00000401130:G798E;ENSP00000360336:G349E	ENSP00000360336:G349E	G	+	2	0	HEATR8	54948315	0.998000	0.40836	0.004000	0.12327	0.022000	0.10575	3.123000	0.50453	0.550000	0.28991	-0.235000	0.12190	GGG	HEATR8	-	NULL		0.617	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR8	HGNC	protein_coding	OTTHUMT00000346978.1	G	NM_198547		55175727	+1	no_errors	ENST00000421030	ensembl	human	known	70_37	missense	SNP	0.012	A
HIST1H3D	8351	genome.wustl.edu	37	6	26197326	26197326	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:26197326C>T	ENST00000356476.2	-	1	152	c.153G>A	c.(151-153)gaG>gaA	p.E51E	HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000377831.5_Silent_p.E51E			P68431	H31_HUMAN	histone cluster 1, H3d	51					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				AGCGGCGGATCTCGCGCAGAG	0.632																																					GBM(108;3816 4467)												0													48.0	52.0	51.0					6																	26197326		2203	4300	6503	SO:0001819	synonymous_variant	8351			Z80784	CCDS4590.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197409	ENSG00000197409		"""Histones / Replication-dependent"""	4767	protein-coding gene	gene with protein product		602811	"""H3 histone family, member B"", ""histone 1, H3d"""	H3FB		9119399, 12408966	Standard	NM_003530		Approved	H3/b	uc003ngv.4	P68431	OTTHUMG00000014433	ENST00000356476.2:c.153G>A	6.37:g.26197326C>T			A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E51	ENST00000356476.2	37	c.153	CCDS4590.1	6																																																																																			HIST1H3D	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.632	HIST1H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3D	HGNC	protein_coding	OTTHUMT00000040096.1	C	NM_003530		26197326	-1	no_errors	ENST00000356476	ensembl	human	known	70_37	silent	SNP	1.000	T
HIST1H4K	8362	genome.wustl.edu	37	6	27798995	27798995	+	Nonstop_Mutation	SNP	C	C	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:27798995C>A	ENST00000357549.2	-	1	310	c.311G>T	c.(310-312)tGa>tTa	p.*104L		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	0					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						AAGGGACGCTCAACCACCGAA	0.552																																																	0													37.0	40.0	39.0					6																	27798995		2203	4300	6503	SO:0001578	stop_lost	8362			X60483	CCDS4631.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197914	ENSG00000273542		"""Histones / Replication-dependent"""	4784	protein-coding gene	gene with protein product		602825	"""H4 histone family, member D"", ""histone 1, H4k"""	H4FD		9439656, 12408966	Standard	NM_003541		Approved	H4/d, H4F2iii, dJ160A22.1	uc003njr.3	P62805	OTTHUMG00000014488	ENST00000357549.2:c.311G>T	6.37:g.27798995C>A			A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Nonstop_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.*104L	ENST00000357549.2	37	c.311	CCDS4631.1	6	.	.	.	.	.	.	.	.	.	.	.	2.735	-0.263582	0.05754	.	.	ENSG00000197914	ENST00000357549	.	.	.	4.26	-6.96	0.01622	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7158	0.77667	0.0:0.3071:0.0:0.6929	.	.	.	.	L	104	.	.	X	-	2	2	HIST1H4K	27906974	0.850000	0.29656	0.000000	0.03702	0.000000	0.00434	0.033000	0.13754	-2.164000	0.00782	-1.851000	0.00568	TGA	HIST1H4K	-	NULL		0.552	HIST1H4K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4K	HGNC	protein_coding	OTTHUMT00000040156.1	C	NM_003541		27798995	-1	no_errors	ENST00000357549	ensembl	human	known	70_37	nonstop	SNP	0.004	A
HIST2H2AB	317772	genome.wustl.edu	37	1	149859223	149859223	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:149859223G>A	ENST00000331128.3	-	1	243	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	82						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R82G(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TGCAGATGGCGAGGGATGATG	0.612																																																	1	Substitution - Missense(1)	cervix(1)											95.0	88.0	91.0					1																	149859223		2203	4300	6503	SO:0001583	missense	317772			AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"""Histones / Replication-dependent"""	20508	protein-coding gene	gene with protein product		615014	"""histone 2, H2ab"""			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.244C>T	1.37:g.149859223G>A	ENSP00000332790:p.Arg82Cys			Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.R82C	ENST00000331128.3	37	c.244	CCDS938.1	1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257722	0.59321	.	.	ENSG00000184270	ENST00000331128	T	0.72505	-0.66	4.49	4.49	0.54785	Histone-fold (2);Histone core (1);Histone H2A (2);	0.100753	0.43919	D	0.000501	D	0.82912	0.5140	M	0.92169	3.28	0.80722	D	1	D	0.65815	0.995	P	0.59221	0.854	D	0.87005	0.2119	10	0.72032	D	0.01	.	15.0634	0.71973	0.0:0.0:1.0:0.0	.	82	Q8IUE6	H2A2B_HUMAN	C	82	ENSP00000332790:R82C	ENSP00000332790:R82C	R	-	1	0	HIST2H2AB	148125847	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.709000	0.61867	2.480000	0.83734	0.561000	0.74099	CGC	HIST2H2AB	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A		0.612	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2AB	HGNC	protein_coding	OTTHUMT00000033440.1	G	NM_175065		149859223	-1	no_errors	ENST00000331128	ensembl	human	known	70_37	missense	SNP	1.000	A
HIVEP2	3097	genome.wustl.edu	37	6	143074975	143074975	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:143074975C>T	ENST00000367604.1	-	9	7249	c.6610G>A	c.(6610-6612)Gag>Aag	p.E2204K	HIVEP2_ENST00000012134.2_Missense_Mutation_p.E2204K|RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367603.2_Missense_Mutation_p.E2204K			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2204					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTAGGACCCTCAGGGAAAAGG	0.502																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													98.0	99.0	99.0					6																	143074975		1917	4123	6040	SO:0001583	missense	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6610G>A	6.37:g.143074975C>T	ENSP00000356576:p.Glu2204Lys		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E2204K	ENST00000367604.1	37	c.6610	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784095	0.49997	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02323	4.34;4.34;4.34	5.65	5.65	0.86999	.	0.372336	0.31323	N	0.007851	T	0.06872	0.0175	L	0.45581	1.43	0.49915	D	0.99983	D	0.69078	0.997	D	0.73380	0.98	T	0.50849	-0.8779	10	0.31617	T	0.26	-20.1578	19.7301	0.96179	0.0:1.0:0.0:0.0	.	2204	P31629	ZEP2_HUMAN	K	2204	ENSP00000356576:E2204K;ENSP00000356575:E2204K;ENSP00000012134:E2204K	ENSP00000012134:E2204K	E	-	1	0	HIVEP2	143116668	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.766000	0.55280	2.676000	0.91093	0.655000	0.94253	GAG	HIVEP2	-	NULL		0.502	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	C			143074975	-1	no_errors	ENST00000012134	ensembl	human	known	70_37	missense	SNP	1.000	T
HMCN1	83872	genome.wustl.edu	37	1	185902924	185902924	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:185902924C>T	ENST00000271588.4	+	11	2025	c.1796C>T	c.(1795-1797)tCa>tTa	p.S599L	HMCN1_ENST00000367492.2_Missense_Mutation_p.S599L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	599	Ig-like C2-type 2.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAGGTGGATCATCAGCCGCT	0.403																																																	0													152.0	149.0	150.0					1																	185902924		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1796C>T	1.37:g.185902924C>T	ENSP00000271588:p.Ser599Leu		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.S599L	ENST00000271588.4	37	c.1796	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	7.672	0.687184	0.14973	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68765	-0.35;-0.35	5.67	3.78	0.43462	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.519042	0.20560	N	0.089936	T	0.74458	0.3719	L	0.52823	1.66	0.09310	N	1	D	0.60160	0.987	D	0.67382	0.951	T	0.64292	-0.6442	10	0.32370	T	0.25	.	11.5408	0.50665	0.0:0.8066:0.1251:0.0683	.	599	Q96RW7	HMCN1_HUMAN	L	599	ENSP00000271588:S599L;ENSP00000356462:S599L	ENSP00000271588:S599L	S	+	2	0	HMCN1	184169547	0.073000	0.21202	0.106000	0.21319	0.088000	0.18126	1.510000	0.35790	0.741000	0.32674	0.655000	0.94253	TCA	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	C	NM_031935		185902924	+1	no_errors	ENST00000271588	ensembl	human	known	70_37	missense	SNP	0.006	T
HOXA7	3204	genome.wustl.edu	37	7	27194714	27194714	+	Silent	SNP	G	G	A	rs150261196		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:27194714G>A	ENST00000242159.3	-	2	640	c.507C>T	c.(505-507)ctC>ctT	p.L169L	RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000521231.1_RNA|HOXA7_ENST00000523796.2_5'UTR|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000524304.1_RNA|RP1-170O19.23_ENST00000498652.1_RNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	169					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GGCGCTCGGTGAGGCAGAGCG	0.622																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	90.0	101.0	97.0		507	5.0	1.0	7	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous	HOXA7	NM_006896.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		169/231	27194714	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3204				CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"""Homeoboxes / ANTP class : HOXL subclass"""	5108	protein-coding gene	gene with protein product		142950	"""homeo box A7"""	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.507C>T	7.37:g.27194714G>A			A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.L169	ENST00000242159.3	37	c.507	CCDS5408.1	7																																																																																			HOXA7	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa		0.622	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA7	HGNC	protein_coding	OTTHUMT00000358695.1	G			27194714	-1	no_errors	ENST00000242159	ensembl	human	known	70_37	silent	SNP	1.000	A
HSPBP1	23640	genome.wustl.edu	37	19	55790870	55790870	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:55790870G>A	ENST00000255631.5	-	3	417	c.107C>T	c.(106-108)tCg>tTg	p.S36L	HSPBP1_ENST00000587922.1_Missense_Mutation_p.S36L|HSPBP1_ENST00000433386.2_Missense_Mutation_p.S36L|BRSK1_ENST00000590333.1_5'Flank|HSPBP1_ENST00000376343.3_Missense_Mutation_p.S36L	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	36	Gly-rich.				negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)		enzyme inhibitor activity (GO:0004857)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GGAATTGCCCGAGCCCCCAGC	0.711																																																	0													12.0	16.0	15.0					19																	55790870		2183	4267	6450	SO:0001583	missense	23640				CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265			24989	protein-coding gene	gene with protein product	"""hsp70 interacting protein"", ""Hsp70 binding protein 1"""	612939				10786638, 9830037	Standard	NM_001130106		Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.107C>T	19.37:g.55790870G>A	ENSP00000255631:p.Ser36Leu		B3KQP0|B4DG11|O95351|Q6ZNU5	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S36L	ENST00000255631.5	37	c.107	CCDS33111.1	19	.	.	.	.	.	.	.	.	.	.	.	11.93	1.785285	0.31593	.	.	ENSG00000133265	ENST00000433386;ENST00000255631;ENST00000376343	T;T	0.77750	-1.12;-1.12	3.93	2.9	0.33743	.	0.936163	0.08879	N	0.880389	T	0.65595	0.2706	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.22003	0.026;0.063;0.063;0.026	B;B;B;B	0.13407	0.005;0.009;0.009;0.009	T	0.51004	-0.8760	10	0.30078	T	0.28	.	4.5445	0.12074	0.1101:0.0:0.5411:0.3488	.	36;39;39;82	C9JNI7;Q9NZL4-2;Q9NZL4;B4DG11	.;.;HPBP1_HUMAN;.	L	36	ENSP00000398244:S36L;ENSP00000255631:S36L	ENSP00000255631:S36L	S	-	2	0	HSPBP1	60482682	1.000000	0.71417	0.069000	0.20011	0.138000	0.21146	2.748000	0.47483	2.197000	0.70478	0.491000	0.48974	TCG	HSPBP1	-	NULL		0.711	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	HSPBP1	HGNC	protein_coding	OTTHUMT00000452670.1	G	NM_012267		55790870	-1	no_errors	ENST00000255631	ensembl	human	known	70_37	missense	SNP	0.102	A
HTATSF1	27336	genome.wustl.edu	37	X	135593294	135593294	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:135593294G>A	ENST00000218364.4	+	9	1564	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K	HTATSF1_ENST00000535601.1_Missense_Mutation_p.E464K	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	464	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AGGCTGCCCTGAAAAAGAATC	0.468																																																	0													51.0	57.0	55.0					X																	135593294		2186	4287	6473	SO:0001583	missense	27336			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1390G>A	X.37:g.135593294G>A	ENSP00000218364:p.Glu464Lys		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E464K	ENST00000218364.4	37	c.1390	CCDS14657.1	X	.	.	.	.	.	.	.	.	.	.	G	0.045	-1.268666	0.01433	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.21031	2.03;2.03	3.5	-1.88	0.07713	.	1.121870	0.06768	N	0.782983	T	0.08403	0.0209	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37267	-0.9713	10	0.09084	T	0.74	10.3581	5.4381	0.16492	0.5133:0.1725:0.3142:0.0	.	464	O43719	HTSF1_HUMAN	K	464	ENSP00000442699:E464K;ENSP00000218364:E464K	ENSP00000218364:E464K	E	+	1	0	HTATSF1	135420960	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.285000	0.18883	-0.586000	0.05898	-0.355000	0.07637	GAA	HTATSF1	-	NULL		0.468	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATSF1	HGNC	protein_coding	OTTHUMT00000058497.1	G	NM_014500		135593294	+1	no_errors	ENST00000218364	ensembl	human	known	70_37	missense	SNP	0.000	A
HUS1B	135458	genome.wustl.edu	37	6	656450	656450	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:656450C>T	ENST00000380907.2	-	1	513	c.495G>A	c.(493-495)ctG>ctA	p.L165L	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	165					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CGATGCTCCTCAGCGTCCTCC	0.667																																																	0													82.0	88.0	86.0					6																	656450		2202	4295	6497	SO:0001819	synonymous_variant	135458			AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"""HUS1 (S. pombe) checkpoint homolog b"""			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.495G>A	6.37:g.656450C>T			Q5T4Z2	Silent	SNP	pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1	p.L165	ENST00000380907.2	37	c.495	CCDS4470.1	6																																																																																			HUS1B	-	pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1		0.667	HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUS1B	HGNC	protein_coding	OTTHUMT00000205617.2	C	NM_148959		656450	-1	no_errors	ENST00000380907	ensembl	human	known	70_37	silent	SNP	0.557	T
IGF2R	3482	genome.wustl.edu	37	6	160479062	160479062	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:160479062C>G	ENST00000356956.1	+	21	2952	c.2804C>G	c.(2803-2805)tCt>tGt	p.S935C		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	935					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TAGGCTTGCTCTATAAGGGAT	0.413																																																	0													159.0	148.0	152.0					6																	160479062		2203	4300	6503	SO:0001583	missense	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.2804C>G	6.37:g.160479062C>G	ENSP00000349437:p.Ser935Cys		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.S935C	ENST00000356956.1	37	c.2804	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805036	0.70682	.	.	ENSG00000197081	ENST00000356956	T	0.02421	4.3	5.65	5.65	0.86999	Mannose-6-phosphate receptor, binding (1);	0.296778	0.38605	N	0.001621	T	0.10508	0.0257	M	0.75777	2.31	0.58432	D	0.999999	D	0.76494	0.999	D	0.69479	0.964	T	0.01748	-1.1282	10	0.51188	T	0.08	-8.2385	19.6915	0.96002	0.0:1.0:0.0:0.0	.	935	P11717	MPRI_HUMAN	C	935	ENSP00000349437:S935C	ENSP00000349437:S935C	S	+	2	0	IGF2R	160399052	1.000000	0.71417	0.344000	0.25628	0.523000	0.34469	6.294000	0.72738	2.824000	0.97209	0.655000	0.94253	TCT	IGF2R	-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom		0.413	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	C	NM_000876		160479062	+1	no_errors	ENST00000356956	ensembl	human	known	70_37	missense	SNP	0.975	G
IL18R1	8809	genome.wustl.edu	37	2	102979123	102979123	+	Start_Codon_SNP	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:102979123G>A	ENST00000409599.1	+	3	359	c.3G>A	c.(1-3)atG>atA	p.M1I	IL18R1_ENST00000233957.1_Start_Codon_SNP_p.M1I|IL18R1_ENST00000334376.3_Start_Codon_SNP_p.M1I			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	1					immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TCCAAACCATGAATTGTAGAG	0.358																																																	0													144.0	150.0	148.0					2																	102979123		2203	4300	6503	SO:0001582	initiator_codon_variant	8809			U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.3G>A	2.37:g.102979123G>A	ENSP00000387211:p.Met1Ile		B2R9Y5|Q52LC9	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.M1I	ENST00000409599.1	37	c.3	CCDS2060.1	2	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271293	0.59649	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957;ENST00000334376	T;T;T	0.01446	4.88;4.88;4.88	4.22	4.22	0.49857	.	.	.	.	.	T	0.08670	0.0215	.	.	.	0.80722	D	1	D;D;D	0.67145	0.993;0.996;0.993	D;D;D	0.78314	0.956;0.991;0.956	T	0.00389	-1.1770	8	0.87932	D	0	.	12.4297	0.55567	0.0:0.0:1.0:0.0	.	1;1;1	B7ZKV7;Q86YL8;Q13478	.;.;IL18R_HUMAN	I	1	ENSP00000386663:M1I;ENSP00000387211:M1I;ENSP00000233957:M1I	ENSP00000233957:M1I	M	+	3	0	IL18R1	102345555	0.991000	0.36638	0.573000	0.28510	0.008000	0.06430	3.690000	0.54713	2.656000	0.90262	0.580000	0.79431	ATG	IL18R1	-	NULL		0.358	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL18R1	HGNC	protein_coding	OTTHUMT00000253294.2	G	NM_003855	Missense_Mutation	102979123	+1	no_errors	ENST00000233957	ensembl	human	known	70_37	missense	SNP	0.621	A
IQCA1	79781	genome.wustl.edu	37	2	237349739	237349739	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:237349739G>A	ENST00000409907.3	-	7	1229	c.955C>T	c.(955-957)Cct>Tct	p.P319S	IQCA1_ENST00000465621.1_5'UTR|IQCA1_ENST00000309507.5_Missense_Mutation_p.P315S|IQCA1_ENST00000431676.2_Missense_Mutation_p.P319S	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	319							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TCAACGTCAGGGTAGTCAGGA	0.333																																																	0													31.0	30.0	30.0					2																	237349739		1796	4055	5851	SO:0001583	missense	79781			AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.955C>T	2.37:g.237349739G>A	ENSP00000387347:p.Pro319Ser		B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfscan_IQ_motif_EF-hand-BS	p.P319S	ENST00000409907.3	37	c.955	CCDS46549.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.73|14.73	2.622039|2.622039	0.46840|0.46840	.|.	.|.	ENSG00000132321|ENSG00000132321	ENST00000418802|ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	.|D;D;D	.|0.97941	.|-4.37;-4.42;-4.62	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.000000|0.000000	0.56097|0.56097	D|D	0.000026|0.000026	D|D	0.98826|0.98826	0.9604|0.9604	M|M	0.89715|0.89715	3.055|3.055	0.45150|0.45150	D|D	0.998162|0.998162	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.984;1.0;0.993	D|D	0.99486|0.99486	1.0949|1.0949	6|10	.|0.66056	.|D	.|0.02	.|.	14.2016|14.2016	0.65707|0.65707	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|319;326;319	.|E7EWQ0;E9PH78;Q86XH1	.|.;.;IQCA1_HUMAN	L|S	337|319;326;315;319;315	.|ENSP00000387347:P319S;ENSP00000311951:P315S;ENSP00000407213:P319S	.|ENSP00000254653:P319S	P|P	-|-	2|1	0|0	IQCA1|IQCA1	237014478|237014478	1.000000|1.000000	0.71417|0.71417	0.597000|0.597000	0.28824|0.28824	0.162000|0.162000	0.22319|0.22319	5.347000|5.347000	0.65998|0.65998	2.410000|2.410000	0.81850|0.81850	0.557000|0.557000	0.71058|0.71058	CCC|CCT	IQCA1	-	NULL		0.333	IQCA1-001	KNOWN	basic|CCDS	protein_coding	IQCA1	HGNC	protein_coding	OTTHUMT00000329266.1	G	NM_024726		237349739	-1	no_errors	ENST00000409907	ensembl	human	known	70_37	missense	SNP	0.990	A
IQSEC3	440073	genome.wustl.edu	37	12	271225	271225	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:271225G>A	ENST00000538872.1	+	8	2695	c.2577G>A	c.(2575-2577)atG>atA	p.M859I	RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.M556I|IQSEC3_ENST00000326261.4_Missense_Mutation_p.M859I			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	859	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TTGTGGGCATGAAGACAGTGA	0.488																																																	0													134.0	93.0	107.0					12																	271225		2203	4300	6503	SO:0001583	missense	440073			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2577G>A	12.37:g.271225G>A	ENSP00000437554:p.Met859Ile		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7	p.M859I	ENST00000538872.1	37	c.2577	CCDS53728.1	12	.	.	.	.	.	.	.	.	.	.	G	16.27	3.077319	0.55753	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.28069	1.63;1.63;1.63	5.54	5.54	0.83059	.	0.135104	0.46442	D	0.000294	T	0.45236	0.1332	M	0.67953	2.075	0.80722	D	1	B;B	0.30741	0.293;0.264	B;B	0.40901	0.324;0.343	T	0.42649	-0.9439	10	0.62326	D	0.03	.	19.4846	0.95024	0.0:0.0:1.0:0.0	.	859;556	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	I	859;859;556	ENSP00000437554:M859I;ENSP00000315662:M859I;ENSP00000372292:M556I	ENSP00000315662:M859I	M	+	3	0	IQSEC3	141486	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	9.778000	0.99011	2.604000	0.88044	0.561000	0.74099	ATG	IQSEC3	-	NULL		0.488	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC3	HGNC	protein_coding	OTTHUMT00000397382.3	G	XM_495902		271225	+1	no_errors	ENST00000326261	ensembl	human	known	70_37	missense	SNP	1.000	A
ITGA10	8515	genome.wustl.edu	37	1	145539770	145539770	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:145539770C>A	ENST00000369304.3	+	27	3377	c.3202C>A	c.(3202-3204)Ctg>Atg	p.L1068M	ITGA10_ENST00000538811.1_Missense_Mutation_p.L937M|RP11-315I20.3_ENST00000415065.2_RNA|ITGA10_ENST00000539363.1_Missense_Mutation_p.L925M	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	1068					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACTATTGAGGCTGGTTCACAA	0.478																																																	0													133.0	128.0	130.0					1																	145539770		2203	4300	6503	SO:0001583	missense	8515			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.3202C>A	1.37:g.145539770C>A	ENSP00000358310:p.Leu1068Met		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.L1068M	ENST00000369304.3	37	c.3202	CCDS918.1	1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330989	0.41297	.	.	ENSG00000143127	ENST00000369304;ENST00000539363;ENST00000538811	T;T;T	0.50813	0.73;0.73;0.73	5.59	2.46	0.29980	.	0.387908	0.23387	N	0.048733	T	0.25269	0.0614	L	0.47716	1.5	0.26822	N	0.968773	P;P;B	0.40398	0.587;0.716;0.452	B;B;B	0.43575	0.424;0.366;0.243	T	0.04723	-1.0931	10	0.49607	T	0.09	.	8.2993	0.32004	0.0:0.4808:0.4333:0.0859	.	937;925;1068	F5GY13;B2RTV5;O75578	.;.;ITA10_HUMAN	M	1068;925;937	ENSP00000358310:L1068M;ENSP00000439894:L925M;ENSP00000440011:L937M	ENSP00000358310:L1068M	L	+	1	2	ITGA10	144251127	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	0.936000	0.28938	0.685000	0.31468	0.563000	0.77884	CTG	ITGA10	-	NULL		0.478	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	HGNC	protein_coding	OTTHUMT00000038537.2	C	NM_003637		145539770	+1	no_errors	ENST00000369304	ensembl	human	known	70_37	missense	SNP	1.000	A
ITGB1	3688	genome.wustl.edu	37	10	33199333	33199333	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:33199333C>T	ENST00000396033.2	-	14	2117	c.1982G>A	c.(1981-1983)tGc>tAc	p.C661Y	ITGB1_ENST00000302278.3_Missense_Mutation_p.C661Y|ITGB1_ENST00000423113.1_Missense_Mutation_p.C661Y|ITGB1_ENST00000374956.4_Missense_Mutation_p.C661Y	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	661					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	TTCCTGTGTGCATGTGTCTTT	0.373																																																	0													49.0	51.0	51.0					10																	33199333		2203	4297	6500	SO:0001583	missense	3688			BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1982G>A	10.37:g.33199333C>T	ENSP00000379350:p.Cys661Tyr		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu	p.C661Y	ENST00000396033.2	37	c.1982	CCDS7174.1	10	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456651	0.84317	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53	5.64	5.64	0.86602	Integrin beta subunit, tail (2);	0.000000	0.85682	D	0.000000	D	0.98210	0.9408	H	0.94964	3.605	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.986;0.996;0.991	D	0.98934	1.0788	10	0.87932	D	0	.	19.7116	0.96098	0.0:1.0:0.0:0.0	.	661;661;661;661;661	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	Y	661	ENSP00000379350:C661Y;ENSP00000388694:C661Y;ENSP00000303351:C661Y;ENSP00000364094:C661Y	ENSP00000303351:C661Y	C	-	2	0	ITGB1	33239339	1.000000	0.71417	0.925000	0.36789	0.880000	0.50808	7.818000	0.86416	2.673000	0.90976	0.555000	0.69702	TGC	ITGB1	-	pfam_Integrin_bsu_tail,superfamily_Integrin_bsu_tail,pirsf_Integrin_bsu		0.373	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGB1	HGNC	protein_coding	OTTHUMT00000047496.1	C	NM_002211		33199333	-1	no_errors	ENST00000374956	ensembl	human	known	70_37	missense	SNP	0.999	T
ITSN2	50618	genome.wustl.edu	37	2	24443894	24443894	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:24443894C>G	ENST00000355123.4	-	30	4062	c.3619G>C	c.(3619-3621)Gag>Cag	p.E1207Q	ITSN2_ENST00000361999.3_Missense_Mutation_p.E1180Q|ITSN2_ENST00000406921.3_Missense_Mutation_p.E1207Q|AC009228.1_ENST00000413989.1_RNA|AC009228.1_ENST00000430105.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1207					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTTCCTCTCAATTGGCTGC	0.468																																																	0													215.0	187.0	197.0					2																	24443894		2203	4300	6503	SO:0001583	missense	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.3619G>C	2.37:g.24443894C>G	ENSP00000347244:p.Glu1207Gln		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.E1207Q	ENST00000355123.4	37	c.3619	CCDS1710.2	2	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677316	0.68042	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	4.64	4.64	0.57946	Dbl homology (DH) domain (2);	0.000000	0.37178	U	0.002204	T	0.45013	0.1321	L	0.29908	0.895	0.58432	D	0.999992	D;D;D	0.89917	1.0;0.999;0.989	D;D;P	0.72982	0.979;0.934;0.698	T	0.46610	-0.9179	10	0.72032	D	0.01	.	18.0763	0.89428	0.0:1.0:0.0:0.0	.	1207;1180;1207	Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;ITSN2_HUMAN	Q	1180;1207;1180;1207	ENSP00000354561:E1180Q;ENSP00000347244:E1207Q;ENSP00000370250:E1180Q;ENSP00000384499:E1207Q	ENSP00000347244:E1207Q	E	-	1	0	ITSN2	24297398	1.000000	0.71417	0.954000	0.39281	0.998000	0.95712	7.228000	0.78079	2.586000	0.87340	0.561000	0.74099	GAG	ITSN2	-	superfamily_DH-domain		0.468	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	HGNC	protein_coding	OTTHUMT00000207620.2	C	NM_006277		24443894	-1	no_errors	ENST00000355123	ensembl	human	known	70_37	missense	SNP	1.000	G
JAK2	3717	genome.wustl.edu	37	9	5123014	5123014	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:5123014G>T	ENST00000381652.3	+	23	3564	c.3070G>T	c.(3070-3072)Gaa>Taa	p.E1024*	JAK2_ENST00000539801.1_Nonsense_Mutation_p.E1024*|JAK2_ENST00000544510.1_Nonsense_Mutation_p.E875*	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	1024	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GTATGCTCCAGAATCACTGAC	0.338		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																															Dom	yes		9	9p24	3717	Janus kinase 2		L	0													107.0	105.0	105.0					9																	5123014		2203	4300	6503	SO:0001587	stop_gained	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.3070G>T	9.37:g.5123014G>T	ENSP00000371067:p.Glu1024*		O14636|O75297	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E1024*	ENST00000381652.3	37	c.3070	CCDS6457.1	9	.	.	.	.	.	.	.	.	.	.	G	44	10.678582	0.99448	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.8501	19.4303	0.94760	0.0:0.0:1.0:0.0	.	.	.	.	X	1024;1024;875	.	ENSP00000371067:E1024X	E	+	1	0	JAK2	5113014	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.459000	0.97638	2.579000	0.87056	0.650000	0.86243	GAA	JAK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.338	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK2	HGNC	protein_coding	OTTHUMT00000051609.1	G			5123014	+1	no_errors	ENST00000381652	ensembl	human	known	70_37	nonsense	SNP	1.000	T
JARID2	3720	genome.wustl.edu	37	6	15497208	15497208	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:15497208C>T	ENST00000341776.2	+	7	1996	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	JARID2_ENST00000541660.1_Silent_p.F546F|JARID2_ENST00000397311.3_Silent_p.F412F	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	584	JmjN. {ECO:0000255|PROSITE- ProRule:PRU00537}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGGAGAAGTTCGGGATGTGCA	0.627																																																	0													63.0	56.0	58.0					6																	15497208		2203	4300	6503	SO:0001819	synonymous_variant	3720			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1752C>T	6.37:g.15497208C>T			A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.F584	ENST00000341776.2	37	c.1752	CCDS4533.1	6																																																																																			JARID2	-	pfam_TF_JmjN,smart_TF_JmjN,pfscan_TF_JmjN		0.627	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1	C	NM_004973		15497208	+1	no_errors	ENST00000341776	ensembl	human	known	70_37	silent	SNP	0.972	T
KCNH8	131096	genome.wustl.edu	37	3	19479678	19479678	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:19479678G>C	ENST00000328405.2	+	8	1466	c.1200G>C	c.(1198-1200)aaG>aaC	p.K400N	KCNH8_ENST00000537696.1_Missense_Mutation_p.K41N	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	400					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGTTGGGAAAGAGACTGGAAT	0.453																																					NSCLC(124;1625 1765 8018 24930 42026)												0													183.0	192.0	189.0					3																	19479678		2203	4300	6503	SO:0001583	missense	131096			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1200G>C	3.37:g.19479678G>C	ENSP00000328813:p.Lys400Asn		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS	p.K400N	ENST00000328405.2	37	c.1200	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986872	0.74589	.	.	ENSG00000183960	ENST00000328405;ENST00000537696	D;D	0.99836	-5.04;-7.05	5.78	4.8	0.61643	Ion transport (1);	0.000000	0.32563	U	0.005936	D	0.99158	0.9709	L	0.31476	0.935	0.48901	D	0.999726	D;B;B	0.63046	0.992;0.425;0.425	P;B;P	0.57009	0.811;0.3;0.529	D	0.96498	0.9369	9	.	.	.	.	3.8125	0.08802	0.3291:0.0:0.6709:0.0	.	41;400;400	B7Z2I7;B7Z398;Q96L42	.;.;KCNH8_HUMAN	N	400;41	ENSP00000328813:K400N;ENSP00000446294:K41N	.	K	+	3	2	KCNH8	19454682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.340000	0.65958	2.732000	0.93576	0.555000	0.69702	AAG	KCNH8	-	pfam_Ion_trans_dom		0.453	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	HGNC	protein_coding	OTTHUMT00000252139.2	G	NM_144633		19479678	+1	no_errors	ENST00000328405	ensembl	human	known	70_37	missense	SNP	1.000	C
KCNJ5	3762	genome.wustl.edu	37	11	128781607	128781607	+	Missense_Mutation	SNP	G	G	A	rs148355179	byFrequency	TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:128781607G>A	ENST00000338350.4	+	3	791	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	KCNJ5_ENST00000533599.1_Missense_Mutation_p.E147K|KCNJ5_ENST00000529694.1_Missense_Mutation_p.E147K			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	147					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.E147K(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	CATTGAGACCGAAACAACCAT	0.527																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)												1	Substitution - Missense(1)	large_intestine(1)						G	LYS/GLU	0,4402		0,0,2201	152.0	149.0	150.0		439	5.5	0.5	11	dbSNP_134	150	1,8593	1.2+/-3.3	0,1,4296	no	missense	KCNJ5	NM_000890.3	56	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	147/420	128781607	1,12995	2201	4297	6498	SO:0001583	missense	3762			D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.439G>A	11.37:g.128781607G>A	ENSP00000339960:p.Glu147Lys		B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4	p.E147K	ENST00000338350.4	37	c.439	CCDS8479.1	11	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602563	0.66445	0.0	1.16E-4	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.95788	-3.81;-3.81;-3.81	5.46	5.46	0.80206	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.97986	0.9337	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98671	1.0688	10	0.87932	D	0	.	19.3054	0.94161	0.0:0.0:1.0:0.0	.	147	P48544	IRK5_HUMAN	K	147	ENSP00000433295:E147K;ENSP00000339960:E147K;ENSP00000434266:E147K	ENSP00000339960:E147K	E	+	1	0	KCNJ5	128286817	1.000000	0.71417	0.545000	0.28153	0.070000	0.16714	9.869000	0.99810	2.556000	0.86216	0.561000	0.74099	GAA	KCNJ5	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir		0.527	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	KCNJ5	HGNC	protein_coding	OTTHUMT00000386239.1	G	NM_000890		128781607	+1	no_errors	ENST00000529694	ensembl	human	known	70_37	missense	SNP	1.000	A
KCNK16	83795	genome.wustl.edu	37	6	39282978	39282978	+	Intron	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:39282978C>G	ENST00000373229.5	-	6	816				KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000425054.2_Missense_Mutation_p.W297C|KCNK16_ENST00000373227.4_Intron|KCNK17_ENST00000373231.4_5'Flank|KCNK17_ENST00000453413.2_5'Flank	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16						potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						GCCAAAATTTCCAGGCCCCGG	0.577																																																	0													67.0	70.0	69.0					6																	39282978		692	1591	2283	SO:0001627	intron_variant	83795			AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.803-73G>C	6.37:g.39282978C>G			B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl	p.W297C	ENST00000373229.5	37	c.891	CCDS4843.1	6	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535661	0.27475	.	.	ENSG00000095981	ENST00000425054	T	0.19105	2.17	2.85	-4.22	0.03800	.	.	.	.	.	T	0.04588	0.0125	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44034	-0.9354	8	0.87932	D	0	.	6.6491	0.22951	0.0:0.2345:0.5391:0.2265	.	297	Q96T55-4	.	C	297	ENSP00000391498:W297C	ENSP00000391498:W297C	W	-	3	0	KCNK16	39390956	0.000000	0.05858	0.000000	0.03702	0.182000	0.23217	-0.154000	0.10130	-1.107000	0.03004	0.467000	0.42956	TGG	KCNK16	-	NULL		0.577	KCNK16-001	KNOWN	basic|CCDS	protein_coding	KCNK16	HGNC	protein_coding	OTTHUMT00000040452.2	C	NM_032115		39282978	-1	no_errors	ENST00000425054	ensembl	human	known	70_37	missense	SNP	0.000	G
KDELR3	11015	genome.wustl.edu	37	22	38877382	38877382	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr22:38877382G>A	ENST00000216014.4	+	4	689	c.517G>A	c.(517-519)Gag>Aag	p.E173K	KDELR3_ENST00000471268.1_3'UTR|KDELR3_ENST00000409006.3_Missense_Mutation_p.E173K	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	173					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					GTACCAGACTGAGAATTTCTA	0.478																																					Ovarian(11;103 529 24120 28493 32980)												0													160.0	142.0	148.0					22																	38877382		2203	4300	6503	SO:0001583	missense	11015			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520	ENST00000216014.4:c.517G>A	22.37:g.38877382G>A	ENSP00000216014:p.Glu173Lys		A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation	SNP	pfam_ER_ret_rcpt,superfamily_Cyt_c_oxidase_su2-like_TM_dom,prints_ER_ret_rcpt	p.E173K	ENST00000216014.4	37	c.517	CCDS13972.1	22	.	.	.	.	.	.	.	.	.	.	G	34	5.307001	0.95629	.	.	ENSG00000100196	ENST00000216014;ENST00000409006	T;T	0.80033	-1.33;-1.33	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.90587	0.7049	H	0.96916	3.905	0.80722	D	1	P;P	0.44776	0.843;0.779	P;P	0.48873	0.558;0.593	D	0.93088	0.6497	10	0.54805	T	0.06	-11.1028	18.4255	0.90607	0.0:0.0:1.0:0.0	.	173;173	O43731;O43731-2	ERD23_HUMAN;.	K	173	ENSP00000216014:E173K;ENSP00000386918:E173K	ENSP00000216014:E173K	E	+	1	0	KDELR3	37207328	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	9.657000	0.98554	2.595000	0.87683	0.650000	0.86243	GAG	KDELR3	-	prints_ER_ret_rcpt		0.478	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELR3	HGNC	protein_coding	OTTHUMT00000331474.1	G			38877382	+1	no_errors	ENST00000409006	ensembl	human	known	70_37	missense	SNP	1.000	A
KDM5C	8242	genome.wustl.edu	37	X	53228252	53228252	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:53228252G>C	ENST00000375401.3	-	15	2682	c.2150C>G	c.(2149-2151)tCa>tGa	p.S717*	KDM5C_ENST00000375379.3_Nonsense_Mutation_p.S717*|KDM5C_ENST00000465402.1_5'Flank|KDM5C_ENST00000452825.3_Nonsense_Mutation_p.S650*|KDM5C_ENST00000375383.3_Nonsense_Mutation_p.S676*|KDM5C_ENST00000404049.3_Nonsense_Mutation_p.S716*	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	717					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.S717L(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GGCCAGGGCTGACAGGAAACA	0.562			"""N, F, S"""		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	1	Substitution - Missense(1)	breast(1)											168.0	129.0	142.0					X																	53228252		2203	4300	6503	SO:0001587	stop_gained	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.2150C>G	X.37:g.53228252G>C	ENSP00000364550:p.Ser717*		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Nonsense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.S717*	ENST00000375401.3	37	c.2150	CCDS14351.1	X	.	.	.	.	.	.	.	.	.	.	g	45	11.358928	0.99551	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.4584	14.2463	0.65990	0.0:0.0:1.0:0.0	.	.	.	.	X	650;717;716;717;676	.	ENSP00000364528:S717X	S	-	2	0	KDM5C	53244977	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.735000	0.98825	1.935000	0.56089	0.519000	0.50382	TCA	KDM5C	-	pfam_Znf_C5HC2		0.562	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	HGNC	protein_coding	OTTHUMT00000056737.2	G	NM_004187		53228252	-1	no_errors	ENST00000375401	ensembl	human	known	70_37	nonsense	SNP	1.000	C
KIF16B	55614	genome.wustl.edu	37	20	16360067	16360067	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr20:16360067G>A	ENST00000354981.2	-	19	2737	c.2580C>T	c.(2578-2580)atC>atT	p.I860I	KIF16B_ENST00000408042.1_Silent_p.I860I|KIF16B_ENST00000378003.2_Silent_p.I86I|KIF16B_ENST00000355755.3_Silent_p.I860I	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	860	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AACACTCTAGGATCTCCTGTT	0.408																																																	0													149.0	145.0	146.0					20																	16360067		2203	4300	6503	SO:0001819	synonymous_variant	55614			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2580C>T	20.37:g.16360067G>A			A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I860	ENST00000354981.2	37	c.2580	CCDS13122.1	20																																																																																			KIF16B	-	NULL		0.408	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	G	NM_017683		16360067	-1	no_errors	ENST00000408042	ensembl	human	known	70_37	silent	SNP	0.106	A
KIF26A	26153	genome.wustl.edu	37	14	104641721	104641721	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:104641721G>A	ENST00000423312.2	+	12	2596	c.2596G>A	c.(2596-2598)Gga>Aga	p.G866R	KIF26A_ENST00000315264.7_Missense_Mutation_p.G727R	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	866					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGGCACCGACGGAGCTCAGGC	0.716																																																	0													11.0	15.0	14.0					14																	104641721		1980	4126	6106	SO:0001583	missense	26153			AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.2596G>A	14.37:g.104641721G>A	ENSP00000388241:p.Gly866Arg		Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G866R	ENST00000423312.2	37	c.2596	CCDS45171.1	14	.	.	.	.	.	.	.	.	.	.	G	6.438	0.449014	0.12223	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.77358	-1.09;-1.09	3.61	-0.96	0.10340	.	.	.	.	.	T	0.58935	0.2157	L	0.40543	1.245	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.35871	-0.9771	9	0.13853	T	0.58	.	0.5044	0.00585	0.2249:0.2815:0.2667:0.2269	.	866	Q9ULI4	KI26A_HUMAN	R	866;727	ENSP00000388241:G866R;ENSP00000325452:G727R	ENSP00000325452:G727R	G	+	1	0	KIF26A	103711474	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.821000	0.27338	0.155000	0.19261	0.462000	0.41574	GGA	KIF26A	-	NULL		0.716	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIF26A	HGNC	protein_coding	OTTHUMT00000414356.1	G			104641721	+1	no_errors	ENST00000423312	ensembl	human	known	70_37	missense	SNP	0.000	A
KIF9	64147	genome.wustl.edu	37	3	47281406	47281406	+	Intron	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:47281406C>T	ENST00000265529.3	-	18	2605				KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000487440.1_Splice_Site|KIF9_ENST00000444589.2_Intron|KIF9_ENST00000335044.2_Intron|KIF9_ENST00000452770.2_Intron|KIF9_ENST00000352910.4_Intron			Q9HAQ2	KIF9_HUMAN	kinesin family member 9						ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGTTTCCTGTCTGGAAGAAGA	0.498																																					Colon(44;962 1147 15977 24541)												0													98.0	93.0	95.0					3																	47281406		2203	4300	6503	SO:0001627	intron_variant	64147			AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1924+884G>A	3.37:g.47281406C>T			Q86Z28|Q9H8A4	Splice_Site	SNP	-	NULL	ENST00000265529.3	37	c.NULL	CCDS2752.1	3																																																																																			KIF9	-	-		0.498	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF9	HGNC	protein_coding	OTTHUMT00000257475.2	C			47281406	-1	no_errors	ENST00000487440	ensembl	human	known	70_37	splice_site	SNP	0.004	T
KLHL1	57626	genome.wustl.edu	37	13	70681766	70681766	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr13:70681766G>A	ENST00000377844.4	-	1	825	c.66C>T	c.(64-66)ttC>ttT	p.F22F	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000424524.1_RNA|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	22					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ACGGGTGGCTGAAGAGTTTCC	0.622																																																	0													26.0	31.0	30.0					13																	70681766		2203	4300	6503	SO:0001819	synonymous_variant	57626			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.66C>T	13.37:g.70681766G>A			A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.F22	ENST00000377844.4	37	c.66	CCDS9445.1	13																																																																																			KLHL1	-	NULL		0.622	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	G	NM_020866		70681766	-1	no_errors	ENST00000377844	ensembl	human	known	70_37	silent	SNP	1.000	A
KLHL28	54813	genome.wustl.edu	37	14	45403317	45403317	+	Splice_Site	SNP	C	C	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:45403317C>A	ENST00000396128.4	-	3	1463		c.e3+1		KLHL28_ENST00000355081.2_Splice_Site	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28											breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAGTTAAATACCTGTTCATGT	0.353																																																	0													48.0	46.0	47.0					14																	45403317		2203	4300	6503	SO:0001630	splice_region_variant	54813			AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.1343+1G>T	14.37:g.45403317C>A			Q0VAL5	Splice_Site	SNP	-	e2+1	ENST00000396128.4	37	c.1343+1	CCDS9680.1	14	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250676	0.80135	.	.	ENSG00000179454	ENST00000396128;ENST00000355081	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1559	0.93510	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KLHL28	44473067	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.173000	0.77612	2.612000	0.88384	0.557000	0.71058	.	KLHL28	-	-		0.353	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL28	HGNC	protein_coding	OTTHUMT00000276790.3	C		Intron	45403317	-1	no_errors	ENST00000396128	ensembl	human	known	70_37	splice_site	SNP	1.000	A
KRT27	342574	genome.wustl.edu	37	17	38933324	38933324	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:38933324G>A	ENST00000301656.3	-	8	1347	c.1307C>T	c.(1306-1308)tCa>tTa	p.S436L	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				AACTCTGGATGAGAGAACTTT	0.408																																																	0													119.0	121.0	120.0					17																	38933324		2203	4300	6503	SO:0001583	missense	342574			AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.1307C>T	17.37:g.38933324G>A	ENSP00000301656:p.Ser436Leu			Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.S436L	ENST00000301656.3	37	c.1307	CCDS11375.1	17	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109197	0.77096	.	.	ENSG00000171446	ENST00000301656	D	0.85861	-2.04	5.66	4.67	0.58626	.	0.223016	0.32120	N	0.006554	D	0.90937	0.7151	M	0.90650	3.135	0.39796	D	0.972501	P	0.41643	0.758	P	0.49451	0.611	D	0.92980	0.6405	10	0.87932	D	0	.	13.8664	0.63592	0.0:0.0:0.846:0.154	.	436	Q7Z3Y8	K1C27_HUMAN	L	436	ENSP00000301656:S436L	ENSP00000301656:S436L	S	-	2	0	KRT27	36186850	0.765000	0.28485	0.378000	0.26068	0.967000	0.64934	2.101000	0.41787	1.476000	0.48215	0.650000	0.86243	TCA	KRT27	-	NULL		0.408	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT27	HGNC	protein_coding	OTTHUMT00000257216.1	G	NM_181537		38933324	-1	no_errors	ENST00000301656	ensembl	human	known	70_37	missense	SNP	0.871	A
KRT40	125115	genome.wustl.edu	37	17	39137270	39137270	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:39137270C>G	ENST00000398486.2	-	6	981	c.821G>C	c.(820-822)aGa>aCa	p.R274T	KRT40_ENST00000377755.4_Missense_Mutation_p.R274T	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	274	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TTCAGCTTCTCTGCGATTGTT	0.502																																																	0													198.0	198.0	198.0					17																	39137270		1996	4190	6186	SO:0001583	missense	125115			AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.821G>C	17.37:g.39137270C>G	ENSP00000381500:p.Arg274Thr		Q6IFU5	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.R274T	ENST00000398486.2	37	c.821	CCDS42320.1	17	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527515	0.44969	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.88741	-2.42;-2.42	5.4	4.44	0.53790	Filament (1);	0.000000	0.36628	N	0.002484	D	0.92945	0.7755	M	0.75264	2.295	0.21147	N	0.999775	P	0.52316	0.952	D	0.72625	0.978	D	0.86034	0.1515	10	0.72032	D	0.01	.	8.9219	0.35617	0.0:0.7684:0.0:0.2316	.	274	Q6A162	K1C40_HUMAN	T	274	ENSP00000366984:R274T;ENSP00000381500:R274T	ENSP00000366984:R274T	R	-	2	0	KRT40	36390796	0.000000	0.05858	0.986000	0.45419	0.483000	0.33249	-0.333000	0.07894	1.414000	0.47017	0.655000	0.94253	AGA	KRT40	-	pfam_F		0.502	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT40	HGNC	protein_coding	OTTHUMT00000257701.3	C	NM_182497		39137270	-1	no_errors	ENST00000377755	ensembl	human	known	70_37	missense	SNP	0.438	G
KRT85	3891	genome.wustl.edu	37	12	52756210	52756210	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:52756210C>T	ENST00000257901.3	-	7	1198	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	KRT85_ENST00000544265.1_Missense_Mutation_p.E163K	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	375	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGGCCGCCTCACCCTGCTGC	0.632																																																	0													29.0	29.0	29.0					12																	52756210		2202	4300	6502	SO:0001583	missense	3891			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.1123G>A	12.37:g.52756210C>T	ENSP00000257901:p.Glu375Lys		Q9NSB1	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.E375K	ENST00000257901.3	37	c.1123	CCDS8824.1	12	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638030	0.87760	.	.	ENSG00000135443	ENST00000257901;ENST00000544265	D;D	0.89270	-2.49;-2.49	4.95	4.95	0.65309	Filament (1);	0.101800	0.43260	D	0.000581	D	0.92938	0.7753	M	0.92555	3.32	0.46222	D	0.998933	B	0.24823	0.112	B	0.33799	0.17	D	0.92600	0.6090	10	0.66056	D	0.02	.	18.1966	0.89823	0.0:1.0:0.0:0.0	.	375	P78386	KRT85_HUMAN	K	375;163	ENSP00000257901:E375K;ENSP00000440240:E163K	ENSP00000257901:E375K	E	-	1	0	KRT85	51042477	1.000000	0.71417	0.900000	0.35374	0.840000	0.47671	7.818000	0.86416	2.309000	0.77851	0.561000	0.74099	GAG	KRT85	-	pfam_F,superfamily_Prefoldin,prints_Keratin_II		0.632	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT85	HGNC	protein_coding	OTTHUMT00000405184.1	C	NM_002283		52756210	-1	no_errors	ENST00000257901	ensembl	human	known	70_37	missense	SNP	1.000	T
KRT79	338785	genome.wustl.edu	37	12	53227956	53227956	+	Missense_Mutation	SNP	C	C	T	rs371852565		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:53227956C>T	ENST00000330553.5	-	1	123	c.89G>A	c.(88-90)cGc>cAc	p.R30H		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	30	Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAAGCTGGTGCGGGCCTGGGA	0.642																																																	0													34.0	35.0	35.0					12																	53227956		2203	4299	6502	SO:0001583	missense	338785			AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.89G>A	12.37:g.53227956C>T	ENSP00000328358:p.Arg30His		Q6P465|Q7Z793	Missense_Mutation	SNP	pfam_F,superfamily_STAT_TF_coiled-coil,prints_Keratin_II	p.R30H	ENST00000330553.5	37	c.89	CCDS8839.1	12	.	.	.	.	.	.	.	.	.	.	C	2.753	-0.259579	0.05791	.	.	ENSG00000185640	ENST00000330553	T	0.75367	-0.93	3.98	-7.96	0.01144	.	0.861244	0.10047	N	0.722716	T	0.61476	0.2350	L	0.28054	0.825	0.09310	N	0.999992	B	0.02656	0.0	B	0.04013	0.001	T	0.20140	-1.0284	10	0.44086	T	0.13	.	20.7633	0.99720	0.0:0.8226:0.0:0.1774	.	30	Q5XKE5	K2C79_HUMAN	H	30	ENSP00000328358:R30H	ENSP00000328358:R30H	R	-	2	0	KRT79	51514223	0.000000	0.05858	0.005000	0.12908	0.058000	0.15608	-3.249000	0.00540	-2.020000	0.00940	-1.202000	0.01658	CGC	KRT79	-	NULL		0.642	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT79	HGNC	protein_coding	OTTHUMT00000406376.1	C	NM_175834		53227956	-1	no_errors	ENST00000330553	ensembl	human	known	70_37	missense	SNP	0.028	T
LAMB1	3912	genome.wustl.edu	37	7	107626528	107626528	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:107626528C>T	ENST00000222399.6	-	7	845	c.615G>A	c.(613-615)gtG>gtA	p.V205V	LAMB1_ENST00000393560.1_Silent_p.V205V|LAMB1_ENST00000393561.1_Silent_p.V229V	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	205	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CACGAAATATCACCTAAAAAT	0.323																																																	0													107.0	105.0	105.0					7																	107626528		2203	4300	6503	SO:0001819	synonymous_variant	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.615G>A	7.37:g.107626528C>T			Q14D91	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.V205	ENST00000222399.6	37	c.615	CCDS5750.1	7																																																																																			LAMB1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.323	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	HGNC	protein_coding	OTTHUMT00000314584.1	C	NM_002291		107626528	-1	no_errors	ENST00000222399	ensembl	human	known	70_37	silent	SNP	1.000	T
LAMTOR5	10542	genome.wustl.edu	37	1	110950260	110950260	+	5'UTR	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:110950260C>G	ENST00000602318.1	-	0	70				LAMTOR5-AS1_ENST00000457535.1_RNA|LAMTOR5-AS1_ENST00000598454.1_RNA|LAMTOR5_ENST00000602858.1_5'Flank|LAMTOR5-AS1_ENST00000609244.1_RNA|LAMTOR5-AS1_ENST00000610148.1_RNA|LAMTOR5-AS1_ENST00000609709.1_RNA|LAMTOR5-AS1_ENST00000608067.1_RNA|LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5-AS1_ENST00000608602.1_RNA|LAMTOR5-AS1_ENST00000608486.1_RNA|LAMTOR5-AS1_ENST00000590826.1_RNA|LAMTOR5-AS1_ENST00000587691.1_RNA|LAMTOR5-AS1_ENST00000608499.1_RNA|LAMTOR5_ENST00000483260.1_5'UTR|LAMTOR5_ENST00000474861.2_5'UTR|LAMTOR5-AS1_ENST00000608253.1_RNA|LAMTOR5-AS1_ENST00000609512.1_RNA|LAMTOR5_ENST00000256644.4_Missense_Mutation_p.E77Q			O43504	LTOR5_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5						cellular response to amino acid stimulus (GO:0071230)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)|response to virus (GO:0009615)|viral genome replication (GO:0019079)	cytosol (GO:0005829)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)											ACCGACCACTCCGGCTCAGAA	0.662																																																	0													71.0	61.0	64.0					1																	110950260		2203	4300	6503	SO:0001623	5_prime_UTR_variant	10542			AF029890	CCDS824.1	1p12	2012-09-24	2012-09-24	2012-09-24	ENSG00000134248	ENSG00000134248			17955	protein-coding gene	gene with protein product	"""HBx-interacting protein"", ""hepatitis B virus x-interacting protein (9.6kD)"""	608521	"""hepatitis B virus x interacting protein"""	HBXIP		9499022, 22980980	Standard	NM_006402		Approved	XIP, MGC71071	uc001dzr.3	O43504	OTTHUMG00000011568	ENST00000602318.1:c.-18G>C	1.37:g.110950260C>G			Q6IBD8	Missense_Mutation	SNP	NULL	p.E77Q	ENST00000602318.1	37	c.229		1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711603	0.30322	.	.	ENSG00000134248	ENST00000256644	.	.	.	3.94	1.07	0.20283	.	.	.	.	.	T	0.17408	0.0418	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22730	-1.0208	5	0.39692	T	0.17	0.7469	6.1965	0.20553	0.0:0.5726:0.0:0.4274	.	.	.	.	Q	77	.	ENSP00000256644:E77Q	E	-	1	0	HBXIP	110751783	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.281000	0.18810	0.261000	0.21753	-0.253000	0.11424	GAG	LAMTOR5	-	NULL		0.662	LAMTOR5-007	NOVEL	basic|appris_principal	protein_coding	LAMTOR5	HGNC	protein_coding	OTTHUMT00000467909.1	C	NM_006402		110950260	-1	no_errors	ENST00000256644	ensembl	human	known	70_37	missense	SNP	0.000	G
LARP1	23367	genome.wustl.edu	37	5	154179283	154179283	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:154179283G>A	ENST00000336314.4	+	9	1303	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	504	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAACTGCCCTGAATTTGTTCC	0.517																																																	0													160.0	157.0	158.0					5																	154179283		2203	4300	6503	SO:0001583	missense	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1279G>A	5.37:g.154179283G>A	ENSP00000336721:p.Glu427Lys		O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.E427K	ENST00000336314.4	37	c.1279	CCDS4328.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.813253	0.96975	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248;ENST00000523163;ENST00000518742	T;T;T;T;T	0.51325	1.7;1.21;1.26;0.71;0.73	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.987;0.996	T	0.66858	-0.5817	10	0.37606	T	0.19	-24.1627	20.8794	0.99867	0.0:0.0:1.0:0.0	.	504;427	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	K	427;504;299;212;111	ENSP00000336721:E427K;ENSP00000428589:E504K;ENSP00000429904:E299K;ENSP00000430438:E212K;ENSP00000431072:E111K	ENSP00000336721:E427K	E	+	1	0	LARP1	154159476	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	9.787000	0.99055	2.941000	0.99782	0.655000	0.94253	GAA	LARP1	-	NULL		0.517	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	HGNC	protein_coding	OTTHUMT00000252509.1	G	NM_033551		154179283	+1	no_errors	ENST00000336314	ensembl	human	known	70_37	missense	SNP	1.000	A
LDB3	11155	genome.wustl.edu	37	10	88441244	88441244	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:88441244G>C	ENST00000361373.4	+	4	394	c.373G>C	c.(373-375)Gag>Cag	p.E125Q	LDB3_ENST00000263066.6_Intron|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000372056.4_Missense_Mutation_p.E125Q|LDB3_ENST00000542786.1_Missense_Mutation_p.E125Q|LDB3_ENST00000429277.2_Missense_Mutation_p.E125Q|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000372066.3_Intron|LDB3_ENST00000310944.6_Missense_Mutation_p.E125Q	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CCCCAGCCCTGAGGCGAGGGC	0.706																																																	0													37.0	41.0	40.0					10																	88441244		2202	4295	6497	SO:0001583	missense	11155			AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.373G>C	10.37:g.88441244G>C	ENSP00000355296:p.Glu125Gln			Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.E125Q	ENST00000361373.4	37	c.373	CCDS7377.1	10	.	.	.	.	.	.	.	.	.	.	G	2.896	-0.228580	0.06022	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000372056;ENST00000310944;ENST00000361373;ENST00000542786	T;T;T;T;T	0.51574	0.9;1.13;1.29;0.7;1.3	4.89	1.97	0.26223	.	.	.	.	.	T	0.31857	0.0810	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B	0.33583	0.047;0.27;0.418;0.047;0.045	B;B;B;B;B	0.33690	0.017;0.168;0.138;0.027;0.019	T	0.14227	-1.0480	9	0.25751	T	0.34	.	8.598	0.33727	0.3754:0.0:0.6246:0.0	.	125;125;125;125;125	B4E3K3;F5H0C2;O75112-4;O75112;O75112-5	.;.;.;LDB3_HUMAN;.	Q	125	ENSP00000401437:E125Q;ENSP00000361126:E125Q;ENSP00000311913:E125Q;ENSP00000355296:E125Q;ENSP00000438866:E125Q	ENSP00000311913:E125Q	E	+	1	0	LDB3	88431224	0.894000	0.30519	0.461000	0.27105	0.184000	0.23303	0.831000	0.27476	0.579000	0.29504	0.563000	0.77884	GAG	LDB3	-	NULL		0.706	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LDB3	HGNC	protein_coding	OTTHUMT00000049160.2	G			88441244	+1	no_errors	ENST00000429277	ensembl	human	known	70_37	missense	SNP	0.094	C
LIG4	3981	genome.wustl.edu	37	13	108862394	108862394	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr13:108862394G>C	ENST00000356922.4	-	2	1495	c.1223C>G	c.(1222-1224)gCt>gGt	p.A408G	LIG4_ENST00000405925.1_Missense_Mutation_p.A408G|LIG4_ENST00000442234.1_Missense_Mutation_p.A408G	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	408					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CTTAGTATGAGCTTGTGTTTT	0.353								Non-homologous end-joining																																									0													112.0	114.0	113.0					13																	108862394		2203	4299	6502	SO:0001583	missense	3981			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1223C>G	13.37:g.108862394G>C	ENSP00000349393:p.Ala408Gly		Q8IY66|Q8TEU5	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.A408G	ENST00000356922.4	37	c.1223	CCDS9508.1	13	.	.	.	.	.	.	.	.	.	.	G	1.616	-0.522805	0.04141	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	D;D;D	0.84516	-1.86;-1.86;-1.86	5.49	4.64	0.57946	DNA ligase, ATP-dependent, central (2);	0.053286	0.85682	D	0.000000	T	0.76492	0.3995	N	0.25485	0.75	0.47698	D	0.999499	B	0.17852	0.024	B	0.24006	0.05	T	0.69038	-0.5251	10	0.10902	T	0.67	.	15.3678	0.74538	0.0:0.14:0.86:0.0	.	408	P49917	DNLI4_HUMAN	G	408	ENSP00000385955:A408G;ENSP00000402030:A408G;ENSP00000349393:A408G	ENSP00000349393:A408G	A	-	2	0	LIG4	107660395	1.000000	0.71417	0.991000	0.47740	0.430000	0.31655	4.554000	0.60760	1.294000	0.44707	-0.189000	0.12847	GCT	LIG4	-	pfam_DNA_ligase_ATP-dep_cent,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep		0.353	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG4	HGNC	protein_coding	OTTHUMT00000045738.4	G	NM_002312		108862394	-1	no_errors	ENST00000356922	ensembl	human	known	70_37	missense	SNP	1.000	C
LILRA1	11024	genome.wustl.edu	37	19	55107366	55107366	+	Silent	SNP	G	G	A	rs140515098	byFrequency	TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:55107366G>A	ENST00000251372.3	+	6	1106	c.924G>A	c.(922-924)tcG>tcA	p.S308S	LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	308	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCGAGTGGTCGGCCCCCAGCG	0.682																																																	0								G		2,4398		0,2,2198	27.0	40.0	36.0		924	-1.9	0.0	19	dbSNP_134	36	7,8591		0,7,4292	no	coding-synonymous	LILRA1	NM_006863.1		0,9,6490	AA,AG,GG		0.0814,0.0455,0.0692		308/490	55107366	9,12989	2200	4299	6499	SO:0001819	synonymous_variant	11024			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.924G>A	19.37:g.55107366G>A			O75018|Q3MJA6	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.S308	ENST00000251372.3	37	c.924	CCDS12901.1	19																																																																																			LILRA1	-	smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt		0.682	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA1	HGNC	protein_coding	OTTHUMT00000140807.2	G	NM_006863		55107366	+1	no_errors	ENST00000251372	ensembl	human	known	70_37	silent	SNP	0.000	A
LINC00324	284029	genome.wustl.edu	37	17	8126197	8126197	+	lincRNA	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:8126197G>A	ENST00000315707.3	-	0	627				RP11-849F2.8_ENST00000602405.1_lincRNA	NR_026951.1				long intergenic non-protein coding RNA 324																		cccgaagcgagaatcataccc	0.567																																																	0																																												284029			AK092109		17p13.1	2012-10-12	2011-08-10	2011-08-10	ENSG00000178977	ENSG00000178977		"""Long non-coding RNAs"""	26628	non-coding RNA	RNA, long non-coding			"""chromosome 17 open reading frame 44"", ""non-protein coding RNA 324"""	C17orf44, NCRNA00324			Standard	NR_026951		Approved	FLJ34790, MGC104931	uc002gkp.4		OTTHUMG00000132866		17.37:g.8126197G>A				RNA	SNP	-	NULL	ENST00000315707.3	37	NULL		17																																																																																			LINC00324	-	-		0.567	LINC00324-001	KNOWN	basic	lincRNA	LINC00324	HGNC	lincRNA	OTTHUMT00000256341.1	G			8126197	-1	no_errors	ENST00000315707	ensembl	human	known	70_37	rna	SNP	1.000	A
LINC00326	285735	genome.wustl.edu	37	6	133427266	133427266	+	lincRNA	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:133427266G>A	ENST00000457339.1	+	0	2064									long intergenic non-protein coding RNA 326																		ATTTAAAGATGATCAGAAGAC	0.403																																																	0													86.0	73.0	77.0					6																	133427266		692	1591	2283			285735					6q23.2	2012-10-12	2011-08-10	2011-08-10	ENSG00000231023	ENSG00000231023		"""Long non-coding RNAs"""	41926	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 326"""	NCRNA00326			Standard	NR_026969		Approved		uc003qdz.3		OTTHUMG00000015597		6.37:g.133427266G>A				RNA	SNP	-	NULL	ENST00000457339.1	37	NULL		6																																																																																			LINC00326	-	-		0.403	LINC00326-002	KNOWN	basic	lincRNA	LINC00326	HGNC	lincRNA	OTTHUMT00000317882.1	G	NR_026969		133427266	+1	no_errors	ENST00000434443	ensembl	human	known	70_37	rna	SNP	0.000	A
LMOD2	442721	genome.wustl.edu	37	7	123296144	123296144	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:123296144G>C	ENST00000458573.2	+	1	284	c.127G>C	c.(127-129)Gac>Cac	p.D43H	LMOD2_ENST00000456238.2_Missense_Mutation_p.D43H	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	43	Glu-rich.					cytoskeleton (GO:0005856)											CATTGAACCTGACCGCAACCT	0.532																																																	0													53.0	57.0	56.0					7																	123296144		1935	4126	6061	SO:0001583	missense	442721			AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.127G>C	7.37:g.123296144G>C	ENSP00000411932:p.Asp43His		A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	pfam_Tropomodulin,pfscan_WH2_dom	p.D43H	ENST00000458573.2	37	c.127	CCDS47693.1	7	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988891	0.74589	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074;ENST00000456238	T;T	0.36340	1.26;1.26	5.77	4.79	0.61399	.	0.000000	0.38005	N	0.001850	T	0.54095	0.1837	M	0.78285	2.405	0.54753	D	0.999986	D	0.53745	0.962	P	0.59546	0.859	T	0.57625	-0.7779	10	0.87932	D	0	-19.5321	9.8136	0.40838	0.1795:0.0:0.8205:0.0	.	43	Q6P5Q4	LMOD2_HUMAN	H	43	ENSP00000411932:D43H;ENSP00000398975:D43H	ENSP00000405123:D43H	D	+	1	0	LMOD2	123083380	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.779000	0.68948	2.724000	0.93272	0.561000	0.74099	GAC	LMOD2	-	pfam_Tropomodulin		0.532	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMOD2	HGNC	protein_coding	OTTHUMT00000348525.1	G			123296144	+1	no_errors	ENST00000458573	ensembl	human	known	70_37	missense	SNP	0.998	C
LMOD3	56203	genome.wustl.edu	37	3	69168914	69168914	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:69168914C>T	ENST00000420581.2	-	2	771	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	LMOD3_ENST00000475434.1_Missense_Mutation_p.E198K|LMOD3_ENST00000489031.1_Missense_Mutation_p.E198K	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	198						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TCTCTCTGTTCTTTGAATGCT	0.398																																																	0													109.0	96.0	100.0					3																	69168914		1923	4130	6053	SO:0001583	missense	56203			AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.592G>A	3.37:g.69168914C>T	ENSP00000414670:p.Glu198Lys		B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	pfam_Tropomodulin	p.E198K	ENST00000420581.2	37	c.592	CCDS46862.1	3	.	.	.	.	.	.	.	.	.	.	C	0.592	-0.832505	0.02713	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	D;D;D	0.91686	-2.89;-2.89;-2.89	5.34	2.48	0.30137	.	0.784756	0.12223	N	0.488189	D	0.84714	0.5533	L	0.32530	0.975	0.09310	N	0.999996	B	0.28713	0.22	B	0.24541	0.054	T	0.66870	-0.5814	10	0.11182	T	0.66	-4.2115	9.9442	0.41598	0.0:0.5288:0.3996:0.0716	.	198	Q0VAK6	LMOD3_HUMAN	K	198	ENSP00000414670:E198K;ENSP00000417210:E198K;ENSP00000418645:E198K	ENSP00000414670:E198K	E	-	1	0	LMOD3	69251604	0.000000	0.05858	0.015000	0.15790	0.098000	0.18820	0.373000	0.20484	0.212000	0.20703	-0.282000	0.10007	GAA	LMOD3	-	NULL		0.398	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMOD3	HGNC	protein_coding	OTTHUMT00000352138.1	C	XM_067529		69168914	-1	no_errors	ENST00000420581	ensembl	human	known	70_37	missense	SNP	0.100	T
NPIPA5	100288332	genome.wustl.edu	37	16	18471002	18471002	+	5'UTR	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:18471002C>T	ENST00000546267.1	-	0	510				RP11-1212A22.4_ENST00000545114.1_5'Flank|RP11-1212A22.4_ENST00000427999.2_5'Flank																							GCGCCGGAAGCGCAACAGGGC	0.657																																																	0																																										SO:0001623	5_prime_UTR_variant	100288332																														ENST00000546267.1:c.-985G>A	16.37:g.18471002C>T				RNA	SNP	-	NULL	ENST00000546267.1	37	NULL		16																																																																																			PKD1P1	-	-		0.657	RP11-1212A22.4-007	KNOWN	basic	processed_transcript	LOC100288332	Uniprot_genename	protein_coding	OTTHUMT00000400304.1	C			18471002	-1	no_errors	ENST00000546267	ensembl	human	known	70_37	rna	SNP	0.990	T
LOC100507431	100507431	genome.wustl.edu	37	11	130732055	130732055	+	lincRNA	SNP	T	T	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:130732055T>G	ENST00000533812.2	-	0	698																											TTGGGAGACCTTGGGCGCCCT	0.617											OREG0021520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																												100507431																															11.37:g.130732055T>G		1582		RNA	SNP	-	NULL	ENST00000533812.2	37	NULL		11																																																																																			RP11-890B15.2	-	-		0.617	RP11-890B15.2-001	KNOWN	basic|exp_conf	lincRNA	LOC100507431	Clone_based_vega_gene	lincRNA	OTTHUMT00000385642.2	T			130732055	-1	no_errors	ENST00000533812	ensembl	human	known	70_37	rna	SNP	0.003	G
Unknown	0	genome.wustl.edu	37	1	243219565	243219565	+	IGR	SNP	T	T	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:243219565T>C								RP11-261C10.2 (7739 upstream) : RNU6-747P (24892 downstream)																							CAGAGGCTGTTCTCAAGTCAA	0.607																																																	0																																										SO:0001628	intergenic_variant	100996554																															1.37:g.243219565T>C				RNA	SNP	-	NULL		37	NULL		1																																																																																			RP11-261C10.3	-	-	0	0.607					LOC100996554	Clone_based_vega_gene			T			243219565	-1	no_errors	ENST00000418377	ensembl	human	known	70_37	rna	SNP	0.726	C
LINC01623	401242	genome.wustl.edu	37	6	28829695	28829695	+	lincRNA	SNP	A	A	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:28829695A>G	ENST00000440244.1	-	0	164					NR_033379.1																						TGAGAAGTAGAGGAATTGCAA	0.527																																																	0																																												401242																															6.37:g.28829695A>G				RNA	SNP	-	NULL	ENST00000440244.1	37	NULL		6																																																																																			XXbac-BPG308K3.6	-	-		0.527	XXbac-BPG308K3.6-001	KNOWN	basic	lincRNA	LOC401242	Clone_based_vega_gene	lincRNA	OTTHUMT00000192594.1	A			28829695	-1	no_errors	ENST00000440244	ensembl	human	known	70_37	rna	SNP	1.000	G
LOC653712	653712	genome.wustl.edu	37	3	128580474	128580474	+	RNA	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:128580474C>G	ENST00000498297.1	-	0	979				RP11-723O4.2_ENST00000480931.1_RNA|RP11-723O4.9_ENST00000567253.1_lincRNA	NR_034179.1																						ATTCTTCTCTCCTTGCTACTC	0.592																																																	0																																												653712																															3.37:g.128580474C>G				RNA	SNP	-	NULL	ENST00000498297.1	37	NULL		3																																																																																			RP11-723O4.2	-	-		0.592	RP11-723O4.2-001	KNOWN	basic	antisense	LOC653712	Clone_based_vega_gene	antisense	OTTHUMT00000357491.1	C			128580474	-1	no_errors	ENST00000480931	ensembl	human	known	70_37	rna	SNP	0.847	G
RFPL4AL1	729974	genome.wustl.edu	37	19	56283234	56283234	+	Missense_Mutation	SNP	G	G	A	rs563804580		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:56283234G>A	ENST00000341750.4	+	2	108	c.64G>A	c.(64-66)Gtg>Atg	p.V22M		NM_001277397.1	NP_001264326.1	F8VTS6	RFAL1_HUMAN	ret finger protein-like 4A-like 1	22							zinc ion binding (GO:0008270)										TGAAGAAGCCGTGCAACTGAA	0.458																																																	0																																										SO:0001583	missense	729974				CCDS59425.1	19q13.42	2013-02-22			ENSG00000229292	ENSG00000229292			45147	protein-coding gene	gene with protein product							Standard	NM_001277397		Approved		uc031rnc.1	F8VTS6	OTTHUMG00000165450	ENST00000341750.4:c.64G>A	19.37:g.56283234G>A	ENSP00000345151:p.Val22Met			Missense_Mutation	SNP	pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.V22M	ENST00000341750.4	37	c.64	CCDS59425.1	19	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.733790	0.00687	.	.	ENSG00000229292	ENST00000341750	T	0.10860	2.83	1.63	-2.27	0.06846	.	.	.	.	.	T	0.06416	0.0165	N	0.25789	0.76	.	.	.	.	.	.	.	.	.	T	0.46373	-0.9196	6	0.14252	T	0.57	-16.7921	5.7594	0.18190	0.4493:0.0:0.5507:0.0	.	.	.	.	M	22	ENSP00000345151:V22M	ENSP00000345151:V22M	V	+	1	0	CTD-2611O12.2	60975046	0.001000	0.12720	0.000000	0.03702	0.016000	0.09150	-0.173000	0.09854	-0.687000	0.05162	0.405000	0.27470	GTG	CTD-2611O12.2	-	pfscan_Znf_RING		0.458	RFPL4AL1-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	LOC729974	Clone_based_vega_gene	protein_coding	OTTHUMT00000384186.1	G			56283234	+1	no_errors	ENST00000341750	ensembl	human	novel	70_37	missense	SNP	0.000	A
LONP2	83752	genome.wustl.edu	37	16	48368183	48368183	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:48368183G>A	ENST00000285737.4	+	12	1945	c.1852G>A	c.(1852-1854)Gac>Aac	p.D618N	LONP2_ENST00000535754.1_Missense_Mutation_p.D574N	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGACACTACTGACTTGGCTCT	0.378																																																	0													147.0	138.0	141.0					16																	48368183		2200	4300	6500	SO:0001583	missense	83752			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1852G>A	16.37:g.48368183G>A	ENSP00000285737:p.Asp618Asn			Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon	p.D618N	ENST00000285737.4	37	c.1852	CCDS10734.1	16	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075683	0.36662	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	T;T	0.30182	1.54;1.54	5.79	5.79	0.91817	.	0.363985	0.33327	N	0.005037	T	0.25082	0.0609	L	0.29908	0.895	0.49582	D	0.999801	P;P	0.34462	0.454;0.454	B;B	0.24394	0.053;0.037	T	0.03051	-1.1078	10	0.51188	T	0.08	-19.2289	20.04	0.97581	0.0:0.0:1.0:0.0	.	574;618	B7ZKL7;Q86WA8	.;LONP2_HUMAN	N	618;347;574;574	ENSP00000285737:D618N;ENSP00000445426:D574N	ENSP00000285737:D618N	D	+	1	0	LONP2	46925684	1.000000	0.71417	0.867000	0.34043	0.114000	0.19823	7.573000	0.82421	2.733000	0.93635	0.655000	0.94253	GAC	LONP2	-	tigrfam_Pept_S16_lon		0.378	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP2	HGNC	protein_coding	OTTHUMT00000256839.2	G	NM_031490		48368183	+1	no_errors	ENST00000285737	ensembl	human	known	70_37	missense	SNP	0.996	A
LRRC66	339977	genome.wustl.edu	37	4	52861188	52861188	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:52861188G>C	ENST00000343457.3	-	4	2006	c.2000C>G	c.(1999-2001)tCa>tGa	p.S667*		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	667						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AGGAAAGACTGATGGGCCTGT	0.557																																																	0													83.0	81.0	81.0					4																	52861188		1995	4166	6161	SO:0001587	stop_gained	339977			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2000C>G	4.37:g.52861188G>C	ENSP00000341944:p.Ser667*			Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S667*	ENST00000343457.3	37	c.2000	CCDS43229.1	4	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113189	0.56398	.	.	ENSG00000188993	ENST00000343457	.	.	.	4.3	0.546	0.17196	.	0.837114	0.10294	N	0.692027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-2.8604	3.5082	0.07699	0.3824:0.0:0.4452:0.1724	.	.	.	.	X	667	.	ENSP00000341944:S667X	S	-	2	0	LRRC66	52555945	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.134000	0.10436	-0.046000	0.13446	-0.136000	0.14681	TCA	LRRC66	-	NULL		0.557	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC66	HGNC	protein_coding	OTTHUMT00000361473.1	G	NM_001024611		52861188	-1	no_errors	ENST00000343457	ensembl	human	known	70_37	nonsense	SNP	0.000	C
LRRIQ1	84125	genome.wustl.edu	37	12	85518053	85518053	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:85518053G>A	ENST00000393217.2	+	17	3824	c.3763G>A	c.(3763-3765)Gaa>Aaa	p.E1255K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1255										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTGTGCACGTGAAGGTGAGCC	0.458																																																	0													106.0	108.0	108.0					12																	85518053		2203	4300	6503	SO:0001583	missense	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3763G>A	12.37:g.85518053G>A	ENSP00000376910:p.Glu1255Lys		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.E1255K	ENST00000393217.2	37	c.3763	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214204	0.39102	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.58506	0.33	5.61	-1.72	0.08107	.	0.790692	0.11164	N	0.592721	T	0.41096	0.1144	L	0.27053	0.805	0.09310	N	1	B;B	0.21071	0.051;0.051	B;B	0.16722	0.016;0.016	T	0.19128	-1.0315	10	0.39692	T	0.17	.	10.5479	0.45070	0.4141:0.0:0.5859:0.0	.	1255;1230	Q96JM4;C9JI57	LRIQ1_HUMAN;.	K	1255;1230;1255	ENSP00000376910:E1255K	ENSP00000256007:E1255K	E	+	1	0	LRRIQ1	84042184	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.575000	0.23729	-0.730000	0.04869	0.585000	0.79938	GAA	LRRIQ1	-	NULL		0.458	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	G	NM_032165		85518053	+1	no_errors	ENST00000393217	ensembl	human	known	70_37	missense	SNP	0.000	A
LTBP2	4053	genome.wustl.edu	37	14	75078169	75078169	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:75078169C>G	ENST00000261978.4	-	1	865	c.479G>C	c.(478-480)cGa>cCa	p.R160P	LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.R160P	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	160					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GAGCCGCCCTCGCGGCGGGGT	0.731																																																	0													22.0	31.0	28.0					14																	75078169		1634	3328	4962	SO:0001583	missense	4053				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.479G>C	14.37:g.75078169C>G	ENSP00000261978:p.Arg160Pro		Q99907|Q9NS51	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.R160P	ENST00000261978.4	37	c.479	CCDS9831.1	14	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700236	0.68501	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.80566	-1.39;-1.38	3.09	3.09	0.35607	.	0.000000	0.29225	N	0.012778	T	0.79598	0.4473	M	0.67700	2.07	0.32422	N	0.549191	P	0.52842	0.956	P	0.46543	0.52	D	0.84531	0.0633	10	0.72032	D	0.01	.	9.8091	0.40812	0.0:1.0:0.0:0.0	.	160	Q14767	LTBP2_HUMAN	P	160	ENSP00000261978:R160P;ENSP00000451477:R160P	ENSP00000261978:R160P	R	-	2	0	LTBP2	74147922	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.715000	0.25822	1.739000	0.51704	0.462000	0.41574	CGA	LTBP2	-	NULL		0.731	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP2	HGNC	protein_coding	OTTHUMT00000413595.1	C	NM_000428		75078169	-1	no_errors	ENST00000261978	ensembl	human	known	70_37	missense	SNP	1.000	G
LYZL2	119180	genome.wustl.edu	37	10	30900895	30900895	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:30900895C>A	ENST00000375318.2	-	5	630	c.574G>T	c.(574-576)Gag>Tag	p.E192*		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	146					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				TAGGAAACCTCACAGTCTTTT	0.522																																																	0													301.0	277.0	285.0					10																	30900895		2203	4300	6503	SO:0001587	stop_gained	119180			AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.574G>T	10.37:g.30900895C>A	ENSP00000364467:p.Glu192*		Q6NZ69	Nonsense_Mutation	SNP	pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys	p.E192*	ENST00000375318.2	37	c.574	CCDS7167.2	10	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383942	0.25031	.	.	ENSG00000151033	ENST00000375318	.	.	.	1.9	1.9	0.25705	.	0.675597	0.14192	N	0.335285	.	.	.	.	.	.	0.27652	N	0.94738	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-10.9784	7.3004	0.26418	0.0:1.0:0.0:0.0	.	.	.	.	X	192	.	ENSP00000364467:E192X	E	-	1	0	LYZL2	30940901	0.936000	0.31750	0.766000	0.31476	0.075000	0.17131	1.233000	0.32648	1.360000	0.45960	0.313000	0.20887	GAG	LYZL2	-	superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22		0.522	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LYZL2	HGNC	protein_coding	OTTHUMT00000047434.1	C	NM_183058		30900895	-1	no_errors	ENST00000375318	ensembl	human	known	70_37	nonsense	SNP	0.895	A
MAB21L2	10586	genome.wustl.edu	37	4	151504776	151504776	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:151504776C>T	ENST00000317605.4	+	1	1700	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000357115.3_Intron|RP11-1336O20.2_ENST00000507934.1_RNA	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	199					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CGGCCCCAATCGGGTGGCCGA	0.642																																																	0													33.0	36.0	35.0					4																	151504776		2202	4298	6500	SO:0001583	missense	10586			AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"""mab-21 (C. elegans)-like 2"""				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.595C>T	4.37:g.151504776C>T	ENSP00000324701:p.Arg199Trp		B3KP37|Q9HBA7	Missense_Mutation	SNP	pfam_Mab-21_dom,pfscan_Ricin_B_lectin	p.R199W	ENST00000317605.4	37	c.595	CCDS3774.1	4	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435924	0.43224	.	.	ENSG00000181541	ENST00000317605	T	0.08546	3.08	5.55	2.85	0.33270	.	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	L	0.39898	1.24	0.52501	D	0.999957	D	0.67145	0.996	P	0.56916	0.809	T	0.00097	-1.2072	10	0.48119	T	0.1	-17.4886	16.4552	0.84009	0.4143:0.5856:0.0:0.0	.	199	Q9Y586	MB212_HUMAN	W	199	ENSP00000324701:R199W	ENSP00000324701:R199W	R	+	1	2	MAB21L2	151724226	0.996000	0.38824	0.846000	0.33378	0.771000	0.43674	0.848000	0.27710	0.036000	0.15547	-2.017000	0.00434	CGG	MAB21L2	-	pfam_Mab-21_dom		0.642	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L2	HGNC	protein_coding	OTTHUMT00000364937.1	C	NM_006439		151504776	+1	no_errors	ENST00000317605	ensembl	human	known	70_37	missense	SNP	1.000	T
LTC4S	4056	genome.wustl.edu	37	5	179221048	179221048	+	5'UTR	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:179221048C>T	ENST00000292596.10	+	0	62				MAML1_ENST00000503050.1_3'UTR|LTC4S_ENST00000401985.3_5'UTR	NM_145867.1	NP_665874.1	Q16873	LTC4S_HUMAN	leukotriene C4 synthase						arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)	enzyme activator activity (GO:0008047)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|leukotriene-C4 synthase activity (GO:0004464)|lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)	1	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Glutathione(DB00143)	AGCTCGCCTTCACACACAGCC	0.652																																																	0													130.0	85.0	100.0					5																	179221048		2203	4300	6503	SO:0001623	5_prime_UTR_variant	9794			U11552	CCDS34316.1	5q35	2009-07-10			ENSG00000213316	ENSG00000213316	4.4.1.20		6719	protein-coding gene	gene with protein product		246530				8052639	Standard	NM_145867		Approved	MGC33147	uc003mko.3	Q16873	OTTHUMG00000150314	ENST00000292596.10:c.-34C>T	5.37:g.179221048C>T			Q8N6P0|Q9UC73|Q9UD18	RNA	SNP	-	NULL	ENST00000292596.10	37	NULL	CCDS34316.1	5																																																																																			MAML1	-	-		0.652	LTC4S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML1	HGNC	protein_coding	OTTHUMT00000317536.2	C	NM_000897		179221048	+1	no_errors	ENST00000503050	ensembl	human	known	70_37	rna	SNP	0.000	T
MAP3K4	4216	genome.wustl.edu	37	6	161527647	161527647	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:161527647C>G	ENST00000392142.4	+	20	4106	c.3958C>G	c.(3958-3960)Caa>Gaa	p.Q1320E	MAP3K4_ENST00000366919.2_Missense_Mutation_p.Q1270E|MAP3K4_ENST00000366920.2_Missense_Mutation_p.Q1316E|MAP3K4_ENST00000348824.7_Missense_Mutation_p.Q1266E	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1320					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TATCATTGGTCAAGTTTGTGA	0.398																																																	0													170.0	155.0	160.0					6																	161527647		2203	4300	6503	SO:0001583	missense	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3958C>G	6.37:g.161527647C>G	ENSP00000375986:p.Gln1320Glu		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q1320E	ENST00000392142.4	37	c.3958	CCDS34565.1	6	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584367	0.86748	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.70986	-0.49;-0.53;-0.53;-0.49	4.85	4.85	0.62838	.	0.000000	0.64402	D	0.000001	T	0.67924	0.2945	L	0.27053	0.805	0.80722	D	1	P;P;D;D	0.60160	0.947;0.846;0.984;0.987	P;P;P;P	0.61070	0.832;0.449;0.879;0.883	T	0.73056	-0.4103	10	0.56958	D	0.05	-18.4948	17.9942	0.89177	0.0:1.0:0.0:0.0	.	1316;256;1270;1320	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	E	1270;1320;1270;1316;1266	ENSP00000355886:Q1270E;ENSP00000375986:Q1320E;ENSP00000355887:Q1316E;ENSP00000297332:Q1266E	ENSP00000297332:Q1266E	Q	+	1	0	MAP3K4	161447637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.223000	0.72356	0.585000	0.79938	CAA	MAP3K4	-	NULL		0.398	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	C			161527647	+1	no_errors	ENST00000392142	ensembl	human	known	70_37	missense	SNP	1.000	G
MAPK4	5596	genome.wustl.edu	37	18	48248379	48248379	+	Missense_Mutation	SNP	G	G	A	rs267605202		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr18:48248379G>A	ENST00000400384.2	+	4	1799	c.763G>A	c.(763-765)Gag>Aag	p.E255K	MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Missense_Mutation_p.E44K	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	255	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		AGACAAGGACGAGCTGCTCAG	0.577																																																	0													73.0	83.0	80.0					18																	48248379		2071	4229	6300	SO:0001583	missense	5596			X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.763G>A	18.37:g.48248379G>A	ENSP00000383234:p.Glu255Lys		A1A4C4|Q0VG04	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_ERK3/4	p.E255K	ENST00000400384.2	37	c.763	CCDS42437.1	18	.	.	.	.	.	.	.	.	.	.	G	33	5.246917	0.95305	.	.	ENSG00000141639	ENST00000400384;ENST00000540640	T;T	0.64618	-0.11;-0.11	5.48	5.48	0.80851	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.45034	0.1322	N	0.13327	0.33	0.80722	D	1	P	0.38677	0.642	B	0.35510	0.204	T	0.40459	-0.9562	10	0.17369	T	0.5	-20.1725	18.1051	0.89517	0.0:0.0:1.0:0.0	.	255	P31152	MK04_HUMAN	K	255;44	ENSP00000383234:E255K;ENSP00000439231:E44K	ENSP00000383234:E255K	E	+	1	0	MAPK4	46502377	1.000000	0.71417	0.985000	0.45067	0.988000	0.76386	9.822000	0.99363	2.565000	0.86533	0.561000	0.74099	GAG	MAPK4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_ERK3/4		0.577	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK4	HGNC	protein_coding	OTTHUMT00000448631.2	G	NM_002747		48248379	+1	no_errors	ENST00000400384	ensembl	human	known	70_37	missense	SNP	1.000	A
MBIP	51562	genome.wustl.edu	37	14	36786015	36786015	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:36786015C>G	ENST00000416007.4	-	2	220	c.133G>C	c.(133-135)Gac>Cac	p.D45H	MBIP_ENST00000359527.7_Missense_Mutation_p.D45H|MBIP_ENST00000603913.1_5'Flank|MBIP_ENST00000318473.7_Missense_Mutation_p.D45H	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	45					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		TCTCTGAGGTCAAGCTTCAAA	0.413																																																	0													79.0	70.0	73.0					14																	36786015		2203	4300	6503	SO:0001583	missense	51562			BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.133G>C	14.37:g.36786015C>G	ENSP00000399718:p.Asp45His		Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Missense_Mutation	SNP	NULL	p.D45H	ENST00000416007.4	37	c.133	CCDS9658.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.00|16.00	2.997871|2.997871	0.54147|0.54147	.|.	.|.	ENSG00000151332|ENSG00000151332	ENST00000416007;ENST00000318473;ENST00000359527;ENST00000396329;ENST00000556427|ENST00000553977	T;T;T|.	0.42513|.	0.97;0.97;0.97|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.183361|.	0.64402|.	D|.	0.000015|.	T|.	0.21347|.	0.0514|.	N|N	0.08118|0.08118	0|0	0.19945|0.19945	N|N	0.999945|0.999945	B;P;B|.	0.37636|.	0.374;0.603;0.374|.	B;B;B|.	0.35470|.	0.132;0.203;0.132|.	T|.	0.20874|.	-1.0262|.	10|.	0.59425|.	D|.	0.04|.	-8.476|-8.476	11.5154|11.5154	0.50518|0.50518	0.0:0.0705:0.0:0.9295|0.0:0.0705:0.0:0.9295	.|.	45;45;45|.	Q9NS73-5;Q9NS73-3;Q9NS73|.	.;.;MBIP1_HUMAN|.	H|S	45;45;45;45;3|41	ENSP00000399718:D45H;ENSP00000324444:D45H;ENSP00000352517:D45H|.	ENSP00000324444:D45H|.	D|X	-|-	1|2	0|2	MBIP|MBIP	35855766|35855766	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	4.154000|4.154000	0.58125|0.58125	0.975000|0.975000	0.38392|0.38392	-0.352000|-0.352000	0.07741|0.07741	GAC|TGA	MBIP	-	NULL		0.413	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MBIP	HGNC	protein_coding	OTTHUMT00000276685.2	C	NM_016586		36786015	-1	no_errors	ENST00000416007	ensembl	human	known	70_37	missense	SNP	1.000	G
MBL1P	8512	genome.wustl.edu	37	10	81680031	81680031	+	RNA	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:81680031G>A	ENST00000480805.1	+	0	98					NR_002724.2				mannose-binding lectin (protein A) 1, pseudogene																		ctatttaaatgaGATGGGATG	0.498																																																	0																																												8512			AF019382		10q22.3	2012-11-02	2009-12-02	2009-12-02	ENSG00000242600	ENSG00000242600		"""Collectins"""	6921	pseudogene	pseudogene			"""mannose-binding lectin (protein A) 1, pseudogene 1"""	MBL1P1		9501312	Standard	NR_002724		Approved	COLEC3P	uc001kbg.1		OTTHUMG00000018595		10.37:g.81680031G>A				RNA	SNP	-	NULL	ENST00000480805.1	37	NULL		10																																																																																			MBL1P	-	-		0.498	MBL1P-001	KNOWN	basic	processed_transcript	MBL1P	HGNC	pseudogene	OTTHUMT00000049017.1	G			81680031	+1	no_errors	ENST00000480805	ensembl	human	known	70_37	rna	SNP	0.000	A
MCM3AP	8888	genome.wustl.edu	37	21	47669673	47669673	+	Intron	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr21:47669673C>T	ENST00000397708.1	-	21	4545				MCM3AP-AS1_ENST00000414659.1_RNA|AP001469.9_ENST00000430259.1_RNA|MCM3AP_ENST00000467026.1_Intron|MCM3AP-AS1_ENST00000455567.1_RNA|AP001469.7_ENST00000444966.1_RNA|AP001469.9_ENST00000447037.1_RNA|MCM3AP_ENST00000291688.1_Intron|MCM3AP-AS1_ENST00000590829.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein						DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					cctgtgcagtctgtgtttgca	0.498																																																	0																																										SO:0001627	intron_variant	114044			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4290+1769G>A	21.37:g.47669673C>T			C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	RNA	SNP	-	NULL	ENST00000397708.1	37	NULL	CCDS13734.1	21																																																																																			MCM3AP-AS1	-	-		0.498	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP-AS1	HGNC	protein_coding	OTTHUMT00000207254.1	C	NM_003906		47669673	+1	no_errors	ENST00000414659	ensembl	human	known	70_37	rna	SNP	0.000	T
METAP2	10988	genome.wustl.edu	37	12	95877012	95877012	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:95877012G>A	ENST00000323666.5	+	3	510	c.281G>A	c.(280-282)gGa>gAa	p.G94E	METAP2_ENST00000261220.9_Intron|METAP2_ENST00000546753.1_Missense_Mutation_p.G94E|METAP2_ENST00000551840.1_Missense_Mutation_p.G93E|METAP2_ENST00000550777.1_Missense_Mutation_p.G58E	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						GATGGAGATGGAGCAACTGGA	0.363																																																	0													134.0	128.0	130.0					12																	95877012		2203	4300	6503	SO:0001583	missense	10988			U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"""Peptidase M"""	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.281G>A	12.37:g.95877012G>A	ENSP00000325312:p.Gly94Glu			Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP2	p.G94E	ENST00000323666.5	37	c.281	CCDS9052.1	12	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284261	0.23392	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000549502;ENST00000553151;ENST00000550777;ENST00000551840	.	.	.	4.99	4.1	0.47936	.	0.351646	0.28470	N	0.015235	T	0.49389	0.1554	N	0.10645	0.015	0.42572	D	0.99318	D;D;B;B	0.76494	0.999;0.997;0.062;0.037	D;D;B;B	0.80764	0.994;0.994;0.055;0.025	T	0.46456	-0.9190	9	0.18276	T	0.48	-16.2397	13.338	0.60528	0.0:0.1589:0.8411:0.0	.	94;58;93;94	B4DUX5;F8VRR3;F8VQZ7;P50579	.;.;.;AMPM2_HUMAN	E	94;94;122;70;58;93	.	ENSP00000325312:G94E	G	+	2	0	METAP2	94401143	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.514000	0.53422	1.424000	0.47217	0.591000	0.81541	GGA	METAP2	-	NULL		0.363	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	METAP2	HGNC	protein_coding	OTTHUMT00000408296.1	G	NM_006838		95877012	+1	no_errors	ENST00000323666	ensembl	human	known	70_37	missense	SNP	1.000	A
MGST3	4259	genome.wustl.edu	37	1	165623517	165623517	+	Splice_Site	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:165623517G>A	ENST00000367889.3	+	5	691	c.251G>A	c.(250-252)cGt>cAt	p.R84H	MGST3_ENST00000367886.2_Splice_Site_p.R98H|MGST3_ENST00000367885.1_Splice_Site_p.R98H|MGST3_ENST00000367883.1_Splice_Site_p.R98H|MGST3_ENST00000367884.2_Splice_Site_p.R84H|MGST3_ENST00000367888.4_Splice_Site_p.R84H	NM_004528.3	NP_004519.1	O14880	MGST3_HUMAN	microsomal glutathione S-transferase 3	84					glutathione derivative biosynthetic process (GO:1901687)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|peroxidase activity (GO:0004601)			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)	TTTTCTTAGCGTATAGCTTCT	0.383																																																	0													240.0	225.0	230.0					1																	165623517		2203	4300	6503	SO:0001630	splice_region_variant	4259			AF026977	CCDS1249.1	1q23	2012-06-21			ENSG00000143198	ENSG00000143198	2.5.1.18	"""Glutathione S-transferases / Microsomal"""	7064	protein-coding gene	gene with protein product	"""microsomal glutathione S-transferase III"", ""microsomal GST-3"", ""microsomal GST-III"""	604564				9278457	Standard	NM_004528		Approved	GST-III	uc001gdf.3	O14880	OTTHUMG00000034627	ENST00000367889.3:c.250-1G>A	1.37:g.165623517G>A			B2R592|Q6ICN4	Missense_Mutation	SNP	pfam_Membr-assoc_MAPEG	p.R98H	ENST00000367889.3	37	c.293	CCDS1249.1	1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382734	0.82792	.	.	ENSG00000143198	ENST00000367889;ENST00000367888;ENST00000367885;ENST00000404549;ENST00000367884;ENST00000367883;ENST00000367886	T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.9	4.98	0.66077	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.046129	0.85682	D	0.000000	T	0.61615	0.2361	M	0.85945	2.785	0.51482	D	0.999923	D;D	0.89917	1.0;0.979	D;P	0.72625	0.978;0.781	T	0.66488	-0.5911	9	0.14656	T	0.56	-15.5675	12.5905	0.56439	0.0798:0.0:0.9202:0.0	.	98;84	Q5VV89;O14880	.;MGST3_HUMAN	H	84;84;98;98;84;98;98	ENSP00000356864:R84H;ENSP00000356863:R84H;ENSP00000356860:R98H;ENSP00000384372:R98H;ENSP00000356859:R84H;ENSP00000356858:R98H;ENSP00000356861:R98H	ENSP00000356858:R98H	R	+	2	0	MGST3	163890141	1.000000	0.71417	0.908000	0.35775	0.916000	0.54674	7.684000	0.84104	1.492000	0.48499	0.563000	0.77884	CGT	MGST3	-	pfam_Membr-assoc_MAPEG		0.383	MGST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGST3	HGNC	protein_coding	OTTHUMT00000083797.3	G	NM_004528	Missense_Mutation	165623517	+1	no_errors	ENST00000367883	ensembl	human	known	70_37	missense	SNP	0.997	A
MIA3	375056	genome.wustl.edu	37	1	222803422	222803422	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:222803422G>A	ENST00000344922.5	+	4	2885	c.2860G>A	c.(2860-2862)Gaa>Aaa	p.E954K	MIA3_ENST00000344441.6_Missense_Mutation_p.E954K|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	954					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CTTGCTACAAGAAATGTCATC	0.428																																																	0													78.0	74.0	75.0					1																	222803422		1977	4182	6159	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2860G>A	1.37:g.222803422G>A	ENSP00000340900:p.Glu954Lys		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.E954K	ENST00000344922.5	37	c.2860	CCDS41470.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.36|12.36	1.915689|1.915689	0.33815|0.33815	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831|ENST00000354906	T;T|.	0.05025|.	3.51;3.51|.	5.25|5.25	4.34|4.34	0.51931|0.51931	.|.	.|.	.|.	.|.	.|.	T|T	0.50343|0.50343	0.1610|0.1610	L|L	0.55481|0.55481	1.735|1.735	0.27774|0.27774	N|N	0.943399|0.943399	B;P|.	0.38922|.	0.026;0.651|.	B;B|.	0.35931|.	0.015;0.214|.	T|T	0.43909|0.43909	-0.9362|-0.9362	9|5	0.72032|.	D|.	0.01|.	.|.	10.5918|10.5918	0.45314|0.45314	0.1494:0.0:0.8506:0.0|0.1494:0.0:0.8506:0.0	.|.	954;954|.	Q5JRA6-2;Q5JRA6|.	.;MIA3_HUMAN|.	K|K	954|536	ENSP00000340900:E954K;ENSP00000340587:E954K|.	ENSP00000325973:E954K|.	E|R	+|+	1|2	0|0	MIA3|MIA3	220870045|220870045	1.000000|1.000000	0.71417|0.71417	0.040000|0.040000	0.18447|0.18447	0.069000|0.069000	0.16628|0.16628	3.277000|3.277000	0.51654|0.51654	1.359000|1.359000	0.45940|0.45940	-0.448000|-0.448000	0.05591|0.05591	GAA|AGA	MIA3	-	NULL		0.428	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	G	NM_198551		222803422	+1	no_errors	ENST00000344441	ensembl	human	known	70_37	missense	SNP	0.884	A
C17orf49	124944	genome.wustl.edu	37	17	6919759	6919759	+	Intron	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:6919759C>G	ENST00000439424.2	+	4	294				MIR497HG_ENST00000443997.1_RNA|MIR497HG_ENST00000572453.1_RNA|C17orf49_ENST00000546495.1_Intron|MIR497HG_ENST00000385194.1_RNA|C17orf49_ENST00000546760.1_Intron|MIR497HG_ENST00000385056.1_RNA|C17orf49_ENST00000552775.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|RNASEK-C17orf49_ENST00000547302.2_Intron|C17orf49_ENST00000552402.1_Intron|AC040977.1_ENST00000593646.1_5'Flank|C17orf49_ENST00000547709.1_Intron	NM_001142798.2|NM_174893.3	NP_001136270.1|NP_777553.1	Q8IXM2	BAP18_HUMAN	chromosome 17 open reading frame 49						chromatin modification (GO:0016568)	MLL1 complex (GO:0071339)|NURF complex (GO:0016589)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|ovary(1)	4						CCCGTCCCCTCTTCTGTTAGT	0.498																																																	0																																										SO:0001627	intron_variant	100506755			AK055800	CCDS32542.1, CCDS45595.1, CCDS45596.1	17p13.1	2013-02-11			ENSG00000258315	ENSG00000258315			28737	protein-coding gene	gene with protein product	"""BPTF associated protein of 18 kDa"", ""human embryo lung cellular protein interacting with SARS-CoV nsp-10"""						Standard	NM_174893		Approved	MGC49942, BAP18, HEPIS		Q8IXM2	OTTHUMG00000170147	ENST00000439424.2:c.219-55C>G	17.37:g.6919759C>G			B4DIV3|C9J4G0|E9PB29	RNA	SNP	-	NULL	ENST00000439424.2	37	NULL	CCDS32542.1	17																																																																																			MIR497HG	-	-		0.498	C17orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR497HG	HGNC	protein_coding	OTTHUMT00000407666.1	C	NM_174893		6919759	-1	no_errors	ENST00000572453	ensembl	human	known	70_37	rna	SNP	0.003	G
BZRAP1	9256	genome.wustl.edu	37	17	56408533	56408533	+	5'Flank	SNP	G	G	A	rs528796268		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:56408533G>A	ENST00000268893.6	-	0	0				BZRAP1-AS1_ENST00000578334.1_RNA|MIR142_ENST00000579003.1_RNA|BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1-AS1_ENST00000580633.1_RNA|MIR142_ENST00000384835.1_RNA|BZRAP1-AS1_ENST00000580515.1_RNA|BZRAP1_ENST00000355701.3_5'Flank	NM_024418.2	NP_077729.1	O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1							cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGAGGTCCCCGAGCGCCGAGG	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		15716	0.001		0.0	False		,,,				2504	0.0																0													48.0	48.0	48.0					17																	56408533		692	1591	2283	SO:0001631	upstream_gene_variant	406934			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153			17.37:g.56408533G>A	Exception_encountered		O75111|Q8N5W3	RNA	SNP	-	NULL	ENST00000268893.6	37	NULL	CCDS45742.1	17																																																																																			hsa-mir-142	-	-		0.622	BZRAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MIR142	miRBase	protein_coding	OTTHUMT00000443978.1	G	NM_004758		56408533	-1	no_errors	ENST00000579003	ensembl	human	known	70_37	rna	SNP	0.000	A
TOMM40L	84134	genome.wustl.edu	37	1	161197035	161197035	+	Intron	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:161197035C>T	ENST00000367988.3	+	4	452				NR1I3_ENST00000479324.1_5'Flank|MIR5187_ENST00000583479.1_RNA|TOMM40L_ENST00000474486.1_Intron|TOMM40L_ENST00000545897.1_Intron|TOMM40L_ENST00000367987.1_Intron	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like						ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCACTGAATCCTCTTTTCCTC	0.532											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													85.0	78.0	81.0					1																	161197035		2203	4300	6503	SO:0001627	intron_variant	100847090				CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"""translocase of outer mitochondrial membrane 40 homolog-like (yeast)"""				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.184-13C>T	1.37:g.161197035C>T		1814	B7Z4U0|D3DVG9	RNA	SNP	-	NULL	ENST00000367988.3	37	NULL	CCDS1227.1	1																																																																																			MIR5187	-	-		0.532	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR5187	HGNC	protein_coding	OTTHUMT00000083029.1	C	NM_032174		161197035	+1	no_errors	ENST00000583479	ensembl	human	known	70_37	rna	SNP	0.005	T
MIR891A	100126341	genome.wustl.edu	37	X	145109368	145109368	+	RNA	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:145109368C>T	ENST00000401237.1	-	0	22					NR_030581.1				microRNA 891a																		ATCAGTGGCTCAGGTTCGTTG	0.388																																																	0													115.0	92.0	99.0					X																	145109368		1568	3582	5150			100126341					Xq27.3	2011-09-12		2008-12-18	ENSG00000216056	ENSG00000216056		"""ncRNAs / Micro RNAs"""	33635	non-coding RNA	RNA, micro				MIRN891A			Standard	NR_030581		Approved	hsa-mir-891a	uc022cft.1				X.37:g.145109368C>T				RNA	SNP	-	NULL	ENST00000401237.1	37	NULL		X																																																																																			MIR891A	-	-		0.388	MIR891A-201	KNOWN	basic	miRNA	MIR891A	HGNC	miRNA		C	NR_030581		145109368	-1	no_errors	ENST00000401237	ensembl	human	known	70_37	rna	SNP	0.000	T
MKS1	54903	genome.wustl.edu	37	17	56290443	56290443	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:56290443G>A	ENST00000393119.2	-	8	832	c.758C>T	c.(757-759)aCg>aTg	p.T253M	MKS1_ENST00000313863.6_Missense_Mutation_p.T253M|MKS1_ENST00000337050.7_Missense_Mutation_p.T253M|MKS1_ENST00000546108.1_Missense_Mutation_p.T50M|MKS1_ENST00000537529.2_Missense_Mutation_p.T243M	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	253					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTCCCCCTCCGTCTCAATCCT	0.562																																																	0													66.0	68.0	67.0					17																	56290443		1926	4132	6058	SO:0001583	missense	54903			DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.758C>T	17.37:g.56290443G>A	ENSP00000376827:p.Thr253Met		B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	pfam_B9_dom	p.T253M	ENST00000393119.2	37	c.758	CCDS11603.2	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.829|9.829	1.187823|1.187823	0.21954|0.21954	.|.	.|.	ENSG00000011143|ENSG00000011143	ENST00000313863|ENST00000537529;ENST00000393120;ENST00000393119;ENST00000337050;ENST00000546108	.|T;T;T;T	.|0.75154	.|-0.5;-0.5;-0.26;-0.91	5.8|5.8	1.05|1.05	0.20165|0.20165	.|.	.|0.888185	.|0.09157	.|U	.|0.840716	T|T	0.53222|0.53222	0.1783|0.1783	L|L	0.31926|0.31926	0.97|0.97	0.25369|0.25369	N|N	0.988719|0.988719	.|D;P	.|0.54964	.|0.969;0.892	.|B;B	.|0.32465	.|0.146;0.077	T|T	0.51663|0.51663	-0.8677|-0.8677	5|10	.|0.62326	.|D	.|0.03	-24.1711|-24.1711	3.5124|3.5124	0.07713|0.07713	0.4312:0.1959:0.3729:0.0|0.4312:0.1959:0.3729:0.0	.|.	.|253;253	.|A8MPP8;Q9NXB0	.|.;MKS1_HUMAN	W|M	254|243;253;253;253;50	.|ENSP00000442096:T243M;ENSP00000376827:T253M;ENSP00000338407:T253M;ENSP00000443012:T50M	.|ENSP00000338407:T253M	R|T	-|-	1|2	2|0	MKS1|MKS1	53645442|53645442	0.795000|0.795000	0.28851|0.28851	0.628000|0.628000	0.29241|0.29241	0.195000|0.195000	0.23768|0.23768	1.306000|1.306000	0.33505|0.33505	0.356000|0.356000	0.24157|0.24157	-0.135000|-0.135000	0.14842|0.14842	CGG|ACG	MKS1	-	NULL		0.562	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MKS1	HGNC	protein_coding	OTTHUMT00000258015.2	G	NM_017777		56290443	-1	no_errors	ENST00000393119	ensembl	human	known	70_37	missense	SNP	0.487	A
KMT2D	8085	genome.wustl.edu	37	12	49441780	49441780	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:49441780G>A	ENST00000301067.7	-	14	4203	c.4204C>T	c.(4204-4206)Cag>Tag	p.Q1402*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1402	Cys-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q1129*(1)									TGATAGCACTGAGAGCACTGC	0.537																																																	1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)											72.0	76.0	75.0					12																	49441780		2012	4189	6201	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4204C>T	12.37:g.49441780G>A	ENSP00000301067:p.Gln1402*		O14687	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_PHD-finger,pfscan_Znf_RING	p.Q1402*	ENST00000301067.7	37	c.4204	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	44	11.038515	0.99507	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.82	5.82	0.92795	.	0.000000	0.34580	N	0.003858	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8807	0.92354	0.0:0.0:1.0:0.0	.	.	.	.	X	1402	.	ENSP00000301067:Q1402X	Q	-	1	0	MLL2	47728047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.745000	0.94114	0.655000	0.94253	CAG	MLL2	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger		0.537	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49441780	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	nonsense	SNP	1.000	A
KMT2C	58508	genome.wustl.edu	37	7	151873585	151873585	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:151873585G>A	ENST00000262189.6	-	38	9171	c.8953C>T	c.(8953-8955)Cag>Tag	p.Q2985*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q2985*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2985					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)										TGCACACCCTGAGAAAAAACA	0.473																																																	0													57.0	55.0	56.0					7																	151873585		2203	4300	6503	SO:0001587	stop_gained	58508			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.8953C>T	7.37:g.151873585G>A	ENSP00000262189:p.Gln2985*		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.Q2985*	ENST00000262189.6	37	c.8953	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	52|52	18.640446|18.640446	0.99908|0.99908	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	.|D	.|0.85629	.|-2.01	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.161488|.	0.28589|.	N|.	0.014805|.	.|D	.|0.91815	.|0.7410	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.91950	.|0.5570	.|6	0.08837|0.56958	T|D	0.75|0.05	.|.	19.3349|19.3349	0.94312|0.94312	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	2985|490	.|ENSP00000353218:S490L	ENSP00000262189:Q2985X|ENSP00000353218:S490L	Q|S	-|-	1|2	0|0	MLL3|MLL3	151504518|151504518	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	5.160000|5.160000	0.64929|0.64929	2.570000|2.570000	0.86706|0.86706	0.655000|0.655000	0.94253|0.94253	CAG|TCA	MLL3	-	NULL		0.473	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151873585	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	A
KMT2C	58508	genome.wustl.edu	37	7	151919142	151919142	+	Nonsense_Mutation	SNP	G	G	C	rs201254064		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:151919142G>C	ENST00000262189.6	-	22	3661	c.3443C>G	c.(3442-3444)tCa>tGa	p.S1148*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.S1148*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1148					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)	p.S1148*(2)									ACAGCAGTCTGAGGAAGGCAC	0.279																																																	2	Substitution - Nonsense(2)	cervix(2)											54.0	60.0	58.0					7																	151919142		2198	4294	6492	SO:0001587	stop_gained	58508			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.3443C>G	7.37:g.151919142G>C	ENSP00000262189:p.Ser1148*		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.S1148*	ENST00000262189.6	37	c.3443	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	45	11.570198	0.99577	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.58	5.58	0.84498	.	0.202603	0.24542	N	0.037639	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	9.7952	0.40731	0.1578:0.0:0.8422:0.0	.	.	.	.	X	1148	.	ENSP00000262189:S1148X	S	-	2	0	MLL3	151550075	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.146000	0.50631	2.622000	0.88805	0.650000	0.86243	TCA	MLL3	-	NULL		0.279	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151919142	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	C
MMS19	64210	genome.wustl.edu	37	10	99220675	99220675	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:99220675G>C	ENST00000438925.2	-	24	2736	c.2401C>G	c.(2401-2403)Ctt>Gtt	p.L801V	MMS19_ENST00000355839.6_Missense_Mutation_p.L758V|MMS19_ENST00000370782.2_Missense_Mutation_p.L801V|MMS19_ENST00000327277.7_3'UTR|MMS19_ENST00000327238.10_Missense_Mutation_p.L703V	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	801					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		CAGAGAAGAAGAGTGAAGGCC	0.498								Direct reversal of damage																																									0													37.0	35.0	36.0					10																	99220675		2203	4297	6500	SO:0001583	missense	64210			AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"""MET18 homolog (S. cerevisiae)"""	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.2401C>G	10.37:g.99220675G>C	ENSP00000412698:p.Leu801Val		B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	pfam_Tscrpt_MMS19_N,superfamily_ARM-type_fold	p.L801V	ENST00000438925.2	37	c.2401	CCDS7464.1	10	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781787	0.49891	.	.	ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000355839	T;T;T;T	0.65549	1.55;1.55;-0.16;1.55	5.66	-0.315	0.12746	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69178	0.3082	M	0.64404	1.975	0.80722	D	1	P;D;D;B;D	0.89917	0.911;1.0;1.0;0.264;0.966	B;D;D;B;P	0.76071	0.288;0.987;0.987;0.119;0.571	T	0.65553	-0.6140	10	0.12766	T	0.61	.	11.245	0.48991	0.4024:0.0:0.5976:0.0	.	822;703;758;801;758	B4DQX2;Q96T76-5;F8W9Y2;Q96T76;B4E2I3	.;.;.;MMS19_HUMAN;.	V	801;801;703;780;758	ENSP00000412698:L801V;ENSP00000359818:L801V;ENSP00000320059:L703V;ENSP00000348097:L758V	ENSP00000320059:L703V	L	-	1	0	MMS19	99210665	0.998000	0.40836	0.992000	0.48379	0.809000	0.45718	1.343000	0.33930	-0.217000	0.10033	-0.350000	0.07774	CTT	MMS19	-	superfamily_ARM-type_fold		0.498	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS19	HGNC	protein_coding	OTTHUMT00000049706.2	G			99220675	-1	no_errors	ENST00000370782	ensembl	human	known	70_37	missense	SNP	0.994	C
MRGPRG-AS1	283303	genome.wustl.edu	37	11	3243411	3243411	+	RNA	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:3243411G>A	ENST00000420873.2	+	0	873				MRGPRG-AS1_ENST00000434798.1_RNA|MRGPRG-AS1_ENST00000541883.1_RNA			Q2M3A8	MRAS1_HUMAN	MRGPRG antisense RNA 1																		GCAAGGTGAAGAGTTTTGATC	0.647																																																	0																																												283303			AK097749		11p15.4	2012-10-12	2012-08-15	2012-08-10	ENSG00000236301	ENSG00000236301		"""Long non-coding RNAs"""	26691	non-coding RNA	RNA, long non-coding			"""chromosome 11 open reading frame 36"", ""MRGPRG antisense RNA 1 (non-protein coding)"""	C11orf36			Standard	NR_027138		Approved	FLJ36102, HSD-40	uc001lxo.2	Q2M3A8	OTTHUMG00000011707		11.37:g.3243411G>A			Q6TF48|Q8N7R8|Q8N9X7	RNA	SNP	-	NULL	ENST00000420873.2	37	NULL		11	.	.	.	.	.	.	.	.	.	.	g	9.196	1.027305	0.19512	.	.	ENSG00000236301	ENST00000434798;ENST00000420873;ENST00000541883	.	.	.	0.364	0.364	0.16124	.	.	.	.	.	T	0.25901	0.0631	.	.	.	0.09310	N	1	D	0.55172	0.97	B	0.40444	0.329	T	0.17018	-1.0383	6	0.87932	D	0	.	.	.	.	.	157	Q2M3A8	CK036_HUMAN	K	157	.	ENSP00000436553:E157K	E	+	1	0	C11orf36	3199987	0.001000	0.12720	0.024000	0.17045	0.023000	0.10783	-0.079000	0.11357	0.406000	0.25560	0.407000	0.27541	GAG	MRGPRG-AS1	-	-		0.647	MRGPRG-AS1-002	KNOWN	alternative_5_UTR|basic	antisense	MRGPRG-AS1	HGNC	antisense	OTTHUMT00000032345.2	G	NR_027138		3243411	+1	no_errors	ENST00000420873	ensembl	human	known	70_37	rna	SNP	0.091	A
MRPS31	10240	genome.wustl.edu	37	13	41341071	41341071	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr13:41341071G>A	ENST00000323563.6	-	2	287	c.251C>T	c.(250-252)aCt>aTt	p.T84I		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	84						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GCTCTCTGAAGTCTCCTTGGA	0.373																																																	0													143.0	138.0	140.0					13																	41341071		2203	4299	6502	SO:0001583	missense	10240			Z68747	CCDS9372.1	13q14.11	2012-09-13			ENSG00000102738	ENSG00000102738		"""Mitochondrial ribosomal proteins / small subunits"""	16632	protein-coding gene	gene with protein product		611992				11279123, 8567980	Standard	NM_005830		Approved	IMOGN38	uc001uxm.4	Q92665	OTTHUMG00000016777	ENST00000323563.6:c.251C>T	13.37:g.41341071G>A	ENSP00000315397:p.Thr84Ile		B2RCS3|Q5VYC8|Q8WTV8	Missense_Mutation	SNP	NULL	p.T84I	ENST00000323563.6	37	c.251	CCDS9372.1	13	.	.	.	.	.	.	.	.	.	.	G	0.460	-0.889431	0.02511	.	.	ENSG00000102738	ENST00000323563	T	0.30714	1.52	3.57	1.66	0.24008	.	0.759593	0.12533	N	0.460609	T	0.28928	0.0718	M	0.72479	2.2	0.09310	N	1	B	0.17852	0.024	B	0.17433	0.018	T	0.26780	-1.0093	10	0.38643	T	0.18	.	4.5946	0.12323	0.1301:0.0:0.6494:0.2204	.	84	Q92665	RT31_HUMAN	I	84	ENSP00000315397:T84I	ENSP00000315397:T84I	T	-	2	0	MRPS31	40239071	0.006000	0.16342	0.005000	0.12908	0.066000	0.16364	0.758000	0.26447	0.551000	0.29008	0.563000	0.77884	ACT	MRPS31	-	NULL		0.373	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS31	HGNC	protein_coding	OTTHUMT00000044640.2	G			41341071	-1	no_errors	ENST00000323563	ensembl	human	known	70_37	missense	SNP	0.001	A
MRPS5	64969	genome.wustl.edu	37	2	95773922	95773922	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:95773922C>G	ENST00000272418.2	-	5	843	c.635G>C	c.(634-636)gGa>gCa	p.G212A		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	212					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TTTGCTACCTCCACAGGGACC	0.468																																																	0													103.0	90.0	94.0					2																	95773922		2203	4300	6503	SO:0001583	missense	64969			AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.635G>C	2.37:g.95773922C>G	ENSP00000272418:p.Gly212Ala		Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	pfam_Ribosomal_S5_C,pfam_Ribosomal_S5_N,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N	p.G212A	ENST00000272418.2	37	c.635	CCDS2010.1	2	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637949	0.67130	.	.	ENSG00000144029	ENST00000272418	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.77498	0.4139	M	0.74881	2.28	0.80722	D	1	D;P	0.67145	0.996;0.952	D;P	0.64687	0.928;0.717	T	0.78309	-0.2254	9	0.49607	T	0.09	-27.0601	16.6902	0.85319	0.0:1.0:0.0:0.0	.	212;212	B4DIW8;P82675	.;RT05_HUMAN	A	212	.	ENSP00000272418:G212A	G	-	2	0	MRPS5	95137649	1.000000	0.71417	1.000000	0.80357	0.221000	0.24807	7.183000	0.77697	2.608000	0.88229	0.462000	0.41574	GGA	MRPS5	-	NULL		0.468	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS5	HGNC	protein_coding	OTTHUMT00000252772.1	C	NM_031902		95773922	-1	no_errors	ENST00000272418	ensembl	human	known	70_37	missense	SNP	1.000	G
MSLNL	401827	genome.wustl.edu	37	16	828733	828733	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:828733C>T	ENST00000442466.1	-	3	187	c.188G>A	c.(187-189)tGg>tAg	p.W63*	MSLNL_ENST00000293892.3_Nonsense_Mutation_p.W330*			Q96KJ4	MSLNL_HUMAN	mesothelin-like	63					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CGGCTGGCACCAGAAGCCTTG	0.692																																																	0													7.0	9.0	8.0					16																	828733		1958	4122	6080	SO:0001587	stop_gained	401827					16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.188G>A	16.37:g.828733C>T	ENSP00000415767:p.Trp63*			Nonsense_Mutation	SNP	pfam_Mesothelin	p.W330*	ENST00000442466.1	37	c.989		16	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242751	0.79912	.	.	ENSG00000162006	ENST00000442466;ENST00000293892	.	.	.	4.05	3.09	0.35607	.	0.722514	0.12545	N	0.459554	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0996	6.9936	0.24769	0.0:0.8768:0.0:0.1232	.	.	.	.	X	63;330	.	ENSP00000293892:W330X	W	-	2	0	MSLNL	768734	1.000000	0.71417	1.000000	0.80357	0.259000	0.26198	1.380000	0.34351	2.282000	0.76494	0.549000	0.68633	TGG	MSLNL	-	NULL		0.692	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	MSLNL	HGNC	protein_coding		C	NM_001025190		828733	-1	no_errors	ENST00000293892	ensembl	human	known	70_37	nonsense	SNP	1.000	T
MUC4	4585	genome.wustl.edu	37	3	195513724	195513724	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:195513724G>A	ENST00000463781.3	-	2	5186	c.4727C>T	c.(4726-4728)tCa>tTa	p.S1576L	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S1576L|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTAGATGCTGAGGAAGGGCT	0.582																																																	0													15.0	13.0	14.0					3																	195513724		682	1577	2259	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.4727C>T	3.37:g.195513724G>A	ENSP00000417498:p.Ser1576Leu		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.S1576L	ENST00000463781.3	37	c.4727	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	8.278	0.814964	0.16607	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.33216	1.42;1.42	.	.	.	.	.	.	.	.	T	0.13200	0.0320	N	0.19112	0.55	0.09310	N	1	P	0.38110	0.618	B	0.25759	0.063	T	0.16247	-1.0409	7	.	.	.	.	5.8679	0.18786	8.0E-4:0.0:0.9992:0.0	.	1576	E7ESK3	.	L	1576	ENSP00000417498:S1576L;ENSP00000420243:S1576L	.	S	-	2	0	MUC4	196998119	0.295000	0.24389	0.007000	0.13788	0.007000	0.05969	4.798000	0.62510	0.088000	0.17205	0.089000	0.15464	TCA	MUC4	-	NULL		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195513724	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.018	A
MUM1L1	139221	genome.wustl.edu	37	X	105451483	105451483	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:105451483G>C	ENST00000357175.2	+	4	2707	c.2058G>C	c.(2056-2058)aaG>aaC	p.K686N	MUM1L1_ENST00000337685.2_Missense_Mutation_p.K686N|MUM1L1_ENST00000372552.1_Missense_Mutation_p.K686N	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	686						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TATATGAAAAGAGACGAAAAG	0.373																																																	0																																										SO:0001583	missense	139221			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.2058G>C	X.37:g.105451483G>C	ENSP00000349699:p.Lys686Asn		D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase_major_dom	p.K686N	ENST00000357175.2	37	c.2058	CCDS55469.1	X	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630784	0.28978	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.25579	1.79;1.79;1.79	3.85	3.85	0.44370	.	0.269718	0.25666	N	0.029120	T	0.42337	0.1198	L	0.53249	1.67	0.36322	D	0.858341	D	0.89917	1.0	D	0.87578	0.998	T	0.48186	-0.9057	10	0.48119	T	0.1	-26.717	10.2276	0.43236	0.0:0.0:1.0:0.0	.	686	Q5H9M0	MUML1_HUMAN	N	686	ENSP00000349699:K686N;ENSP00000338641:K686N;ENSP00000361632:K686N	ENSP00000338641:K686N	K	+	3	2	MUM1L1	105338139	1.000000	0.71417	0.999000	0.59377	0.383000	0.30230	2.409000	0.44583	2.169000	0.68431	0.422000	0.28245	AAG	MUM1L1	-	NULL		0.373	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1L1	HGNC	protein_coding	OTTHUMT00000057795.1	G	NM_152423		105451483	+1	no_errors	ENST00000337685	ensembl	human	known	70_37	missense	SNP	0.999	C
MYH2	4620	genome.wustl.edu	37	17	10428323	10428323	+	Silent	SNP	G	G	A	rs561798452		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:10428323G>A	ENST00000245503.5	-	34	5106	c.4722C>T	c.(4720-4722)gtC>gtT	p.V1574V	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.V1574V	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1574					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTCAGACTTGACTTGGTTCA	0.448													g|||	1	0.000199681	0.0	0.0014	5008	,	,		21773	0.0		0.0	False		,,,				2504	0.0																0													108.0	109.0	108.0					17																	10428323		2203	4297	6500	SO:0001819	synonymous_variant	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4722C>T	17.37:g.10428323G>A			A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V1574	ENST00000245503.5	37	c.4722	CCDS11156.1	17																																																																																			MYH2	-	pfam_Myosin_tail		0.448	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	G	NM_017534		10428323	-1	no_errors	ENST00000245503	ensembl	human	known	70_37	silent	SNP	1.000	A
MYO10	4651	genome.wustl.edu	37	5	16762719	16762719	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:16762719C>T	ENST00000513610.1	-	15	1976	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	508	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGGCTTTCTTCATTGATAAGG	0.418																																																	0													88.0	78.0	81.0					5																	16762719		1948	4157	6105	SO:0001583	missense	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.1522G>A	5.37:g.16762719C>T	ENSP00000421280:p.Glu508Lys		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.E508K	ENST00000513610.1	37	c.1522	CCDS54834.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.631314	0.96682	.	.	ENSG00000145555	ENST00000513610;ENST00000513882	T;T	0.80653	-1.4;-1.4	5.76	5.76	0.90799	Myosin head, motor domain (3);	.	.	.	.	D	0.94013	0.8082	H	0.97315	3.98	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.996;1.0	D	0.95504	0.8580	9	0.87932	D	0	.	19.9695	0.97278	0.0:1.0:0.0:0.0	.	149;508	Q69YP8;Q9HD67	.;MYO10_HUMAN	K	508;519	ENSP00000421280:E508K;ENSP00000421309:E519K	ENSP00000421280:E508K	E	-	1	0	MYO10	16815719	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.664000	0.83830	2.736000	0.93811	0.655000	0.94253	GAA	MYO10	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.418	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	C	NM_012334		16762719	-1	no_errors	ENST00000513610	ensembl	human	known	70_37	missense	SNP	1.000	T
MYO15A	51168	genome.wustl.edu	37	17	18060373	18060373	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:18060373C>T	ENST00000205890.5	+	49	9045	c.8707C>T	c.(8707-8709)Cga>Tga	p.R2903*	MYO15A_ENST00000451725.2_5'Flank|MYO15A_ENST00000418233.3_Nonsense_Mutation_p.R167*	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2903	SH3.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGAGCCACCTCGAGTGGGTCA	0.652																																																	0													41.0	41.0	41.0					17																	18060373		1962	4157	6119	SO:0001587	stop_gained	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.8707C>T	17.37:g.18060373C>T	ENSP00000205890:p.Arg2903*		B4DFC7	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.R2903*	ENST00000205890.5	37	c.8707	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	C	41	8.726795	0.98931	.	.	ENSG00000091536	ENST00000205890;ENST00000536811	.	.	.	5.04	-1.71	0.08133	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999989	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.7161	0.08438	0.509:0.189:0.2194:0.0826	.	.	.	.	X	2903;102	.	ENSP00000205890:R2903X	R	+	1	2	MYO15A	18001098	.	.	0.028000	0.17463	0.686000	0.39977	.	.	0.119000	0.18210	0.555000	0.69702	CGA	MYO15A	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain		0.652	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	C	NM_016239		18060373	+1	no_errors	ENST00000205890	ensembl	human	known	70_37	nonsense	SNP	0.048	T
MYO7B	4648	genome.wustl.edu	37	2	128350456	128350456	+	Missense_Mutation	SNP	C	C	T	rs559819413		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:128350456C>T	ENST00000409816.2	+	16	2112	c.2080C>T	c.(2080-2082)Cgc>Tgc	p.R694C	MYO7B_ENST00000428314.1_Missense_Mutation_p.R694C|MYO7B_ENST00000389524.4_Missense_Mutation_p.R694C			Q6PIF6	MYO7B_HUMAN	myosin VIIB	694	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTTCCCCATCCGCTACACGTT	0.652																																																	0													34.0	44.0	41.0					2																	128350456		2095	4208	6303	SO:0001583	missense	4648				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2080C>T	2.37:g.128350456C>T	ENSP00000386461:p.Arg694Cys		Q14786|Q8TEE1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.R694C	ENST00000409816.2	37	c.2080	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312569	0.81358	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.92699	-3.09;-3.09;-3.09	4.73	3.83	0.44106	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.97629	0.9223	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98121	1.0425	10	0.87932	D	0	.	12.9835	0.58577	0.2936:0.7064:0.0:0.0	.	694	Q6PIF6	MYO7B_HUMAN	C	694	ENSP00000374175:R694C;ENSP00000415090:R694C;ENSP00000386461:R694C	ENSP00000374175:R694C	R	+	1	0	MYO7B	128066926	0.998000	0.40836	1.000000	0.80357	0.860000	0.49131	3.833000	0.55790	1.090000	0.41315	0.655000	0.94253	CGC	MYO7B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.652	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	C	XM_291001		128350456	+1	no_errors	ENST00000389524	ensembl	human	known	70_37	missense	SNP	1.000	T
MYO9B	4650	genome.wustl.edu	37	19	17320447	17320447	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:17320447G>A	ENST00000594824.1	+	36	5824	c.5677G>A	c.(5677-5679)Gag>Aag	p.E1893K	MYO9B_ENST00000595618.1_Missense_Mutation_p.E1893K|MYO9B_ENST00000397274.2_Missense_Mutation_p.E1893K|CTD-3032J10.3_ENST00000601929.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	1893	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGTGAAGATGGAGGAGATCAG	0.577																																																	0													64.0	77.0	73.0					19																	17320447		2111	4231	6342	SO:0001583	missense	4650				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.5677G>A	19.37:g.17320447G>A	ENSP00000471367:p.Glu1893Lys		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.E1893K	ENST00000594824.1	37	c.5677		19	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891433	0.33442	.	.	ENSG00000099331	ENST00000397274;ENST00000319396	D	0.83755	-1.76	4.0	2.96	0.34315	.	0.301930	0.23356	N	0.049067	T	0.66992	0.2846	N	0.21142	0.635	0.34127	D	0.664816	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.61903	-0.6967	10	0.15952	T	0.53	.	7.0135	0.24875	0.0959:0.1749:0.7292:0.0	.	1893;1893;1899	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	K	1893;238	ENSP00000380444:E1893K	ENSP00000314032:E238K	E	+	1	0	MYO9B	17181447	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.142000	0.64820	1.039000	0.40074	0.561000	0.74099	GAG	MYO9B	-	NULL		0.577	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1	G			17320447	+1	no_errors	ENST00000594824	ensembl	human	known	70_37	missense	SNP	1.000	A
NACAD	23148	genome.wustl.edu	37	7	45124277	45124277	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:45124277C>G	ENST00000490531.2	-	2	1521	c.1502G>C	c.(1501-1503)aGa>aCa	p.R501T		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	501					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						TGGGGTCACTCTGGTAGCCAC	0.612																																																	0													45.0	47.0	47.0					7																	45124277		692	1591	2283	SO:0001583	missense	23148			AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.1502G>C	7.37:g.45124277C>G	ENSP00000420477:p.Arg501Thr			Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx	p.R501T	ENST00000490531.2	37	c.1502	CCDS47582.1	7	.	.	.	.	.	.	.	.	.	.	C	4.433	0.080200	0.08533	.	.	ENSG00000136274	ENST00000490531	T	0.10668	2.85	3.38	-3.7	0.04437	.	.	.	.	.	T	0.03136	0.0092	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44605	-0.9317	9	0.13470	T	0.59	5.9515	1.6612	0.02792	0.354:0.274:0.2611:0.1109	.	501	O15069	NACAD_HUMAN	T	501	ENSP00000420477:R501T	ENSP00000420477:R501T	R	-	2	0	NACAD	45090802	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.639000	0.00865	-0.571000	0.06014	0.462000	0.41574	AGA	NACAD	-	NULL		0.612	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACAD	HGNC	protein_coding	OTTHUMT00000353652.2	C	NM_001146334		45124277	-1	no_errors	ENST00000490531	ensembl	human	known	70_37	missense	SNP	0.000	G
NALCN	259232	genome.wustl.edu	37	13	101769334	101769334	+	Intron	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr13:101769334G>A	ENST00000251127.6	-	19	2274					NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective						calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTAATGGGTGAGCTCGTCGG	0.453																																																	0													34.0	30.0	31.0					13																	101769334		876	1991	2867	SO:0001627	intron_variant	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2193-5757C>T	13.37:g.101769334G>A			Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	RNA	SNP	-	NULL	ENST00000251127.6	37	NULL	CCDS9498.1	13																																																																																			NALCN	-	-		0.453	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	G	NM_052867		101769334	-1	no_errors	ENST00000467264	ensembl	human	known	70_37	rna	SNP	0.045	A
NANOS2	339345	genome.wustl.edu	37	19	46417623	46417623	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:46417623G>A	ENST00000341294.2	-	1	413	c.329C>T	c.(328-330)aCg>aTg	p.T110M		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	110					germ-line stem cell maintenance (GO:0030718)|mRNA catabolic process (GO:0006402)|multicellular organismal development (GO:0007275)|negative regulation of meiosis (GO:0045835)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	mRNA binding (GO:0003729)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		GTACTTGAGCGTATGGGCCTG	0.652																																																	0													60.0	54.0	56.0					19																	46417623		2203	4300	6503	SO:0001583	missense	339345			BC042883	CCDS33056.1	19q13.32	2003-12-01				ENSG00000188425			23292	protein-coding gene	gene with protein product		608228				12947200, 12690449	Standard	NM_001029861		Approved	NOS2	uc002pdu.3	P60321		ENST00000341294.2:c.329C>T	19.37:g.46417623G>A	ENSP00000341021:p.Thr110Met		Q17R30|Q4G0P8	Missense_Mutation	SNP	pfam_Znf_nanos-typ	p.T110M	ENST00000341294.2	37	c.329	CCDS33056.1	19	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722740	0.89298	.	.	ENSG00000188425	ENST00000341294	T	0.58940	0.3	4.64	4.64	0.57946	Zinc finger, nanos-type (2);	0.000000	0.64402	D	0.000002	T	0.80497	0.4634	M	0.91249	3.19	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.85222	0.1027	10	0.87932	D	0	-27.6711	15.0415	0.71793	0.0:0.0:1.0:0.0	.	110	P60321	NANO2_HUMAN	M	110	ENSP00000341021:T110M	ENSP00000341021:T110M	T	-	2	0	NANOS2	51109463	1.000000	0.71417	0.994000	0.49952	0.825000	0.46686	8.796000	0.91877	2.424000	0.82194	0.484000	0.47621	ACG	NANOS2	-	pfam_Znf_nanos-typ		0.652	NANOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NANOS2	HGNC	protein_coding	OTTHUMT00000461685.1	G			46417623	-1	no_errors	ENST00000341294	ensembl	human	known	70_37	missense	SNP	1.000	A
ICE2	79664	genome.wustl.edu	37	15	60741397	60741397	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr15:60741397C>T	ENST00000261520.4	-	10	2003	c.1769G>A	c.(1768-1770)gGa>gAa	p.G590E	NARG2_ENST00000439632.1_Missense_Mutation_p.G453E	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						AGCTGTCTTTCCATCACTATT	0.403																																																	0													97.0	98.0	97.0					15																	60741397		2203	4300	6503	SO:0001583	missense	79664																														ENST00000261520.4:c.1769G>A	15.37:g.60741397C>T	ENSP00000261520:p.Gly590Glu			Missense_Mutation	SNP	pfam_NARG2_C	p.G590E	ENST00000261520.4	37	c.1769	CCDS10176.1	15	.	.	.	.	.	.	.	.	.	.	C	6.696	0.497138	0.12762	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.73	0.514	0.17007	.	0.901228	0.09846	N	0.748233	T	0.20618	0.0496	L	0.27053	0.805	0.09310	N	1	B;B	0.12013	0.005;0.002	B;B	0.10450	0.005;0.002	T	0.27365	-1.0076	9	0.42905	T	0.14	-2.3922	0.919	0.01311	0.2334:0.3845:0.1627:0.2195	.	258;590	B3KXT2;Q659A1	.;NARG2_HUMAN	E	590;453	.	ENSP00000261520:G590E	G	-	2	0	NARG2	58528689	0.000000	0.05858	0.006000	0.13384	0.112000	0.19704	-0.072000	0.11486	-0.141000	0.11374	0.650000	0.86243	GGA	NARG2	-	NULL		0.403	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARG2	HGNC	protein_coding	OTTHUMT00000256136.1	C			60741397	-1	no_errors	ENST00000261520	ensembl	human	known	70_37	missense	SNP	0.001	T
NBEAL2	23218	genome.wustl.edu	37	3	47043554	47043554	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:47043554G>A	ENST00000450053.3	+	31	5106	c.4927G>A	c.(4927-4929)Gat>Aat	p.D1643N	NBEAL2_ENST00000292309.5_Missense_Mutation_p.D1459N|NBEAL2_ENST00000383740.2_De_novo_Start_OutOfFrame	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1643					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GTCAGCCACTGATGAGGCAGG	0.657																																																	0													5.0	6.0	6.0					3																	47043554		2035	4082	6117	SO:0001583	missense	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4927G>A	3.37:g.47043554G>A	ENSP00000415034:p.Asp1643Asn		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D1643N	ENST00000450053.3	37	c.4927	CCDS46817.1	3	.	.	.	.	.	.	.	.	.	.	G	5.242	0.230107	0.09969	.	.	ENSG00000160796	ENST00000292309;ENST00000450053	T;T	0.57595	0.4;0.39	3.76	1.92	0.25849	.	2.570310	0.01103	N	0.005438	T	0.34571	0.0902	N	0.08118	0	0.19300	N	0.999979	B;B	0.16166	0.007;0.016	B;B	0.11329	0.006;0.003	T	0.27088	-1.0084	10	0.49607	T	0.09	.	5.6406	0.17562	0.1104:0.1983:0.6913:0.0	.	1459;1643	Q6ZNJ1-2;Q6ZNJ1	.;NBEL2_HUMAN	N	1459;1643	ENSP00000292309:D1459N;ENSP00000415034:D1643N	ENSP00000292309:D1459N	D	+	1	0	NBEAL2	47018558	0.010000	0.17322	0.002000	0.10522	0.021000	0.10359	1.722000	0.38042	0.550000	0.28991	0.650000	0.86243	GAT	NBEAL2	-	NULL		0.657	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	G	XM_291064		47043554	+1	no_errors	ENST00000450053	ensembl	human	known	70_37	missense	SNP	0.010	A
NBEAL2	23218	genome.wustl.edu	37	3	47049617	47049617	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:47049617G>A	ENST00000450053.3	+	50	7839	c.7660G>A	c.(7660-7662)Gct>Act	p.A2554T	NBEAL2_ENST00000292309.5_Missense_Mutation_p.A2370T|NBEAL2_ENST00000383740.2_Missense_Mutation_p.A803T	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2554					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGGGCATGGGGCTGCAGTGAG	0.592																																																	0													90.0	89.0	90.0					3																	47049617		2169	4273	6442	SO:0001583	missense	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.7660G>A	3.37:g.47049617G>A	ENSP00000415034:p.Ala2554Thr		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A2554T	ENST00000450053.3	37	c.7660	CCDS46817.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.8|27.8	4.860214|4.860214	0.91433|0.91433	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053;ENST00000445550|ENST00000443829	T;T;T|T	0.61040|0.59502	0.14;0.14;0.14|0.26	5.16|5.16	5.16|5.16	0.70880|0.70880	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.245573|.	0.43110|.	D|.	0.000602|.	T|T	0.46698|0.46698	0.1406|0.1406	N|N	0.20986|0.20986	0.625|0.625	0.39497|0.39497	D|D	0.968144|0.968144	D;B|.	0.56521|.	0.976;0.266|.	P;B|.	0.49085|.	0.6;0.347|.	T|T	0.36601|0.36601	-0.9741|-0.9741	10|7	0.18276|0.02654	T|T	0.48|1	.|.	17.3991|17.3991	0.87454|0.87454	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2370;2554|.	Q6ZNJ1-2;Q6ZNJ1|.	.;NBEL2_HUMAN|.	T|D	2370;803;2554;497|892	ENSP00000292309:A2370T;ENSP00000373246:A803T;ENSP00000415034:A2554T|ENSP00000414560:G892D	ENSP00000292309:A2370T|ENSP00000414560:G892D	A|G	+|+	1|2	0|0	NBEAL2|NBEAL2	47024621|47024621	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	2.109000|2.109000	0.41863|0.41863	2.676000|2.676000	0.91093|0.91093	0.561000|0.561000	0.74099|0.74099	GCT|GGC	NBEAL2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.592	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	G	XM_291064		47049617	+1	no_errors	ENST00000450053	ensembl	human	known	70_37	missense	SNP	1.000	A
NCALD	83988	genome.wustl.edu	37	8	102731654	102731654	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:102731654G>A	ENST00000311028.3	-	5	582	c.204C>T	c.(202-204)gtC>gtT	p.V68V	NCALD_ENST00000395923.1_Silent_p.V68V|NCALD_ENST00000522951.1_Silent_p.V68V|NCALD_ENST00000519508.2_Silent_p.V68V|NCALD_ENST00000521599.1_Silent_p.V68V|NCALD_ENST00000220931.6_Silent_p.V68V	NM_001040624.1|NM_001040626.1	NP_001035714.1|NP_001035716.1	P61601	NCALD_HUMAN	neurocalcin delta	68	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)|regulation of systemic arterial blood pressure (GO:0003073)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	clathrin coat of trans-Golgi network vesicle (GO:0030130)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			AGGTGCGGAAGACATGCTCTG	0.448																																																	0													149.0	153.0	152.0					8																	102731654		2203	4300	6503	SO:0001819	synonymous_variant	83988			AF052142	CCDS6292.1	8q22.3	2014-08-12			ENSG00000104490	ENSG00000104490		"""EF-hand domain containing"""	7655	protein-coding gene	gene with protein product		606722				11267673	Standard	XM_006716672		Approved		uc003ykk.3	P61601	OTTHUMG00000164876	ENST00000311028.3:c.204C>T	8.37:g.102731654G>A			P29554|Q8IYC3|Q9H0W2	Silent	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.V68	ENST00000311028.3	37	c.204	CCDS6292.1	8																																																																																			NCALD	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin		0.448	NCALD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NCALD	HGNC	protein_coding	OTTHUMT00000380732.2	G			102731654	-1	no_errors	ENST00000311028	ensembl	human	known	70_37	silent	SNP	1.000	A
NCOR2	9612	genome.wustl.edu	37	12	124968228	124968228	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:124968228G>A	ENST00000405201.1	-	3	325	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	NCOR2_ENST00000397355.1_Missense_Mutation_p.R109W|NCOR2_ENST00000404621.1_Missense_Mutation_p.R109W|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000356219.3_Missense_Mutation_p.R109W|NCOR2_ENST00000429285.2_Missense_Mutation_p.R109W			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	109					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		AGCTCTAGCCGAGGGCGCTTG	0.652																																																	0													41.0	53.0	49.0					12																	124968228		2040	4197	6237	SO:0001583	missense	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.325C>T	12.37:g.124968228G>A	ENSP00000384018:p.Arg109Trp		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R109W	ENST00000405201.1	37	c.325	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123446	0.37436	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000429285;ENST00000458234;ENST00000420698;ENST00000448008	T;T;T;T;T;T	0.46819	1.64;1.88;1.64;1.88;1.88;0.86	4.92	4.92	0.64577	.	0.000000	0.64402	U	0.000001	T	0.65760	0.2722	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.99;0.99;0.996	T	0.69213	-0.5204	10	0.87932	D	0	-30.24	13.1446	0.59454	0.0:0.0:0.8401:0.1599	.	109;109;109	C9J0Q5;C9J239;C9JFD3	.;.;.	W	109;109;109;109;109;109;109;109;30	ENSP00000384018:R109W;ENSP00000384202:R109W;ENSP00000348551:R109W;ENSP00000380513:R109W;ENSP00000400281:R109W;ENSP00000402808:R109W	ENSP00000348551:R109W	R	-	1	2	NCOR2	123534181	1.000000	0.71417	0.933000	0.37362	0.873000	0.50193	4.203000	0.58453	2.289000	0.77006	0.455000	0.32223	CGG	NCOR2	-	NULL		0.652	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	G	NM_006312		124968228	-1	no_errors	ENST00000356219	ensembl	human	known	70_37	missense	SNP	0.971	A
NDUFB11	54539	genome.wustl.edu	37	X	47003939	47003939	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:47003939C>T	ENST00000377811.3	-	1	964	c.140G>A	c.(139-141)cGg>cAg	p.R47Q	RBM10_ENST00000377604.3_5'Flank|NDUFB11_ENST00000276062.8_Missense_Mutation_p.R47Q|RBM10_ENST00000329236.7_5'Flank|RBM10_ENST00000345781.6_5'Flank	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	47					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						TTCTGGGGGCCGCTTTCCCGC	0.697											OREG0019755	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(77;454 1296 7908 21551 37072)												0													13.0	13.0	13.0					X																	47003939		2115	4117	6232	SO:0001583	missense	54539			AF044213	CCDS14273.1, CCDS48100.1	Xp11.3	2011-07-04			ENSG00000147123	ENSG00000147123		"""Mitochondrial respiratory chain complex / Complex I"""	20372	protein-coding gene	gene with protein product	"""complex I NP17.3 subunit"""	300403				10544803, 12381726	Standard	NM_019056		Approved	ESSS, NP17.3, Np15	uc004dhc.3	Q9NX14	OTTHUMG00000021433	ENST00000377811.3:c.140G>A	X.37:g.47003939C>T	ENSP00000367042:p.Arg47Gln	943	Q5JRR3|Q5JRR4|Q6IAB6|Q8WZ96|Q9BXX9	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_ESSS_su	p.R47Q	ENST00000377811.3	37	c.140	CCDS48100.1	X	.	.	.	.	.	.	.	.	.	.	c	13.68	2.309835	0.40895	.	.	ENSG00000147123	ENST00000377811;ENST00000447793;ENST00000276062	.	.	.	4.1	4.1	0.47936	.	0.000000	0.64402	D	0.000003	T	0.49338	0.1551	M	0.75447	2.3	0.39908	D	0.973982	P;P	0.40398	0.716;0.669	B;B	0.32149	0.141;0.086	T	0.52019	-0.8631	9	0.18710	T	0.47	-8.0209	10.7381	0.46137	0.0:1.0:0.0:0.0	.	47;47	Q9NX14;Q9NX14-2	NDUBB_HUMAN;.	Q	47;51;47	.	ENSP00000276062:R47Q	R	-	2	0	NDUFB11	46888883	0.998000	0.40836	0.811000	0.32455	0.034000	0.12701	2.302000	0.43637	2.297000	0.77311	0.529000	0.55759	CGG	NDUFB11	-	pfam_NADH_UbQ_OxRdtase_ESSS_su		0.697	NDUFB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB11	HGNC	protein_coding	OTTHUMT00000056382.1	C	NM_019056		47003939	-1	no_errors	ENST00000276062	ensembl	human	known	70_37	missense	SNP	0.889	T
NDUFB7	4713	genome.wustl.edu	37	19	14677664	14677664	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:14677664C>T	ENST00000215565.2	-	2	255	c.194G>A	c.(193-195)cGg>cAg	p.R65Q		NM_004146.5	NP_004137.2	P17568	NDUB7_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa	65					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CTTGAGCAGCCGGATGAGGTG	0.657																																																	0													58.0	48.0	52.0					19																	14677664		2196	4288	6484	SO:0001583	missense	4713				CCDS12314.1	19p13.12	2011-07-04	2002-08-29		ENSG00000099795	ENSG00000099795		"""Mitochondrial respiratory chain complex / Complex I"""	7702	protein-coding gene	gene with protein product	"""NADH-ubiquinone oxidoreductase B18 subunit"", ""complex I B18 subunit"""	603842	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7 (18kD, B18)"""			9763677, 10830904	Standard	NM_004146		Approved	B18, CI-B18, MGC2480	uc002mzg.3	P17568		ENST00000215565.2:c.194G>A	19.37:g.14677664C>T	ENSP00000215565:p.Arg65Gln		Q6ICN9|Q9UI16	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_B18_su	p.R65Q	ENST00000215565.2	37	c.194	CCDS12314.1	19	.	.	.	.	.	.	.	.	.	.	C	9.227	1.034854	0.19590	.	.	ENSG00000099795	ENST00000215565	T	0.42513	0.97	4.76	-1.18	0.09617	.	0.365474	0.29293	N	0.012571	T	0.27594	0.0678	L	0.41236	1.265	0.19575	N	0.999965	B	0.10296	0.003	B	0.12156	0.007	T	0.29579	-1.0007	10	0.13470	T	0.59	-10.4819	10.4606	0.44577	0.0:0.5452:0.0:0.4548	.	65	P17568	NDUB7_HUMAN	Q	65	ENSP00000215565:R65Q	ENSP00000215565:R65Q	R	-	2	0	NDUFB7	14538664	0.792000	0.28813	0.281000	0.24762	0.843000	0.47879	0.029000	0.13666	-0.504000	0.06577	-1.975000	0.00460	CGG	NDUFB7	-	pfam_NADH_UbQ_OxRdtase_B18_su		0.657	NDUFB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB7	HGNC	protein_coding	OTTHUMT00000466025.1	C	NM_004146		14677664	-1	no_errors	ENST00000215565	ensembl	human	known	70_37	missense	SNP	0.381	T
NEB	4703	genome.wustl.edu	37	2	152447960	152447960	+	Intron	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:152447960G>C	ENST00000172853.10	-	78	11749				NEB_ENST00000604864.1_Missense_Mutation_p.Q4946E|NEB_ENST00000427231.2_Missense_Mutation_p.Q4946E|NEB_ENST00000603639.1_Missense_Mutation_p.Q4946E|NEB_ENST00000409198.1_Intron|NEB_ENST00000397345.3_Missense_Mutation_p.Q4946E			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAAGCTTGCTGATAGCGTTTC	0.453																																																	0													3.0	3.0	3.0					2																	152447960		206	958	1164	SO:0001627	intron_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11602-15092C>G	2.37:g.152447960G>C			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.Q4946E	ENST00000172853.10	37	c.14836		2	.	.	.	.	.	.	.	.	.	.	g	6.624	0.483633	0.12581	.	.	ENSG00000183091	ENST00000397345;ENST00000427231	T;T	0.06068	3.35;3.49	3.18	-0.236	0.13067	.	.	.	.	.	T	0.09730	0.0239	L	0.52364	1.645	0.09310	N	0.999999	.	.	.	.	.	.	T	0.26052	-1.0114	7	0.66056	D	0.02	.	8.2274	0.31577	0.0:0.1374:0.3104:0.5522	.	.	.	.	E	4946	ENSP00000380505:Q4946E;ENSP00000416578:Q4946E	ENSP00000380505:Q4946E	Q	-	1	0	NEB	152156206	0.000000	0.05858	0.000000	0.03702	0.319000	0.28217	-0.732000	0.04904	-0.402000	0.07633	0.454000	0.30748	CAG	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.453	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		G	NM_004543		152447960	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	0.001	C
NFATC1	4772	genome.wustl.edu	37	18	77208903	77208903	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr18:77208903C>T	ENST00000427363.2	+	4	1508	c.1508C>T	c.(1507-1509)tCc>tTc	p.S503F	NFATC1_ENST00000397790.2_Missense_Mutation_p.S31F|NFATC1_ENST00000542384.1_Missense_Mutation_p.S503F|NFATC1_ENST00000586434.1_Missense_Mutation_p.S490F|NFATC1_ENST00000253506.5_Missense_Mutation_p.S503F|NFATC1_ENST00000318065.5_Missense_Mutation_p.S490F|NFATC1_ENST00000591814.1_Missense_Mutation_p.S503F|NFATC1_ENST00000592223.1_Missense_Mutation_p.S490F|NFATC1_ENST00000545796.1_Missense_Mutation_p.S31F|NFATC1_ENST00000329101.4_Missense_Mutation_p.S490F|NFATC1_ENST00000587635.1_Missense_Mutation_p.S503F			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	503	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	AAGACCGTGTCCACCACCAGC	0.647																																					GBM(151;1210 2593 28719 45011)												0													71.0	59.0	63.0					18																	77208903		2203	4300	6503	SO:0001583	missense	4772			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1508C>T	18.37:g.77208903C>T	ENSP00000389377:p.Ser503Phe		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.S503F	ENST00000427363.2	37	c.1508		18	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709346	0.89018	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000397790;ENST00000542384;ENST00000329101;ENST00000545796;ENST00000427363;ENST00000397794	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	4.83	4.83	0.62350	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.117306	0.64402	D	0.000010	T	0.63094	0.2482	L	0.47190	1.495	0.80722	D	1	D;D;D;D;D;D;D	0.67145	0.996;0.996;0.984;0.996;0.996;0.983;0.984	D;D;D;D;D;D;D	0.71414	0.934;0.934;0.911;0.973;0.973;0.958;0.911	T	0.67150	-0.5743	10	0.87932	D	0	-34.2614	17.945	0.89036	0.0:1.0:0.0:0.0	.	490;490;503;503;503;490;503	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	F	503;503;31;503;490;31;490;467	ENSP00000253506:S503F;ENSP00000380892:S31F;ENSP00000442435:S503F;ENSP00000327850:S490F;ENSP00000439992:S31F	ENSP00000253506:S503F	S	+	2	0	NFATC1	75309891	1.000000	0.71417	0.972000	0.41901	0.909000	0.53808	7.450000	0.80656	2.230000	0.72887	0.561000	0.74099	TCC	NFATC1	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD		0.647	NFATC1-007	KNOWN	basic	protein_coding	NFATC1	HGNC	protein_coding	OTTHUMT00000450507.1	C	NM_172390		77208903	+1	no_errors	ENST00000427363	ensembl	human	known	70_37	missense	SNP	1.000	T
NFKBIA	4792	genome.wustl.edu	37	14	35872446	35872446	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:35872446C>T	ENST00000216797.5	-	3	558	c.457G>A	c.(457-459)Gag>Aag	p.E153K	NFKBIA_ENST00000557389.1_Missense_Mutation_p.E63K|NFKBIA_ENST00000557140.1_Missense_Mutation_p.E153K|NFKBIA_ENST00000557100.1_5'UTR	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	153					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	CAGCCCTGCTCACAGGCAAGG	0.582																																																	0													113.0	115.0	114.0					14																	35872446		2203	4300	6503	SO:0001583	missense	4792				CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"""Ankyrin repeat domain containing"""	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.457G>A	14.37:g.35872446C>T	ENSP00000216797:p.Glu153Lys		B2R8L6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E153K	ENST00000216797.5	37	c.457	CCDS9656.1	14	.	.	.	.	.	.	.	.	.	.	C	11.85	1.763144	0.31228	.	.	ENSG00000100906	ENST00000216797;ENST00000557140;ENST00000557389	T;T;T	0.65178	-0.14;-0.14;-0.14	6.06	6.06	0.98353	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.35335	0.0928	N	0.12182	0.205	0.37951	D	0.932645	B;B	0.30741	0.041;0.293	B;B	0.20955	0.019;0.032	T	0.41395	-0.9511	9	0.02654	T	1	-13.9588	10.4274	0.44387	0.0:0.7833:0.145:0.0717	.	153;153	G3V3I4;P25963	.;IKBA_HUMAN	K	153;153;63	ENSP00000216797:E153K;ENSP00000451257:E153K;ENSP00000450514:E63K	ENSP00000216797:E153K	E	-	1	0	NFKBIA	34942197	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.271000	0.51608	2.882000	0.98803	0.655000	0.94253	GAG	NFKBIA	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt		0.582	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFKBIA	HGNC	protein_coding	OTTHUMT00000276683.1	C	NM_020529		35872446	-1	no_errors	ENST00000216797	ensembl	human	known	70_37	missense	SNP	1.000	T
NLGN4X	57502	genome.wustl.edu	37	X	5821223	5821223	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:5821223A>G	ENST00000381095.3	-	5	2123	c.1496T>C	c.(1495-1497)aTc>aCc	p.I499T	NLGN4X_ENST00000538097.1_Missense_Mutation_p.I499T|NLGN4X_ENST00000381093.2_Missense_Mutation_p.I519T|NLGN4X_ENST00000381092.1_Missense_Mutation_p.I499T|NLGN4X_ENST00000275857.6_Missense_Mutation_p.I499T	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	499					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GATCATGGGGATGCCGAAGAC	0.537																																																	0													100.0	82.0	88.0					X																	5821223		2203	4300	6503	SO:0001583	missense	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1496T>C	X.37:g.5821223A>G	ENSP00000370485:p.Ile499Thr		Q6UX10|Q9ULG0	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.I519T	ENST00000381095.3	37	c.1556	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	A	10.10	1.257074	0.22965	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	3.93	3.93	0.45458	Carboxylesterase, type B (1);	.	.	.	.	T	0.50034	0.1592	N	0.12887	0.27	0.54753	D	0.99998	B;P;B	0.49253	0.004;0.921;0.027	B;P;B	0.49708	0.027;0.62;0.171	T	0.46048	-0.9219	9	0.30078	T	0.28	.	11.4714	0.50270	1.0:0.0:0.0:0.0	.	556;499;519	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	T	499;519;499;499;499	ENSP00000370485:I499T;ENSP00000370483:I519T;ENSP00000275857:I499T;ENSP00000370482:I499T;ENSP00000439203:I499T	ENSP00000275857:I499T	I	-	2	0	NLGN4X	5831223	1.000000	0.71417	0.972000	0.41901	0.262000	0.26303	7.998000	0.88491	1.278000	0.44430	0.486000	0.48141	ATC	NLGN4X	-	pfam_CarbesteraseB		0.537	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	A	NM_020742		5821223	-1	no_errors	ENST00000381093	ensembl	human	known	70_37	missense	SNP	1.000	G
NLGN3	54413	genome.wustl.edu	37	X	70387280	70387280	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:70387280G>A	ENST00000358741.3	+	7	1636	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K	NLGN3_ENST00000536169.1_Missense_Mutation_p.E405K|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000374051.3_Missense_Mutation_p.E425K	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	445					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TGGCTATCCTGAGGGTAAGGA	0.517																																					Esophageal Squamous(103;760 1488 16849 22250 40351)												0													123.0	93.0	103.0					X																	70387280		2203	4300	6503	SO:0001583	missense	54413			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.1333G>A	X.37:g.70387280G>A	ENSP00000351591:p.Glu445Lys		B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.E445K	ENST00000358741.3	37	c.1333	CCDS55441.1	X	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747339	0.69533	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.14	5.14	0.70334	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.56906	0.2017	L	0.44542	1.39	0.80722	D	1	B;P;B	0.35192	0.213;0.489;0.178	B;B;B	0.39935	0.092;0.314;0.095	T	0.60816	-0.7188	10	0.59425	D	0.04	.	17.8251	0.88662	0.0:0.0:1.0:0.0	.	405;445;425	D3DVV1;Q9NZ94;Q9NZ94-2	.;NLGN3_HUMAN;.	K	405;425;405;445	ENSP00000445298:E405K;ENSP00000363163:E425K;ENSP00000379196:E405K;ENSP00000351591:E445K	ENSP00000351591:E445K	E	+	1	0	NLGN3	70304005	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	2.398000	0.81561	0.431000	0.28591	GAG	NLGN3	-	pfam_CarbesteraseB		0.517	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1	G	NM_018977		70387280	+1	no_errors	ENST00000358741	ensembl	human	known	70_37	missense	SNP	1.000	A
NLN	57486	genome.wustl.edu	37	5	65058915	65058915	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:65058915G>C	ENST00000380985.5	+	3	608	c.430G>C	c.(430-432)Gag>Cag	p.E144Q	NLN_ENST00000502464.1_Missense_Mutation_p.E40Q	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	144						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		AGATATATTTGAGAGAATTGT	0.343																																																	0													111.0	109.0	109.0					5																	65058915		2203	4300	6503	SO:0001583	missense	57486			AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.430G>C	5.37:g.65058915G>C	ENSP00000370372:p.Glu144Gln		Q9ULJ4	Missense_Mutation	SNP	pfam_Pept_M3A_M3B	p.E144Q	ENST00000380985.5	37	c.430	CCDS3989.1	5	.	.	.	.	.	.	.	.	.	.	G	3.762	-0.049326	0.07407	.	.	ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000340159	T;T	0.08102	3.13;3.13	5.65	2.89	0.33648	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.591024	0.19173	N	0.120897	T	0.02193	0.0068	N	0.01297	-0.9	0.22489	N	0.999059	B;B	0.09022	0.0;0.002	B;B	0.04013	0.0;0.001	T	0.46400	-0.9194	10	0.02654	T	1	-0.8057	7.7828	0.29074	0.1207:0.6898:0.124:0.0654	.	144;144	Q9BYT8;Q9BQD0	NEUL_HUMAN;.	Q	144;40;144	ENSP00000370372:E144Q;ENSP00000423214:E40Q	ENSP00000339283:E144Q	E	+	1	0	NLN	65094671	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	1.335000	0.33839	0.408000	0.25621	-0.171000	0.13296	GAG	NLN	-	NULL		0.343	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLN	HGNC	protein_coding	OTTHUMT00000215060.1	G			65058915	+1	no_errors	ENST00000380985	ensembl	human	known	70_37	missense	SNP	1.000	C
NLRP1	22861	genome.wustl.edu	37	17	5418837	5418837	+	Splice_Site	SNP	C	C	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:5418837C>A	ENST00000572272.1	-	16	4057	c.4058G>T	c.(4057-4059)gGa>gTa	p.G1353V	NLRP1_ENST00000354411.3_Splice_Site_p.G1323V|NLRP1_ENST00000262467.5_Intron|NLRP1_ENST00000577119.1_Splice_Site_p.G1279V|RNU7-31P_ENST00000517262.1_RNA|NLRP1_ENST00000269280.4_Splice_Site_p.G1309V|NLRP1_ENST00000345221.3_Splice_Site_p.G1309V			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1353					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CATGAGATCTCCTGGAGGAAA	0.493																																																	0													62.0	68.0	66.0					17																	5418837		2010	4172	6182	SO:0001630	splice_region_variant	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.4058-1G>T	17.37:g.5418837C>A			E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.G1353V	ENST00000572272.1	37	c.4058	CCDS42246.1	17	.	.	.	.	.	.	.	.	.	.	C	15.97	2.991210	0.54041	.	.	ENSG00000091592	ENST00000269280;ENST00000354411;ENST00000345221	T;T	0.17054	2.3;2.3	4.17	4.17	0.49024	.	0.000000	0.38217	N	0.001763	T	0.33789	0.0875	L	0.52266	1.64	0.46458	D	0.999057	D;B;D;D	0.76494	0.998;0.408;0.999;0.998	D;B;D;D	0.77004	0.955;0.174;0.989;0.981	T	0.02581	-1.1138	10	0.87932	D	0	.	12.3596	0.55194	0.0:1.0:0.0:0.0	.	1279;1323;1353;1309	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2	.;.;NALP1_HUMAN;.	V	1353;1323;1309	ENSP00000346390:G1323V;ENSP00000324366:G1309V	ENSP00000269280:G1353V	G	-	2	0	NLRP1	5359561	0.998000	0.40836	1.000000	0.80357	0.706000	0.40770	1.547000	0.36190	2.631000	0.89168	0.650000	0.86243	GGA	NLRP1	-	NULL		0.493	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	C	NM_033004	Missense_Mutation	5418837	-1	no_errors	ENST00000572272	ensembl	human	known	70_37	missense	SNP	1.000	A
NLRP2	55655	genome.wustl.edu	37	19	55494519	55494519	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:55494519G>T	ENST00000543010.1	+	6	1596	c.1453G>T	c.(1453-1455)Gac>Tac	p.D485Y	NLRP2_ENST00000263437.6_Missense_Mutation_p.D482Y|NLRP2_ENST00000427260.2_Missense_Mutation_p.D462Y|NLRP2_ENST00000538819.1_Missense_Mutation_p.D461Y|NLRP2_ENST00000391721.4_Missense_Mutation_p.D461Y|NLRP2_ENST00000448584.2_Missense_Mutation_p.D485Y|NLRP2_ENST00000537859.1_Missense_Mutation_p.D463Y|NLRP2_ENST00000339757.7_Missense_Mutation_p.D463Y	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	485	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TCTGTTCCTGGACGGAGACAT	0.622																																																	0													36.0	36.0	36.0					19																	55494519		2203	4298	6501	SO:0001583	missense	55655			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1453G>T	19.37:g.55494519G>T	ENSP00000445135:p.Asp485Tyr		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D485Y	ENST00000543010.1	37	c.1453	CCDS12913.1	19	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579511	0.28180	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.74632	-0.81;-0.76;-0.76;-0.81;-0.76;-0.86;-0.76;-0.81	1.9	-0.292	0.12839	.	0.755055	0.10898	N	0.621923	T	0.76744	0.4030	M	0.80982	2.52	0.09310	N	1	P;P;P;P;P	0.39601	0.564;0.68;0.552;0.68;0.552	B;P;B;P;B	0.47470	0.271;0.548;0.346;0.548;0.346	T	0.66693	-0.5859	10	0.52906	T	0.07	.	4.2054	0.10486	0.3763:0.0:0.6237:0.0	.	462;463;482;461;485	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	Y	485;461;463;485;463;462;461;482	ENSP00000445135:D485Y;ENSP00000375601:D461Y;ENSP00000344074:D463Y;ENSP00000409370:D485Y;ENSP00000440601:D463Y;ENSP00000402474:D462Y;ENSP00000441133:D461Y;ENSP00000263437:D482Y	ENSP00000263437:D482Y	D	+	1	0	NLRP2	60186331	0.033000	0.19621	0.040000	0.18447	0.054000	0.15201	0.486000	0.22340	0.004000	0.14682	0.556000	0.70494	GAC	NLRP2	-	NULL		0.622	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	HGNC	protein_coding	OTTHUMT00000396152.1	G	NM_017852		55494519	+1	no_errors	ENST00000448584	ensembl	human	known	70_37	missense	SNP	0.004	T
NOS2	4843	genome.wustl.edu	37	17	26089878	26089878	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:26089878G>A	ENST00000313735.6	-	22	2979	c.2746C>T	c.(2746-2748)Cac>Tac	p.H916Y		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	916	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GTGGGCGTGTGATCCCGGGAG	0.632																																																	0													24.0	20.0	22.0					17																	26089878		2190	4289	6479	SO:0001583	missense	4843			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.2746C>T	17.37:g.26089878G>A	ENSP00000327251:p.His916Tyr		A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.H916Y	ENST00000313735.6	37	c.2746	CCDS11223.1	17	.	.	.	.	.	.	.	.	.	.	G	0.086	-1.175507	0.01646	.	.	ENSG00000007171	ENST00000313735;ENST00000379105	T	0.65732	-0.17	4.9	3.79	0.43588	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);Ferredoxin reductase-type FAD-binding domain (1);	1.130250	0.06472	N	0.731346	T	0.46132	0.1377	L	0.34521	1.04	0.22511	N	0.999032	B	0.28470	0.213	B	0.27380	0.079	T	0.36553	-0.9743	10	0.05721	T	0.95	.	5.8271	0.18560	0.1064:0.0:0.5988:0.2949	.	916	P35228	NOS2_HUMAN	Y	916;877	ENSP00000327251:H916Y	ENSP00000327251:H916Y	H	-	1	0	NOS2	23114005	0.010000	0.17322	0.130000	0.21974	0.166000	0.22503	0.081000	0.14823	0.817000	0.34445	0.456000	0.33151	CAC	NOS2	-	pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met		0.632	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	HGNC	protein_coding	OTTHUMT00000255597.1	G	NM_000625		26089878	-1	no_errors	ENST00000313735	ensembl	human	known	70_37	missense	SNP	0.195	A
NR1D2	9975	genome.wustl.edu	37	3	24001301	24001301	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:24001301G>C	ENST00000312521.4	+	4	831	c.512G>C	c.(511-513)aGa>aCa	p.R171T	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	171	Hinge.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R171I(1)		NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						GGAATGTCAAGAGATGGTATG	0.398																																																	1	Substitution - Missense(1)	large_intestine(1)											158.0	144.0	149.0					3																	24001301		2203	4300	6503	SO:0001583	missense	9975			BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"""Nuclear hormone receptors"""	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.512G>C	3.37:g.24001301G>C	ENSP00000310006:p.Arg171Thr		B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.R171T	ENST00000312521.4	37	c.512	CCDS33718.1	3	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209481	0.58343	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.97378	-4.36	5.85	5.85	0.93711	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.85682	D	0.000000	D	0.98676	0.9556	M	0.87269	2.87	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	D	0.99289	1.0898	10	0.87932	D	0	.	20.1589	0.98128	0.0:0.0:1.0:0.0	.	171	Q14995	NR1D2_HUMAN	T	171	ENSP00000310006:R171T	ENSP00000310006:R171T	R	+	2	0	NR1D2	23976305	1.000000	0.71417	0.977000	0.42913	0.083000	0.17756	8.042000	0.89430	2.769000	0.95229	0.650000	0.86243	AGA	NR1D2	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt		0.398	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D2	HGNC	protein_coding	OTTHUMT00000341017.3	G			24001301	+1	no_errors	ENST00000312521	ensembl	human	known	70_37	missense	SNP	1.000	C
NRAP	4892	genome.wustl.edu	37	10	115411592	115411592	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:115411592C>T	ENST00000359988.3	-	7	889	c.645G>A	c.(643-645)cgG>cgA	p.R215R	NRAP_ENST00000369358.4_Silent_p.R215R|NRAP_ENST00000360478.3_Silent_p.R215R|NRAP_ENST00000369360.3_Silent_p.R215R	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAGCCTTGCTCCGTAGCAGCT	0.512																																																	0													100.0	77.0	85.0					10																	115411592		2203	4300	6503	SO:0001819	synonymous_variant	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.645G>A	10.37:g.115411592C>T				Silent	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.R215	ENST00000359988.3	37	c.645	CCDS7579.1	10																																																																																			NRAP	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.512	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	HGNC	protein_coding	OTTHUMT00000050425.2	C	NM_006175		115411592	-1	no_errors	ENST00000369358	ensembl	human	known	70_37	silent	SNP	0.998	T
NRG1	3084	genome.wustl.edu	37	8	32621795	32621795	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:32621795G>C	ENST00000405005.3	+	12	1798	c.1798G>C	c.(1798-1800)Gag>Cag	p.E600Q	NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000539990.1_Missense_Mutation_p.E443Q|NRG1_ENST00000338921.4_Missense_Mutation_p.E608Q|NRG1_ENST00000519301.1_Missense_Mutation_p.E550Q|NRG1_ENST00000287842.3_Missense_Mutation_p.E597Q|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000287845.5_Missense_Mutation_p.E571Q|NRG1_ENST00000356819.4_Missense_Mutation_p.E605Q			Q02297	NRG1_HUMAN	neuregulin 1	600					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGCCAGTCTTGAGGCAACACC	0.542																																																	0													53.0	60.0	58.0					8																	32621795		2203	4300	6503	SO:0001583	missense	3084			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1798G>C	8.37:g.32621795G>C	ENSP00000384620:p.Glu600Gln		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like,prints_Neuregulin	p.E608Q	ENST00000405005.3	37	c.1822	CCDS6085.1	8	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352028	0.61183	.	.	ENSG00000157168	ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05	5.95	5.95	0.96441	Neuregulin 1-related, C-terminal (1);	0.129391	0.56097	D	0.000038	T	0.77805	0.4185	L	0.59436	1.845	0.47698	D	0.999495	D;D;D;D;D;D;D	0.76494	0.999;0.995;0.996;0.996;0.995;0.999;0.995	D;D;D;P;D;D;D	0.87578	0.996;0.956;0.98;0.899;0.956;0.998;0.966	T	0.74077	-0.3781	9	.	.	.	-13.5959	20.3789	0.98926	0.0:0.0:1.0:0.0	.	443;571;605;608;597;600;605	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	Q	550;673;608;605;600;571;597;600;443	ENSP00000429582:E550Q;ENSP00000429067:E673Q;ENSP00000343395:E608Q;ENSP00000349275:E605Q;ENSP00000287840:E600Q;ENSP00000287845:E571Q;ENSP00000287842:E597Q;ENSP00000384620:E600Q;ENSP00000439276:E443Q	.	E	+	1	0	NRG1	32741337	1.000000	0.71417	0.981000	0.43875	0.980000	0.70556	5.253000	0.65452	2.826000	0.97356	0.563000	0.77884	GAG	NRG1	-	pfam_Neuregulin_1_C		0.542	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	HGNC	protein_coding	OTTHUMT00000472504.1	G			32621795	+1	no_errors	ENST00000338921	ensembl	human	known	70_37	missense	SNP	0.999	C
NRXN1	9378	genome.wustl.edu	37	2	50147526	50147526	+	3'UTR	SNP	C	C	T	rs550968792		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:50147526C>T	ENST00000406316.2	-	0	7466				NRXN1_ENST00000342183.5_3'UTR|NRXN1_ENST00000401710.1_3'UTR|NRXN1_ENST00000404971.1_3'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGAAAGTTTTCAATTGCAGCA	0.328													C|||	1	0.000199681	0.0	0.0	5008	,	,		14234	0.0		0.001	False		,,,				2504	0.0																0																																										SO:0001624	3_prime_UTR_variant	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.*1556G>A	2.37:g.50147526C>T			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	RNA	SNP	-	NULL	ENST00000406316.2	37	NULL	CCDS54360.1	2																																																																																			NRXN1	-	-		0.328	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	C			50147526	-1	no_errors	ENST00000484192	ensembl	human	known	70_37	rna	SNP	0.997	T
NSD1	64324	genome.wustl.edu	37	5	176637093	176637093	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:176637093C>G	ENST00000439151.2	+	5	1738	c.1693C>G	c.(1693-1695)Cca>Gca	p.P565A	NSD1_ENST00000354179.4_Missense_Mutation_p.P296A|NSD1_ENST00000347982.4_Missense_Mutation_p.P296A|NSD1_ENST00000361032.4_Missense_Mutation_p.P462A	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	565					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAACACTGCCCCAGGAAGTTT	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													54.0	62.0	59.0					5																	176637093		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1693C>G	5.37:g.176637093C>G	ENSP00000395929:p.Pro565Ala		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.P565A	ENST00000439151.2	37	c.1693	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	C	2.002	-0.429255	0.04701	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.92495	-2.94;-2.95;-2.94;-3.05	5.33	3.43	0.39272	.	0.200057	0.35179	N	0.003393	T	0.81019	0.4736	N	0.19112	0.55	0.09310	N	1	B;P;B	0.42871	0.4;0.792;0.278	B;B;B	0.35039	0.121;0.194;0.057	T	0.72609	-0.4241	9	.	.	.	.	7.4748	0.27369	0.2462:0.4928:0.261:0.0	.	296;462;565	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	A	296;296;565;296;462	ENSP00000346111:P296A;ENSP00000395929:P565A;ENSP00000343209:P296A;ENSP00000354310:P462A	.	P	+	1	0	NSD1	176569699	0.079000	0.21365	0.223000	0.23860	0.044000	0.14063	0.812000	0.27211	2.648000	0.89879	0.591000	0.81541	CCA	NSD1	-	NULL		0.438	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	C	NM_172349		176637093	+1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	0.004	G
NSD1	64324	genome.wustl.edu	37	5	176662835	176662835	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:176662835G>A	ENST00000439151.2	+	6	3855	c.3810G>A	c.(3808-3810)gaG>gaA	p.E1270E	NSD1_ENST00000354179.4_Silent_p.E1001E|NSD1_ENST00000347982.4_Silent_p.E1001E|NSD1_ENST00000361032.4_Silent_p.E1167E	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1270					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E1270D(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGCGGTCAGAGAAGAAACGCC	0.373			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	2	Substitution - Missense(2)	large_intestine(2)											57.0	60.0	59.0					5																	176662835		2203	4300	6503	SO:0001819	synonymous_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3810G>A	5.37:g.176662835G>A			Q96PD8|Q96RN7	Silent	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.E1270	ENST00000439151.2	37	c.3810	CCDS4412.1	5																																																																																			NSD1	-	NULL		0.373	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176662835	+1	no_errors	ENST00000439151	ensembl	human	known	70_37	silent	SNP	1.000	A
NTSR1	4923	genome.wustl.edu	37	20	61391560	61391560	+	Missense_Mutation	SNP	G	G	A	rs370016377		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr20:61391560G>A	ENST00000370501.3	+	4	1569	c.1198G>A	c.(1198-1200)Gac>Aac	p.D400N	NTSR1_ENST00000482259.1_3'UTR	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	400					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GAGGAAGGCCGACAGCGTGTC	0.662																																					GBM(37;400 780 6403 19663 35669)												0								A	ASN/ASP	0,4406		0,0,2203	109.0	87.0	95.0		1198	4.7	0.7	20		95	1,8599	818.8+/-406.8	0,1,4299	no	missense	NTSR1	NM_002531.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	400/419	61391560	1,13005	2203	4300	6503	SO:0001583	missense	4923				CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.1198G>A	20.37:g.61391560G>A	ENSP00000359532:p.Asp400Asn		Q9H4H1|Q9H4T5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NT1_rcpt,prints_GPCR_Rhodpsn,prints_NT_rcpt,prints_P2_purnocptor	p.D400N	ENST00000370501.3	37	c.1198	CCDS13502.1	20	.	.	.	.	.	.	.	.	.	.	A	0.595	-0.831222	0.02713	0.0	1.16E-4	ENSG00000101188	ENST00000370501	T	0.37235	1.21	4.71	4.71	0.59529	.	0.267486	0.36002	N	0.002844	T	0.16257	0.0391	N	0.08118	0	0.22050	N	0.999399	B	0.02656	0.0	B	0.01281	0.0	T	0.29488	-1.0010	10	0.07990	T	0.79	-18.8527	9.0733	0.36506	0.915:0.0:0.085:0.0	.	400	P30989	NTR1_HUMAN	N	400	ENSP00000359532:D400N	ENSP00000359532:D400N	D	+	1	0	NTSR1	60862005	1.000000	0.71417	0.737000	0.30932	0.020000	0.10135	2.971000	0.49248	0.653000	0.30826	-0.260000	0.10688	GAC	NTSR1	-	prints_NT1_rcpt		0.662	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTSR1	HGNC	protein_coding	OTTHUMT00000080061.1	G			61391560	+1	no_errors	ENST00000370501	ensembl	human	known	70_37	missense	SNP	1.000	A
NUF2	83540	genome.wustl.edu	37	1	163317606	163317606	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:163317606G>A	ENST00000271452.3	+	12	1281	c.1002G>A	c.(1000-1002)ttG>ttA	p.L334L	NUF2_ENST00000524800.1_Silent_p.L287L|NUF2_ENST00000367900.3_Silent_p.L334L	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	334	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TGAAGAAATTGAAGACTGAAG	0.333																																																	0													75.0	78.0	77.0					1																	163317606		2203	4300	6503	SO:0001819	synonymous_variant	83540			BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.1002G>A	1.37:g.163317606G>A			Q8WU69|Q96HJ4|Q96Q78	Silent	SNP	pfam_Kinetochore_Nuf2	p.L334	ENST00000271452.3	37	c.1002	CCDS1245.1	1																																																																																			NUF2	-	NULL		0.333	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NUF2	HGNC	protein_coding	OTTHUMT00000082812.1	G	NM_145697		163317606	+1	no_errors	ENST00000271452	ensembl	human	known	70_37	silent	SNP	0.923	A
OAT	4942	genome.wustl.edu	37	10	126097341	126097341	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:126097341G>A	ENST00000368845.5	-	3	485	c.393C>T	c.(391-393)ttC>ttT	p.F131F	OAT_ENST00000539214.1_5'UTR|OAT_ENST00000467675.1_5'UTR	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	131					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	TGTGGTAGTTGAAAAGTTTAG	0.289																																																	0													70.0	73.0	72.0					10																	126097341		2203	4300	6503	SO:0001819	synonymous_variant	4942			BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"""Ornithine aminotransferase"", ""ornithine aminotransferase precursor"", ""gyrate atrophy"""	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.393C>T	10.37:g.126097341G>A			D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Silent	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Orn_aminotrans	p.F131	ENST00000368845.5	37	c.393	CCDS7639.1	10																																																																																			OAT	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Orn_aminotrans		0.289	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAT	HGNC	protein_coding	OTTHUMT00000050863.1	G	NM_000274		126097341	-1	no_errors	ENST00000368845	ensembl	human	known	70_37	silent	SNP	1.000	A
OBSCN	84033	genome.wustl.edu	37	1	228492948	228492948	+	Intron	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:228492948C>T	ENST00000422127.1	+	44	11703				RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000570156.2_Silent_p.L4797L|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Silent_p.L1474L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGAAACCCTCAGAGATGGGG	0.562																																																	0													223.0	187.0	198.0					1																	228492948		876	1991	2867	SO:0001627	intron_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11660-1125C>T	1.37:g.228492948C>T			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.L1474	ENST00000422127.1	37	c.4422	CCDS58065.1	1																																																																																			OBSCN	-	pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.562	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228492948	+1	no_errors	ENST00000366707	ensembl	human	known	70_37	silent	SNP	0.045	T
OBSCN	84033	genome.wustl.edu	37	1	228556579	228556579	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:228556579G>A	ENST00000422127.1	+	89	19968	c.19924G>A	c.(19924-19926)Gaa>Aaa	p.E6642K	OBSCN_ENST00000570156.2_Missense_Mutation_p.E7599K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E4276K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6642	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCTGTGAGCGAAGCCTCCGA	0.612																																																	0													76.0	80.0	78.0					1																	228556579		2014	4174	6188	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.19924G>A	1.37:g.228556579G>A	ENSP00000409493:p.Glu6642Lys		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.E6642K	ENST00000422127.1	37	c.19924	CCDS58065.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.93|17.93	3.508445|3.508445	0.64410|0.64410	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000422127;ENST00000366707|ENST00000441106	T;T|.	0.64260|.	-0.09;-0.09|.	4.64|4.64	0.256|0.256	0.15567|0.15567	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.15176|0.15176	0.0366|0.0366	N|N	0.10664|0.10664	0.02|0.02	0.26062|0.26062	N|N	0.981334|0.981334	B|.	0.15473|.	0.013|.	B|.	0.12156|.	0.007|.	T|T	0.27020|0.27020	-1.0086|-1.0086	9|5	0.23891|.	T|.	0.37|.	.|.	4.4444|4.4444	0.11589|0.11589	0.3838:0.1723:0.4439:0.0|0.3838:0.1723:0.4439:0.0	.|.	6642|.	Q5VST9|.	OBSCN_HUMAN|.	K|Q	6642;4276|1258	ENSP00000409493:E6642K;ENSP00000355668:E4276K|.	ENSP00000355668:E4276K|.	E|R	+|+	1|2	0|0	OBSCN|OBSCN	226623202|226623202	0.841000|0.841000	0.29509|0.29509	0.997000|0.997000	0.53966|0.53966	0.771000|0.771000	0.43674|0.43674	2.298000|2.298000	0.43602|0.43602	0.194000|0.194000	0.20326|0.20326	0.462000|0.462000	0.41574|0.41574	GAA|CGA	OBSCN	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.612	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		G	NM_052843		228556579	+1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	0.477	A
ODC1	4953	genome.wustl.edu	37	2	10584290	10584290	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:10584290C>T	ENST00000234111.4	-	5	890	c.380G>A	c.(379-381)gGa>gAa	p.G127E	ODC1_ENST00000405333.1_Missense_Mutation_p.G127E|SNORA80B_ENST00000383906.1_RNA|ODC1_ENST00000446285.1_5'UTR	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	127					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	CATCTGGACTCCATTATTAGC	0.423																																																	0													192.0	203.0	199.0					2																	10584290		2203	4300	6503	SO:0001583	missense	4953				CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.380G>A	2.37:g.10584290C>T	ENSP00000234111:p.Gly127Glu		Q53TU3|Q6LDS9	Missense_Mutation	SNP	pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase	p.G127E	ENST00000234111.4	37	c.380	CCDS1672.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.182586	0.94885	.	.	ENSG00000115758	ENST00000234111;ENST00000405333	T;T	0.57907	0.37;0.37	5.28	5.28	0.74379	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.150991	0.64402	N	0.000013	T	0.81034	0.4739	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.86355	0.1713	10	0.66056	D	0.02	.	18.9102	0.92481	0.0:1.0:0.0:0.0	.	127	P11926	DCOR_HUMAN	E	127	ENSP00000234111:G127E;ENSP00000385333:G127E	ENSP00000234111:G127E	G	-	2	0	ODC1	10501741	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	6.009000	0.70745	2.461000	0.83175	0.591000	0.81541	GGA	ODC1	-	pfam_De-COase2_N,prints_Orn_de-COase		0.423	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODC1	HGNC	protein_coding	OTTHUMT00000206896.2	C			10584290	-1	no_errors	ENST00000234111	ensembl	human	known	70_37	missense	SNP	1.000	T
OR13C3	138803	genome.wustl.edu	37	9	107298423	107298423	+	Silent	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:107298423G>C	ENST00000374781.2	-	1	714	c.672C>G	c.(670-672)ctC>ctG	p.L224L		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TGATAATATTGAGGGATATAT	0.393																																					GBM(86;1248 1274 14222 15028 46219)												0													99.0	99.0	99.0					9																	107298423		2203	4300	6503	SO:0001819	synonymous_variant	138803				CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.672C>G	9.37:g.107298423G>C			Q5VVG1|Q6IF52	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L224	ENST00000374781.2	37	c.672	CCDS35089.1	9																																																																																			OR13C3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.393	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C3	HGNC	protein_coding	OTTHUMT00000053477.2	G			107298423	-1	no_errors	ENST00000374781	ensembl	human	known	70_37	silent	SNP	0.033	C
OR1F1	4992	genome.wustl.edu	37	16	3254273	3254273	+	Silent	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:3254273C>G	ENST00000304646.2	+	1	27	c.27C>G	c.(25-27)gtC>gtG	p.V9V	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	9					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						AGTCGAGTGTCTCCGAGTTCC	0.552																																																	0													42.0	42.0	42.0					16																	3254273		2197	4300	6497	SO:0001819	synonymous_variant	4992			Y14442	CCDS10496.1	16p13.3	2012-08-09			ENSG00000168124	ENSG00000168124		"""GPCR / Class A : Olfactory receptors"""	8194	protein-coding gene	gene with protein product		603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	Standard	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	O43749	OTTHUMG00000133153	ENST00000304646.2:c.27C>G	16.37:g.3254273C>G			O15246|Q6IFL5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V9	ENST00000304646.2	37	c.27	CCDS10496.1	16																																																																																			OR1F1	-	NULL		0.552	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1F1	HGNC	protein_coding	OTTHUMT00000206985.1	C			3254273	+1	no_errors	ENST00000304646	ensembl	human	known	70_37	silent	SNP	0.241	G
OR1L3	26735	genome.wustl.edu	37	9	125437562	125437562	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:125437562G>A	ENST00000304820.2	+	1	248	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TATCCACTCTGATCCTCGACT	0.433																																																	0													162.0	155.0	158.0					9																	125437562		2203	4300	6503	SO:0001583	missense	26735				CCDS35128.1	9q33.2	2013-09-20			ENSG00000171481	ENSG00000171481		"""GPCR / Class A : Olfactory receptors"""	8215	protein-coding gene	gene with protein product							Standard	NM_001005234		Approved	OR9-D	uc011lzb.2	Q8NH93	OTTHUMG00000020619	ENST00000304820.2:c.154G>A	9.37:g.125437562G>A	ENSP00000302863:p.Asp52Asn		B2RNF4|Q6IFN1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D52N	ENST00000304820.2	37	c.154	CCDS35128.1	9	.	.	.	.	.	.	.	.	.	.	G	6.531	0.466278	0.12402	.	.	ENSG00000171481	ENST00000304820	T	0.02837	4.14	4.54	2.66	0.31614	GPCR, rhodopsin-like superfamily (1);	0.171811	0.26307	U	0.025125	T	0.04452	0.0122	M	0.75777	2.31	0.09310	N	1	B	0.20164	0.042	B	0.22152	0.038	T	0.32214	-0.9915	10	0.66056	D	0.02	-0.4576	4.3174	0.11000	0.0861:0.1579:0.5924:0.1636	.	52	Q8NH93	OR1L3_HUMAN	N	52	ENSP00000302863:D52N	ENSP00000302863:D52N	D	+	1	0	OR1L3	124477383	0.000000	0.05858	0.026000	0.17262	0.181000	0.23173	0.210000	0.17455	0.653000	0.30826	0.644000	0.83932	GAT	OR1L3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.433	OR1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1L3	HGNC	protein_coding	OTTHUMT00000053950.1	G			125437562	+1	no_errors	ENST00000304820	ensembl	human	known	70_37	missense	SNP	0.000	A
OR4K1	79544	genome.wustl.edu	37	14	20404526	20404526	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:20404526C>G	ENST00000285600.4	+	1	760	c.701C>G	c.(700-702)tCt>tGt	p.S234C		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGTGGGTCATCTAAGGCTCTT	0.438																																																	0													132.0	124.0	126.0					14																	20404526		2203	4300	6503	SO:0001583	missense	79544				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.701C>G	14.37:g.20404526C>G	ENSP00000285600:p.Ser234Cys		B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S234C	ENST00000285600.4	37	c.701	CCDS32025.1	14	.	.	.	.	.	.	.	.	.	.	.	12.79	2.043872	0.36085	.	.	ENSG00000155249	ENST00000285600	T	0.00174	8.62	4.96	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.231712	0.30890	N	0.008664	T	0.00384	0.0012	M	0.62209	1.925	0.09310	N	1	P	0.44986	0.847	P	0.57846	0.828	T	0.42396	-0.9454	10	0.62326	D	0.03	.	11.1468	0.48434	0.0:0.9099:0.0:0.0901	.	234	Q8NGD4	OR4K1_HUMAN	C	234	ENSP00000285600:S234C	ENSP00000285600:S234C	S	+	2	0	OR4K1	19474366	0.000000	0.05858	0.934000	0.37439	0.636000	0.38137	-0.345000	0.07770	1.323000	0.45263	0.563000	0.77884	TCT	OR4K1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.438	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K1	HGNC	protein_coding	OTTHUMT00000409881.1	C			20404526	+1	no_errors	ENST00000285600	ensembl	human	known	70_37	missense	SNP	0.186	G
OR5H15	403274	genome.wustl.edu	37	3	97888338	97888338	+	Silent	SNP	G	G	A	rs371915983		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:97888338G>A	ENST00000356526.2	+	1	795	c.795G>A	c.(793-795)ccG>ccA	p.P265P		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CTGCATCTCCGCAAGCAGATG	0.443																																																	0								G		1,4405		0,1,2202	83.0	87.0	86.0		795	-3.6	0.0	3		86	0,8598		0,0,4299	no	coding-synonymous	OR5H15	NM_001005515.1		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		265/314	97888338	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	403274				CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.795G>A	3.37:g.97888338G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P265	ENST00000356526.2	37	c.795	CCDS33799.1	3																																																																																			OR5H15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.443	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H15	HGNC	protein_coding	OTTHUMT00000359109.1	G			97888338	+1	no_errors	ENST00000356526	ensembl	human	known	70_37	silent	SNP	0.000	A
OSCP1	127700	genome.wustl.edu	37	1	36904398	36904398	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:36904398G>A	ENST00000356637.5	-	3	319	c.256C>T	c.(256-258)Cat>Tat	p.H86Y	OSCP1_ENST00000354267.3_Missense_Mutation_p.H76Y|OSCP1_ENST00000235532.5_Missense_Mutation_p.H76Y|OSCP1_ENST00000315643.9_Missense_Mutation_p.H86Y|OSCP1_ENST00000433045.2_Missense_Mutation_p.H31Y			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	86					transport (GO:0006810)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						ATGGAGGCATGAGCCAGGCGC	0.458																																																	0													99.0	92.0	95.0					1																	36904398		2203	4300	6503	SO:0001583	missense	127700				CCDS409.1, CCDS410.1, CCDS409.2	1p34.3	2009-07-06	2009-07-06	2009-07-06	ENSG00000116885	ENSG00000116885			29971	protein-coding gene	gene with protein product	"""oxidored nitro domain containing protein"""	608854	"""chromosome 1 open reading frame 102"""	C1orf102		12477932	Standard	NM_145047		Approved	NOR1	uc001caq.3	Q8WVF1	OTTHUMG00000008139	ENST00000356637.5:c.256C>T	1.37:g.36904398G>A	ENSP00000349052:p.His86Tyr		A6NHM5|A6NHS9|A6NIN9|Q4AEJ0|Q8N7G2|Q8TDF1	Missense_Mutation	SNP	pfam_OSCP1	p.H76Y	ENST00000356637.5	37	c.226		1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935395	0.92458	.	.	ENSG00000116885	ENST00000235532;ENST00000356637;ENST00000433045;ENST00000445843;ENST00000315643;ENST00000354267	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.991;0.999;1.0	T	0.67696	-0.5604	10	0.66056	D	0.02	.	19.211	0.93755	0.0:0.0:1.0:0.0	.	76;76;86	Q8WVF1-4;Q8WVF1-3;Q8WVF1	.;.;OSCP1_HUMAN	Y	76;86;31;46;86;76	ENSP00000235532:H76Y;ENSP00000349052:H86Y;ENSP00000390820:H31Y;ENSP00000396417:H46Y;ENSP00000314541:H86Y;ENSP00000346216:H76Y	ENSP00000235532:H76Y	H	-	1	0	OSCP1	36676985	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.789000	0.95967	0.655000	0.94253	CAT	OSCP1	-	pfam_OSCP1		0.458	OSCP1-010	NOVEL	not_organism_supported|basic	protein_coding	OSCP1	HGNC	protein_coding	OTTHUMT00000389759.1	G	NM_145047		36904398	-1	no_errors	ENST00000235532	ensembl	human	known	70_37	missense	SNP	1.000	A
OXTR	5021	genome.wustl.edu	37	3	8809218	8809218	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:8809218C>T	ENST00000316793.3	-	3	1280	c.656G>A	c.(655-657)tGc>tAc	p.C219Y	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	219					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	AAGGCCGTAGCAGGCAGCGAG	0.652																																																	0													35.0	34.0	34.0					3																	8809218		2203	4299	6502	SO:0001583	missense	5021				CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.656G>A	3.37:g.8809218C>T	ENSP00000324270:p.Cys219Tyr		Q15071	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Oxytocn_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn	p.C219Y	ENST00000316793.3	37	c.656	CCDS2570.1	3	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782392	0.90282	.	.	ENSG00000180914	ENST00000316793	T	0.42131	0.98	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.76111	0.3942	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.84540	0.0638	10	0.87932	D	0	-47.6959	17.4792	0.87668	0.0:1.0:0.0:0.0	.	219	P30559	OXYR_HUMAN	Y	219	ENSP00000324270:C219Y	ENSP00000324270:C219Y	C	-	2	0	OXTR	8784218	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.749000	0.85096	2.466000	0.83321	0.561000	0.74099	TGC	OXTR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn		0.652	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXTR	HGNC	protein_coding	OTTHUMT00000207061.2	C			8809218	-1	no_errors	ENST00000316793	ensembl	human	known	70_37	missense	SNP	1.000	T
P4HA2	8974	genome.wustl.edu	37	5	131554244	131554244	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:131554244A>T	ENST00000401867.1	-	3	644	c.76T>A	c.(76-78)Tct>Act	p.S26T	P4HA2_ENST00000379086.1_Missense_Mutation_p.S26T|P4HA2_ENST00000379100.2_Missense_Mutation_p.S26T|P4HA2_ENST00000360568.3_Missense_Mutation_p.S26T|P4HA2_ENST00000379104.2_Missense_Mutation_p.S26T|P4HA2_ENST00000166534.4_Missense_Mutation_p.S26T			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	26					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	GTACCAATAGAGGTGAAGAAT	0.532																																					Esophageal Squamous(68;117 1135 17362 19256 34242)												0													136.0	98.0	111.0					5																	131554244		2203	4300	6503	SO:0001583	missense	8974			U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.76T>A	5.37:g.131554244A>T	ENSP00000384999:p.Ser26Thr		D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S26T	ENST00000401867.1	37	c.76	CCDS4151.1	5	.	.	.	.	.	.	.	.	.	.	A	34	5.339507	0.95783	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100;ENST00000417528;ENST00000431054;ENST00000439698;ENST00000395164;ENST00000453286;ENST00000428369;ENST00000418055;ENST00000416053;ENST00000428841	T;T;T;T;T;T	0.56941	0.44;0.43;0.44;0.43;0.44;0.43	6.17	6.17	0.99709	Prolyl 4-hydroxylase alpha-subunit, N-terminal (1);	0.110136	0.64402	D	0.000005	T	0.69940	0.3167	M	0.79258	2.445	0.80722	D	1	P;P	0.43412	0.806;0.768	P;P	0.54401	0.751;0.697	T	0.72972	-0.4129	10	0.87932	D	0	-22.2559	16.4837	0.84171	1.0:0.0:0.0:0.0	.	26;26	O15460;O15460-2	P4HA2_HUMAN;.	T	26;26;26;26;26;26;26;58;26;26;26;26;26;26;26	ENSP00000384999:S26T;ENSP00000368379:S26T;ENSP00000166534:S26T;ENSP00000353772:S26T;ENSP00000368398:S26T;ENSP00000368394:S26T	ENSP00000166534:S26T	S	-	1	0	P4HA2	131582143	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.520000	0.73773	2.371000	0.80710	0.533000	0.62120	TCT	P4HA2	-	pfam_Pro_4_hyd_alph_N		0.532	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P4HA2	HGNC	protein_coding	OTTHUMT00000132653.4	A	NM_004199		131554244	-1	no_errors	ENST00000166534	ensembl	human	known	70_37	missense	SNP	1.000	T
PADI2	11240	genome.wustl.edu	37	1	17422424	17422424	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:17422424C>A	ENST00000375486.4	-	4	454	c.391G>T	c.(391-393)Gag>Tag	p.E131*	PADI2_ENST00000444885.2_Nonsense_Mutation_p.E131*|PADI2_ENST00000375481.1_Nonsense_Mutation_p.E131*	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	131					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TTGTTCTTCTCCACCACACCA	0.617																																																	0													213.0	183.0	193.0					1																	17422424		2203	4300	6503	SO:0001587	stop_gained	11240			AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.391G>T	1.37:g.17422424C>A	ENSP00000364635:p.Glu131*		Q96DA7|Q9UPN2	Nonsense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.E131*	ENST00000375486.4	37	c.391	CCDS177.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.492911	0.97612	.	.	ENSG00000117115	ENST00000375486;ENST00000444885;ENST00000375481	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-43.5951	19.2273	0.93822	0.0:1.0:0.0:0.0	.	.	.	.	X	131	.	ENSP00000364630:E131X	E	-	1	0	PADI2	17295011	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.162000	0.58177	2.894000	0.99253	0.655000	0.94253	GAG	PADI2	-	pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub		0.617	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI2	HGNC	protein_coding	OTTHUMT00000006624.1	C			17422424	-1	no_errors	ENST00000375486	ensembl	human	known	70_37	nonsense	SNP	1.000	A
PADI1	29943	genome.wustl.edu	37	1	17559361	17559361	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:17559361C>T	ENST00000375471.4	+	11	1301	c.1209C>T	c.(1207-1209)ccC>ccT	p.P403P	PADI1_ENST00000413717.2_5'Flank|PADI1_ENST00000536552.1_5'Flank|PADI1_ENST00000537499.1_5'Flank	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	403					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	TCCCTGGTCCCTCCAGCCTTG	0.637																																					Esophageal Squamous(80;414 1257 4580 27746 50832)												0													38.0	36.0	37.0					1																	17559361		2203	4300	6503	SO:0001819	synonymous_variant	29943			AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1209C>T	1.37:g.17559361C>T			A1L4K6|Q70SX6	Silent	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.P403	ENST00000375471.4	37	c.1209	CCDS178.1	1																																																																																			PADI1	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub		0.637	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI1	HGNC	protein_coding	OTTHUMT00000006621.1	C	NM_013358		17559361	+1	no_errors	ENST00000375471	ensembl	human	known	70_37	silent	SNP	0.525	T
PAN3	255967	genome.wustl.edu	37	13	28841480	28841480	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr13:28841480G>A	ENST00000380958.3	+	12	1886	c.1734G>A	c.(1732-1734)atG>atA	p.M578I	PAN3_ENST00000282391.5_Missense_Mutation_p.M266I|PAN3_ENST00000399613.1_Missense_Mutation_p.M378I	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GAGAAACTATGATGAGCAGAC	0.373																																																	0													139.0	129.0	132.0					13																	28841480		2203	4300	6503	SO:0001583	missense	255967			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1734G>A	13.37:g.28841480G>A	ENSP00000370345:p.Met578Ile			Missense_Mutation	SNP	superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_cat_dom	p.M578I	ENST00000380958.3	37	c.1734	CCDS9329.2	13	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189975	0.58017	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.18174	2.23;2.23;2.23	5.56	5.56	0.83823	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.112151	0.85682	D	0.000000	T	0.16685	0.0401	N	0.25890	0.77	0.80722	D	1	B;B;B;B	0.26775	0.022;0.04;0.035;0.159	B;B;B;B	0.26517	0.022;0.019;0.016;0.07	T	0.04178	-1.0971	10	0.87932	D	0	-3.2194	19.5331	0.95237	0.0:0.0:1.0:0.0	.	578;578;266;524	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	I	578;378;266	ENSP00000370345:M578I;ENSP00000382522:M378I;ENSP00000282391:M266I	ENSP00000282391:M266I	M	+	3	0	PAN3	27739480	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.876000	0.87215	2.626000	0.88956	0.650000	0.86243	ATG	PAN3	-	superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom		0.373	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN3	HGNC	protein_coding	OTTHUMT00000044318.4	G	NM_175854		28841480	+1	no_errors	ENST00000380958	ensembl	human	known	70_37	missense	SNP	1.000	A
PATL2	197135	genome.wustl.edu	37	15	44965451	44965451	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr15:44965451G>A	ENST00000560775.1	-	4	487	c.428C>T	c.(427-429)tCg>tTg	p.S143L	PATL2_ENST00000558573.1_5'Flank|PATL2_ENST00000560780.1_5'UTR|PATL2_ENST00000434130.1_Missense_Mutation_p.S143L			C9JE40	PATL2_HUMAN	protein associated with topoisomerase II homolog 2 (yeast)	143					negative regulation of cytoplasmic mRNA processing body assembly (GO:0010607)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	RNA binding (GO:0003723)			kidney(2)|stomach(1)	3						AGGGGGCCACGAGGTCAGCAG	0.612																																																	0													67.0	70.0	69.0					15																	44965451		687	1589	2276	SO:0001583	missense	197135			BC036924	CCDS45253.1	15q21.1	2010-06-04			ENSG00000229474	ENSG00000229474			33630	protein-coding gene	gene with protein product		614661				17936923	Standard	NM_001145112		Approved		uc010uej.2	C9JE40		ENST00000560775.1:c.428C>T	15.37:g.44965451G>A	ENSP00000453915:p.Ser143Leu			Missense_Mutation	SNP	pfam_Topo_II-assoc_PAT1	p.S143L	ENST00000560775.1	37	c.428	CCDS45253.1	15	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243419	0.39697	.	.	ENSG00000229474	ENST00000434130	T	0.18016	2.24	5.25	5.25	0.73442	.	.	.	.	.	T	0.28532	0.0706	M	0.69823	2.125	0.29480	N	0.856412	D	0.57571	0.98	P	0.48704	0.587	T	0.13019	-1.0525	9	0.30854	T	0.27	-21.5241	14.3525	0.66713	0.0:0.0:1.0:0.0	.	143	C9JE40	PATL2_HUMAN	L	143	ENSP00000416673:S143L	ENSP00000416673:S143L	S	-	2	0	PATL2	42752743	0.996000	0.38824	0.689000	0.30133	0.134000	0.20937	2.832000	0.48152	2.463000	0.83235	0.462000	0.41574	TCG	PATL2	-	NULL		0.612	PATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATL2	HGNC	protein_coding	OTTHUMT00000415947.1	G	NM_001145112		44965451	-1	no_errors	ENST00000434130	ensembl	human	known	70_37	missense	SNP	0.924	A
PBX2	5089	genome.wustl.edu	37	6	32154666	32154666	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:32154666G>C	ENST00000375050.4	-	7	1307	c.1037C>G	c.(1036-1038)tCt>tGt	p.S346C	AGER_ENST00000375076.4_5'Flank|AGER_ENST00000538695.1_5'Flank|AGER_ENST00000375055.2_5'Flank|XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000375065.5_5'Flank|AGER_ENST00000375069.3_5'Flank|AGER_ENST00000438221.2_5'Flank|AGER_ENST00000375070.3_5'Flank|AGER_ENST00000375067.3_5'Flank	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	346					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GAGATTGAAAGAGCCGCCAGA	0.532																																																	0													48.0	50.0	49.0					6																	32154666		2203	4300	6503	SO:0001583	missense	5089				CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.1037C>G	6.37:g.32154666G>C	ENSP00000364190:p.Ser346Cys		A2BFJ2	Missense_Mutation	SNP	pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S346C	ENST00000375050.4	37	c.1037	CCDS4748.1	6	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372300	0.82573	.	.	ENSG00000204304	ENST00000375050	D	0.89343	-2.5	4.99	4.99	0.66335	.	0.000000	0.49916	D	0.000124	D	0.93216	0.7839	M	0.77103	2.36	0.52099	D	0.999949	D	0.89917	1.0	D	0.70935	0.971	D	0.93686	0.7003	10	0.72032	D	0.01	-14.0141	15.8213	0.78648	0.0:0.0:1.0:0.0	.	346	P40425	PBX2_HUMAN	C	346	ENSP00000364190:S346C	ENSP00000364190:S346C	S	-	2	0	PBX2	32262644	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.150000	0.77403	2.606000	0.88127	0.561000	0.74099	TCT	PBX2	-	NULL		0.532	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBX2	HGNC	protein_coding	OTTHUMT00000076194.4	G			32154666	-1	no_errors	ENST00000375050	ensembl	human	known	70_37	missense	SNP	1.000	C
PCDHB14	56122	genome.wustl.edu	37	5	140604874	140604874	+	Silent	SNP	C	C	T	rs200070769		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:140604874C>T	ENST00000239449.4	+	1	1797	c.1797C>T	c.(1795-1797)aaC>aaT	p.N599N	PCDHB14_ENST00000515856.2_Silent_p.N446N	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	599	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGCCAGAACGCCTGGCTGT	0.726																																					Ovarian(141;50 1831 27899 33809 37648)												0													4.0	6.0	5.0					5																	140604874		1206	2708	3914	SO:0001819	synonymous_variant	56122			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1797C>T	5.37:g.140604874C>T			B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N599	ENST00000239449.4	37	c.1797	CCDS4256.1	5																																																																																			PCDHB14	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.726	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	C	NM_018934		140604874	+1	no_errors	ENST00000239449	ensembl	human	known	70_37	silent	SNP	1.000	T
PCDHGB4	8641	genome.wustl.edu	37	5	140768001	140768001	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:140768001G>C	ENST00000519479.1	+	1	550	c.550G>C	c.(550-552)Gag>Cag	p.E184Q	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	184	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATAAATAAAGAGAAATCAGA	0.408																																																	0													63.0	63.0	63.0					5																	140768001		1917	4129	6046	SO:0001583	missense	8641			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.550G>C	5.37:g.140768001G>C	ENSP00000428288:p.Glu184Gln		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E184Q	ENST00000519479.1	37	c.550	CCDS54928.1	5	.	.	.	.	.	.	.	.	.	.	.	4.764	0.142009	0.09083	.	.	ENSG00000253953	ENST00000519479	T	0.54071	0.59	4.99	4.12	0.48240	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.42154	0.1190	L	0.45422	1.42	0.09310	N	1	B;B	0.19583	0.009;0.037	B;B	0.29267	0.06;0.1	T	0.33163	-0.9879	9	0.28530	T	0.3	.	3.7548	0.08581	0.2887:0.0:0.5407:0.1707	.	184;184	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	Q	184	ENSP00000428288:E184Q	ENSP00000428288:E184Q	E	+	1	0	PCDHGB4	140748185	0.017000	0.18338	0.696000	0.30242	0.332000	0.28634	2.073000	0.41519	1.225000	0.43566	0.655000	0.94253	GAG	PCDHGB4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.408	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	HGNC	protein_coding	OTTHUMT00000374745.1	G	NM_003736		140768001	+1	no_errors	ENST00000519479	ensembl	human	known	70_37	missense	SNP	0.003	C
PCLO	27445	genome.wustl.edu	37	7	82581809	82581809	+	Missense_Mutation	SNP	C	C	T	rs267601593		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:82581809C>T	ENST00000333891.9	-	5	8797	c.8460G>A	c.(8458-8460)atG>atA	p.M2820I	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.M2820I	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTGGTGTTGTCATTGCATGTT	0.478																																																	0													234.0	198.0	209.0					7																	82581809		2067	4217	6284	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8460G>A	7.37:g.82581809C>T	ENSP00000334319:p.Met2820Ile			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.M2820I	ENST00000333891.9	37	c.8460	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	0.379	-0.929957	0.02359	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16743	2.32;2.33	5.69	-1.06	0.10002	.	.	.	.	.	T	0.12732	0.0309	L	0.34521	1.04	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.26326	-1.0106	9	0.87932	D	0	.	8.9711	0.35908	0.0:0.6722:0.1077:0.2201	.	2820;2820	Q9Y6V0-5;Q9Y6V0-6	.;.	I	2751;2820;2820	ENSP00000334319:M2820I;ENSP00000388393:M2820I	ENSP00000334319:M2820I	M	-	3	0	PCLO	82419745	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-0.137000	0.10389	-0.559000	0.06110	0.655000	0.94253	ATG	PCLO	-	NULL		0.478	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	C	NM_014510		82581809	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	0.000	T
PDE10A	10846	genome.wustl.edu	37	6	165801877	165801877	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:165801877G>A	ENST00000366882.1	-	18	1846	c.1692C>T	c.(1690-1692)taC>taT	p.Y564Y	PDE10A_ENST00000354448.4_Silent_p.Y564Y|PDE10A_ENST00000539869.2_Silent_p.Y574Y			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	564					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	ACTTCTGCAGGTAGCTGTTAC	0.512																																					Esophageal Squamous(22;308 615 5753 12038 40624)												0													145.0	122.0	130.0					6																	165801877		2203	4300	6503	SO:0001819	synonymous_variant	10846			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1692C>T	6.37:g.165801877G>A			Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.Y574	ENST00000366882.1	37	c.1722		6																																																																																			PDE10A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase		0.512	PDE10A-001	PUTATIVE	basic	protein_coding	PDE10A	HGNC	protein_coding	OTTHUMT00000043031.1	G			165801877	-1	no_errors	ENST00000539869	ensembl	human	known	70_37	silent	SNP	1.000	A
PDE4B	5142	genome.wustl.edu	37	1	66833405	66833405	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:66833405G>A	ENST00000329654.4	+	14	1598	c.1411G>A	c.(1411-1413)Gat>Aat	p.D471N	PDE4B_ENST00000371045.5_Missense_Mutation_p.D299N|PDE4B_ENST00000480109.2_Missense_Mutation_p.D238N|PDE4B_ENST00000423207.2_Missense_Mutation_p.D456N|PDE4B_ENST00000371049.3_Missense_Mutation_p.D471N	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	471					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	GATGTATAATGATGAATCTGT	0.358																																																	0													144.0	141.0	142.0					1																	66833405		2203	4300	6503	SO:0001583	missense	5142			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.1411G>A	1.37:g.66833405G>A	ENSP00000332116:p.Asp471Asn		A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.D471N	ENST00000329654.4	37	c.1411	CCDS632.1	1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989460	0.93106	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000371045;ENST00000480109	T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	5.41	5.41	0.78517	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.85035	0.5605	M	0.78049	2.395	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.989;0.999;1.0;1.0;1.0	D	0.84307	0.0508	10	0.51188	T	0.08	.	19.3843	0.94550	0.0:0.0:1.0:0.0	.	238;456;341;461;471	A5YW33;Q07343-3;Q13945;Q59GM8;Q07343	.;.;.;.;PDE4B_HUMAN	N	471;471;471;456;299;238	ENSP00000332116:D471N;ENSP00000342637:D471N;ENSP00000360088:D471N;ENSP00000392947:D456N;ENSP00000360084:D299N;ENSP00000432592:D238N	ENSP00000332116:D471N	D	+	1	0	PDE4B	66605993	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.657000	0.98554	2.814000	0.96858	0.591000	0.81541	GAT	PDE4B	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom		0.358	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	HGNC	protein_coding	OTTHUMT00000025188.3	G	NM_002600		66833405	+1	no_errors	ENST00000329654	ensembl	human	known	70_37	missense	SNP	1.000	A
PDLIM3	27295	genome.wustl.edu	37	4	186425697	186425697	+	Silent	SNP	C	C	T	rs199895839		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:186425697C>T	ENST00000284770.5	-	7	910	c.837G>A	c.(835-837)acG>acA	p.T279T	PDLIM3_ENST00000284771.6_Silent_p.T231T|PDLIM3_ENST00000284767.5_3'UTR	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	279					actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CATGGACTTTCGTCACCGGAG	0.537																																																	0													67.0	59.0	62.0					4																	186425697		2203	4300	6503	SO:0001819	synonymous_variant	27295			AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.837G>A	4.37:g.186425697C>T			B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Silent	SNP	pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.T279	ENST00000284770.5	37	c.837	CCDS3844.1	4																																																																																			PDLIM3	-	NULL		0.537	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	PDLIM3	HGNC	protein_coding	OTTHUMT00000360499.2	C	NM_014476		186425697	-1	no_errors	ENST00000284770	ensembl	human	known	70_37	silent	SNP	0.925	T
PDP1	54704	genome.wustl.edu	37	8	94934923	94934923	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:94934923G>C	ENST00000297598.4	+	2	905	c.636G>C	c.(634-636)ttG>ttC	p.L212F	PDP1_ENST00000517764.1_Missense_Mutation_p.L212F|PDP1_ENST00000520728.1_Missense_Mutation_p.L212F|PDP1_ENST00000396200.3_Missense_Mutation_p.L237F	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	212					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TTAACAGCTTGAGGACTTACT	0.463																																																	0													113.0	108.0	110.0					8																	94934923		2203	4300	6503	SO:0001583	missense	54704			AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.636G>C	8.37:g.94934923G>C	ENSP00000297598:p.Leu212Phe		B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.L237F	ENST00000297598.4	37	c.711	CCDS6259.1	8	.	.	.	.	.	.	.	.	.	.	G	9.754	1.168163	0.21621	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764;ENST00000518827	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	6.16	3.31	0.37934	Protein phosphatase 2C-like (4);	0.139412	0.48767	D	0.000171	T	0.30823	0.0777	L	0.43757	1.38	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.05716	-1.0868	10	0.32370	T	0.25	-1.8726	5.0654	0.14580	0.2985:0.0:0.5645:0.137	.	263;212	B4DYX8;Q9P0J1	.;PDP1_HUMAN	F	212;212;237;212;212	ENSP00000297598:L212F;ENSP00000428317:L212F;ENSP00000379503:L237F;ENSP00000430380:L212F	ENSP00000297598:L212F	L	+	3	2	PDP1	95004099	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.970000	0.29383	0.421000	0.25980	0.650000	0.86243	TTG	PDP1	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like		0.463	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDP1	HGNC	protein_coding	OTTHUMT00000378415.2	G	NM_018444		94934923	+1	no_errors	ENST00000396200	ensembl	human	known	70_37	missense	SNP	1.000	C
PHC1	1911	genome.wustl.edu	37	12	9091972	9091972	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:9091972G>C	ENST00000543824.1	+	16	3264	c.2932G>C	c.(2932-2934)Gaa>Caa	p.E978Q	PHC1_ENST00000544916.1_Missense_Mutation_p.E978Q|PHC1_ENST00000536844.1_Missense_Mutation_p.E584Q|PHC1_ENST00000433083.2_Missense_Mutation_p.E933Q			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	978	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						ACTTAAAGAAGAACATCTTAT	0.468																																																	0													45.0	43.0	44.0					12																	9091972		2202	4288	6490	SO:0001583	missense	1911			U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2932G>C	12.37:g.9091972G>C	ENSP00000440674:p.Glu978Gln		D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.E978Q	ENST00000543824.1	37	c.2932	CCDS8597.1	12	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574503	0.65878	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.42	5.42	0.78866	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.64402	D	0.000001	T	0.70055	0.3180	L	0.54965	1.715	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.71882	-0.4458	10	0.72032	D	0.01	-14.4841	18.8335	0.92151	0.0:0.0:1.0:0.0	.	978	P78364	PHC1_HUMAN	Q	978;978;933;978;584	ENSP00000440674:E978Q;ENSP00000251757:E978Q;ENSP00000399194:E933Q;ENSP00000437659:E978Q;ENSP00000440488:E584Q	ENSP00000251757:E978Q	E	+	1	0	PHC1	8983239	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.549000	0.85964	0.650000	0.86243	GAA	PHC1	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.468	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHC1	HGNC	protein_coding	OTTHUMT00000399115.1	G	NM_004426		9091972	+1	no_errors	ENST00000251757	ensembl	human	known	70_37	missense	SNP	1.000	C
PDZRN4	29951	genome.wustl.edu	37	12	41966808	41966808	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:41966808G>A	ENST00000402685.2	+	10	2235	c.2227G>A	c.(2227-2229)Gag>Aag	p.E743K	PDZRN4_ENST00000298919.7_Missense_Mutation_p.E483K|PDZRN4_ENST00000539469.2_Missense_Mutation_p.E485K	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	743							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E485K(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CAACACAGCTGAGAGCTGCAG	0.458																																																	1	Substitution - Missense(1)	large_intestine(1)											107.0	105.0	106.0					12																	41966808		2203	4300	6503	SO:0001583	missense	29951			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2227G>A	12.37:g.41966808G>A	ENSP00000384197:p.Glu743Lys		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.E743K	ENST00000402685.2	37	c.2227	CCDS53777.1	12	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882109	0.91740	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	D;T;T	0.83419	-1.72;2.82;2.8	4.99	4.99	0.66335	.	0.081432	0.50627	D	0.000102	D	0.92479	0.7612	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.991;0.994	D	0.93428	0.6783	10	0.87932	D	0	-32.5336	19.1701	0.93574	0.0:0.0:1.0:0.0	.	743;483;485	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	K	743;485;483	ENSP00000384197:E743K;ENSP00000439990:E485K;ENSP00000298919:E483K	ENSP00000298919:E483K	E	+	1	0	PDZRN4	40253075	1.000000	0.71417	0.914000	0.36105	0.978000	0.69477	9.813000	0.99286	2.706000	0.92434	0.650000	0.86243	GAG	PDZRN4	-	NULL		0.458	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN4	HGNC	protein_coding	OTTHUMT00000403701.1	G	NM_013377		41966808	+1	no_errors	ENST00000402685	ensembl	human	known	70_37	missense	SNP	1.000	A
PHLDB3	653583	genome.wustl.edu	37	19	44008063	44008063	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:44008063C>T	ENST00000292140.5	-	2	568	c.208G>A	c.(208-210)Gac>Aac	p.D70N	PHLDB3_ENST00000599242.1_Missense_Mutation_p.D70N	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	70							enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CTCACCGCGTCGCGGCTGCTC	0.662																																																	0													37.0	39.0	38.0					19																	44008063		2203	4300	6503	SO:0001583	missense	653583				CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"""Pleckstrin homology (PH) domain containing"""	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.208G>A	19.37:g.44008063C>T	ENSP00000292140:p.Asp70Asn		Q8N7Z4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D70N	ENST00000292140.5	37	c.208	CCDS12621.2	19	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082067	0.76528	.	.	ENSG00000176531	ENST00000292140	T	0.55588	0.51	4.76	3.72	0.42706	.	1.371530	0.04580	N	0.394729	T	0.41096	0.1144	L	0.29908	0.895	0.23628	N	0.997252	P;B	0.34462	0.454;0.014	B;B	0.23852	0.049;0.005	T	0.35201	-0.9798	10	0.52906	T	0.07	.	9.3029	0.37856	0.0:0.899:0.0:0.101	.	70;70	Q6NSJ2-2;Q6NSJ2	.;PHLB3_HUMAN	N	70	ENSP00000292140:D70N	ENSP00000292140:D70N	D	-	1	0	PHLDB3	48699903	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	1.489000	0.35562	1.157000	0.42530	0.298000	0.19748	GAC	PHLDB3	-	NULL		0.662	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB3	HGNC	protein_coding	OTTHUMT00000319643.2	C			44008063	-1	no_errors	ENST00000292140	ensembl	human	known	70_37	missense	SNP	0.998	T
PIGC	5279	genome.wustl.edu	37	1	172412936	172412936	+	5'UTR	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:172412936G>A	ENST00000367728.1	-	0	290				PIGC_ENST00000484368.1_Intron|C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000258324.1_Intron|PIGC_ENST00000344529.4_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						CCCGCCCGCAGAGTGGGGCTG	0.682											OREG0013986	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001623	5_prime_UTR_variant	5279			BC006539	CCDS1302.1	1q23-q25	2013-02-26	2006-06-28		ENSG00000135845	ENSG00000135845	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	8960	protein-coding gene	gene with protein product	"""phosphatidylinositol N-acetylglucosaminyltransferase"""	601730	"""phosphatidylinositol glycan, class C"""			8806613, 9325057	Standard	NM_153747		Approved		uc001gio.3	Q92535	OTTHUMG00000034751	ENST00000367728.1:c.-1174C>T	1.37:g.172412936G>A		1900	O14491	RNA	SNP	-	NULL	ENST00000367728.1	37	NULL	CCDS1302.1	1																																																																																			PIGC	-	-		0.682	PIGC-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIGC	HGNC	protein_coding	OTTHUMT00000084068.1	G	NM_153747		172412936	-1	no_errors	ENST00000478184	ensembl	human	known	70_37	rna	SNP	0.002	A
PIGG	54872	genome.wustl.edu	37	4	524319	524319	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:524319G>C	ENST00000453061.2	+	11	2462	c.2356G>C	c.(2356-2358)Gac>Cac	p.D786H	PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000504346.1_Missense_Mutation_p.D697H|PIGG_ENST00000383028.4_Missense_Mutation_p.D653H|PIGG_ENST00000310340.5_Missense_Mutation_p.D778H	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	786					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CATTGCTGCAGACTTCAAACT	0.398																																																	0													189.0	188.0	188.0					4																	524319		2203	4300	6503	SO:0001583	missense	54872				CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2356G>C	4.37:g.524319G>C	ENSP00000415203:p.Asp786His		B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.D786H	ENST00000453061.2	37	c.2356	CCDS46992.1	4	.	.	.	.	.	.	.	.	.	.	G	14.50	2.552658	0.45487	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028	T;T;T;T	0.10763	3.16;3.17;2.84;2.84	5.62	4.78	0.61160	.	0.230855	0.50627	D	0.000117	T	0.26231	0.0640	M	0.68317	2.08	0.80722	D	1	D;D;D	0.76494	0.999;0.976;0.986	D;P;P	0.68039	0.955;0.713;0.851	T	0.05022	-1.0911	10	0.18276	T	0.48	-7.3647	12.5198	0.56052	0.0813:0.0:0.9186:0.0	.	653;786;778	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	H	778;786;697;653	ENSP00000311750:D778H;ENSP00000415203:D786H;ENSP00000424800:D697H;ENSP00000372494:D653H	ENSP00000311750:D778H	D	+	1	0	PIGG	514319	1.000000	0.71417	0.003000	0.11579	0.328000	0.28507	8.862000	0.92283	1.498000	0.48600	0.655000	0.94253	GAC	PIGG	-	NULL		0.398	PIGG-001	KNOWN	basic|CCDS	protein_coding	PIGG	HGNC	protein_coding	OTTHUMT00000357494.1	G	NM_017733		524319	+1	no_errors	ENST00000453061	ensembl	human	known	70_37	missense	SNP	0.129	C
PIK3C2G	5288	genome.wustl.edu	37	12	18552709	18552709	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:18552709C>T	ENST00000266497.5	+	14	2158	c.2120C>T	c.(2119-2121)tCa>tTa	p.S707L	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.S748L|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.S707L			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	707	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AGGACTGTTTCAGAAATGCAT	0.393																																																	0													86.0	85.0	86.0					12																	18552709		1849	4094	5943	SO:0001583	missense	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2120C>T	12.37:g.18552709C>T	ENSP00000266497:p.Ser707Leu		A1L3U0	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.S748L	ENST00000266497.5	37	c.2243	CCDS44839.1	12	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671693	0.47781	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.63580	-0.05;-0.05;-0.05	5.08	3.11	0.35812	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.102199	0.42172	D	0.000751	T	0.53334	0.1790	L	0.45422	1.42	0.34145	D	0.66686	P;P;P	0.40534	0.72;0.673;0.58	B;B;B	0.40864	0.342;0.231;0.342	T	0.65660	-0.6114	10	0.39692	T	0.17	-2.4094	11.044	0.47849	0.0:0.8249:0.0:0.1751	.	747;748;707	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	L	707;707;748	ENSP00000404845:S707L;ENSP00000266497:S707L;ENSP00000445381:S748L	ENSP00000266497:S707L	S	+	2	0	PIK3C2G	18443976	0.793000	0.28825	0.691000	0.30163	0.983000	0.72400	0.748000	0.26305	1.373000	0.46208	0.585000	0.79938	TCA	PIK3C2G	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.393	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	HGNC	protein_coding	OTTHUMT00000401316.1	C	NM_004570		18552709	+1	no_errors	ENST00000538779	ensembl	human	known	70_37	missense	SNP	0.917	T
PKD1	5310	genome.wustl.edu	37	16	2169358	2169358	+	Silent	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:2169358G>C	ENST00000262304.4	-	2	445	c.237C>G	c.(235-237)ctC>ctG	p.L79L	RP11-304L19.2_ENST00000562027.1_RNA|PKD1_ENST00000423118.1_Silent_p.L79L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	79					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCAGCGCCCGGAGCAGGTTGT	0.677																																																	0													1.0	1.0	1.0					16																	2169358		544	1105	1649	SO:0001819	synonymous_variant	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.237C>G	16.37:g.2169358G>C			Q15140|Q15141	Silent	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.L79	ENST00000262304.4	37	c.237	CCDS32369.1	16																																																																																			PKD1	-	smart_Leu-rich_rpt_typical-subtyp		0.677	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2169358	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	silent	SNP	0.965	C
PDXDC1	23042	genome.wustl.edu	37	16	15227409	15227409	+	Intron	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:15227409G>A	ENST00000535621.2	+	17	1587				RP11-1186N24.5_ENST00000605794.1_RNA|PKD1P6_ENST00000424133.2_RNA			Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1						carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGCCCACCTCGAAGTGTGGCC	0.697																																																	0																																										SO:0001627	intron_variant	353511			AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000535621.2:c.1400-5327G>A	16.37:g.15227409G>A			B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	RNA	SNP	-	NULL	ENST00000535621.2	37	NULL		16																																																																																			PKD1P6	-	-		0.697	PDXDC1-016	PUTATIVE	basic	protein_coding	PKD1P6	HGNC	protein_coding	OTTHUMT00000422421.1	G	NM_015027		15227409	-1	no_errors	ENST00000540075	ensembl	human	known	70_37	rna	SNP	0.994	A
PKNOX1	5316	genome.wustl.edu	37	21	44448897	44448897	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr21:44448897C>T	ENST00000291547.5	+	10	1223	c.1012C>T	c.(1012-1014)Cag>Tag	p.Q338*	PKNOX1_ENST00000432907.2_Nonsense_Mutation_p.Q221*|PKNOX1_ENST00000607150.1_3'UTR	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	338					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						AAAAACTGCTCAGAACCGGCC	0.502																																																	0													107.0	119.0	115.0					21																	44448897		2203	4300	6503	SO:0001587	stop_gained	5316				CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"""Homeoboxes / TALE class"""	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.1012C>T	21.37:g.44448897C>T	ENSP00000291547:p.Gln338*		O00528|Q8IWT7	Nonsense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.Q338*	ENST00000291547.5	37	c.1012	CCDS13692.1	21	.	.	.	.	.	.	.	.	.	.	C	33	5.259895	0.95368	.	.	ENSG00000160199	ENST00000291547;ENST00000432907	.	.	.	5.39	5.39	0.77823	.	0.171230	0.53938	D	0.000057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-32.1223	19.5223	0.95190	0.0:1.0:0.0:0.0	.	.	.	.	X	338;221	.	ENSP00000291547:Q338X	Q	+	1	0	PKNOX1	43321966	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	6.992000	0.76238	2.691000	0.91804	0.655000	0.94253	CAG	PKNOX1	-	NULL		0.502	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKNOX1	HGNC	protein_coding	OTTHUMT00000195520.3	C			44448897	+1	no_errors	ENST00000291547	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TINCR	257000	genome.wustl.edu	37	19	5561140	5561140	+	lincRNA	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:5561140C>G	ENST00000448587.1	-	0	770					NR_027064.1				tissue differentiation-inducing non-protein coding RNA																		TGCTTCTCTTCTTGCGATGCC	0.607																																																	0													57.0	58.0	58.0					19																	5561140		692	1591	2283			257000			BG354568		19p13.3	2013-09-11	2012-12-05	2012-12-05	ENSG00000223573	ENSG00000223573		"""Long non-coding RNAs"", ""-"""	14607	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 36"", ""long intergenic non-protein coding RNA 36"", ""terminal differentiation-induced ncRNA"""	615241	"""placenta-specific 2"", ""placenta-specific 2 (non-protein coding)"""	PLAC2		23201690, 24019000	Standard	NR_027064		Approved	FLJ90734, NCRNA00036, LINC00036	uc002mcc.5		OTTHUMG00000150390		19.37:g.5561140C>G				RNA	SNP	-	NULL	ENST00000448587.1	37	NULL		19																																																																																			PLAC2	-	-		0.607	TINCR-001	KNOWN	basic	lincRNA	PLAC2	HGNC	lincRNA	OTTHUMT00000317918.1	C	NR_027064		5561140	-1	no_errors	ENST00000448587	ensembl	human	known	70_37	rna	SNP	0.002	G
PLCH1	23007	genome.wustl.edu	37	3	155203488	155203488	+	Silent	SNP	G	G	A	rs143064400		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:155203488G>A	ENST00000340059.7	-	22	2654	c.2655C>T	c.(2653-2655)ctC>ctT	p.L885L	PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000460012.1_Silent_p.L847L|PLCH1_ENST00000334686.6_Silent_p.L847L|PLCH1_ENST00000414191.1_Silent_p.L847L|PLCH1_ENST00000494598.1_Silent_p.L865L|PLCH1_ENST00000447496.2_Silent_p.L885L	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	885					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCAGACCCTGGAGTTGTCTGT	0.408																																																	0													44.0	44.0	44.0					3																	155203488		2203	4300	6503	SO:0001819	synonymous_variant	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2655C>T	3.37:g.155203488G>A			Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.L885	ENST00000340059.7	37	c.2655	CCDS46939.1	3																																																																																			PLCH1	-	NULL		0.408	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	G	NM_014996		155203488	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	silent	SNP	0.994	A
PLCH1	23007	genome.wustl.edu	37	3	155271939	155271939	+	Silent	SNP	A	A	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:155271939A>T	ENST00000340059.7	-	8	1079	c.1080T>A	c.(1078-1080)ggT>ggA	p.G360G	PLCH1_ENST00000460012.1_Silent_p.G342G|PLCH1_ENST00000334686.6_Silent_p.G342G|PLCH1_ENST00000414191.1_Silent_p.G342G|PLCH1_ENST00000494598.1_Silent_p.G360G|PLCH1_ENST00000447496.2_Silent_p.G360G	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	360	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGAGAGTGTAACCATGATGTA	0.413																																																	0													145.0	132.0	137.0					3																	155271939		2203	4300	6503	SO:0001819	synonymous_variant	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1080T>A	3.37:g.155271939A>T			Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.G360	ENST00000340059.7	37	c.1080	CCDS46939.1	3																																																																																			PLCH1	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom		0.413	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	A	NM_014996		155271939	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	silent	SNP	0.946	T
PLEKHB2	55041	genome.wustl.edu	37	2	131890507	131890507	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:131890507G>A	ENST00000403716.1	+	6	926	c.366G>A	c.(364-366)gaG>gaA	p.E122E	PLEKHB2_ENST00000234115.6_Silent_p.E122E|PLEKHB2_ENST00000409158.1_Silent_p.E122E|PLEKHB2_ENST00000303908.3_Silent_p.E122E|PLEKHB2_ENST00000538982.1_Silent_p.E74E|PLEKHB2_ENST00000409612.1_Silent_p.E122E|PLEKHB2_ENST00000438882.2_Silent_p.E122E|PLEKHB2_ENST00000439822.2_Intron|PLEKHB2_ENST00000409279.1_Silent_p.E122E|PLEKHB2_ENST00000404460.1_Silent_p.E122E	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	122						endosome (GO:0005768)|membrane (GO:0016020)				large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		TGACCGATGAGACATCCGTGG	0.602																																																	0													141.0	121.0	128.0					2																	131890507		2203	4300	6503	SO:0001819	synonymous_variant	55041				CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1	2q22.1	2013-01-10			ENSG00000115762	ENSG00000115762		"""Pleckstrin homology (PH) domain containing"""	19236	protein-coding gene	gene with protein product						10200314	Standard	NM_017958		Approved	EVT2, FLJ20783	uc031rpd.1	Q96CS7	OTTHUMG00000131656	ENST00000403716.1:c.366G>A	2.37:g.131890507G>A			B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E122	ENST00000403716.1	37	c.366	CCDS46413.1	2																																																																																			PLEKHB2	-	NULL		0.602	PLEKHB2-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLEKHB2	HGNC	protein_coding	OTTHUMT00000331304.2	G	NM_017958		131890507	+1	no_errors	ENST00000303908	ensembl	human	known	70_37	silent	SNP	0.944	A
PLEKHH1	57475	genome.wustl.edu	37	14	68029086	68029086	+	Silent	SNP	T	T	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:68029086T>G	ENST00000329153.5	+	7	870	c.738T>G	c.(736-738)tcT>tcG	p.S246S		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	246						cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CGGTCCATTCTGGGGAAACAG	0.552																																																	0													67.0	79.0	75.0					14																	68029086		1916	4141	6057	SO:0001819	synonymous_variant	57475			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.738T>G	14.37:g.68029086T>G			A6H8X6|Q6PJL4|Q6ZWC7	Silent	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.S246	ENST00000329153.5	37	c.738	CCDS45128.1	14																																																																																			PLEKHH1	-	NULL		0.552	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH1	HGNC	protein_coding	OTTHUMT00000412730.3	T	XM_031054		68029086	+1	no_errors	ENST00000329153	ensembl	human	known	70_37	silent	SNP	0.001	G
PLP1	5354	genome.wustl.edu	37	X	103041593	103041593	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:103041593C>G	ENST00000303958.2	+	3	537	c.391C>G	c.(391-393)Caa>Gaa	p.Q131E	PLP1_ENST00000361621.2_Intron|PLP1_ENST00000418604.1_Missense_Mutation_p.Q131E	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	131			Missing (in HLD1).		astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AGGCCAACATCAAGCTCATTC	0.542																																																	0													146.0	124.0	132.0					X																	103041593		2203	4300	6503	SO:0001583	missense	5354			M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.391C>G	X.37:g.103041593C>G	ENSP00000305152:p.Gln131Glu		P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP	p.Q131E	ENST00000303958.2	37	c.391	CCDS14513.1	X	.	.	.	.	.	.	.	.	.	.	C	9.545	1.114488	0.20795	.	.	ENSG00000123560	ENST00000429977;ENST00000455268;ENST00000418604;ENST00000303958;ENST00000428755	D;D;D;D	0.99239	-5.06;-4.97;-5.61;-5.61	5.78	5.78	0.91487	.	0.167911	0.40385	N	0.001116	D	0.96682	0.8917	N	0.22421	0.69	0.28715	N	0.903353	B;B;B;B	0.11235	0.004;0.0;0.0;0.0	B;B;B;B	0.09377	0.004;0.004;0.001;0.004	D	0.87167	0.2218	10	0.06365	T	0.9	-8.412	16.1536	0.81640	0.0:1.0:0.0:0.0	.	76;131;131;131	B4DI30;A8K9L3;B1B1G6;P60201	.;.;.;MYPR_HUMAN	E	131;131;131;131;109	ENSP00000399913:Q131E;ENSP00000409802:Q131E;ENSP00000405750:Q131E;ENSP00000305152:Q131E	ENSP00000305152:Q131E	Q	+	1	0	PLP1	102928249	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.930000	0.56522	2.417000	0.82017	0.600000	0.82982	CAA	PLP1	-	pfam_Myelin_PLP,prints_Myelin_PLP		0.542	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLP1	HGNC	protein_coding	OTTHUMT00000057743.2	C			103041593	+1	no_errors	ENST00000303958	ensembl	human	known	70_37	missense	SNP	1.000	G
PMFBP1	83449	genome.wustl.edu	37	16	72166674	72166674	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:72166674C>T	ENST00000237353.10	-	10	1681	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	PMFBP1_ENST00000355636.6_Missense_Mutation_p.E329K|PMFBP1_ENST00000537465.1_Missense_Mutation_p.E474K	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	474						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TGCTTGGCCTCTTCGAGACTG	0.587																																																	0													113.0	97.0	102.0					16																	72166674		2198	4300	6498	SO:0001583	missense	83449			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.1420G>A	16.37:g.72166674C>T	ENSP00000237353:p.Glu474Lys		B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	NULL	p.E474K	ENST00000237353.10	37	c.1420	CCDS32483.1	16	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953554	0.92660	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.19669	2.13;2.18;2.16	5.48	5.48	0.80851	.	0.771170	0.11421	N	0.565816	T	0.26159	0.0638	L	0.29908	0.895	0.25716	N	0.985423	P;P;P	0.44139	0.827;0.827;0.827	P;P;P	0.46758	0.526;0.526;0.526	T	0.17471	-1.0368	10	0.66056	D	0.02	-5.2027	16.278	0.82656	0.0:1.0:0.0:0.0	.	474;474;474	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	K	474;474;329	ENSP00000443817:E474K;ENSP00000237353:E474K;ENSP00000347854:E329K	ENSP00000237353:E474K	E	-	1	0	PMFBP1	70724175	0.504000	0.26123	0.582000	0.28627	0.401000	0.30781	2.309000	0.43699	2.564000	0.86499	0.561000	0.74099	GAG	PMFBP1	-	NULL		0.587	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PMFBP1	HGNC	protein_coding	OTTHUMT00000396473.2	C	NM_031293		72166674	-1	no_errors	ENST00000537465	ensembl	human	known	70_37	missense	SNP	0.396	T
POGZ	23126	genome.wustl.edu	37	1	151379713	151379713	+	Silent	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:151379713C>G	ENST00000271715.2	-	16	2744	c.2430G>C	c.(2428-2430)gtG>gtC	p.V810V	POGZ_ENST00000368863.2_Silent_p.V715V|POGZ_ENST00000409503.1_Silent_p.V801V|POGZ_ENST00000361398.3_Silent_p.V757V|POGZ_ENST00000491586.1_Silent_p.V766V|POGZ_ENST00000540984.1_Silent_p.V172V|POGZ_ENST00000531094.1_Silent_p.V748V|POGZ_ENST00000392723.1_Silent_p.V757V	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	810	Required for interaction with CBX5.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTTCTTACCTCACAGAATTTT	0.348																																																	0													62.0	64.0	63.0					1																	151379713		2203	4300	6503	SO:0001819	synonymous_variant	23126			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.2430G>C	1.37:g.151379713C>G			B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Silent	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2	p.V810	ENST00000271715.2	37	c.2430	CCDS997.1	1																																																																																			POGZ	-	NULL		0.348	POGZ-001	KNOWN	basic|CCDS	protein_coding	POGZ	HGNC	protein_coding	OTTHUMT00000034915.2	C	NM_207171		151379713	-1	no_errors	ENST00000271715	ensembl	human	known	70_37	silent	SNP	1.000	G
POLA2	23649	genome.wustl.edu	37	11	65062110	65062110	+	Missense_Mutation	SNP	G	G	A	rs200610658		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:65062110G>A	ENST00000265465.3	+	15	1978	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	POLA2_ENST00000534785.1_3'UTR|POLA2_ENST00000541089.1_Missense_Mutation_p.E275K	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	483					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CCTGGGGGCCGAGGAGATCAG	0.527																																																	0													84.0	81.0	82.0					11																	65062110		2201	4297	6498	SO:0001583	missense	23649			BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.1447G>A	11.37:g.65062110G>A	ENSP00000265465:p.Glu483Lys		B4DNB4|Q9BPV3	Missense_Mutation	SNP	pfam_Pol_alpha_B_N,pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu	p.E483K	ENST00000265465.3	37	c.1447	CCDS8098.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.534112	0.96460	.	.	ENSG00000014138	ENST00000265465;ENST00000541089	T;T	0.31769	1.48;1.48	5.58	5.58	0.84498	DNA polymerase alpha/epsilon, subunit B (1);	0.000000	0.85682	D	0.000000	T	0.61337	0.2339	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	T	0.65508	-0.6151	10	0.59425	D	0.04	-27.3157	17.0613	0.86548	0.0:0.0:1.0:0.0	.	275;483	B4DNB4;Q14181	.;DPOA2_HUMAN	K	483;275	ENSP00000265465:E483K;ENSP00000443222:E275K	ENSP00000265465:E483K	E	+	1	0	POLA2	64818686	1.000000	0.71417	0.999000	0.59377	0.853000	0.48598	8.711000	0.91396	2.640000	0.89533	0.561000	0.74099	GAG	POLA2	-	pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu		0.527	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLA2	HGNC	protein_coding	OTTHUMT00000387223.1	G	NM_002689		65062110	+1	no_errors	ENST00000265465	ensembl	human	known	70_37	missense	SNP	1.000	A
POLL	27343	genome.wustl.edu	37	10	103339545	103339545	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:103339545C>G	ENST00000370162.3	-	9	1887	c.1393G>C	c.(1393-1395)Gag>Cag	p.E465Q	POLL_ENST00000370158.3_Missense_Mutation_p.E190Q|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370169.1_Missense_Mutation_p.E465Q|POLL_ENST00000456836.2_Missense_Mutation_p.E202Q|POLL_ENST00000339310.3_Missense_Mutation_p.E188Q|POLL_ENST00000370168.3_Missense_Mutation_p.E138Q|POLL_ENST00000370172.1_Missense_Mutation_p.E377Q|POLL_ENST00000299206.4_Missense_Mutation_p.E465Q|DPCD_ENST00000416979.2_Intron|POLL_ENST00000463515.1_5'UTR	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	465					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CCATTCTCCTCTTGGCTCACC	0.642								DNA polymerases (catalytic subunits)																																									0													49.0	46.0	47.0					10																	103339545		2203	4300	6503	SO:0001583	missense	27343			AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.1393G>C	10.37:g.103339545C>G	ENSP00000359181:p.Glu465Gln		D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Missense_Mutation	SNP	pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pfscan_BRCT_dom,prints_DNA_pol_X_beta-like,prints_DNA_pol_X	p.E465Q	ENST00000370162.3	37	c.1393	CCDS7513.1	10	.	.	.	.	.	.	.	.	.	.	C	15.22	2.770122	0.49680	.	.	ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000339310;ENST00000370172;ENST00000370168;ENST00000370162;ENST00000370158;ENST00000370157;ENST00000456836;ENST00000415897;ENST00000429502	T;T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.25	4.28	0.50868	DNA-directed DNA polymerase X (1);	0.056421	0.64402	D	0.000001	T	0.43523	0.1251	L	0.53561	1.675	0.80722	D	1	P;P;P;D;B;P	0.56287	0.477;0.948;0.909;0.975;0.239;0.834	B;B;B;P;B;B	0.45610	0.068;0.332;0.252;0.487;0.022;0.156	T	0.47497	-0.9113	10	0.54805	T	0.06	-26.837	14.2508	0.66019	0.1498:0.8502:0.0:0.0	.	188;202;190;465;373;138	Q5JQP4;B4DEF5;Q9BTN8;Q9UGP5;A8K860;Q9HBN3	.;.;.;DPOLL_HUMAN;.;.	Q	465;465;465;188;377;138;465;190;465;202;380;188	ENSP00000299206:E465Q;ENSP00000359188:E465Q;ENSP00000343102:E188Q;ENSP00000359191:E377Q;ENSP00000359187:E138Q;ENSP00000359181:E465Q;ENSP00000359177:E190Q;ENSP00000390810:E202Q;ENSP00000400676:E380Q;ENSP00000406791:E188Q	ENSP00000299206:E465Q	E	-	1	0	POLL	103329535	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	5.622000	0.67750	2.437000	0.82529	0.462000	0.41574	GAG	POLL	-	smart_DNA-dir_DNA_pol_X		0.642	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	POLL	HGNC	protein_coding	OTTHUMT00000049946.1	C	NM_013274		103339545	-1	no_errors	ENST00000299206	ensembl	human	known	70_37	missense	SNP	1.000	G
POLM	27434	genome.wustl.edu	37	7	44120006	44120006	+	Intron	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:44120006C>G	ENST00000242248.5	-	2	474				POLM_ENST00000395831.3_Intron|POLM_ENST00000335195.6_Intron	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu						DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						AGGACAGGCTCCTGCTAACCC	0.557								DNA polymerases (catalytic subunits)																																									0																																										SO:0001627	intron_variant	27434			AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"""DNA polymerases"""	9185	protein-coding gene	gene with protein product	"""Pol iota"""	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.372+325G>C	7.37:g.44120006C>G			D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	superfamily_BRCT_dom,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase	p.G146A	ENST00000242248.5	37	c.437	CCDS34625.1	7																																																																																			POLM	-	NULL		0.557	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLM	HGNC	protein_coding	OTTHUMT00000339594.1	C	NM_013284		44120006	-1	no_errors	ENST00000445616	ensembl	human	known	70_37	missense	SNP	0.001	G
POLQ	10721	genome.wustl.edu	37	3	121158950	121158950	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:121158950G>C	ENST00000264233.5	-	27	7406	c.7278C>G	c.(7276-7278)ttC>ttG	p.F2426L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2426					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCTCTGTCATGAATTGATTAA	0.348								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													82.0	80.0	81.0					3																	121158950		2201	4299	6500	SO:0001583	missense	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.7278C>G	3.37:g.121158950G>C	ENSP00000264233:p.Phe2426Leu		O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.F2426L	ENST00000264233.5	37	c.7278	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611145	0.66558	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	D	0.96041	-3.89	4.85	3.98	0.46160	DNA-directed DNA polymerase, family A, palm domain (2);	0.104259	0.64402	D	0.000002	D	0.97222	0.9092	M	0.78223	2.4	0.33298	D	0.564372	D;D	0.89917	0.999;1.0	D;D	0.79108	0.992;0.991	D	0.99883	1.1117	10	0.72032	D	0.01	.	12.8359	0.57773	0.0798:0.0:0.9202:0.0	.	2426;1598	O75417;O75417-2	DPOLQ_HUMAN;.	L	2049;2426;2562	ENSP00000264233:F2426L	ENSP00000264233:F2426L	F	-	3	2	POLQ	122641640	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	2.807000	0.47955	1.281000	0.44480	-0.251000	0.11542	TTC	POLQ	-	pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom		0.348	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	G	NM_199420		121158950	-1	no_errors	ENST00000264233	ensembl	human	known	70_37	missense	SNP	1.000	C
POLR2E	5434	genome.wustl.edu	37	19	1090928	1090928	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:1090928G>A	ENST00000215587.7	-	4	691	c.408C>T	c.(406-408)ctC>ctT	p.L136L	POLR2E_ENST00000585838.1_5'UTR|POLR2E_ENST00000586746.1_Silent_p.L136L			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	136					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATGTTGATGAGCAGCTCCT	0.657																																																	0													63.0	59.0	60.0					19																	1090928		2203	4300	6503	SO:0001819	synonymous_variant	5434				CCDS12056.1	19p13.3	2013-01-21	2002-08-29			ENSG00000099817		"""RNA polymerase subunits"""	9192	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 23 kda polypeptide"""	180664	"""polymerase (RNA) II (DNA directed) polypeptide E (25kD)"""			8034326	Standard	NM_002695		Approved	RPB5, RPABC1, XAP4, hRPB25, hsRPB5	uc002lre.4	P19388		ENST00000215587.7:c.408C>T	19.37:g.1090928G>A			B2R6L4|D6W5Y1|O43380|Q6PIH5|Q9BT06	Silent	SNP	pfam_RNA_pol_subH/Rpb5_C,pfam_RNA_pol_Rpb5_N,superfamily_RNA_pol_Rpb5_N,superfamily_RNA_pol_subH/Rpb5_C,pirsf_DNA-dir_RNA_pol_RPB5_su	p.L136	ENST00000215587.7	37	c.408	CCDS12056.1	19																																																																																			POLR2E	-	superfamily_RNA_pol_Rpb5_N,pirsf_DNA-dir_RNA_pol_RPB5_su		0.657	POLR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2E	HGNC	protein_coding	OTTHUMT00000458044.1	G	NM_002695		1090928	-1	no_errors	ENST00000215587	ensembl	human	known	70_37	silent	SNP	1.000	A
PPFIA1	8500	genome.wustl.edu	37	11	70222679	70222679	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:70222679C>T	ENST00000253925.7	+	25	3572	c.3357C>T	c.(3355-3357)gtC>gtT	p.V1119V	PPFIA1_ENST00000389547.3_Silent_p.V1119V|AP000487.5_ENST00000500185.2_RNA|PPFIA1_ENST00000530548.1_3'UTR|AP000487.5_ENST00000530690.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1119	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			ACCTTTTGGTCATGGGGACTG	0.328																																																	0													185.0	181.0	183.0					11																	70222679		2200	4294	6494	SO:0001819	synonymous_variant	8500			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.3357C>T	11.37:g.70222679C>T			A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.V1119	ENST00000253925.7	37	c.3357	CCDS31627.1	11																																																																																			PPFIA1	-	superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.328	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA1	HGNC	protein_coding	OTTHUMT00000393905.1	C	NM_003626		70222679	+1	no_errors	ENST00000253925	ensembl	human	known	70_37	silent	SNP	0.994	T
PPIP5K2	23262	genome.wustl.edu	37	5	102490381	102490381	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:102490381G>C	ENST00000358359.3	+	12	1734	c.1225G>C	c.(1225-1227)Gat>Cat	p.D409H	PPIP5K2_ENST00000321521.9_Missense_Mutation_p.D409H|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.D409H	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	409	Polyphosphoinositide-binding domain.				inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAGATTTTTTGATCTTTTTGA	0.254																																																	0													64.0	66.0	65.0					5																	102490381		2188	4282	6470	SO:0001583	missense	23262			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.1225G>C	5.37:g.102490381G>C	ENSP00000351126:p.Asp409His		A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.D409H	ENST00000358359.3	37	c.1225		5	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121885	0.77436	.	.	ENSG00000145725	ENST00000321521;ENST00000507921;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.87	4.87	0.63330	.	0.153018	0.44483	D	0.000446	T	0.39462	0.1079	L	0.55990	1.75	0.80722	D	1	B;B;B	0.32051	0.029;0.354;0.221	B;B;B	0.39771	0.128;0.132;0.309	T	0.38845	-0.9642	10	0.66056	D	0.02	.	18.3578	0.90364	0.0:0.0:1.0:0.0	.	331;409;409	D6RBU4;O43314-2;O43314	.;.;VIP2_HUMAN	H	409;331;409;409;409	ENSP00000313070:D409H;ENSP00000422525:D331H;ENSP00000351126:D409H;ENSP00000416016:D409H	ENSP00000313070:D409H	D	+	1	0	PPIP5K2	102518280	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.416000	0.97383	2.378000	0.81104	0.655000	0.94253	GAT	PPIP5K2	-	pfam_His_Pase_superF_clade-2		0.254	PPIP5K2-003	KNOWN	basic	protein_coding	PPIP5K2	HGNC	protein_coding	OTTHUMT00000370487.1	G	NM_015216		102490381	+1	no_errors	ENST00000358359	ensembl	human	known	70_37	missense	SNP	1.000	C
PPL	5493	genome.wustl.edu	37	16	4987026	4987026	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:4987026C>G	ENST00000345988.2	-	1	110	c.21G>C	c.(19-21)aaG>aaC	p.K7N	PPL_ENST00000590782.2_Missense_Mutation_p.K7N	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	7					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTTTGTTTCTCTTCCTGAAGA	0.716																																																	0													57.0	51.0	53.0					16																	4987026		2196	4300	6496	SO:0001583	missense	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.21G>C	16.37:g.4987026C>G	ENSP00000340510:p.Lys7Asn		O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.K7N	ENST00000345988.2	37	c.21	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954811	0.73902	.	.	ENSG00000118898	ENST00000345988	T	0.68765	-0.35	3.14	3.14	0.36123	.	0.615614	0.14352	U	0.325026	T	0.73202	0.3557	L	0.48642	1.525	0.35431	D	0.794093	D	0.71674	0.998	D	0.73708	0.981	T	0.75425	-0.3322	10	0.38643	T	0.18	.	9.9707	0.41752	0.0:1.0:0.0:0.0	.	7	O60437	PEPL_HUMAN	N	7	ENSP00000340510:K7N	ENSP00000340510:K7N	K	-	3	2	PPL	4927027	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.152000	0.31663	1.782000	0.52362	0.449000	0.29647	AAG	PPL	-	NULL		0.716	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	C	NM_002705		4987026	-1	no_errors	ENST00000345988	ensembl	human	known	70_37	missense	SNP	1.000	G
PPP5C	5536	genome.wustl.edu	37	19	46891689	46891689	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:46891689C>G	ENST00000012443.4	+	10	1263	c.1160C>G	c.(1159-1161)tCa>tGa	p.S387*	AC007193.8_ENST00000598616.1_RNA|PPP5C_ENST00000391919.1_Nonsense_Mutation_p.S259*	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	387	Catalytic.				cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		CTGCTCTGGTCAGATCCACAG	0.662																																																	0													51.0	48.0	49.0					19																	46891689		2203	4300	6503	SO:0001587	stop_gained	5536				CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.1160C>G	19.37:g.46891689C>G	ENSP00000012443:p.Ser387*		Q16722|Q53XV2	Nonsense_Mutation	SNP	pfam_Metallo_PEstase_dom,pfam_PPP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase	p.S387*	ENST00000012443.4	37	c.1160	CCDS12684.1	19	.	.	.	.	.	.	.	.	.	.	C	39	7.402550	0.98262	.	.	ENSG00000011485	ENST00000012443;ENST00000451918;ENST00000391919	.	.	.	4.8	3.76	0.43208	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-5.285	10.0362	0.42131	0.0:0.9005:0.0:0.0995	.	.	.	.	X	387;374;259	.	ENSP00000012443:S387X	S	+	2	0	PPP5C	51583529	1.000000	0.71417	0.946000	0.38457	0.864000	0.49448	7.106000	0.77039	2.211000	0.71520	0.491000	0.48974	TCA	PPP5C	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,prints_Ser/Thr-sp_prot-phosphatase		0.662	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP5C	HGNC	protein_coding	OTTHUMT00000258969.2	C	NM_006247		46891689	+1	no_errors	ENST00000012443	ensembl	human	known	70_37	nonsense	SNP	0.996	G
PREX1	57580	genome.wustl.edu	37	20	47305245	47305245	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr20:47305245G>C	ENST00000371941.3	-	10	1306	c.1284C>G	c.(1282-1284)atC>atG	p.I428M	PREX1_ENST00000396220.1_Missense_Mutation_p.I428M	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	428	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGCGGTCCTTGATGAGGTTCA	0.557																																																	0													184.0	129.0	148.0					20																	47305245		2203	4300	6503	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1284C>G	20.37:g.47305245G>C	ENSP00000361009:p.Ile428Met		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.I428M	ENST00000371941.3	37	c.1284	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275619	0.59649	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.20200	2.09;2.09	5.29	4.34	0.51931	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.56097	U	0.000035	T	0.46425	0.1392	M	0.76574	2.34	0.50813	D	0.999894	D	0.89917	1.0	D	0.97110	1.0	T	0.50541	-0.8816	10	0.87932	D	0	.	13.8939	0.63757	0.0735:0.0:0.9265:0.0	.	428	Q8TCU6	PREX1_HUMAN	M	428	ENSP00000361009:I428M;ENSP00000379522:I428M	ENSP00000361009:I428M	I	-	3	3	PREX1	46738652	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.580000	0.46068	1.222000	0.43521	0.563000	0.77884	ATC	PREX1	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom		0.557	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	G	NM_020820		47305245	-1	no_errors	ENST00000371941	ensembl	human	known	70_37	missense	SNP	1.000	C
PROB1	389333	genome.wustl.edu	37	5	138729801	138729801	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:138729801G>A	ENST00000434752.2	-	1	1084	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W		NM_001161546.1	NP_001155018.1	E7EW31	PROB1_HUMAN	proline-rich basic protein 1	324																	TTGTCGCGCCGAATCGCGCGC	0.662																																																	0													11.0	18.0	16.0					5																	138729801		686	1586	2272	SO:0001583	missense	389333			AK316483	CCDS54909.1	5q31.2	2012-10-01	2012-10-01	2012-10-01	ENSG00000228672	ENSG00000228672			41906	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 65"""	C5orf65			Standard	NM_001161546		Approved		uc011czc.1	E7EW31		ENST00000434752.2:c.970C>T	5.37:g.138729801G>A	ENSP00000416033:p.Arg324Trp		B4E007	Missense_Mutation	SNP	NULL	p.R324W	ENST00000434752.2	37	c.970	CCDS54909.1	5	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757250	0.89843	.	.	ENSG00000228672	ENST00000434752	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	T	0.67154	0.2863	L	0.36672	1.1	0.40885	D	0.984025	D	0.89917	1.0	D	0.87578	0.998	T	0.70970	-0.4727	8	0.66056	D	0.02	.	14.8837	0.70553	0.0:0.0:1.0:0.0	.	324	E7EW31	CE065_HUMAN	W	324	.	ENSP00000416033:R324W	R	-	1	2	AC135457.1	138757700	0.981000	0.34729	1.000000	0.80357	0.933000	0.57130	5.610000	0.67668	2.367000	0.80283	0.561000	0.74099	CGG	PROB1	-	NULL		0.662	PROB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROB1	HGNC	protein_coding	OTTHUMT00000470735.1	G	NM_001161546		138729801	-1	no_errors	ENST00000434752	ensembl	human	known	70_37	missense	SNP	1.000	A
PRR14L	253143	genome.wustl.edu	37	22	32112817	32112817	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr22:32112817C>G	ENST00000327423.6	-	4	1197	c.1008G>C	c.(1006-1008)ttG>ttC	p.L336F	PRR14L_ENST00000434485.1_Missense_Mutation_p.L336F|PRR14L_ENST00000397493.2_Missense_Mutation_p.L336F|PRR14L_ENST00000461722.1_5'UTR	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	336										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						AATTTTCTTTCAAAGGGCTTG	0.433																																																	0													343.0	291.0	307.0					22																	32112817		692	1591	2283	SO:0001583	missense	253143			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.1008G>C	22.37:g.32112817C>G	ENSP00000331845:p.Leu336Phe		Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	NULL	p.L336F	ENST00000327423.6	37	c.1008	CCDS13900.2	22	.	.	.	.	.	.	.	.	.	.	C	8.428	0.848001	0.17034	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.09817	2.94;2.96;2.94	4.03	0.715	0.18186	.	0.356860	0.20229	N	0.096525	T	0.19366	0.0465	L	0.54323	1.7	0.09310	N	1	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.68192	0.956;0.931;0.931	T	0.05241	-1.0897	10	0.45353	T	0.12	1.6407	4.2534	0.10705	0.0:0.3215:0.4181:0.2603	.	336;336;336	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	F	336	ENSP00000380630:L336F;ENSP00000331845:L336F;ENSP00000388314:L336F	ENSP00000331845:L336F	L	-	3	2	PRR14L	30442817	0.000000	0.05858	0.033000	0.17914	0.264000	0.26372	-0.368000	0.07543	0.199000	0.20427	0.650000	0.86243	TTG	PRR14L	-	NULL		0.433	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2	C	NM_173566		32112817	-1	no_errors	ENST00000397493	ensembl	human	known	70_37	missense	SNP	0.002	G
PRR14L	253143	genome.wustl.edu	37	22	32113264	32113264	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr22:32113264C>G	ENST00000327423.6	-	4	750	c.561G>C	c.(559-561)caG>caC	p.Q187H	PRR14L_ENST00000434485.1_Missense_Mutation_p.Q187H|PRR14L_ENST00000397493.2_Missense_Mutation_p.Q187H|PRR14L_ENST00000461722.1_5'UTR	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	187										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						CAGCTGTAATCTGTACATTTC	0.348																																																	0													175.0	128.0	142.0					22																	32113264		692	1591	2283	SO:0001583	missense	253143			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.561G>C	22.37:g.32113264C>G	ENSP00000331845:p.Gln187His		Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	NULL	p.Q187H	ENST00000327423.6	37	c.561	CCDS13900.2	22	.	.	.	.	.	.	.	.	.	.	C	8.065	0.768872	0.15983	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.08102	3.13;3.15;3.14	5.21	0.44	0.16572	.	0.284900	0.24978	N	0.034084	T	0.07863	0.0197	L	0.42245	1.32	0.28762	N	0.900872	B	0.27140	0.169	B	0.32583	0.148	T	0.17198	-1.0377	10	0.87932	D	0	-1.0E-4	5.8099	0.18460	0.0:0.6033:0.1663:0.2304	.	187	Q5THK1	PR14L_HUMAN	H	187	ENSP00000380630:Q187H;ENSP00000331845:Q187H;ENSP00000388314:Q187H	ENSP00000331845:Q187H	Q	-	3	2	PRR14L	30443264	0.998000	0.40836	0.292000	0.24919	0.098000	0.18820	0.799000	0.27028	-0.143000	0.11334	-0.355000	0.07637	CAG	PRR14L	-	NULL		0.348	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2	C	NM_173566		32113264	-1	no_errors	ENST00000397493	ensembl	human	known	70_37	missense	SNP	0.996	G
PRSS16	10279	genome.wustl.edu	37	6	27218887	27218887	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:27218887G>A	ENST00000230582.3	+	6	673	c.658G>A	c.(658-660)Gag>Aag	p.E220K	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	220					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGATTTCTCCGAGTATAATGA	0.657																																					NSCLC(178;1118 2105 17078 23587 44429)												0													61.0	71.0	68.0					6																	27218887		2203	4299	6502	SO:0001583	missense	10279			AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.658G>A	6.37:g.27218887G>A	ENSP00000230582:p.Glu220Lys		O75416	Missense_Mutation	SNP	pfam_Peptidase_S28	p.E220K	ENST00000230582.3	37	c.658	CCDS4623.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.77|16.77	3.214774|3.214774	0.58452|0.58452	.|.	.|.	ENSG00000112812|ENSG00000112812	ENST00000230582;ENST00000343467|ENST00000475106	T|.	0.18960|.	2.18|.	4.46|4.46	3.57|3.57	0.40892|0.40892	.|.	0.587759|.	0.17955|.	N|.	0.156371|.	T|T	0.42223|0.42223	0.1193|0.1193	M|M	0.73962|0.73962	2.25|2.25	0.28099|0.28099	N|N	0.931491|0.931491	B;B|.	0.27416|.	0.178;0.024|.	B;B|.	0.23275|.	0.045;0.011|.	T|T	0.30937|0.30937	-0.9961|-0.9961	10|5	0.22706|.	T|.	0.39|.	-9.5459|-9.5459	10.9602|10.9602	0.47381|0.47381	0.0:0.1908:0.8091:0.0|0.0:0.1908:0.8091:0.0	.|.	220;220|.	C9JI59;Q9NQE7|.	.;TSSP_HUMAN|.	K|Q	220|111	ENSP00000230582:E220K|.	ENSP00000230582:E220K|.	E|R	+|+	1|2	0|0	PRSS16|PRSS16	27326866|27326866	0.100000|0.100000	0.21855|0.21855	0.544000|0.544000	0.28141|0.28141	0.916000|0.916000	0.54674|0.54674	1.910000|1.910000	0.39927|0.39927	1.162000|1.162000	0.42619|0.42619	0.514000|0.514000	0.50259|0.50259	GAG|CGA	PRSS16	-	pfam_Peptidase_S28		0.657	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS16	HGNC	protein_coding	OTTHUMT00000043418.2	G			27218887	+1	no_errors	ENST00000230582	ensembl	human	known	70_37	missense	SNP	0.729	A
PSG6	5675	genome.wustl.edu	37	19	43411200	43411200	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:43411200G>A	ENST00000292125.2	-	5	1158	c.1114C>T	c.(1114-1116)Cag>Tag	p.Q372*	PSG6_ENST00000402603.4_Nonsense_Mutation_p.Q279*|PSG6_ENST00000187910.2_Nonsense_Mutation_p.Q372*	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	372	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CCTGATAGCTGAAACTTCCCA	0.453																																																	0													192.0	206.0	201.0					19																	43411200		2201	4299	6500	SO:0001587	stop_gained	5675				CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.1114C>T	19.37:g.43411200G>A	ENSP00000292125:p.Gln372*		O75244|Q15224|Q15235|Q549K1	Nonsense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q372*	ENST00000292125.2	37	c.1114	CCDS12613.1	19	.	.	.	.	.	.	.	.	.	.	-	13.89	2.371018	0.42003	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125	.	.	.	1.54	0.338	0.15974	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	4.1108	0.10058	0.2477:0.0:0.7523:0.0	.	.	.	.	X	372;279;372	.	ENSP00000187910:Q372X	Q	-	1	0	PSG6	48103040	0.000000	0.05858	0.001000	0.08648	0.062000	0.15995	-0.004000	0.12878	0.004000	0.14682	0.134000	0.15878	CAG	PSG6	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.453	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSG6	HGNC	protein_coding	OTTHUMT00000321436.1	G	NM_002782		43411200	-1	no_errors	ENST00000292125	ensembl	human	known	70_37	nonsense	SNP	0.001	A
PSMC5	5705	genome.wustl.edu	37	17	61905260	61905260	+	Intron	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:61905260C>T	ENST00000310144.6	+	2	332				PSMC5_ENST00000582420.1_3'UTR|PSMC5_ENST00000375812.4_5'UTR|PSMC5_ENST00000581882.1_5'UTR|FTSJ3_ENST00000427159.2_5'Flank|FTSJ3_ENST00000580295.1_Intron|PSMC5_ENST00000580864.1_5'UTR	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						tatcgcctctcggtcctccta	0.542											OREG0024641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	5705			L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.25-238C>T	17.37:g.61905260C>T		1057	A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	RNA	SNP	-	NULL	ENST00000310144.6	37	NULL	CCDS11645.1	17																																																																																			PSMC5	-	-		0.542	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC5	HGNC	protein_coding	OTTHUMT00000444404.1	C	NM_002805		61905260	+1	no_errors	ENST00000582420	ensembl	human	known	70_37	rna	SNP	0.000	T
PTPRD	5789	genome.wustl.edu	37	9	8484375	8484375	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:8484375G>A	ENST00000381196.4	-	27	3700	c.3157C>T	c.(3157-3159)Ctt>Ttt	p.L1053F	PTPRD_ENST00000356435.5_Missense_Mutation_p.L1053F|PTPRD_ENST00000397606.3_Missense_Mutation_p.L632F|PTPRD_ENST00000397611.3_Missense_Mutation_p.L639F|PTPRD_ENST00000537002.1_Missense_Mutation_p.L639F|PTPRD_ENST00000360074.4_Missense_Mutation_p.L1040F|PTPRD_ENST00000397617.3_Missense_Mutation_p.L632F|PTPRD_ENST00000358503.5_Missense_Mutation_p.L1031F|PTPRD_ENST00000486161.1_Missense_Mutation_p.L642F|PTPRD_ENST00000355233.5_Missense_Mutation_p.L642F|PTPRD_ENST00000471274.1_5'Flank|PTPRD_ENST00000540109.1_Missense_Mutation_p.L1053F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1053	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L1053I(2)|p.L1053V(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCATCATAAAGAATCTAAAGA	0.338										TSP Lung(15;0.13)																																							3	Substitution - Missense(3)	large_intestine(2)|NS(1)											47.0	47.0	47.0					9																	8484375		2203	4300	6503	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3157C>T	9.37:g.8484375G>A	ENSP00000370593:p.Leu1053Phe		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.L1053F	ENST00000381196.4	37	c.3157	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278230	0.59758	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.83	5.83	0.93111	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67505	0.2900	L	0.46157	1.445	0.80722	D	1	P;D;P;P;B;P;B;D;P	0.65815	0.828;0.995;0.887;0.824;0.149;0.892;0.419;0.991;0.679	B;D;B;B;B;P;B;P;P	0.70487	0.37;0.969;0.271;0.308;0.111;0.574;0.142;0.889;0.522	T	0.62172	-0.6910	9	.	.	.	.	19.7266	0.96166	0.0:0.0:1.0:0.0	.	632;637;642;642;639;639;1040;1053;1053	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	F	1053;1053;1040;1031;642;632;639;639;1053;642;632	ENSP00000370593:L1053F;ENSP00000348812:L1053F;ENSP00000353187:L1040F;ENSP00000351293:L1031F;ENSP00000347373:L642F;ENSP00000380741:L632F;ENSP00000380735:L639F;ENSP00000440515:L639F;ENSP00000438164:L1053F;ENSP00000417093:L642F;ENSP00000380731:L632F	.	L	-	1	0	PTPRD	8474375	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	9.439000	0.97543	2.757000	0.94681	0.563000	0.77884	CTT	PTPRD	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.338	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	G			8484375	-1	no_errors	ENST00000356435	ensembl	human	known	70_37	missense	SNP	1.000	A
PTPRT	11122	genome.wustl.edu	37	20	40944408	40944408	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr20:40944408C>T	ENST00000373187.1	-	12	2093	c.2094G>A	c.(2092-2094)ctG>ctA	p.L698L	PTPRT_ENST00000373184.1_Silent_p.L698L|PTPRT_ENST00000373201.1_Silent_p.L698L|PTPRT_ENST00000356100.2_Silent_p.L698L|PTPRT_ENST00000373193.3_Silent_p.L698L|PTPRT_ENST00000373198.4_Silent_p.L698L|PTPRT_ENST00000373190.1_Silent_p.L698L			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	698	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGTAGCTTTTCAGGGGAGAGA	0.493																																																	0													89.0	87.0	88.0					20																	40944408		1946	4144	6090	SO:0001819	synonymous_variant	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2094G>A	20.37:g.40944408C>T			A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.L698	ENST00000373187.1	37	c.2094	CCDS42874.1	20																																																																																			PTPRT	-	NULL		0.493	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	C			40944408	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	silent	SNP	0.863	T
RAB33B	83452	genome.wustl.edu	37	4	140375356	140375356	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:140375356G>A	ENST00000305626.5	+	1	396	c.7G>A	c.(7-9)Gag>Aag	p.E3K	RAB33B_ENST00000507271.1_3'UTR|RP11-83A24.2_ENST00000608661.1_RNA|RP11-83A24.2_ENST00000608663.1_RNA|RP11-83A24.2_ENST00000609359.1_RNA|RP11-83A24.2_ENST00000610159.1_RNA	NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	3					autophagy (GO:0006914)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of retrograde vesicle-mediated transport, Golgi to ER (GO:2000156)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					GGGAATGGCTGAGGAGATGGA	0.632																																																	0													29.0	31.0	30.0					4																	140375356		2203	4300	6503	SO:0001583	missense	83452			AF350420	CCDS3747.1	4q28	2008-02-05			ENSG00000172007	ENSG00000172007		"""RAB, member RAS oncogene"""	16075	protein-coding gene	gene with protein product		605950					Standard	NM_031296		Approved	DKFZP434G099	uc003ihv.3	Q9H082	OTTHUMG00000133384	ENST00000305626.5:c.7G>A	4.37:g.140375356G>A	ENSP00000306496:p.Glu3Lys		B2R987|Q4W5B0	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E3K	ENST00000305626.5	37	c.7	CCDS3747.1	4	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613034	0.46631	.	.	ENSG00000172007	ENST00000305626	T	0.65549	-0.16	4.5	-1.6	0.08426	.	0.944696	0.08778	N	0.895102	T	0.39279	0.1072	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.33033	-0.9884	10	0.62326	D	0.03	.	8.9662	0.35879	0.1273:0.0:0.6128:0.2599	.	3	Q9H082	RB33B_HUMAN	K	3	ENSP00000306496:E3K	ENSP00000306496:E3K	E	+	1	0	RAB33B	140594806	.	.	0.523000	0.27875	0.406000	0.30931	.	.	-0.007000	0.14345	-0.521000	0.04368	GAG	RAB33B	-	NULL		0.632	RAB33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB33B	HGNC	protein_coding	OTTHUMT00000257235.2	G	NM_031296		140375356	+1	no_errors	ENST00000305626	ensembl	human	known	70_37	missense	SNP	0.016	A
RABGAP1	23637	genome.wustl.edu	37	9	125777841	125777841	+	Silent	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:125777841G>C	ENST00000373647.4	+	12	1703	c.1569G>C	c.(1567-1569)ctG>ctC	p.L523L		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	523					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AACCTCTCCTGAGTGGATCTG	0.348																																																	0													94.0	94.0	94.0					9																	125777841		2203	4300	6503	SO:0001819	synonymous_variant	23637			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.1569G>C	9.37:g.125777841G>C			B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.L523	ENST00000373647.4	37	c.1569	CCDS6848.2	9																																																																																			RABGAP1	-	NULL		0.348	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1	HGNC	protein_coding	OTTHUMT00000053976.3	G	NM_012197		125777841	+1	no_errors	ENST00000373647	ensembl	human	known	70_37	silent	SNP	1.000	C
RAD54L2	23132	genome.wustl.edu	37	3	51671288	51671288	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:51671288C>G	ENST00000409535.2	+	10	1576	c.1451C>G	c.(1450-1452)tCt>tGt	p.S484C	RAD54L2_ENST00000296477.3_Missense_Mutation_p.S178C	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	484	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		AATATCCGCTCTCGCCGCCGG	0.572																																																	0													51.0	46.0	48.0					3																	51671288		2203	4300	6503	SO:0001583	missense	23132			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.1451C>G	3.37:g.51671288C>G	ENSP00000386520:p.Ser484Cys		Q8TB57|Q9BV54	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S484C	ENST00000409535.2	37	c.1451	CCDS33765.2	3	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437110	0.83885	.	.	ENSG00000164080	ENST00000409535;ENST00000296477	D;D	0.93488	-3.23;-3.23	5.47	5.47	0.80525	DEAD-like helicase (2);SNF2-related (1);	0.109901	0.64402	D	0.000005	D	0.94588	0.8256	L	0.31207	0.915	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	D	0.95407	0.8495	10	0.87932	D	0	-13.0965	18.3084	0.90190	0.0:1.0:0.0:0.0	.	484;75	Q9Y4B4;B3KV54	ARIP4_HUMAN;.	C	484;178	ENSP00000386520:S484C;ENSP00000296477:S178C	ENSP00000296477:S178C	S	+	2	0	RAD54L2	51646328	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.770000	0.85390	2.567000	0.86603	0.561000	0.74099	TCT	RAD54L2	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.572	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	HGNC	protein_coding	OTTHUMT00000328700.2	C	NM_015106		51671288	+1	no_errors	ENST00000409535	ensembl	human	known	70_37	missense	SNP	1.000	G
RARG	5916	genome.wustl.edu	37	12	53608313	53608313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:53608313G>A	ENST00000425354.2	-	6	1040	c.553C>T	c.(553-555)Cag>Tag	p.Q185*	RARG_ENST00000394426.1_Nonsense_Mutation_p.Q185*|RARG_ENST00000338561.5_Nonsense_Mutation_p.Q174*|RARG_ENST00000543726.1_Nonsense_Mutation_p.Q163*|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Nonsense_Mutation_p.Q113*	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	185	Hinge.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	TCTTCTAACTGAGGGCTCAGC	0.547																																																	0													178.0	159.0	165.0					12																	53608313		2203	4300	6503	SO:0001587	stop_gained	5916			M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.553C>T	12.37:g.53608313G>A	ENSP00000388510:p.Gln185*		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Nonsense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.Q185*	ENST00000425354.2	37	c.553	CCDS8850.1	12	.	.	.	.	.	.	.	.	.	.	G	39	7.882801	0.98542	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	.	.	.	4.97	4.05	0.47172	.	0.053385	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	13.0115	0.58733	0.0:0.4409:0.5591:0.0	.	.	.	.	X	185;185;113;174;163;222	.	ENSP00000332695:Q113X	Q	-	1	0	RARG	51894580	1.000000	0.71417	0.993000	0.49108	0.928000	0.56348	4.578000	0.60929	1.407000	0.46875	0.655000	0.94253	CAG	RARG	-	superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt		0.547	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RARG	HGNC	protein_coding	OTTHUMT00000109404.2	G	NM_000966		53608313	-1	no_errors	ENST00000394426	ensembl	human	known	70_37	nonsense	SNP	1.000	A
RAN	5901	genome.wustl.edu	37	12	131360460	131360460	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:131360460G>A	ENST00000543796.1	+	7	898	c.640G>A	c.(640-642)Gat>Aat	p.D214N	RAN_ENST00000254675.3_Missense_Mutation_p.D126N|RAN_ENST00000541630.1_Missense_Mutation_p.D126N|RAN_ENST00000392369.2_Missense_Mutation_p.D214N|RAN_ENST00000392367.3_Missense_Mutation_p.D231N			P62826	RAN_HUMAN	RAN, member RAS oncogene family	214					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|cellular protein complex localization (GO:0034629)|DNA metabolic process (GO:0006259)|gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		GGATGAGGATGATGACCTGTG	0.493																																																	0													130.0	122.0	125.0					12																	131360460		2203	4300	6503	SO:0001583	missense	5901			M31469	CCDS9271.1, CCDS73546.1	12q24.33	2014-05-09			ENSG00000132341	ENSG00000132341			9846	protein-coding gene	gene with protein product		601179				8421051	Standard	XM_005253592		Approved	ARA24, TC4, Gsp1	uc001uir.3	P62826	OTTHUMG00000134328	ENST00000543796.1:c.640G>A	12.37:g.131360460G>A	ENSP00000446215:p.Asp214Asn		A8K3Z8|P17080|P28746|P28747|Q6IPB2|Q86V08|Q8NI90|Q9CSP3|Q9CWI7|Q9CZA2|Q9UDJ5|Q9UEU9	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.D214N	ENST00000543796.1	37	c.640	CCDS9271.1	12	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902762	0.72754	.	.	ENSG00000132341	ENST00000543796;ENST00000448750;ENST00000541630;ENST00000392369;ENST00000254675;ENST00000392367	T;T;D;T;D;T	0.85013	-0.59;-0.65;-1.93;-0.59;-1.93;-0.71	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	D	0.89015	0.6595	M	0.93720	3.45	0.80722	D	1	B;B	0.13145	0.007;0.007	B;B	0.15052	0.012;0.012	D	0.88646	0.3179	10	0.52906	T	0.07	-26.7775	16.0665	0.80887	0.0:0.0:1.0:0.0	.	214;214	A8K3Z8;P62826	.;RAN_HUMAN	N	214;232;126;214;126;231	ENSP00000446215:D214N;ENSP00000396127:D232N;ENSP00000441210:D126N;ENSP00000376176:D214N;ENSP00000254675:D126N;ENSP00000376174:D231N	ENSP00000254675:D126N	D	+	1	0	RAN	129926413	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.046000	0.93817	2.095000	0.63458	0.655000	0.94253	GAT	RAN	-	smart_Ran_GTPase		0.493	RAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAN	HGNC	protein_coding	OTTHUMT00000259441.2	G	NM_006325		131360460	+1	no_errors	ENST00000392369	ensembl	human	known	70_37	missense	SNP	1.000	A
RASA4B	100271927	genome.wustl.edu	37	7	102129561	102129561	+	Intron	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:102129561G>A	ENST00000465829.1	-	18	2039				RASA4B_ENST00000541662.1_Intron|RASA4B_ENST00000306682.6_Intron|RP11-514P8.8_ENST00000481893.1_RNA			C9J798	RAS4B_HUMAN	RAS p21 protein activator 4B						intracellular signal transduction (GO:0035556)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			skin(1)	1						GGAAGGCACCGGGATGGTAGG	0.592																																																	0																																										SO:0001627	intron_variant	100271927				CCDS59506.1	7q22.1	2013-01-10			ENSG00000170667	ENSG00000170667		"""Pleckstrin homology (PH) domain containing"""	35202	protein-coding gene	gene with protein product							Standard	NM_001277335		Approved		uc003uzu.2	C9J798	OTTHUMG00000022944	ENST00000465829.1:c.1969-516C>T	7.37:g.102129561G>A				Missense_Mutation	SNP	superfamily_Rho_GTPase_activation_prot,pfscan_RasGAP	p.R185W	ENST00000465829.1	37	c.553		7																																																																																			RASA4B	-	NULL		0.592	RASA4B-001	KNOWN	basic|appris_candidate_longest	protein_coding	RASA4B	HGNC	protein_coding	OTTHUMT00000059600.6	G	XM_003118600		102129561	-1	no_errors	ENST00000488284	ensembl	human	known	70_37	missense	SNP	0.453	A
RBM34	23029	genome.wustl.edu	37	1	235295225	235295225	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:235295225C>G	ENST00000408888.3	-	11	1326	c.1096G>C	c.(1096-1098)Gaa>Caa	p.E366Q	TOMM20_ENST00000366607.4_5'Flank|RBM34_ENST00000366606.3_Missense_Mutation_p.E361Q|RBM34_ENST00000495224.1_5'UTR			P42696	RBM34_HUMAN	RNA binding motif protein 34	366						nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TTAAATTTTTCTTTATTAACA	0.328																																																	0													83.0	77.0	79.0					1																	235295225		1813	4068	5881	SO:0001583	missense	23029				CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"""RNA binding motif (RRM) containing"""	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.1096G>C	1.37:g.235295225C>G	ENSP00000386226:p.Glu366Gln		A8K8J7|Q8N2Z8|Q9H5A1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E366Q	ENST00000408888.3	37	c.1096	CCDS41477.2	1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402037	0.42613	.	.	ENSG00000188739	ENST00000408888;ENST00000366606;ENST00000447801	T;T;T	0.74842	-0.88;-0.88;-0.88	5.64	3.77	0.43336	Nucleotide-binding, alpha-beta plait (1);	0.307811	0.36167	N	0.002741	T	0.72120	0.3421	M	0.79805	2.47	0.30692	N	0.751226	B	0.27910	0.193	B	0.25987	0.065	T	0.68096	-0.5499	10	0.30854	T	0.27	-26.9465	9.7272	0.40339	0.0:0.779:0.0:0.221	.	366	P42696	RBM34_HUMAN	Q	366;361;344	ENSP00000386226:E366Q;ENSP00000355565:E361Q;ENSP00000400000:E344Q	ENSP00000355565:E361Q	E	-	1	0	RBM34	233361848	1.000000	0.71417	0.995000	0.50966	0.938000	0.57974	2.510000	0.45468	0.741000	0.32674	0.563000	0.77884	GAA	RBM34	-	NULL		0.328	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM34	HGNC	protein_coding	OTTHUMT00000100146.1	C	NM_015014		235295225	-1	no_errors	ENST00000408888	ensembl	human	known	70_37	missense	SNP	0.519	G
REG3A	5068	genome.wustl.edu	37	2	79386527	79386527	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:79386527A>G	ENST00000409839.3	-	2	41	c.5T>C	c.(4-6)cTg>cCg	p.L2P	REG3A_ENST00000393878.1_Missense_Mutation_p.L2P|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.L2P	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	2					acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)	p.L2P(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CATGGGAGGCAGCATAGTGTC	0.527																																																	1	Substitution - Missense(1)	lung(1)											167.0	122.0	137.0					2																	79386527		2203	4300	6503	SO:0001583	missense	5068			S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.5T>C	2.37:g.79386527A>G	ENSP00000386630:p.Leu2Pro			Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L2P	ENST00000409839.3	37	c.5	CCDS1965.1	2	.	.	.	.	.	.	.	.	.	.	A	11.45	1.642837	0.29246	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.18338	2.22;2.22;2.22	3.87	-1.52	0.08637	.	1.019060	0.07891	N	0.971183	T	0.22589	0.0545	M	0.86573	2.825	0.09310	N	1	B	0.17038	0.02	B	0.15052	0.012	T	0.42916	-0.9423	10	0.87932	D	0	.	3.9809	0.09495	0.4147:0.3714:0.2139:0.0	.	2	Q06141	REG3A_HUMAN	P	2	ENSP00000386630:L2P;ENSP00000377456:L2P;ENSP00000304311:L2P	ENSP00000304311:L2P	L	-	2	0	REG3A	79240035	0.068000	0.21057	0.001000	0.08648	0.176000	0.22953	0.857000	0.27831	-0.257000	0.09459	0.491000	0.48974	CTG	REG3A	-	NULL		0.527	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG3A	HGNC	protein_coding	OTTHUMT00000252290.2	A	NM_002580		79386527	-1	no_errors	ENST00000305165	ensembl	human	known	70_37	missense	SNP	0.001	G
RBM43	375287	genome.wustl.edu	37	2	152117885	152117885	+	Intron	SNP	G	G	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:152117885G>T	ENST00000331426.5	-	1	155				RBM43_ENST00000409092.1_Missense_Mutation_p.R48S	NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43								nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		AACAGCCTGCGAAGCAGCTCC	0.607																																																	0																																										SO:0001627	intron_variant	375287			AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"""RNA binding motif (RRM) containing"""	24790	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 38"""	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.3+353C>A	2.37:g.152117885G>T			B2RMT5	Missense_Mutation	SNP	NULL	p.R48S	ENST00000331426.5	37	c.142	CCDS2191.1	2	.	.	.	.	.	.	.	.	.	.	G	7.471	0.646717	0.14516	.	.	ENSG00000184898	ENST00000409092	.	.	.	1.9	-0.128	0.13506	.	.	.	.	.	T	0.34542	0.0901	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38200	-0.9672	5	0.87932	D	0	.	2.4134	0.04430	0.1879:0.0:0.4889:0.3231	.	.	.	.	S	48	.	ENSP00000386440:R48S	R	-	1	0	RBM43	151826131	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	-0.002000	0.12924	-0.054000	0.13266	0.305000	0.20034	CGC	RBM43	-	NULL		0.607	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM43	HGNC	protein_coding	OTTHUMT00000254816.2	G	NM_198557		152117885	-1	no_errors	ENST00000409092	ensembl	human	putative	70_37	missense	SNP	0.001	T
RLIM	51132	genome.wustl.edu	37	X	73812278	73812278	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:73812278G>T	ENST00000332687.6	-	4	1090	c.872C>A	c.(871-873)aCa>aAa	p.T291K	RLIM_ENST00000349225.2_Missense_Mutation_p.T291K	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	291					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGCATTTCTTGTTCCAGAAGC	0.488																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)												0													69.0	61.0	64.0					X																	73812278		2203	4300	6503	SO:0001583	missense	51132			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.872C>A	X.37:g.73812278G>T	ENSP00000328059:p.Thr291Lys		B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.T291K	ENST00000332687.6	37	c.872	CCDS14427.1	X	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304900	0.23736	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.08370	3.1;3.1	5.79	2.71	0.32032	.	0.615068	0.17163	N	0.184608	T	0.07863	0.0197	L	0.42245	1.32	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.22068	-1.0227	10	0.40728	T	0.16	-1.8137	8.7377	0.34539	0.1616:0.1275:0.7109:0.0	.	291	Q9NVW2	RNF12_HUMAN	K	291	ENSP00000328059:T291K;ENSP00000253571:T291K	ENSP00000328059:T291K	T	-	2	0	RLIM	73729003	0.977000	0.34250	0.999000	0.59377	0.963000	0.63663	3.468000	0.53086	1.205000	0.43262	0.600000	0.82982	ACA	RLIM	-	NULL		0.488	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLIM	HGNC	protein_coding	OTTHUMT00000057268.1	G	NM_016120		73812278	-1	no_errors	ENST00000332687	ensembl	human	known	70_37	missense	SNP	0.032	T
RLIM	51132	genome.wustl.edu	37	X	73812297	73812297	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:73812297G>A	ENST00000332687.6	-	4	1071	c.853C>T	c.(853-855)Ctt>Ttt	p.L285F	RLIM_ENST00000349225.2_Missense_Mutation_p.L285F	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	285					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCTGCAAAAAGACCTCTACTT	0.483																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)												0													75.0	68.0	71.0					X																	73812297		2203	4300	6503	SO:0001583	missense	51132			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.853C>T	X.37:g.73812297G>A	ENSP00000328059:p.Leu285Phe		B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L285F	ENST00000332687.6	37	c.853	CCDS14427.1	X	.	.	.	.	.	.	.	.	.	.	G	9.241	1.038221	0.19669	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.08720	3.06;3.06	5.79	3.64	0.41730	.	0.516617	0.19397	N	0.115269	T	0.09730	0.0239	L	0.55990	1.75	0.09310	N	0.999995	B	0.21381	0.055	B	0.18263	0.021	T	0.15464	-1.0436	10	0.41790	T	0.15	-7.0639	10.7057	0.45954	0.0809:0.0:0.7848:0.1342	.	285	Q9NVW2	RNF12_HUMAN	F	285	ENSP00000328059:L285F;ENSP00000253571:L285F	ENSP00000328059:L285F	L	-	1	0	RLIM	73729022	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	3.949000	0.56668	1.147000	0.42369	0.600000	0.82982	CTT	RLIM	-	NULL		0.483	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLIM	HGNC	protein_coding	OTTHUMT00000057268.1	G	NM_016120		73812297	-1	no_errors	ENST00000332687	ensembl	human	known	70_37	missense	SNP	0.023	A
RNF180	285671	genome.wustl.edu	37	5	63621060	63621060	+	Silent	SNP	A	A	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:63621060A>G	ENST00000389100.4	+	6	1347	c.1275A>G	c.(1273-1275)gaA>gaG	p.E425E		NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	425	Interaction with ZIC2. {ECO:0000250}.				adult behavior (GO:0030534)|norepinephrine metabolic process (GO:0042415)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|regulation of catalytic activity (GO:0050790)|serotonin metabolic process (GO:0042428)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		AATATGCAGAAGAAAAGGATA	0.368																																																	0													291.0	241.0	256.0					5																	63621060		692	1591	2283	SO:0001819	synonymous_variant	285671			AK090756	CCDS34169.1, CCDS47219.1	5q12.3	2013-01-09			ENSG00000164197	ENSG00000164197		"""RING-type (C3HC4) zinc fingers"""	27752	protein-coding gene	gene with protein product							Standard	NM_178532		Approved		uc003jti.3	Q86T96	OTTHUMG00000162278	ENST00000389100.4:c.1275A>G	5.37:g.63621060A>G			Q0JSU3|Q495A8|Q8NBD1	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E425	ENST00000389100.4	37	c.1275	CCDS47219.1	5																																																																																			RNF180	-	NULL		0.368	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF180	HGNC	protein_coding	OTTHUMT00000368394.1	A	NM_178532		63621060	+1	no_errors	ENST00000389100	ensembl	human	known	70_37	silent	SNP	0.865	G
RNF207	388591	genome.wustl.edu	37	1	6273207	6273207	+	Missense_Mutation	SNP	G	G	A	rs201773865	byFrequency	TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:6273207G>A	ENST00000377939.4	+	16	1743	c.1616G>A	c.(1615-1617)cGc>cAc	p.R539H	RNF207_ENST00000377948.2_3'UTR|RNF207_ENST00000483336.1_3'UTR	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	539			R -> C (in dbSNP:rs55823245).			intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CCCTACGTCCGCTCCATTGCC	0.622													G|||	11	0.00219649	0.0	0.0	5008	,	,		17942	0.0099		0.0	False		,,,				2504	0.001																0								G	HIS/ARG	4,3972		0,4,1984	41.0	46.0	44.0		1616	0.9	0.6	1		44	0,8316		0,0,4158	yes	missense	RNF207	NM_207396.2	29	0,4,6142	AA,AG,GG		0.0,0.1006,0.0325	possibly-damaging	539/635	6273207	4,12288	1988	4158	6146	SO:0001583	missense	388591			AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"""RING-type (C3HC4) zinc fingers"""	32947	protein-coding gene	gene with protein product	"""OTTHUMG00000001089"""		"""chromosome 1 open reading frame 188"""	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.1616G>A	1.37:g.6273207G>A	ENSP00000367173:p.Arg539His		A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Missense_Mutation	SNP	pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING	p.R539H	ENST00000377939.4	37	c.1616	CCDS59.2	1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641701	0.67244	0.001006	0.0	ENSG00000158286	ENST00000377939	T	0.19532	2.14	4.89	0.936	0.19488	.	0.067165	0.64402	D	0.000012	T	0.20007	0.0481	M	0.68952	2.095	0.80722	D	1	D	0.55605	0.972	B	0.42214	0.38	T	0.02533	-1.1145	10	0.62326	D	0.03	-10.5828	6.1644	0.20382	0.2112:0.0:0.6578:0.1311	.	539	Q6ZRF8	RN207_HUMAN	H	539	ENSP00000367173:R539H	ENSP00000367173:R539H	R	+	2	0	RNF207	6195794	1.000000	0.71417	0.644000	0.29465	0.976000	0.68499	0.939000	0.28978	-0.079000	0.12707	-0.475000	0.04921	CGC	RNF207	-	NULL		0.622	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RNF207	HGNC	protein_coding	OTTHUMT00000003669.2	G	NM_207396		6273207	+1	no_errors	ENST00000377939	ensembl	human	novel	70_37	missense	SNP	1.000	A
RNF213	57674	genome.wustl.edu	37	17	78280985	78280985	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:78280985G>C	ENST00000582970.1	+	13	2628	c.2485G>C	c.(2485-2487)Gac>Cac	p.D829H	RNF213_ENST00000508628.2_Missense_Mutation_p.D878H|RNF213_ENST00000456466.1_Missense_Mutation_p.D829H|RNF213_ENST00000319921.4_Missense_Mutation_p.D829H	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	829					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCGACTCCTGGACACTTACCG	0.488																																																	0													136.0	134.0	135.0					17																	78280985		2203	4300	6503	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.2485G>C	17.37:g.78280985G>C	ENSP00000464087:p.Asp829His		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.D829H	ENST00000582970.1	37	c.2485	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	5.771	0.326613	0.10900	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	T;T	0.13538	2.58;2.58	4.2	2.2	0.27929	.	0.594071	0.15226	N	0.273672	T	0.29355	0.0731	M	0.69823	2.125	0.25631	N	0.986306	D;D	0.89917	0.999;1.0	D;D	0.66979	0.948;0.948	T	0.03296	-1.1051	10	0.72032	D	0.01	-10.8551	6.0291	0.19671	0.2305:0.0:0.7695:0.0	.	829;829	Q9HCF4;Q9HCF4-2	ALO17_HUMAN;.	H	829;878;829;829	ENSP00000392123:D829H;ENSP00000324392:D829H	ENSP00000324392:D829H	D	+	1	0	RNF213	75895580	0.928000	0.31464	0.206000	0.23566	0.003000	0.03518	0.327000	0.19663	1.112000	0.41740	0.655000	0.94253	GAC	RNF213	-	NULL		0.488	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	G	NM_020914		78280985	+1	no_errors	ENST00000582970	ensembl	human	known	70_37	missense	SNP	0.210	C
RNPC3	55599	genome.wustl.edu	37	1	104086054	104086054	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:104086054G>A	ENST00000533099.1	+	10	1266	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K	RNPC3_ENST00000524631.1_Missense_Mutation_p.E343K|RNPC3_ENST00000423855.2_Missense_Mutation_p.E344K			Q96LT9	RBM40_HUMAN	RNA-binding region (RNP1, RRM) containing 3	344	Necessary for binding to m(7)G-capped U12 snRNA.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Lung(183;0.111)|Epithelial(280;0.122)|all cancers(265;0.125)|Colorectal(144;0.163)		ACAAAATTGTGAGGAAAAAAA	0.299																																																	0													58.0	51.0	53.0					1																	104086054		692	1587	2279	SO:0001583	missense	55599			AB058742, AY099329	CCDS781.1	1p21.1	2013-07-16			ENSG00000185946	ENSG00000185946		"""RNA binding motif (RRM) containing"""	18666	protein-coding gene	gene with protein product	"""U11/U12 snRNP 65K"""					14974681, 15146077	Standard	NM_017619		Approved	KIAA1839, FLJ20008, RBM40, SNRNP65	uc010oun.2	Q96LT9	OTTHUMG00000166613	ENST00000533099.1:c.1030G>A	1.37:g.104086054G>A	ENSP00000432886:p.Glu344Lys		A8K1C9|D3DT74|Q5TZ87|Q96FK7|Q96JI8|Q9NSU7|Q9NXX2	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E344K	ENST00000533099.1	37	c.1030	CCDS781.1	1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832342	0.32421	.	.	ENSG00000185946	ENST00000524631;ENST00000533099;ENST00000423855	T;T;T	0.17854	2.26;2.25;2.25	5.46	5.46	0.80206	.	.	.	.	.	T	0.07052	0.0179	L	0.29908	0.895	0.38834	D	0.955904	B;B	0.31383	0.321;0.321	B;B	0.23275	0.045;0.045	T	0.17319	-1.0373	9	0.29301	T	0.29	.	19.3061	0.94163	0.0:0.0:1.0:0.0	.	343;344	A8K1C9;Q96LT9	.;RBM40_HUMAN	K	343;344;344	ENSP00000437278:E343K;ENSP00000432886:E344K;ENSP00000391432:E344K	ENSP00000391432:E344K	E	+	1	0	RNPC3	.	1.000000	0.71417	0.851000	0.33527	0.764000	0.43329	4.261000	0.58841	2.576000	0.86940	0.655000	0.94253	GAG	RNPC3	-	NULL		0.299	RNPC3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNPC3	HGNC	protein_coding	OTTHUMT00000390812.1	G	NM_017619		104086054	+1	no_errors	ENST00000423855	ensembl	human	known	70_37	missense	SNP	0.991	A
RORC	6097	genome.wustl.edu	37	1	151785517	151785517	+	Silent	SNP	G	G	A	rs539370245		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:151785517G>A	ENST00000318247.6	-	9	1298	c.1191C>T	c.(1189-1191)atC>atT	p.I397I	RORC_ENST00000356728.6_Silent_p.I376I|RORC_ENST00000392697.3_Silent_p.I451I|RORC_ENST00000480719.1_5'UTR	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	397	Ligand-binding.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGATGGAGCTGATGAGCTCGC	0.527																																																	0													92.0	75.0	81.0					1																	151785517		2203	4300	6503	SO:0001819	synonymous_variant	6097			U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.1191C>T	1.37:g.151785517G>A			Q5SZR9|Q8N5V7|Q8NCY8	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt	p.I451	ENST00000318247.6	37	c.1353	CCDS1004.1	1																																																																																			RORC	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.527	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RORC	HGNC	protein_coding	OTTHUMT00000036626.1	G			151785517	-1	no_errors	ENST00000392697	ensembl	human	known	70_37	silent	SNP	1.000	A
RP1	6101	genome.wustl.edu	37	8	55540312	55540312	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:55540312G>C	ENST00000220676.1	+	4	4018	c.3870G>C	c.(3868-3870)caG>caC	p.Q1290H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1290					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTGTGGATCAGACTTCTATGA	0.408																																					Colon(91;1014 1389 7634 14542 40420)												0													153.0	151.0	152.0					8																	55540312		2203	4300	6503	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3870G>C	8.37:g.55540312G>C	ENSP00000220676:p.Gln1290His			Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.Q1290H	ENST00000220676.1	37	c.3870	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	9.096	1.002976	0.19121	.	.	ENSG00000104237	ENST00000220676	T	0.24151	1.87	5.57	4.7	0.59300	.	0.553758	0.16583	N	0.208139	T	0.32971	0.0847	L	0.34521	1.04	0.31887	N	0.617722	D	0.67145	0.996	P	0.57371	0.819	T	0.39099	-0.9630	10	0.87932	D	0	-0.3265	10.3889	0.44156	0.0901:0.0:0.9099:0.0	.	1290	P56715	RP1_HUMAN	H	1290	ENSP00000220676:Q1290H	ENSP00000220676:Q1290H	Q	+	3	2	RP1	55702865	0.996000	0.38824	0.771000	0.31576	0.119000	0.20118	3.581000	0.53914	1.360000	0.45960	-0.136000	0.14681	CAG	RP1	-	NULL		0.408	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	G	NM_006269		55540312	+1	no_errors	ENST00000220676	ensembl	human	known	70_37	missense	SNP	0.969	C
RPGRIP1	57096	genome.wustl.edu	37	14	21780021	21780021	+	Silent	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:21780021C>G	ENST00000400017.2	+	8	969	c.969C>G	c.(967-969)ctC>ctG	p.L323L	RPGRIP1_ENST00000206660.6_Silent_p.L323L|RPGRIP1_ENST00000556336.1_Silent_p.L296L|RPGRIP1_ENST00000557771.1_Silent_p.L296L	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	323					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AGGCCCTCCTCAAGCAAGTGA	0.507																																																	0													45.0	45.0	45.0					14																	21780021		1933	4145	6078	SO:0001819	synonymous_variant	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.969C>G	14.37:g.21780021C>G			Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Silent	SNP	pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.L323	ENST00000400017.2	37	c.969	CCDS45080.1	14																																																																																			RPGRIP1	-	NULL		0.507	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1	C	NM_020366		21780021	+1	no_errors	ENST00000206660	ensembl	human	known	70_37	silent	SNP	0.001	G
RPS21	6227	genome.wustl.edu	37	20	60962391	60962391	+	5'UTR	SNP	C	C	G	rs113533682		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr20:60962391C>G	ENST00000343986.4	+	0	36				RPS21_ENST00000492356.2_3'UTR|RPS21_ENST00000450116.2_5'UTR|RPS21_ENST00000370562.1_5'UTR	NM_001024.3	NP_001015.1	P63220	RS21_HUMAN	ribosomal protein S21						cellular protein metabolic process (GO:0044267)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000461)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|structural constituent of ribosome (GO:0003735)			endometrium(2)|lung(1)|prostate(1)	4	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AGCCCAGCCTCGAAATGCAGA	0.692																																																	0													76.0	67.0	70.0					20																	60962391		2193	4296	6489	SO:0001623	5_prime_UTR_variant	6227			L04483	CCDS13497.1	20q13.3	2011-04-05			ENSG00000171858	ENSG00000171858		"""S ribosomal proteins"""	10409	protein-coding gene	gene with protein product	"""8.2 kDa differentiation factor"""	180477				8332502, 9582194	Standard	NM_001024		Approved	S21	uc002ycr.3	P63220	OTTHUMG00000032915	ENST00000343986.4:c.-4C>G	20.37:g.60962391C>G			P35265	RNA	SNP	-	NULL	ENST00000343986.4	37	NULL	CCDS13497.1	20																																																																																			RPS21	-	-		0.692	RPS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPS21	HGNC	protein_coding	OTTHUMT00000080031.2	C	NM_001024		60962391	+1	no_errors	ENST00000492356	ensembl	human	known	70_37	rna	SNP	0.000	G
RPUSD4	84881	genome.wustl.edu	37	11	126081456	126081456	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:126081456G>A	ENST00000298317.4	-	1	131	c.78C>T	c.(76-78)ctC>ctT	p.L26L	RPUSD4_ENST00000534393.1_5'Flank|FAM118B_ENST00000360194.4_5'Flank|RPUSD4_ENST00000533628.1_Silent_p.L26L|RNU4-86P_ENST00000410135.1_RNA|FAM118B_ENST00000533050.1_5'UTR|FAM118B_ENST00000529731.1_5'Flank|RP11-50B3.4_ENST00000532866.1_RNA	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	26					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		GCTTTGAGACGAGAGTGAAGA	0.617																																																	0													95.0	104.0	101.0					11																	126081456		2201	4299	6500	SO:0001819	synonymous_variant	84881			BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"""RNA pseudouridylate synthase domain containing"""	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.78C>T	11.37:g.126081456G>A			E9PML2|Q96K56	Silent	SNP	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom	p.L26	ENST00000298317.4	37	c.78	CCDS8469.1	11																																																																																			RPUSD4	-	NULL		0.617	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPUSD4	HGNC	protein_coding	OTTHUMT00000386336.1	G	NM_032795		126081456	-1	no_errors	ENST00000298317	ensembl	human	known	70_37	silent	SNP	0.000	A
RSPH3	83861	genome.wustl.edu	37	6	159403702	159403702	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:159403702C>G	ENST00000252655.1	-	5	1126	c.937G>C	c.(937-939)Gaa>Caa	p.E313Q	RSPH3_ENST00000449822.1_Missense_Mutation_p.E75Q|RSPH3_ENST00000297262.3_Missense_Mutation_p.E217Q|RSPH3_ENST00000367069.2_Missense_Mutation_p.E171Q	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	313										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GGTTTAACTTCAAGATCAAAG	0.348																																																	0													52.0	51.0	52.0					6																	159403702		2203	4300	6503	SO:0001583	missense	83861			AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"""radial spokehead-like 2"""	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.937G>C	6.37:g.159403702C>G	ENSP00000252655:p.Glu313Gln		Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	pfam_Radial_spoke_3	p.E313Q	ENST00000252655.1	37	c.937	CCDS5260.1	6	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727359	0.89390	.	.	ENSG00000130363	ENST00000367069;ENST00000449822;ENST00000252655;ENST00000297262	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.41	5.41	0.78517	.	0.099058	0.64402	D	0.000002	T	0.61515	0.2353	M	0.93062	3.375	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.71178	-0.4669	10	0.62326	D	0.03	-15.3967	18.8138	0.92070	0.0:1.0:0.0:0.0	.	217;313	Q86UC2-2;Q86UC2	.;RSPH3_HUMAN	Q	171;75;313;217	ENSP00000356036:E171Q;ENSP00000393195:E75Q;ENSP00000252655:E313Q;ENSP00000297262:E217Q	ENSP00000252655:E313Q	E	-	1	0	RSPH3	159323690	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.187000	0.77730	2.534000	0.85438	0.655000	0.94253	GAA	RSPH3	-	pfam_Radial_spoke_3		0.348	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH3	HGNC	protein_coding		C	NM_031924		159403702	-1	no_errors	ENST00000252655	ensembl	human	known	70_37	missense	SNP	0.992	G
RUNX1T1	862	genome.wustl.edu	37	8	92988170	92988170	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:92988170C>T	ENST00000523629.1	-	10	1765	c.1311G>A	c.(1309-1311)gcG>gcA	p.A437A	RUNX1T1_ENST00000436581.2_Silent_p.A448A|RUNX1T1_ENST00000360348.2_Silent_p.A400A|RUNX1T1_ENST00000518844.1_Silent_p.A410A|RUNX1T1_ENST00000422361.2_Silent_p.A400A|RUNX1T1_ENST00000396218.1_Silent_p.A410A|GS1-5L10.1_ENST00000522980.1_RNA|RUNX1T1_ENST00000520724.1_Silent_p.A400A|RUNX1T1_ENST00000265814.3_Silent_p.A437A	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	437					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A400A(1)|p.A448A(1)|p.A437A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CGTATCCAGACGCAGGCCTGT	0.483																																																	3	Substitution - coding silent(3)	large_intestine(3)											123.0	123.0	123.0					8																	92988170		2203	4300	6503	SO:0001819	synonymous_variant	862			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1311G>A	8.37:g.92988170C>T			B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.A448	ENST00000523629.1	37	c.1344	CCDS6256.1	8																																																																																			RUNX1T1	-	NULL		0.483	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	C	NM_004349, NM_175635		92988170	-1	no_errors	ENST00000436581	ensembl	human	known	70_37	silent	SNP	0.766	T
RYR1	6261	genome.wustl.edu	37	19	38991553	38991553	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:38991553G>A	ENST00000359596.3	+	47	7537	c.7537G>A	c.(7537-7539)Gag>Aag	p.E2513K	RYR1_ENST00000355481.4_Missense_Mutation_p.E2513K|RYR1_ENST00000360985.3_Missense_Mutation_p.E2513K			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2513	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.E2513Q(1)|p.E2513*(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GTATGGCATCGAGAACCAGGA	0.632																																																	2	Substitution - Missense(1)|Substitution - Nonsense(1)	lung(2)											102.0	71.0	81.0					19																	38991553		2203	4300	6503	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7537G>A	19.37:g.38991553G>A	ENSP00000352608:p.Glu2513Lys		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.E2513K	ENST00000359596.3	37	c.7537	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383010	0.42207	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97161	-4.27;-4.27;-4.27	4.41	4.41	0.53225	.	0.075454	0.50627	U	0.000103	D	0.93245	0.7848	L	0.37561	1.115	0.52099	D	0.999949	P;P	0.52577	0.954;0.923	B;B	0.36608	0.229;0.114	D	0.92988	0.6412	10	0.33940	T	0.23	.	15.9284	0.79639	0.0:0.0:1.0:0.0	.	2513;2513	P21817-2;P21817	.;RYR1_HUMAN	K	2513	ENSP00000352608:E2513K;ENSP00000347667:E2513K;ENSP00000354254:E2513K	ENSP00000347667:E2513K	E	+	1	0	RYR1	43683393	1.000000	0.71417	0.986000	0.45419	0.416000	0.31233	6.561000	0.73955	2.259000	0.74868	0.491000	0.48974	GAG	RYR1	-	NULL		0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	G			38991553	+1	no_errors	ENST00000359596	ensembl	human	known	70_37	missense	SNP	1.000	A
RYR2	6262	genome.wustl.edu	37	1	237886488	237886488	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:237886488G>A	ENST00000366574.2	+	74	10932	c.10615G>A	c.(10615-10617)Gat>Aat	p.D3539N	RYR2_ENST00000542537.1_Missense_Mutation_p.D3523N|RYR2_ENST00000360064.6_Missense_Mutation_p.D3537N|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3539					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAACAGGACTGATGATACCTC	0.398																																																	0													183.0	172.0	175.0					1																	237886488		1868	4100	5968	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10615G>A	1.37:g.237886488G>A	ENSP00000355533:p.Asp3539Asn		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.D3537N	ENST00000366574.2	37	c.10609	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759483	0.69763	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96459	-4.02;-3.99;-4.02	5.9	4.99	0.66335	.	0.167461	0.36482	N	0.002579	D	0.91205	0.7229	N	0.08118	0	0.80722	D	1	B	0.23540	0.087	B	0.26416	0.069	D	0.88218	0.2895	10	0.56958	D	0.05	-11.2112	15.3396	0.74284	0.067:0.0:0.933:0.0	.	3539	Q92736	RYR2_HUMAN	N	3539;3537;3523;494	ENSP00000355533:D3539N;ENSP00000353174:D3537N;ENSP00000443798:D3523N	ENSP00000353174:D3537N	D	+	1	0	RYR2	235953111	1.000000	0.71417	0.431000	0.26735	0.975000	0.68041	9.539000	0.98076	1.509000	0.48786	0.455000	0.32223	GAT	RYR2	-	NULL		0.398	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237886488	+1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	0.997	A
SCAPER	49855	genome.wustl.edu	37	15	77021070	77021070	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr15:77021070C>G	ENST00000563290.1	-	17	2126	c.2031G>C	c.(2029-2031)aaG>aaC	p.K677N	SCAPER_ENST00000324767.7_Missense_Mutation_p.K677N|SCAPER_ENST00000538941.2_Missense_Mutation_p.K431N			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	677	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CTAGAGCTCTCTTGCGTTCCT	0.358																																																	0													57.0	57.0	57.0					15																	77021070		1819	4070	5889	SO:0001583	missense	49855			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2031G>C	15.37:g.77021070C>G	ENSP00000454973:p.Lys677Asn		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	smart_Znf_U1	p.K677N	ENST00000563290.1	37	c.2031	CCDS53962.1	15	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253499	0.59212	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.27720	1.67;1.65	5.12	1.77	0.24775	.	0.043130	0.85682	D	0.000000	T	0.35364	0.0929	N	0.24115	0.695	0.46654	D	0.999146	D;D	0.76494	0.997;0.999	D;D	0.69824	0.962;0.966	T	0.08086	-1.0739	10	0.56958	D	0.05	.	9.318	0.37946	0.0:0.5256:0.0:0.4744	.	698;431	Q9BY12-2;F5H7X8	.;.	N	677;431;699	ENSP00000326924:K677N;ENSP00000442190:K431N	ENSP00000303560:K699N	K	-	3	2	SCAPER	74808125	0.998000	0.40836	0.997000	0.53966	0.990000	0.78478	0.499000	0.22546	0.485000	0.27652	0.563000	0.77884	AAG	SCAPER	-	NULL		0.358	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1	C	NM_020843		77021070	-1	no_errors	ENST00000324767	ensembl	human	known	70_37	missense	SNP	0.992	G
SCMH1	22955	genome.wustl.edu	37	1	41494305	41494305	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:41494305C>T	ENST00000326197.7	-	14	2107	c.1808G>A	c.(1807-1809)cGg>cAg	p.R603Q	SCMH1_ENST00000472037.1_5'UTR|SCMH1_ENST00000372595.1_Missense_Mutation_p.R542Q|SCMH1_ENST00000372597.1_Missense_Mutation_p.R534Q|SCMH1_ENST00000372596.1_Missense_Mutation_p.R520Q|SCMH1_ENST00000402904.2_Missense_Mutation_p.R603Q|SCMH1_ENST00000397174.2_Missense_Mutation_p.R561Q|SCMH1_ENST00000337495.5_Missense_Mutation_p.R591Q|SCMH1_ENST00000361705.3_Missense_Mutation_p.R534Q|SCMH1_ENST00000397171.2_Missense_Mutation_p.R520Q|SCMH1_ENST00000361191.5_Missense_Mutation_p.R520Q|SCMH1_ENST00000456518.2_Missense_Mutation_p.R423Q					sex comb on midleg homolog 1 (Drosophila)									p.R534Q(1)|p.R591Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				ATCAGCTTCCCGGACAAACTG	0.607																																																	2	Substitution - Missense(2)	large_intestine(2)											130.0	109.0	116.0					1																	41494305		2203	4300	6503	SO:0001583	missense	22955			AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.1808G>A	1.37:g.41494305C>T	ENSP00000318094:p.Arg603Gln			Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.R603Q	ENST00000326197.7	37	c.1808	CCDS30688.1	1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246901	0.59103	.	.	ENSG00000010803	ENST00000361705;ENST00000456518;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	T;T;T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	4.71	3.79	0.43588	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.064498	0.64402	N	0.000018	T	0.51381	0.1671	N	0.17901	0.54	0.32862	D	0.508098	B;P;D;P	0.71674	0.001;0.772;0.998;0.776	B;B;D;B	0.75484	0.004;0.089;0.986;0.36	T	0.58405	-0.7642	10	0.22109	T	0.4	.	15.1181	0.72419	0.0:0.9221:0.0:0.0779	.	423;591;534;603	B4DRQ8;Q96GD3-2;Q96GD3-4;Q96GD3	.;.;.;SCMH1_HUMAN	Q	534;423;603;561;520;520;534;520;591;542;603	ENSP00000354996:R534Q;ENSP00000403974:R423Q;ENSP00000386079:R603Q;ENSP00000380359:R561Q;ENSP00000380356:R520Q;ENSP00000354656:R520Q;ENSP00000361678:R534Q;ENSP00000361677:R520Q;ENSP00000337352:R591Q;ENSP00000361676:R542Q;ENSP00000318094:R603Q	ENSP00000318094:R603Q	R	-	2	0	SCMH1	41266892	0.209000	0.23505	1.000000	0.80357	0.569000	0.35902	2.218000	0.42889	0.706000	0.31912	-1.119000	0.02030	CGG	SCMH1	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.607	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SCMH1	HGNC	protein_coding	OTTHUMT00000015656.1	C			41494305	-1	no_errors	ENST00000326197	ensembl	human	known	70_37	missense	SNP	1.000	T
SCN1B	6324	genome.wustl.edu	37	19	35524562	35524562	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:35524562G>A	ENST00000262631.5	+	3	504	c.367G>A	c.(367-369)Gtc>Atc	p.V123I	CTD-2527I21.9_ENST00000601692.1_RNA|SCN1B_ENST00000595652.1_Intron|SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000415950.3_Missense_Mutation_p.V123I	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	123	Ig-like C2-type.				axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Valproic Acid(DB00313)|Zonisamide(DB00909)	CGAGTGCCACGTCTACCGCCT	0.552																																																	0													173.0	135.0	148.0					19																	35524562		2203	4300	6503	SO:0001583	missense	6324				CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10586	protein-coding gene	gene with protein product		600235	"""sodium channel, voltage-gated, type I, beta polypeptide"", ""sodium channel, voltage-gated, type I, beta"""			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.367G>A	19.37:g.35524562G>A	ENSP00000262631:p.Val123Ile		Q5TZZ4|Q6TN97	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_V-set	p.V123I	ENST00000262631.5	37	c.367	CCDS12441.1	19	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769996	0.49680	.	.	ENSG00000105711	ENST00000262631;ENST00000415950	T;T	0.32515	1.45;1.45	4.22	4.22	0.49857	Immunoglobulin (1);Immunoglobulin-like fold (1);	0.139370	0.49305	D	0.000152	T	0.26011	0.0634	N	0.10733	0.035	0.39213	D	0.963365	P;D	0.59767	0.803;0.986	B;P	0.55303	0.243;0.773	T	0.10154	-1.0642	10	0.36615	T	0.2	-43.4957	12.2758	0.54735	0.0:0.0:1.0:0.0	.	123;123	Q07699;Q07699-2	SCN1B_HUMAN;.	I	123	ENSP00000262631:V123I;ENSP00000396915:V123I	ENSP00000262631:V123I	V	+	1	0	SCN1B	40216402	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.095000	0.57728	2.351000	0.79841	0.484000	0.47621	GTC	SCN1B	-	pfam_Immunoglobulin,pfam_Ig_V-set		0.552	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN1B	HGNC	protein_coding	OTTHUMT00000461567.1	G			35524562	+1	no_errors	ENST00000262631	ensembl	human	known	70_37	missense	SNP	1.000	A
SCNN1G	6340	genome.wustl.edu	37	16	23224213	23224213	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:23224213G>A	ENST00000300061.2	+	10	1572	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	477					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)	p.E477Q(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TGTGGTTTCGGAGGTAAGTTC	0.577																																																	1	Substitution - Missense(1)	cervix(1)											73.0	66.0	68.0					16																	23224213		2197	4300	6497	SO:0001583	missense	6340			U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1429G>A	16.37:g.23224213G>A	ENSP00000300061:p.Glu477Lys		P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.E477K	ENST00000300061.2	37	c.1429	CCDS10608.1	16	.	.	.	.	.	.	.	.	.	.	G	19.28	3.798213	0.70567	.	.	ENSG00000166828	ENST00000300061	T	0.63096	-0.02	4.88	4.88	0.63580	.	0.144833	0.48286	N	0.000193	T	0.69486	0.3116	L	0.46670	1.46	0.45515	D	0.998471	D	0.58970	0.984	P	0.58873	0.847	T	0.70813	-0.4770	10	0.49607	T	0.09	-26.8374	14.758	0.69583	0.0:0.0:1.0:0.0	.	477	P51170	SCNNG_HUMAN	K	477	ENSP00000300061:E477K	ENSP00000300061:E477K	E	+	1	0	SCNN1G	23131714	1.000000	0.71417	0.925000	0.36789	0.516000	0.34256	5.220000	0.65267	2.243000	0.73865	0.561000	0.74099	GAG	SCNN1G	-	pfam_Na+channel_ASC,tigrfam_EnaC		0.577	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1G	HGNC	protein_coding	OTTHUMT00000254496.1	G	NM_001039		23224213	+1	no_errors	ENST00000300061	ensembl	human	known	70_37	missense	SNP	0.972	A
SEC24A	10802	genome.wustl.edu	37	5	134059323	134059323	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:134059323G>A	ENST00000398844.2	+	22	3418	c.3130G>A	c.(3130-3132)Gag>Aag	p.E1044K		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	1044					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGCTTAGAGAGCAGAGACC	0.368																																																	0													173.0	160.0	164.0					5																	134059323		1840	4083	5923	SO:0001583	missense	10802			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.3130G>A	5.37:g.134059323G>A	ENSP00000381823:p.Glu1044Lys		A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.E1044K	ENST00000398844.2	37	c.3130	CCDS43363.1	5	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116113	0.56505	.	.	ENSG00000113615	ENST00000398844	T	0.31510	1.49	6.03	4.24	0.50183	.	0.264459	0.42420	N	0.000718	T	0.30417	0.0764	M	0.66439	2.03	0.80722	D	1	B;B	0.17038	0.019;0.02	B;B	0.14578	0.007;0.011	T	0.07102	-1.0790	10	0.18276	T	0.48	-1.671	11.8708	0.52519	0.0655:0.1232:0.8113:0.0	.	808;1044	B4E205;O95486	.;SC24A_HUMAN	K	1044	ENSP00000381823:E1044K	ENSP00000381823:E1044K	E	+	1	0	SEC24A	134087222	1.000000	0.71417	0.979000	0.43373	0.990000	0.78478	6.966000	0.76073	0.871000	0.35750	0.655000	0.94253	GAG	SEC24A	-	NULL		0.368	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24A	HGNC	protein_coding	OTTHUMT00000371563.1	G			134059323	+1	no_errors	ENST00000398844	ensembl	human	known	70_37	missense	SNP	1.000	A
SERPINA13P	388007	genome.wustl.edu	37	14	95107717	95107717	+	RNA	SNP	C	C	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:95107717C>A	ENST00000469935.1	+	0	322					NR_015340.1		Q6UXR4	SPA13_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13, pseudogene						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)										ATTGTGTGGCCCTGGTTGACC	0.597																																																	0													66.0	48.0	54.0					14																	95107717		2203	4300	6503			388007			AY358238		14q32.13	2014-02-18	2012-10-03	2012-10-03	ENSG00000187483	ENSG00000187483		"""Serine (or cysteine) peptidase inhibitors"""	30909	pseudogene	pseudogene			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"", ""serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"""	SERPINA13		15014966, 16395595, 24172014	Standard	NR_015340		Approved	UNQ6121	uc001ydt.3	Q6UXR4	OTTHUMG00000150191		14.37:g.95107717C>A				RNA	SNP	-	NULL	ENST00000469935.1	37	NULL		14																																																																																			SERPINA13P	-	-		0.597	SERPINA13P-002	KNOWN	basic	processed_transcript	SERPINA13P	HGNC	pseudogene	OTTHUMT00000316754.1	C	NR_015340		95107717	+1	no_errors	ENST00000469935	ensembl	human	known	70_37	rna	SNP	0.000	A
SERPINB11	89778	genome.wustl.edu	37	18	61388146	61388146	+	RNA	SNP	C	C	G	rs376671929		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr18:61388146C>G	ENST00000382749.5	+	0	945				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000489748.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GATGCAAGTTCTTGAGCTGCC	0.353																																					Ovarian(27;496 784 5942 8975 23930)												0													65.0	65.0	65.0					18																	61388146		1875	4122	5997			89778					18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61388146C>G			A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.L59V	ENST00000382749.5	37	c.175		18	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955759	0.53293	.	.	ENSG00000206072	ENST00000544088;ENST00000536691	D;D	0.84370	-1.84;-1.84	5.76	3.88	0.44766	Serpin domain (3);	.	.	.	.	D	0.88062	0.6336	L	0.58428	1.81	0.25125	N	0.990615	D;B;D;D	0.71674	0.996;0.181;0.998;0.997	P;B;P;P	0.59487	0.819;0.054;0.858;0.848	T	0.78666	-0.2115	9	0.48119	T	0.1	.	9.6891	0.40116	0.1406:0.7862:0.0:0.0732	.	59;147;234;234	F5GWT8;Q96P15-2;F5GYW9;Q96P15	.;.;.;SPB11_HUMAN	V	234;59	ENSP00000441497:L234V;ENSP00000441708:L59V	ENSP00000421854:L234V	L	+	1	0	SERPINB11	59539126	0.820000	0.29190	0.440000	0.26846	0.632000	0.37999	1.567000	0.36407	1.445000	0.47624	0.650000	0.86243	CTT	SERPINB11	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.353	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	SERPINB11	HGNC	polymorphic_pseudogene	OTTHUMT00000207392.3	C	NM_080475		61388146	+1	no_errors	ENST00000536691	ensembl	human	known	70_37	missense	SNP	0.989	G
SH3GL1	6455	genome.wustl.edu	37	19	4364097	4364097	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:4364097C>T	ENST00000269886.3	-	5	631	c.453G>A	c.(451-453)ctG>ctA	p.L151L	SH3GL1_ENST00000598564.1_Silent_p.L87L|SH3GL1_ENST00000417295.2_Silent_p.L103L|AC007292.6_ENST00000594444.1_RNA	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	151	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		GGATCTCCTTCAGGTCTTTCT	0.637			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)			Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	0													38.0	33.0	35.0					19																	4364097		2203	4300	6503	SO:0001819	synonymous_variant	6455				CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.453G>A	19.37:g.4364097C>T			B4DRA1|E7EVZ4|M0QZV5|Q99668	Silent	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.L151	ENST00000269886.3	37	c.453	CCDS32874.1	19																																																																																			SH3GL1	-	pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom		0.637	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL1	HGNC	protein_coding	OTTHUMT00000458302.1	C	NM_003025		4364097	-1	no_errors	ENST00000269886	ensembl	human	known	70_37	silent	SNP	1.000	T
SH3TC1	54436	genome.wustl.edu	37	4	8229939	8229939	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:8229939C>T	ENST00000245105.3	+	12	2585	c.2518C>T	c.(2518-2520)Cag>Tag	p.Q840*	SH3TC1_ENST00000539824.1_Nonsense_Mutation_p.Q764*	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	840										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCTTCATGGGCAGAGCCCGGT	0.652																																					NSCLC(145;2298 2623 35616 37297)												0													36.0	34.0	34.0					4																	8229939		2201	4299	6500	SO:0001587	stop_gained	54436			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2518C>T	4.37:g.8229939C>T	ENSP00000245105:p.Gln840*		Q4W5G5	Nonsense_Mutation	SNP	superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.Q840*	ENST00000245105.3	37	c.2518	CCDS3399.1	4	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970879	0.92919	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	.	.	.	4.5	-0.0434	0.13859	.	0.485095	0.21789	N	0.069085	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-7.6588	8.1953	0.31392	0.4184:0.3243:0.2573:0.0	.	.	.	.	X	578;840;764;669	.	ENSP00000245105:Q840X	Q	+	1	0	SH3TC1	8280839	0.953000	0.32496	0.001000	0.08648	0.077000	0.17291	3.069000	0.50026	-0.053000	0.13289	0.462000	0.41574	CAG	SH3TC1	-	NULL		0.652	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	HGNC	protein_coding	OTTHUMT00000206991.2	C	NM_018986		8229939	+1	no_errors	ENST00000245105	ensembl	human	known	70_37	nonsense	SNP	0.000	T
SHROOM4	57477	genome.wustl.edu	37	X	50350549	50350549	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:50350549G>A	ENST00000289292.7	-	6	3876	c.3593C>T	c.(3592-3594)tCa>tTa	p.S1198L	SHROOM4_ENST00000376020.2_Missense_Mutation_p.S1198L|SHROOM4_ENST00000460112.3_Missense_Mutation_p.S1082L			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1198					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GACACTTTGTGAACCCTGTCT	0.537																																																	0													93.0	79.0	83.0					X																	50350549		2203	4300	6503	SO:0001583	missense	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3593C>T	X.37:g.50350549G>A	ENSP00000289292:p.Ser1198Leu		A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S1198L	ENST00000289292.7	37	c.3593	CCDS35277.1	X	.	.	.	.	.	.	.	.	.	.	G	1.522	-0.546621	0.04024	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.28255	1.62;1.62;1.62	4.36	3.5	0.40072	.	1.537360	0.04035	N	0.302097	T	0.24236	0.0587	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.14023	0.01	T	0.17167	-1.0378	10	0.44086	T	0.13	.	7.3357	0.26609	0.1194:0.0:0.8806:0.0	.	1198	Q9ULL8	SHRM4_HUMAN	L	1198;1198;1082	ENSP00000289292:S1198L;ENSP00000365188:S1198L;ENSP00000421450:S1082L	ENSP00000289292:S1198L	S	-	2	0	SHROOM4	50367289	0.393000	0.25237	0.002000	0.10522	0.263000	0.26337	2.307000	0.43682	1.186000	0.42985	0.513000	0.50165	TCA	SHROOM4	-	NULL		0.537	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	HGNC	protein_coding	OTTHUMT00000056564.4	G	NM_020717		50350549	-1	no_errors	ENST00000289292	ensembl	human	known	70_37	missense	SNP	0.002	A
SI	6476	genome.wustl.edu	37	3	164764781	164764781	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:164764781G>A	ENST00000264382.3	-	16	1797	c.1735C>T	c.(1735-1737)Cct>Tct	p.P579S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	579	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CTCTTATTAGGAAAAACTTTT	0.303										HNSCC(35;0.089)																																							0													41.0	41.0	41.0					3																	164764781		2203	4300	6503	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1735C>T	3.37:g.164764781G>A	ENSP00000264382:p.Pro579Ser		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.P579S	ENST00000264382.3	37	c.1735	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	G	5.067	0.198056	0.09652	.	.	ENSG00000090402	ENST00000264382	D	0.93659	-3.26	5.36	4.47	0.54385	Glycoside hydrolase, superfamily (1);	0.123590	0.56097	D	0.000026	D	0.90174	0.6929	L	0.50847	1.595	0.35627	D	0.809942	B	0.17465	0.022	B	0.18871	0.023	D	0.88632	0.3170	10	0.33940	T	0.23	.	12.2156	0.54404	0.0:0.0:0.6902:0.3098	.	579	P14410	SUIS_HUMAN	S	579	ENSP00000264382:P579S	ENSP00000264382:P579S	P	-	1	0	SI	166247475	1.000000	0.71417	0.998000	0.56505	0.381000	0.30169	3.532000	0.53553	1.223000	0.43536	0.467000	0.42956	CCT	SI	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.303	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	G	NM_001041		164764781	-1	no_errors	ENST00000264382	ensembl	human	known	70_37	missense	SNP	0.999	A
SIDT2	51092	genome.wustl.edu	37	11	117063944	117063944	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:117063944C>T	ENST00000324225.4	+	23	2712	c.2181C>T	c.(2179-2181)ctC>ctT	p.L727L	SIDT2_ENST00000532062.1_Silent_p.L19L|SIDT2_ENST00000431081.2_Silent_p.L724L	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	727					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GCAACCTGCTCCTTTACTTCG	0.572																																																	0													338.0	322.0	328.0					11																	117063944		2201	4296	6497	SO:0001819	synonymous_variant	51092			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.2181C>T	11.37:g.117063944C>T			Q8NBY7|Q9Y357	Silent	SNP	NULL	p.L748	ENST00000324225.4	37	c.2244	CCDS31682.1	11																																																																																			SIDT2	-	NULL		0.572	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	HGNC	protein_coding	OTTHUMT00000392836.1	C	NM_015996		117063944	+1	no_errors	ENST00000278951	ensembl	human	known	70_37	silent	SNP	0.820	T
SIGLEC1	6614	genome.wustl.edu	37	20	3682139	3682139	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr20:3682139C>A	ENST00000344754.4	-	6	1377	c.1378G>T	c.(1378-1380)Gat>Tat	p.D460Y	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.D460Y	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	460	Ig-like C2-type 4.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGGCTGTGATCACTGTCCCCG	0.602																																																	0													103.0	78.0	87.0					20																	3682139		2203	4300	6503	SO:0001583	missense	6614			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1378G>T	20.37:g.3682139C>A	ENSP00000341141:p.Asp460Tyr		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D460Y	ENST00000344754.4	37	c.1378	CCDS13060.1	20	.	.	.	.	.	.	.	.	.	.	C	7.903	0.734917	0.15574	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.24908	1.85;1.83	5.39	4.44	0.53790	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.331079	0.21986	N	0.066223	T	0.42314	0.1197	M	0.67953	2.075	0.09310	N	1	D;D	0.58970	0.984;0.98	D;P	0.65323	0.934;0.844	T	0.32107	-0.9919	10	0.11182	T	0.66	.	12.4964	0.55931	0.0:0.9178:0.0:0.0822	.	460;460	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	Y	460	ENSP00000341141:D460Y;ENSP00000202578:D460Y	ENSP00000202578:D460Y	D	-	1	0	SIGLEC1	3630139	0.000000	0.05858	0.008000	0.14137	0.093000	0.18481	0.168000	0.16622	1.400000	0.46741	0.655000	0.94253	GAT	SIGLEC1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.602	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	C	NM_023068		3682139	-1	no_errors	ENST00000344754	ensembl	human	known	70_37	missense	SNP	0.018	A
SLC22A4	6583	genome.wustl.edu	37	5	131671652	131671652	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:131671652C>G	ENST00000200652.3	+	8	1577	c.1403C>G	c.(1402-1404)tCc>tGc	p.S468C	AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	468					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	TCCACGGCCTCCAGAGTGGGC	0.488																																																	0													130.0	127.0	128.0					5																	131671652		2203	4300	6503	SO:0001583	missense	6583			AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.1403C>G	5.37:g.131671652C>G	ENSP00000200652:p.Ser468Cys		O14546	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.S468C	ENST00000200652.3	37	c.1403	CCDS4153.1	5	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104728	0.77096	.	.	ENSG00000197208	ENST00000200652	T	0.75050	-0.9	5.57	5.57	0.84162	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.162822	0.56097	D	0.000028	D	0.83275	0.5219	L	0.49455	1.56	0.47905	D	0.99954	D	0.89917	1.0	D	0.80764	0.994	T	0.80446	-0.1379	10	0.33141	T	0.24	.	19.5585	0.95363	0.0:1.0:0.0:0.0	.	468	Q9H015	S22A4_HUMAN	C	468	ENSP00000200652:S468C	ENSP00000200652:S468C	S	+	2	0	SLC22A4	131699551	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.588000	0.60999	2.633000	0.89246	0.637000	0.83480	TCC	SLC22A4	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.488	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A4	HGNC	protein_coding	OTTHUMT00000132661.1	C	NM_003059		131671652	+1	no_errors	ENST00000200652	ensembl	human	known	70_37	missense	SNP	1.000	G
MRPL12	6182	genome.wustl.edu	37	17	79674001	79674001	+	Silent	SNP	G	G	A	rs149365217		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:79674001G>A	ENST00000333676.3	+	4	556	c.411G>A	c.(409-411)gcG>gcA	p.A137A	SLC25A10_ENST00000571730.1_Silent_p.A137A|SLC25A10_ENST00000541223.1_Silent_p.A137A	NM_002949.3	NP_002940.2	P52815	RM12_HUMAN	mitochondrial ribosomal protein L12	137					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.A137A(1)		breast(1)|lung(2)|urinary_tract(1)	4	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TGACCGAGGCGAAGCCCGTGG	0.567																																																	1	Substitution - coding silent(1)	breast(1)						G		1,4405	2.1+/-5.4	0,1,2202	75.0	62.0	67.0		411	-9.6	0.0	17	dbSNP_134	67	0,8600		0,0,4300	no	coding-synonymous	MRPL12	NM_002949.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		137/199	79674001	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1468			X79865	CCDS11785.1	17q25	2012-11-14			ENSG00000262814	ENSG00000262814		"""Mitochondrial ribosomal proteins / large subunits"""	10378	protein-coding gene	gene with protein product		602375		RPML12		8626705, 9169145	Standard	NM_002949		Approved	MRPL7/L12, MRPL7		P52815	OTTHUMG00000178171	ENST00000333676.3:c.411G>A	17.37:g.79674001G>A			Q969U0|Q9HCA2|Q9UQJ3	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,pfam_Ribosomal_L7/L12_C,superfamily_Mt_carrier_dom,superfamily_Ribosomal_L7/L12_oligo,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.A137	ENST00000333676.3	37	c.411	CCDS11785.1	17																																																																																			SLC25A10	-	pfam_Ribosomal_L7/L12_C,superfamily_Mt_carrier_dom		0.567	MRPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A10	HGNC	protein_coding	OTTHUMT00000440812.1	G	NM_002949		79674001	+1	no_errors	ENST00000541223	ensembl	human	known	70_37	silent	SNP	0.034	A
SLC25A24	29957	genome.wustl.edu	37	1	108681794	108681794	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:108681794C>G	ENST00000565488.1	-	9	1354	c.1135G>C	c.(1135-1137)Gat>Cat	p.D379H	SLC25A24_ENST00000370041.4_Missense_Mutation_p.D360H	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	379					ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TTTACAGAATCTTTTGCAAAA	0.443																																																	0													63.0	70.0	68.0					1																	108681794		2203	4300	6503	SO:0001583	missense	29957			AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"""Solute carriers"", ""EF-hand domain containing"""	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.1135G>C	1.37:g.108681794C>G	ENSP00000457733:p.Asp379His		B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC	p.D379H	ENST00000565488.1	37	c.1135	CCDS41361.1	1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.737212	0.30774	.	.	ENSG00000085491	ENST00000264128;ENST00000370041	T	0.77620	-1.11	5.5	4.59	0.56863	Mitochondrial carrier domain (2);	0.179720	0.64402	D	0.000019	T	0.62319	0.2418	M	0.67569	2.06	0.80722	D	1	B;B	0.19445	0.021;0.036	B;B	0.23419	0.02;0.046	T	0.68047	-0.5512	10	0.66056	D	0.02	-16.1894	6.9174	0.24367	0.0:0.7445:0.0:0.2555	.	379;360	Q6NUK1;Q6NUK1-2	SCMC1_HUMAN;.	H	379;360	ENSP00000359058:D360H	ENSP00000264128:D379H	D	-	1	0	SLC25A24	108483317	1.000000	0.71417	0.630000	0.29268	0.583000	0.36354	4.779000	0.62375	1.558000	0.49541	0.655000	0.94253	GAT	SLC25A24	-	superfamily_Mt_carrier_dom		0.443	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	SLC25A24	HGNC	protein_coding	OTTHUMT00000030280.2	C	NM_013386		108681794	-1	no_errors	ENST00000565488	ensembl	human	known	70_37	missense	SNP	0.998	G
SLC3A2	6520	genome.wustl.edu	37	11	62648619	62648619	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:62648619C>T	ENST00000377890.2	+	4	595	c.427C>T	c.(427-429)Ctg>Ttg	p.L143L	SLC3A2_ENST00000377889.2_Silent_p.L81L|SLC3A2_ENST00000377892.1_Silent_p.L174L|SLC3A2_ENST00000377891.2_Silent_p.L144L|SLC3A2_ENST00000535296.1_Silent_p.L112L|SLC3A2_ENST00000338663.7_Silent_p.L42L|SLC3A2_ENST00000536981.1_5'Flank	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	143					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GAAGAATGGTCTGGTGAAGAT	0.637											OREG0021031	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													27.0	32.0	30.0					11																	62648619		2201	4297	6498	SO:0001819	synonymous_variant	6520				CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.427C>T	11.37:g.62648619C>T		1062	Q13543	Silent	SNP	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	p.L174	ENST00000377890.2	37	c.520	CCDS8039.2	11																																																																																			SLC3A2	-	NULL		0.637	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	SLC3A2	HGNC	protein_coding	OTTHUMT00000157306.1	C	NM_001012661		62648619	+1	no_errors	ENST00000377892	ensembl	human	known	70_37	silent	SNP	0.957	T
SLC4A9	83697	genome.wustl.edu	37	5	139745485	139745485	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:139745485C>T	ENST00000230993.6	+	13	1884	c.1849C>T	c.(1849-1851)Cgt>Tgt	p.R617C	SLC4A9_ENST00000507527.1_Missense_Mutation_p.R617C|SLC4A9_ENST00000506757.2_Missense_Mutation_p.R593C|SLC4A9_ENST00000506545.1_Intron|SLC4A9_ENST00000432095.2_Missense_Mutation_p.R579C	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	617	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCCACCCTCGTGGCCCTGG	0.547																																																	0													174.0	182.0	179.0					5																	139745485		2047	4180	6227	SO:0001583	missense	83697			AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"""Solute carriers"""	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.1849C>T	5.37:g.139745485C>T	ENSP00000230993:p.Arg617Cys		B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.R617C	ENST00000230993.6	37	c.1849	CCDS58973.1	5	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613781	0.46631	.	.	ENSG00000113073	ENST00000230993;ENST00000506757;ENST00000432095;ENST00000507527	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	4.4	4.4	0.53042	Bicarbonate transporter, C-terminal (1);	0.384653	0.25081	N	0.033300	T	0.82107	0.4965	L	0.47716	1.5	0.38615	D	0.950998	D;D;D	0.76494	0.999;0.998;0.998	P;P;P	0.62885	0.908;0.795;0.795	D	0.83545	0.0098	10	0.54805	T	0.06	.	13.5596	0.61782	0.0:0.7279:0.2721:0.0	.	617;579;593	Q96Q91;Q96Q91-2;Q96Q91-3	B3A4_HUMAN;.;.	C	617;593;579;617	ENSP00000230993:R617C;ENSP00000424424:R593C;ENSP00000410056:R579C;ENSP00000427661:R617C	ENSP00000230993:R617C	R	+	1	0	SLC4A9	139725669	1.000000	0.71417	0.995000	0.50966	0.641000	0.38312	2.065000	0.41442	2.735000	0.93741	0.561000	0.74099	CGT	SLC4A9	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.547	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	SLC4A9	HGNC	protein_coding	OTTHUMT00000372823.1	C	NM_031467		139745485	+1	no_errors	ENST00000230993	ensembl	human	known	70_37	missense	SNP	0.970	T
SLCO1A2	6579	genome.wustl.edu	37	12	21467488	21467488	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:21467488C>T	ENST00000307378.6	-	5	1050	c.330G>A	c.(328-330)atG>atA	p.M110I	SLCO1A2_ENST00000458504.1_Intron|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.M108I|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.M110I	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	110					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	CTTACTGGTTCATGAGGAAAT	0.403																																																	0													151.0	137.0	142.0					12																	21467488		2203	4300	6503	SO:0001583	missense	6579				CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.330G>A	12.37:g.21467488C>T	ENSP00000305974:p.Met110Ile		Q9UGP7|Q9UL38	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.M110I	ENST00000307378.6	37	c.330	CCDS8686.1	12	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931444	0.73442	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000390670;ENST00000422327;ENST00000453443	T;T;T;T;T	0.58797	0.31;0.31;0.31;1.11;1.11	5.32	5.32	0.75619	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.415688	0.29486	N	0.012019	T	0.73560	0.3602	M	0.84773	2.715	0.28749	N	0.901528	D;D;P	0.65815	0.992;0.995;0.933	P;P;P	0.61658	0.884;0.892;0.838	T	0.69079	-0.5240	10	0.23891	T	0.37	.	13.3006	0.60324	0.1682:0.8318:0.0:0.0	.	90;108;110	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	I	110;110;108;110;110	ENSP00000305974:M110I;ENSP00000393973:M110I;ENSP00000375088:M108I;ENSP00000416190:M110I;ENSP00000409314:M110I	ENSP00000305974:M110I	M	-	3	0	SLCO1A2	21358755	1.000000	0.71417	0.974000	0.42286	0.950000	0.60333	1.422000	0.34826	2.778000	0.95560	0.655000	0.94253	ATG	SLCO1A2	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.403	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1A2	HGNC	protein_coding	OTTHUMT00000343648.3	C	NM_021094		21467488	-1	no_errors	ENST00000307378	ensembl	human	known	70_37	missense	SNP	0.976	T
SLCO5A1	81796	genome.wustl.edu	37	8	70744929	70744929	+	De_novo_Start_OutOfFrame	SNP	G	G	C	rs373604567		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:70744929G>C	ENST00000260126.4	-	0	686				SLCO5A1_ENST00000524945.1_De_novo_Start_OutOfFrame|RP11-159H10.3_ENST00000501104.2_RNA|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000530307.1_De_novo_Start_OutOfFrame|RP11-159H10.3_ENST00000528800.2_RNA|RP11-159H10.3_ENST00000533300.1_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ATTCAGATTTGATAGCTGATG	0.647											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													19.0	22.0	21.0					8																	70744929		2180	4277	6457			81796			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.-21C>G	8.37:g.70744929G>C		1124	A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	RNA	SNP	-	NULL	ENST00000260126.4	37	NULL	CCDS6205.1	8																																																																																			SLCO5A1	-	-		0.647	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO5A1	HGNC	protein_coding	OTTHUMT00000381990.3	G	NM_030958		70744929	-1	no_errors	ENST00000528658	ensembl	human	known	70_37	rna	SNP	0.000	C
SLIT2	9353	genome.wustl.edu	37	4	20255564	20255564	+	Silent	SNP	C	C	T	rs200103892		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:20255564C>T	ENST00000504154.1	+	1	378	c.126C>T	c.(124-126)caC>caT	p.H42H	SLIT2_ENST00000503837.1_Silent_p.H42H|SLIT2_ENST00000273739.5_Silent_p.H42H|SLIT2_ENST00000503823.1_Silent_p.H42H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	42	LRRNT.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGGACTGTCACGGGCTGGCGC	0.662																																																	0													94.0	79.0	84.0					4																	20255564		2203	4300	6503	SO:0001819	synonymous_variant	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.126C>T	4.37:g.20255564C>T			B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.H42	ENST00000504154.1	37	c.126	CCDS3426.1	4																																																																																			SLIT2	-	pfam_LRR-contain_N,smart_LRR-contain_N		0.662	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	C			20255564	+1	no_errors	ENST00000504154	ensembl	human	known	70_37	silent	SNP	1.000	T
SLIT3	6586	genome.wustl.edu	37	5	168199788	168199788	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:168199788G>C	ENST00000519560.1	-	14	1876	c.1457C>G	c.(1456-1458)tCa>tGa	p.S486*	SLIT3_ENST00000332966.8_Nonsense_Mutation_p.S486*|SLIT3_ENST00000404867.3_Nonsense_Mutation_p.S486*	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	486	LRRCT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGATTACCTGAGCAGCGGAA	0.597																																					Ovarian(29;311 847 10864 17279 24903)												0													46.0	45.0	45.0					5																	168199788		2203	4300	6503	SO:0001587	stop_gained	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1457C>G	5.37:g.168199788G>C	ENSP00000430333:p.Ser486*		A6H8U9|J3KNP3|O95804|Q9UFH5	Nonsense_Mutation	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.S486*	ENST00000519560.1	37	c.1457	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	G	39	7.568636	0.98365	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	.	.	.	5.49	5.49	0.81192	.	0.124366	0.52532	D	0.000073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.3785	0.94521	0.0:0.0:1.0:0.0	.	.	.	.	X	486	.	ENSP00000332164:S486X	S	-	2	0	SLIT3	168132366	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.860000	0.99555	2.566000	0.86566	0.561000	0.74099	TCA	SLIT3	-	pfam_Cys-rich_flank_reg_C,smart_Cys-rich_flank_reg_C		0.597	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	G	NM_003062		168199788	-1	no_errors	ENST00000519560	ensembl	human	known	70_37	nonsense	SNP	1.000	C
SNAP25	6616	genome.wustl.edu	37	20	10258389	10258389	+	Intron	SNP	T	T	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr20:10258389T>C	ENST00000254976.2	+	3	325				SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000304886.2_Intron	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa						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)	GAAGTGACAGTATTTTAAGAT	0.403																																																	0													94.0	83.0	87.0					20																	10258389		2203	4300	6503	SO:0001627	intron_variant	6616				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.114+15T>C	20.37:g.10258389T>C			B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	RNA	SNP	-	NULL	ENST00000254976.2	37	NULL	CCDS13110.1	20																																																																																			SNAP25	-	-		0.403	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SNAP25	HGNC	protein_coding	OTTHUMT00000077976.3	T	NM_130811		10258389	+1	no_errors	ENST00000492814	ensembl	human	known	70_37	rna	SNP	0.002	C
SNIP1	79753	genome.wustl.edu	37	1	38019744	38019744	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:38019744C>T	ENST00000296215.6	-	1	159	c.87G>A	c.(85-87)gtG>gtA	p.V29V	SNIP1_ENST00000468040.1_Intron|DNALI1_ENST00000541606.1_5'Flank|DNALI1_ENST00000296218.7_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	29					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GCTCCTGCTTCACCACCACCC	0.701																																																	0													33.0	32.0	32.0					1																	38019744		2201	4298	6499	SO:0001819	synonymous_variant	79753				CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.87G>A	1.37:g.38019744C>T			Q96SP9|Q9H9T7	Silent	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.V29	ENST00000296215.6	37	c.87	CCDS419.1	1																																																																																			SNIP1	-	NULL		0.701	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNIP1	HGNC	protein_coding	OTTHUMT00000012169.2	C	NM_024700		38019744	-1	no_errors	ENST00000296215	ensembl	human	known	70_37	silent	SNP	1.000	T
SNTB2	6645	genome.wustl.edu	37	16	69318092	69318092	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:69318092G>A	ENST00000336278.4	+	5	1328	c.1290G>A	c.(1288-1290)agG>agA	p.R430R		NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	430	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|microtubule (GO:0005874)|protein complex (GO:0043234)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		CCTGGACCAGGATACTTGTTC	0.463																																					NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738)												0													119.0	109.0	112.0					16																	69318092		2198	4300	6498	SO:0001819	synonymous_variant	6645			U40572	CCDS10873.1	16q22.1	2008-05-14	2002-08-29		ENSG00000168807	ENSG00000168807			11169	protein-coding gene	gene with protein product		600027	"""syntrophin, beta 2 (dystrophin-associated protein A1, 59kD, basic component 2)"""	SNT2B2, SNTL, D16S2531E		8576247, 8183929	Standard	NM_006750		Approved	EST25263, SNT3	uc002ewu.3	Q13425	OTTHUMG00000137567	ENST00000336278.4:c.1290G>A	16.37:g.69318092G>A			Q9BY09	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.R430	ENST00000336278.4	37	c.1290	CCDS10873.1	16																																																																																			SNTB2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.463	SNTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB2	HGNC	protein_coding	OTTHUMT00000268945.1	G			69318092	+1	no_errors	ENST00000336278	ensembl	human	known	70_37	silent	SNP	0.993	A
SNX6	58533	genome.wustl.edu	37	14	35037129	35037129	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:35037129G>A	ENST00000362031.4	-	12	1078	c.1048C>T	c.(1048-1050)Cta>Tta	p.L350L	SNX6_ENST00000355110.5_Silent_p.L226L|SNX6_ENST00000396534.3_Silent_p.L222L|SNX6_ENST00000396526.3_Silent_p.L222L	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	338					intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|intracellular (GO:0005622)|nucleus (GO:0005634)	phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		TCGGCCTGTAGAACATCTTTA	0.343																																																	0													80.0	80.0	80.0					14																	35037129		2202	4300	6502	SO:0001819	synonymous_variant	58533			AF121856	CCDS9648.1, CCDS41942.1	14q13	2010-08-05			ENSG00000129515	ENSG00000129515		"""Sorting nexins"""	14970	protein-coding gene	gene with protein product		606098				11279102	Standard	XM_006720224		Approved		uc001wsf.1	Q9UNH7	OTTHUMG00000140213	ENST00000362031.4:c.1048C>T	14.37:g.35037129G>A			C0H5W9|Q9Y449	Silent	SNP	pfam_Phox,pfam_Vps5_C,pfam_BAR_dom,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	p.L350	ENST00000362031.4	37	c.1048	CCDS41942.1	14																																																																																			SNX6	-	pfam_Vps5_C,pfam_BAR_dom,pirsf_Snx5_Snx6		0.343	SNX6-002	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	SNX6	HGNC	protein_coding	OTTHUMT00000276642.3	G			35037129	-1	no_errors	ENST00000362031	ensembl	human	known	70_37	silent	SNP	1.000	A
SPATA31D1	389763	genome.wustl.edu	37	9	84609460	84609460	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:84609460C>G	ENST00000344803.2	+	4	4122	c.4075C>G	c.(4075-4077)Cag>Gag	p.Q1359E		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1359					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GACCTCTTTGCAGTGGTTTAA	0.438																																																	0													27.0	24.0	25.0					9																	84609460		1847	4076	5923	SO:0001583	missense	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4075C>G	9.37:g.84609460C>G	ENSP00000341988:p.Gln1359Glu			Missense_Mutation	SNP	NULL	p.Q1359E	ENST00000344803.2	37	c.4075	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	C	8.537	0.872268	0.17322	.	.	ENSG00000214929	ENST00000344803	T	0.14893	2.47	3.23	2.31	0.28768	.	.	.	.	.	T	0.18002	0.0432	L	0.29908	0.895	0.09310	N	1	D	0.64830	0.994	P	0.52554	0.702	T	0.09729	-1.0661	9	0.38643	T	0.18	-0.1371	7.8032	0.29187	0.2481:0.7519:0.0:0.0	.	1359	Q6ZQQ2	F75D1_HUMAN	E	1359	ENSP00000341988:Q1359E	ENSP00000341988:Q1359E	Q	+	1	0	FAM75D1	83799280	0.002000	0.14202	0.005000	0.12908	0.002000	0.02628	0.777000	0.26718	0.909000	0.36697	0.655000	0.94253	CAG	SPATA31D1	-	NULL		0.438	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	C	NM_001001670		84609460	+1	no_errors	ENST00000344803	ensembl	human	known	70_37	missense	SNP	0.006	G
SPATA6	54558	genome.wustl.edu	37	1	48764497	48764497	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:48764497G>A	ENST00000371847.3	-	13	1519	c.1355C>T	c.(1354-1356)tCt>tTt	p.S452F	SPATA6_ENST00000371843.3_Missense_Mutation_p.S436F|SPATA6_ENST00000396199.3_Missense_Mutation_p.S380F	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	452					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TCCCTTATAAGAGGCTGCCCT	0.438																																																	0													145.0	147.0	146.0					1																	48764497		2203	4300	6503	SO:0001583	missense	54558			AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.1355C>T	1.37:g.48764497G>A	ENSP00000360913:p.Ser452Phe		Q5T3N7|Q8WUE6	Missense_Mutation	SNP	NULL	p.S452F	ENST00000371847.3	37	c.1355	CCDS551.1	1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397428	0.42512	.	.	ENSG00000132122	ENST00000371847;ENST00000371843;ENST00000396199	T;T;T	0.12255	2.7;2.71;2.7	4.82	3.89	0.44902	.	0.653985	0.14845	N	0.295018	T	0.07683	0.0193	N	0.08118	0	0.26835	N	0.96851	P;P;P	0.43094	0.755;0.799;0.681	B;B;B	0.38755	0.179;0.281;0.281	T	0.13980	-1.0489	10	0.56958	D	0.05	.	10.8396	0.46706	0.0:0.1907:0.8093:0.0	.	380;436;452	B4DX17;Q9NWH7-2;Q9NWH7	.;.;SPAT6_HUMAN	F	452;436;380	ENSP00000360913:S452F;ENSP00000360909:S436F;ENSP00000379502:S380F	ENSP00000360909:S436F	S	-	2	0	SPATA6	48537084	0.891000	0.30450	0.804000	0.32291	0.982000	0.71751	0.907000	0.28531	1.214000	0.43395	0.563000	0.77884	TCT	SPATA6	-	NULL		0.438	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA6	HGNC	protein_coding	OTTHUMT00000021347.1	G	NM_019073		48764497	-1	no_errors	ENST00000371847	ensembl	human	known	70_37	missense	SNP	0.722	A
SPG11	80208	genome.wustl.edu	37	15	44944412	44944412	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr15:44944412G>A	ENST00000261866.7	-	5	938	c.922C>T	c.(922-924)Caa>Taa	p.Q308*	SPG11_ENST00000558319.1_Nonsense_Mutation_p.Q308*|SPG11_ENST00000427534.2_Nonsense_Mutation_p.Q308*|SPG11_ENST00000559193.1_Nonsense_Mutation_p.Q308*|SPG11_ENST00000535302.2_Nonsense_Mutation_p.Q308*	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	308					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TTAGGTCCTTGAATAGGAAGA	0.378																																																	0													117.0	105.0	110.0					15																	44944412		2198	4298	6496	SO:0001587	stop_gained	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.922C>T	15.37:g.44944412G>A	ENSP00000261866:p.Gln308*		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Nonsense_Mutation	SNP	NULL	p.Q308*	ENST00000261866.7	37	c.922	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350759	0.82132	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	.	.	.	4.87	0.123	0.14709	.	0.575264	0.16146	N	0.227466	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8587	0.41101	0.0:0.6655:0.2165:0.118	.	.	.	.	X	308	.	ENSP00000261866:Q308X	Q	-	1	0	SPG11	42731704	0.999000	0.42202	1.000000	0.80357	0.739000	0.42172	0.799000	0.27028	0.450000	0.26774	0.313000	0.20887	CAA	SPG11	-	NULL		0.378	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	G			44944412	-1	no_errors	ENST00000261866	ensembl	human	known	70_37	nonsense	SNP	0.991	A
SPNS2	124976	genome.wustl.edu	37	17	4434019	4434019	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:4434019C>T	ENST00000329078.3	+	4	876	c.666C>T	c.(664-666)ttC>ttT	p.F222F		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	222					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						GCGACCTCTTCACCAAGAACA	0.627																																																	0													67.0	60.0	62.0					17																	4434019		1568	3582	5150	SO:0001819	synonymous_variant	124976			BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.666C>T	17.37:g.4434019C>T			B9A1T3	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F222	ENST00000329078.3	37	c.666	CCDS42237.1	17																																																																																			SPNS2	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.627	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS2	HGNC	protein_coding	OTTHUMT00000438802.1	C			4434019	+1	no_errors	ENST00000329078	ensembl	human	known	70_37	silent	SNP	1.000	T
SPTBN5	51332	genome.wustl.edu	37	15	42147812	42147812	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr15:42147812G>A	ENST00000320955.6	-	54	9380	c.9153C>T	c.(9151-9153)ttC>ttT	p.F3051F		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3051					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCGTGGGCTGAACGCTTCCA	0.642																																																	0													19.0	23.0	22.0					15																	42147812		2033	4187	6220	SO:0001819	synonymous_variant	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.9153C>T	15.37:g.42147812G>A				Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.F3051	ENST00000320955.6	37	c.9153		15																																																																																			SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.642	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	G	NM_016642		42147812	-1	no_errors	ENST00000320955	ensembl	human	known	70_37	silent	SNP	0.007	A
SRCAP	10847	genome.wustl.edu	37	16	30749064	30749064	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:30749064C>T	ENST00000262518.4	+	34	8088	c.7703C>T	c.(7702-7704)tCt>tTt	p.S2568F	SRCAP_ENST00000395059.2_Missense_Mutation_p.S2506F|SRCAP_ENST00000344771.4_Missense_Mutation_p.S2410F|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2568	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GAGCTGGCTTCTGTGGCCAGT	0.552																																																	0													65.0	67.0	67.0					16																	30749064		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7703C>T	16.37:g.30749064C>T	ENSP00000262518:p.Ser2568Phe		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.S2568F	ENST00000262518.4	37	c.7703	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	0.260	-1.000099	0.02128	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.90955	-2.75;-2.76;-2.76	4.8	0.125	0.14718	.	0.854646	0.09860	N	0.746320	T	0.76723	0.4027	N	0.08118	0	0.09310	N	0.999999	B;B	0.22683	0.073;0.012	B;B	0.24155	0.051;0.016	T	0.65961	-0.6041	10	0.52906	T	0.07	-0.9926	1.4204	0.02311	0.172:0.4209:0.2184:0.1887	.	2506;2568	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	F	2568;2506;2410	ENSP00000262518:S2568F;ENSP00000378499:S2506F;ENSP00000343042:S2410F	ENSP00000262518:S2568F	S	+	2	0	SRCAP	30656565	0.288000	0.24324	0.382000	0.26119	0.071000	0.16799	0.385000	0.20685	0.483000	0.27608	-0.499000	0.04595	TCT	SRCAP	-	NULL		0.552	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	C	NM_006662		30749064	+1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	0.079	T
SSH2	85464	genome.wustl.edu	37	17	27958150	27958150	+	Silent	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:27958150G>C	ENST00000269033.3	-	15	4132	c.3981C>G	c.(3979-3981)ctC>ctG	p.L1327L	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.L1354L	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1327					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGTTGTTGTGAGTTGTTCTA	0.527																																																	0													56.0	50.0	52.0					17																	27958150		2203	4300	6503	SO:0001819	synonymous_variant	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.3981C>G	17.37:g.27958150G>C			Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.L1327	ENST00000269033.3	37	c.3981	CCDS11253.1	17																																																																																			SSH2	-	NULL		0.527	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1	G	NM_033389		27958150	-1	no_errors	ENST00000269033	ensembl	human	known	70_37	silent	SNP	1.000	C
SSH2	85464	genome.wustl.edu	37	17	28011590	28011590	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:28011590G>A	ENST00000269033.3	-	5	540	c.389C>T	c.(388-390)tCt>tTt	p.S130F	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.S157F|SSH2_ENST00000324677.7_5'UTR	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	130					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTGTCATTAGAGGAGAAATC	0.368																																																	0													217.0	181.0	193.0					17																	28011590		2203	4300	6503	SO:0001583	missense	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.389C>T	17.37:g.28011590G>A	ENSP00000269033:p.Ser130Phe		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.S130F	ENST00000269033.3	37	c.389	CCDS11253.1	17	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772465	0.69992	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848;ENST00000324677	T;T	0.45668	0.89;0.89	5.23	5.23	0.72850	.	0.413619	0.27375	N	0.019660	T	0.58736	0.2143	L	0.53249	1.67	0.46542	D	0.999092	D;D;D;B;D	0.64830	0.993;0.987;0.987;0.254;0.994	D;P;P;B;P	0.69307	0.963;0.838;0.838;0.188;0.876	T	0.61133	-0.7124	10	0.87932	D	0	-9.7334	14.4286	0.67233	0.0:0.1472:0.8528:0.0	.	157;130;137;130;130	F5H527;Q76I76-3;G5E957;Q76I76-4;Q76I76	.;.;.;.;SSH2_HUMAN	F	130;157;130;137	ENSP00000269033:S130F;ENSP00000444743:S157F	ENSP00000269033:S130F	S	-	2	0	SSH2	25035716	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.668000	0.54554	2.431000	0.82371	0.557000	0.71058	TCT	SSH2	-	NULL		0.368	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1	G	NM_033389		28011590	-1	no_errors	ENST00000269033	ensembl	human	known	70_37	missense	SNP	1.000	A
SSH2	85464	genome.wustl.edu	37	17	28011595	28011595	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:28011595G>A	ENST00000269033.3	-	5	535	c.384C>T	c.(382-384)ttC>ttT	p.F128F	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.F155F|SSH2_ENST00000324677.7_5'UTR	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	128					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.F128L(1)	SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATTAGAGGAGAAATCCATTC	0.368																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											220.0	183.0	195.0					17																	28011595		2203	4300	6503	SO:0001819	synonymous_variant	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.384C>T	17.37:g.28011595G>A			Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.F128	ENST00000269033.3	37	c.384	CCDS11253.1	17																																																																																			SSH2	-	NULL		0.368	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1	G	NM_033389		28011595	-1	no_errors	ENST00000269033	ensembl	human	known	70_37	silent	SNP	1.000	A
STK11IP	114790	genome.wustl.edu	37	2	220473457	220473457	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:220473457G>A	ENST00000456909.1	+	15	1846	c.1756G>A	c.(1756-1758)Gag>Aag	p.E586K	STK11IP_ENST00000295641.10_Missense_Mutation_p.E597K			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	597	Glu-rich.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAGAGTCTGGAGGCAGCTGA	0.632																																																	0													24.0	28.0	27.0					2																	220473457		1986	4160	6146	SO:0001583	missense	114790			AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1756G>A	2.37:g.220473457G>A	ENSP00000389383:p.Glu586Lys		Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	NULL	p.E586K	ENST00000456909.1	37	c.1756		2	.	.	.	.	.	.	.	.	.	.	G	5.554	0.287170	0.10513	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.04809	3.56;3.55	4.39	2.49	0.30216	.	0.780931	0.12016	N	0.507448	T	0.05181	0.0138	L	0.54323	1.7	0.20074	N	0.999936	B;P;B	0.36249	0.386;0.545;0.218	B;B;B	0.32677	0.087;0.15;0.085	T	0.29458	-1.0011	10	0.21014	T	0.42	-4.8371	8.7054	0.34351	0.0:0.1618:0.6725:0.1656	.	565;597;597	B4DUE4;Q8N1F8-2;Q8N1F8	.;.;S11IP_HUMAN	K	586;565;597	ENSP00000389383:E586K;ENSP00000295641:E597K	ENSP00000295641:E597K	E	+	1	0	STK11IP	220181701	1.000000	0.71417	0.961000	0.40146	0.515000	0.34225	0.986000	0.29590	2.282000	0.76494	0.561000	0.74099	GAG	STK11IP	-	NULL		0.632	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	STK11IP	HGNC	protein_coding	OTTHUMT00000131432.1	G	NM_052902		220473457	+1	no_errors	ENST00000456909	ensembl	human	novel	70_37	missense	SNP	0.648	A
STK4	6789	genome.wustl.edu	37	20	43629817	43629817	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr20:43629817G>A	ENST00000372806.3	+	9	1065	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	STK4_ENST00000372801.1_Missense_Mutation_p.E324K|STK4_ENST00000499879.2_Missense_Mutation_p.E269K|STK4_ENST00000396731.4_Missense_Mutation_p.E324K	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	324					apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				GGAAGAGGATGAAATGGATTC	0.418																																					GBM(187;1039 2137 11798 21916 33213)												0													90.0	79.0	83.0					20																	43629817		2203	4300	6503	SO:0001583	missense	6789				CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"""mammalian sterile 20-like 1"", ""yeast Ste20-like"", ""kinase responsive to stress 2"""	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.970G>A	20.37:g.43629817G>A	ENSP00000361892:p.Glu324Lys		B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E324K	ENST00000372806.3	37	c.970	CCDS13341.1	20	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753814	0.89753	.	.	ENSG00000101109	ENST00000372806;ENST00000396731;ENST00000372801;ENST00000499879	T;T;T;T	0.72615	-0.65;-0.67;-0.67;0.33	5.99	5.04	0.67666	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72269	0.3439	M	0.74881	2.28	0.58432	D	0.99999	B;P;B	0.36048	0.382;0.534;0.167	B;B;B	0.38985	0.287;0.211;0.15	T	0.72408	-0.4303	10	0.39692	T	0.17	.	14.6556	0.68831	0.0689:0.0:0.9311:0.0	.	269;324;324	F5H5B4;Q13043-2;Q13043	.;.;STK4_HUMAN	K	324;324;324;269	ENSP00000361892:E324K;ENSP00000379957:E324K;ENSP00000361887:E324K;ENSP00000443514:E269K	ENSP00000361887:E324K	E	+	1	0	STK4	43063231	1.000000	0.71417	0.996000	0.52242	0.848000	0.48234	7.651000	0.83577	2.840000	0.97914	0.655000	0.94253	GAA	STK4	-	superfamily_Kinase-like_dom		0.418	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	STK4	HGNC	protein_coding	OTTHUMT00000080401.4	G	NM_006282		43629817	+1	no_errors	ENST00000372806	ensembl	human	known	70_37	missense	SNP	1.000	A
STMN4	81551	genome.wustl.edu	37	8	27099947	27099947	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:27099947C>T	ENST00000265770.7	-	3	212	c.76G>A	c.(76-78)Gat>Aat	p.D26N	STMN4_ENST00000519614.1_Missense_Mutation_p.D26N|STMN4_ENST00000519997.1_Missense_Mutation_p.D17N|STMN4_ENST00000522908.1_Missense_Mutation_p.D26N|STMN4_ENST00000523048.1_Missense_Mutation_p.D26N|STMN4_ENST00000350889.4_Missense_Mutation_p.D26N			Q9H169	STMN4_HUMAN	stathmin-like 4	26					regulation of microtubule polymerization or depolymerization (GO:0031110)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)	Lomustine(DB01206)	TTCAGGGGATCGGCCAGGAAG	0.577																																																	0													96.0	92.0	93.0					8																	27099947		2203	4300	6503	SO:0001583	missense	81551				CCDS6055.1, CCDS64851.1, CCDS64852.1, CCDS64854.1	8p21.2	2006-12-09			ENSG00000015592	ENSG00000015592			16078	protein-coding gene	gene with protein product						11230166	Standard	NM_001283054		Approved	RB3	uc003xfj.3	Q9H169	OTTHUMG00000099461	ENST00000265770.7:c.76G>A	8.37:g.27099947C>T	ENSP00000265770:p.Asp26Asn		B7Z2Z7|B7Z4I9|D3DSS8|D3DSS9|G5EA16|Q2TAB9	Missense_Mutation	SNP	pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam	p.D26N	ENST00000265770.7	37	c.76		8	.	.	.	.	.	.	.	.	.	.	C	15.74	2.924023	0.52653	.	.	ENSG00000015592	ENST00000350889;ENST00000519997;ENST00000265770;ENST00000523048;ENST00000519614;ENST00000522908	.	.	.	5.03	5.03	0.67393	.	0.201386	0.52532	D	0.000080	T	0.29028	0.0721	N	0.19112	0.55	0.34999	D	0.755795	B;B;B;P;B;B	0.39250	0.266;0.003;0.025;0.665;0.002;0.025	B;B;B;B;B;B	0.20577	0.011;0.001;0.004;0.03;0.001;0.004	T	0.48822	-0.9001	9	0.51188	T	0.08	-33.2599	16.242	0.82418	0.0:1.0:0.0:0.0	.	26;17;26;26;26;26	E7EVN3;B7Z2Z7;G5EA16;E5RIR6;Q9H169;Q9H169-2	.;.;.;.;STMN4_HUMAN;.	N	26;17;26;26;26;26	.	ENSP00000265770:D26N	D	-	1	0	STMN4	27155864	0.954000	0.32549	0.165000	0.22776	0.899000	0.52679	2.432000	0.44784	2.777000	0.95525	0.655000	0.94253	GAT	STMN4	-	pirsf_Stathmin_fam		0.577	STMN4-006	KNOWN	basic|appris_principal	protein_coding	STMN4	HGNC	protein_coding	OTTHUMT00000375941.1	C	NM_030795		27099947	-1	no_errors	ENST00000350889	ensembl	human	known	70_37	missense	SNP	0.596	T
SYNE1	23345	genome.wustl.edu	37	6	152690138	152690138	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:152690138G>A	ENST00000367255.5	-	61	10377	c.9776C>T	c.(9775-9777)tCt>tTt	p.S3259F	SYNE1_ENST00000265368.4_Missense_Mutation_p.S3259F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S3266F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S3298F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S3266F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3259					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAGATACTGAGAAGACAGCTG	0.502										HNSCC(10;0.0054)																																							0													107.0	95.0	99.0					6																	152690138		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9776C>T	6.37:g.152690138G>A	ENSP00000356224:p.Ser3259Phe		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S3259F	ENST00000367255.5	37	c.9776	CCDS5236.2	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.845767|4.845767	0.91197|0.91197	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000454018|ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.|T;T;T;T;T	.|0.52526	.|1.25;0.66;1.25;0.66;0.66	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.313728	.|0.27871	.|N	.|0.017502	T|T	0.48804|0.48804	0.1520|0.1520	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.59357	.|0.978;0.979;0.978;0.985	.|D;P;D;P	.|0.63703	.|0.917;0.908;0.917;0.864	T|T	0.50800|0.50800	-0.8785|-0.8785	5|10	.|0.56958	.|D	.|0.05	.|.	20.3363|20.3363	0.98740|0.98740	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3259;376;3259;3266	.|Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4	.|SYNE1_HUMAN;.;.;.	F|F	376|3259;3266;3259;3266;3298	.|ENSP00000356224:S3259F;ENSP00000396024:S3266F;ENSP00000265368:S3259F;ENSP00000390975:S3266F;ENSP00000341887:S3298F	.|ENSP00000265368:S3259F	L|S	-|-	1|2	0|0	SYNE1|SYNE1	152731831|152731831	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	9.476000|9.476000	0.97823|0.97823	2.814000|2.814000	0.96858|0.96858	0.563000|0.563000	0.77884|0.77884	CTC|TCT	SYNE1	-	pfam_Spectrin_repeat,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.502	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	G	NM_182961		152690138	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	A
SYNE2	23224	genome.wustl.edu	37	14	64556365	64556365	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:64556365C>T	ENST00000344113.4	+	59	11956	c.11744C>T	c.(11743-11745)tCa>tTa	p.S3915L	SYNE2_ENST00000555002.1_Missense_Mutation_p.S549L|SYNE2_ENST00000554584.1_Missense_Mutation_p.S3948L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.S3915L|SYNE2_ENST00000394768.2_Missense_Mutation_p.S300L|SYNE2_ENST00000357395.3_Missense_Mutation_p.S300L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3915					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATCCTATTATCAAAAGAAATA	0.284																																																	0													33.0	35.0	34.0					14																	64556365		2195	4265	6460	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.11744C>T	14.37:g.64556365C>T	ENSP00000341781:p.Ser3915Leu		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S3915L	ENST00000344113.4	37	c.11744	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405279	0.62288	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.79247	-0.8;2.56;-0.79;-1.25;2.53;2.56	5.36	5.36	0.76844	.	0.000000	0.44483	D	0.000459	D	0.87924	0.6300	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.983;1.0	D;D;D;D	0.87578	0.996;0.994;0.933;0.998	D	0.88947	0.3384	10	0.87932	D	0	.	18.6796	0.91541	0.0:1.0:0.0:0.0	.	300;3949;3915;3915	Q8WXH0-7;D4YW74;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	L	3915;300;3915;3948;3948;549;300	ENSP00000350719:S3915L;ENSP00000349969:S300L;ENSP00000341781:S3915L;ENSP00000452570:S3948L;ENSP00000450831:S549L;ENSP00000378249:S300L	ENSP00000261678:S3948L	S	+	2	0	SYNE2	63626118	1.000000	0.71417	0.996000	0.52242	0.901000	0.52897	5.579000	0.67457	2.520000	0.84964	0.460000	0.39030	TCA	SYNE2	-	NULL		0.284	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	C	NM_182914		64556365	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.998	T
SYNE2	23224	genome.wustl.edu	37	14	64599082	64599082	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:64599082G>C	ENST00000344113.4	+	77	14652	c.14440G>C	c.(14440-14442)Gaa>Caa	p.E4814Q	SYNE2_ENST00000555002.1_Missense_Mutation_p.E1448Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4731Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4814Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.E1199Q|SYNE2_ENST00000357395.3_Missense_Mutation_p.E1199Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4814					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTTTGGGCAGAACAAGTAAC	0.383																																																	0													85.0	89.0	88.0					14																	64599082		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14440G>C	14.37:g.64599082G>C	ENSP00000341781:p.Glu4814Gln		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E4814Q	ENST00000344113.4	37	c.14440	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	13.58	2.278459	0.40294	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.59906	0.46;3.76;0.46;0.23;3.81;3.76	5.42	5.42	0.78866	.	0.118800	0.37348	N	0.002127	T	0.71779	0.3380	M	0.68952	2.095	0.80722	D	1	D;D;D	0.64830	0.973;0.984;0.994	P;P;P	0.60117	0.848;0.737;0.869	T	0.73795	-0.3870	10	0.62326	D	0.03	.	16.7248	0.85418	0.0:0.0:1.0:0.0	.	1199;4814;4814	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	Q	4814;1199;4814;4731;4731;1448;1199	ENSP00000350719:E4814Q;ENSP00000349969:E1199Q;ENSP00000341781:E4814Q;ENSP00000452570:E4731Q;ENSP00000450831:E1448Q;ENSP00000378249:E1199Q	ENSP00000261678:E4731Q	E	+	1	0	SYNE2	63668835	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.663000	0.68038	2.683000	0.91414	0.655000	0.94253	GAA	SYNE2	-	NULL		0.383	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64599082	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	C
SYNPO	11346	genome.wustl.edu	37	5	150029188	150029188	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:150029188G>A	ENST00000394243.1	+	3	2457	c.2083G>A	c.(2083-2085)Gag>Aag	p.E695K	SYNPO_ENST00000519664.1_Missense_Mutation_p.E451K|SYNPO_ENST00000522122.1_Missense_Mutation_p.E695K|SYNPO_ENST00000307662.4_Missense_Mutation_p.E451K	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	695					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGGTACCAGAGTGGGCCTC	0.677																																																	0													26.0	28.0	28.0					5																	150029188		2203	4300	6503	SO:0001583	missense	11346			AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.2083G>A	5.37:g.150029188G>A	ENSP00000377789:p.Glu695Lys		A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	NULL	p.E695K	ENST00000394243.1	37	c.2083	CCDS54937.1	5	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307610	0.60305	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.16	5.16	0.70880	.	0.000000	0.52532	D	0.000062	D	0.84151	0.5409	L	0.40543	1.245	0.54753	D	0.999987	D;D	0.89917	1.0;0.999	D;D	0.69479	0.964;0.957	T	0.79465	-0.1792	10	0.13108	T	0.6	-20.2747	18.2431	0.89974	0.0:0.0:1.0:0.0	.	451;695	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	K	695;695;451;451	ENSP00000377789:E695K;ENSP00000428378:E695K;ENSP00000302139:E451K;ENSP00000429268:E451K	ENSP00000302139:E451K	E	+	1	0	SYNPO	150009381	1.000000	0.71417	0.965000	0.40720	0.336000	0.28762	9.269000	0.95684	2.399000	0.81585	0.462000	0.41574	GAG	SYNPO	-	NULL		0.677	SYNPO-002	KNOWN	basic|CCDS	protein_coding	SYNPO	HGNC	protein_coding	OTTHUMT00000252371.1	G	NM_007286		150029188	+1	no_errors	ENST00000394243	ensembl	human	known	70_37	missense	SNP	1.000	A
SYNPR	132204	genome.wustl.edu	37	3	63601102	63601102	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:63601102C>G	ENST00000295894.5	+	5	1112	c.743C>G	c.(742-744)tCa>tGa	p.S248*	SYNPR_ENST00000478300.1_Nonsense_Mutation_p.S268*|SYNPR_ENST00000479198.1_3'UTR|SYNPR_ENST00000460711.1_Nonsense_Mutation_p.S259*|SYNPR_ENST00000465156.1_Nonsense_Mutation_p.S184*	NM_144642.4	NP_653243.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	248						cell junction (GO:0030054)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)	transporter activity (GO:0005215)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		GGGCCAACCTCAGATGAGTTT	0.493																																					NSCLC(29;1052 1116 20025 32519)												0													52.0	56.0	55.0					3																	63601102		1938	4132	6070	SO:0001587	stop_gained	132204			AF411860	CCDS46859.1, CCDS46860.1	3p14.3	2011-07-28			ENSG00000163630	ENSG00000163630			16507	protein-coding gene	gene with protein product						8034131, 12974474	Standard	NM_144642		Approved	MGC26651, SPO	uc003dlp.3	Q8TBG9	OTTHUMG00000158699	ENST00000295894.5:c.743C>G	3.37:g.63601102C>G	ENSP00000295894:p.Ser248*		B2R675|G5E9W4	Nonsense_Mutation	SNP	pfam_MARVEL-like_dom,prints_Synaptophysin/porin	p.S268*	ENST00000295894.5	37	c.803	CCDS46860.1	3	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671938	0.67928	.	.	ENSG00000163630	ENST00000478300;ENST00000295894;ENST00000460711;ENST00000465156	.	.	.	5.5	4.57	0.56435	.	1.034700	0.07604	N	0.924144	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-9.7075	8.3486	0.32288	0.0:0.75:0.161:0.089	.	.	.	.	X	268;248;259;184	.	ENSP00000295894:S248X	S	+	2	0	SYNPR	63576142	0.756000	0.28383	0.289000	0.24876	0.990000	0.78478	2.423000	0.44705	2.580000	0.87095	0.467000	0.42956	TCA	SYNPR	-	NULL		0.493	SYNPR-004	KNOWN	basic|CCDS	protein_coding	SYNPR	HGNC	protein_coding	OTTHUMT00000351787.1	C			63601102	+1	no_errors	ENST00000478300	ensembl	human	known	70_37	nonsense	SNP	0.534	G
SYT1	6857	genome.wustl.edu	37	12	79685803	79685803	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:79685803G>A	ENST00000261205.4	+	6	1024	c.367G>A	c.(367-369)Gat>Aat	p.D123N	SYT1_ENST00000393240.3_Missense_Mutation_p.D123N|SYT1_ENST00000457153.2_Missense_Mutation_p.D120N|SYT1_ENST00000552744.1_Missense_Mutation_p.D123N	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	123					calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CAAGGATGATGATGCTGAAAC	0.383																																																	0													109.0	119.0	115.0					12																	79685803		2203	4300	6503	SO:0001583	missense	6857				CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.367G>A	12.37:g.79685803G>A	ENSP00000261205:p.Asp123Asn		Q6AI31	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.D123N	ENST00000261205.4	37	c.367	CCDS9017.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.22|18.22	3.575366|3.575366	0.65878|0.65878	.|.	.|.	ENSG00000067715|ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744;ENST00000552624;ENST00000446242|ENST00000549559	T;T;T;T;T;T|.	0.45668|.	1.03;1.03;0.89;1.03;0.89;1.03|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.090560|.	0.85682|.	D|.	0.000000|.	T|T	0.73297|0.73297	0.3569|0.3569	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P;P|.	0.46859|.	0.885;0.885|.	P;P|.	0.47626|.	0.552;0.552|.	T|T	0.70029|0.70029	-0.4984|-0.4984	10|5	0.42905|.	T|.	0.14|.	.|.	19.5366|19.5366	0.95255|0.95255	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	123;123|.	Q6AI31;P21579|.	.;SYT1_HUMAN|.	N|I	123;123;120;123;120;123|24	ENSP00000376932:D123N;ENSP00000261205:D123N;ENSP00000391056:D120N;ENSP00000447575:D123N;ENSP00000448861:D120N;ENSP00000401559:D123N|.	ENSP00000261205:D123N|.	D|M	+|+	1|3	0|0	SYT1|SYT1	78209934|78209934	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.869000|9.869000	0.99810|0.99810	2.617000|2.617000	0.88574|0.88574	0.585000|0.585000	0.79938|0.79938	GAT|ATG	SYT1	-	NULL		0.383	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT1	HGNC	protein_coding	OTTHUMT00000259415.1	G	NM_005639		79685803	+1	no_errors	ENST00000261205	ensembl	human	known	70_37	missense	SNP	1.000	A
SYTL1	84958	genome.wustl.edu	37	1	27678211	27678211	+	Intron	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:27678211G>C	ENST00000543823.1	+	12	1805				SYTL1_ENST00000490170.1_Intron|SYTL1_ENST00000318074.5_Intron			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		cagggaagttgaggacacctt	0.532																																																	0																																										SO:0001627	intron_variant	84958			AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.1343+165G>C	1.37:g.27678211G>C			Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	RNA	SNP	-	NULL	ENST00000543823.1	37	NULL	CCDS53286.1	1																																																																																			SYTL1	-	-		0.532	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SYTL1	HGNC	protein_coding		G	NM_032872		27678211	+1	no_errors	ENST00000475199	ensembl	human	known	70_37	rna	SNP	0.000	C
SYTL2	54843	genome.wustl.edu	37	11	85445564	85445564	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:85445564G>A	ENST00000528231.1	-	6	1082	c.805C>T	c.(805-807)Ccg>Tcg	p.P269S	SYTL2_ENST00000389960.4_Missense_Mutation_p.P269S|SYTL2_ENST00000527523.1_Missense_Mutation_p.P221S|SYTL2_ENST00000524452.1_Missense_Mutation_p.P269S|SYTL2_ENST00000316356.4_Missense_Mutation_p.P270S	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	269					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ATCCCTCTCGGAGCCCCTCTC	0.443																																																	0													133.0	136.0	135.0					11																	85445564		2203	4299	6502	SO:0001583	missense	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.805C>T	11.37:g.85445564G>A	ENSP00000431701:p.Pro269Ser		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain	p.P270S	ENST00000528231.1	37	c.808	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303542	0.60195	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T	0.35789	1.29;1.49;1.52;1.4;1.29	5.87	5.87	0.94306	.	.	.	.	.	T	0.61098	0.2320	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.983;0.998;1.0;0.998;0.983	T	0.56159	-0.8025	8	.	.	.	.	19.8095	0.96541	0.0:0.0:1.0:0.0	.	221;269;269;270;127	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15	.;.;SYTL2_HUMAN;.;.	S	269;270;269;221;269	ENSP00000374610:P269S;ENSP00000318803:P270S;ENSP00000431701:P269S;ENSP00000434010:P221S;ENSP00000435238:P269S	.	P	-	1	0	SYTL2	85123212	1.000000	0.71417	0.837000	0.33122	0.153000	0.21895	6.541000	0.73865	2.775000	0.95449	0.650000	0.86243	CCG	SYTL2	-	NULL		0.443	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	G	NM_206927		85445564	-1	no_errors	ENST00000316356	ensembl	human	known	70_37	missense	SNP	0.988	A
TACR1	6869	genome.wustl.edu	37	2	75280790	75280790	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:75280790C>G	ENST00000305249.5	-	3	1442	c.677G>C	c.(676-678)aGt>aCt	p.S226T	TACR1_ENST00000409848.3_Missense_Mutation_p.S226T	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	226					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GGGGATCTCACTGGCCCATAG	0.572											OREG0014726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(64;62 1268 3653 14826 43765)												0													116.0	95.0	102.0					2																	75280790		2203	4300	6503	SO:0001583	missense	6869			M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.677G>C	2.37:g.75280790C>G	ENSP00000303522:p.Ser226Thr	1159	A8K150	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_NK1_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK3_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.S226T	ENST00000305249.5	37	c.677	CCDS1958.1	2	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494999	0.85069	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.38240	1.15;1.15	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.50103	0.1596	M	0.71296	2.17	0.80722	D	1	P	0.46987	0.888	P	0.50617	0.646	T	0.52808	-0.8526	10	0.54805	T	0.06	.	15.7462	0.77944	0.0:1.0:0.0:0.0	.	226	P25103	NK1R_HUMAN	T	226	ENSP00000303522:S226T;ENSP00000386448:S226T	ENSP00000303522:S226T	S	-	2	0	TACR1	75134298	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.568000	0.82369	2.556000	0.86216	0.561000	0.74099	AGT	TACR1	-	pfam_GPCR_Rhodpsn,prints_Neurokn_rcpt,prints_NK3_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.572	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR1	HGNC	protein_coding	OTTHUMT00000252239.3	C	NM_001058		75280790	-1	no_errors	ENST00000305249	ensembl	human	known	70_37	missense	SNP	1.000	G
TANC2	26115	genome.wustl.edu	37	17	61492980	61492980	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:61492980G>A	ENST00000424789.2	+	23	3864	c.3860G>A	c.(3859-3861)cGg>cAg	p.R1287Q	TANC2_ENST00000389520.4_Missense_Mutation_p.R1297Q|RP11-269G24.3_ENST00000583552.1_RNA|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1287					in utero embryonic development (GO:0001701)			p.R1297Q(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AAAACTTTCCGGGAACTAAAG	0.502																																																	2	Substitution - Missense(2)	endometrium(2)											88.0	85.0	86.0					17																	61492980		1899	4131	6030	SO:0001583	missense	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.3860G>A	17.37:g.61492980G>A	ENSP00000387593:p.Arg1287Gln		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.R1287Q	ENST00000424789.2	37	c.3860	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869294	0.91587	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.73575	-0.76;-0.76	5.76	5.76	0.90799	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.63343	0.2503	N	0.04043	-0.29	0.53688	D	0.999978	B;P	0.47484	0.334;0.896	B;P	0.49361	0.04;0.608	T	0.62445	-0.6853	10	0.13470	T	0.59	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	1297;1287	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	Q	1297;1287	ENSP00000374171:R1297Q;ENSP00000387593:R1287Q	ENSP00000374171:R1297Q	R	+	2	0	TANC2	58846712	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.759000	0.62227	2.713000	0.92767	0.655000	0.94253	CGG	TANC2	-	pfscan_TPR-contain_dom		0.502	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	G			61492980	+1	no_errors	ENST00000424789	ensembl	human	known	70_37	missense	SNP	1.000	A
TANK	10010	genome.wustl.edu	37	2	162080448	162080448	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:162080448C>G	ENST00000392749.2	+	5	589	c.350C>G	c.(349-351)tCt>tGt	p.S117C	TANK_ENST00000402568.1_Missense_Mutation_p.S176C|AC009299.2_ENST00000445372.1_RNA|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000259075.2_Missense_Mutation_p.S117C|TANK_ENST00000406287.1_Missense_Mutation_p.S175C|TANK_ENST00000405852.1_Missense_Mutation_p.S117C	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	117					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						GAGGTTTCTTCTCCTAGAAAA	0.338																																																	0													59.0	63.0	62.0					2																	162080448		2203	4296	6499	SO:0001583	missense	10010			U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.350C>G	2.37:g.162080448C>G	ENSP00000376505:p.Ser117Cys		D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	NULL	p.S117C	ENST00000392749.2	37	c.350	CCDS2215.1	2	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634871	0.67130	.	.	ENSG00000136560	ENST00000259075;ENST00000432002;ENST00000392749;ENST00000429217;ENST00000406287;ENST00000402568;ENST00000405852;ENST00000456358;ENST00000437623	T;T;T;T	0.44482	1.78;1.78;1.35;0.92	4.89	4.89	0.63831	.	0.237754	0.36234	N	0.002716	T	0.46580	0.1400	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	P	0.55667	0.781	T	0.48490	-0.9031	10	0.59425	D	0.04	-0.6581	15.8235	0.78678	0.0:1.0:0.0:0.0	.	117	Q92844	TANK_HUMAN	C	117;118;117;118;175;176;117;143;8	ENSP00000259075:S117C;ENSP00000376505:S117C;ENSP00000385487:S117C;ENSP00000412556:S8C	ENSP00000259075:S117C	S	+	2	0	TANK	161788694	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.712000	0.54875	2.283000	0.76528	0.655000	0.94253	TCT	TANK	-	NULL		0.338	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TANK	HGNC	protein_coding	OTTHUMT00000324232.1	C	NM_133484		162080448	+1	no_errors	ENST00000259075	ensembl	human	known	70_37	missense	SNP	1.000	G
TBC1D9B	23061	genome.wustl.edu	37	5	179290680	179290680	+	Missense_Mutation	SNP	G	G	A	rs566315520		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:179290680G>A	ENST00000356834.3	-	22	3558	c.3521C>T	c.(3520-3522)aCg>aTg	p.T1174M	TBC1D9B_ENST00000444477.2_Missense_Mutation_p.T315M|TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.T1157M|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.T333M	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1174						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACCAGCACCGTGTCGTCTGC	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20092	0.0		0.0	False		,,,				2504	0.0																0													61.0	56.0	58.0					5																	179290680		2203	4300	6503	SO:0001583	missense	23061			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.3521C>T	5.37:g.179290680G>A	ENSP00000349291:p.Thr1174Met		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.T1174M	ENST00000356834.3	37	c.3521	CCDS43408.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.62|19.62	3.862103|3.862103	0.71949|0.71949	.|.	.|.	ENSG00000197226|ENSG00000197226	ENST00000524222|ENST00000356834;ENST00000355235;ENST00000519746;ENST00000444477;ENST00000544438	.|T;T;T;T	.|0.50001	.|2.63;2.66;0.76;1.01	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	.|0.261910	.|0.37012	.|N	.|0.002286	T|T	0.69575|0.69575	0.3126|0.3126	M|M	0.70275|0.70275	2.135|2.135	0.48452|0.48452	D|D	0.99965|0.99965	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.983;0.988;0.973;0.991;0.999	T|T	0.72554|0.72554	-0.4258|-0.4258	5|10	.|0.66056	.|D	.|0.02	-10.5416|-10.5416	18.8514|18.8514	0.92232|0.92232	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1156;1157;1174;373;248	.|A1L3A9;Q66K14-2;Q66K14;B3KM54;F5H5B8	.|.;.;TBC9B_HUMAN;.;.	W|M	217|1174;1157;333;315;248	.|ENSP00000349291:T1174M;ENSP00000347375:T1157M;ENSP00000430293:T333M;ENSP00000401585:T315M	.|ENSP00000347375:T1157M	R|T	-|-	1|2	2|0	TBC1D9B|TBC1D9B	179223286|179223286	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.640000|0.640000	0.38277|0.38277	7.541000|7.541000	0.82084|0.82084	2.433000|2.433000	0.82419|0.82419	0.561000|0.561000	0.74099|0.74099	CGG|ACG	TBC1D9B	-	NULL		0.622	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D9B	HGNC	protein_coding	OTTHUMT00000253501.3	G	NM_015043		179290680	-1	no_errors	ENST00000356834	ensembl	human	known	70_37	missense	SNP	0.997	A
TDRD3	81550	genome.wustl.edu	37	13	61103127	61103127	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr13:61103127G>A	ENST00000196169.3	+	11	2277	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K	TDRD3_ENST00000377881.2_Missense_Mutation_p.E497K|TDRD3_ENST00000535286.1_Missense_Mutation_p.E590K|TDRD3_ENST00000377894.2_Missense_Mutation_p.E497K	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	497					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TCCAAATGGAGAAGTAGAAAT	0.353																																					Colon(36;164 906 35820 50723)												0													49.0	48.0	49.0					13																	61103127		2203	4300	6503	SO:0001583	missense	81550			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.1489G>A	13.37:g.61103127G>A	ENSP00000196169:p.Glu497Lys		B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk	p.E590K	ENST00000196169.3	37	c.1768	CCDS9441.1	13	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069322	0.55539	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	D;D;D;D	0.93811	-3.28;-3.28;-3.28;-3.29	5.84	5.84	0.93424	.	0.385133	0.30235	N	0.010092	D	0.91573	0.7338	L	0.56769	1.78	0.58432	D	0.999996	P;P;P	0.43826	0.818;0.775;0.544	B;B;B	0.36567	0.228;0.225;0.084	D	0.90297	0.4327	10	0.33141	T	0.24	-19.0516	20.5276	0.99231	0.0:0.0:1.0:0.0	.	590;496;497	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	K	497;497;497;590	ENSP00000196169:E497K;ENSP00000367113:E497K;ENSP00000367126:E497K;ENSP00000440190:E590K	ENSP00000196169:E497K	E	+	1	0	TDRD3	60001128	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.492000	0.81482	2.937000	0.99478	0.650000	0.86243	GAA	TDRD3	-	NULL		0.353	TDRD3-201	KNOWN	basic|CCDS	protein_coding	TDRD3	HGNC	protein_coding	OTTHUMT00000045175.2	G	NM_030794		61103127	+1	no_errors	ENST00000535286	ensembl	human	known	70_37	missense	SNP	1.000	A
TENM4	26011	genome.wustl.edu	37	11	78926879	78926879	+	5'UTR	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:78926879G>A	ENST00000278550.7	-	0	274					NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4						cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										ACGTTCTGAAGAGTCAGCAAT	0.512																																																	0																																										SO:0001623	5_prime_UTR_variant	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.-189C>T	11.37:g.78926879G>A			A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	RNA	SNP	-	NULL	ENST00000278550.7	37	NULL	CCDS44688.1	11																																																																																			TENM4	-	-		0.512	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	G			78926879	-1	no_errors	ENST00000528688	ensembl	human	known	70_37	rna	SNP	0.998	A
TESK1	7016	genome.wustl.edu	37	9	35607008	35607008	+	Intron	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:35607008G>A	ENST00000336395.5	+	4	787				MIR4667_ENST00000578933.1_RNA|TESK1_ENST00000498522.1_Intron|CD72_ENST00000490239.1_5'Flank	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1						cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTGGAGACATGAAAGAGGGTT	0.507																																																	0													19.0	16.0	17.0					9																	35607008		2203	4299	6502	SO:0001627	intron_variant	7016			D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.537+28G>A	9.37:g.35607008G>A			Q8IXZ8	RNA	SNP	-	NULL	ENST00000336395.5	37	NULL	CCDS6580.1	9																																																																																			TESK1	-	-		0.507	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK1	HGNC	protein_coding	OTTHUMT00000052314.1	G	NM_006285		35607008	+1	no_errors	ENST00000467424	ensembl	human	known	70_37	rna	SNP	0.005	A
TFAP2B	7021	genome.wustl.edu	37	6	50803853	50803853	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:50803853C>T	ENST00000393655.3	+	4	850	c.681C>T	c.(679-681)ggC>ggT	p.G227G	TFAP2B_ENST00000263046.4_Silent_p.G236G	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	227					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					TCAACACCGGCGAGGTGTTTT	0.498																																					Pancreas(116;1373 2332 5475 10752)												0													105.0	107.0	106.0					6																	50803853		2203	4300	6503	SO:0001819	synonymous_variant	7021			X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.681C>T	6.37:g.50803853C>T			Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent	SNP	pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C	p.G236	ENST00000393655.3	37	c.708	CCDS4934.2	6																																																																																			TFAP2B	-	prints_TF_AP2_beta		0.498	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2B	HGNC	protein_coding	OTTHUMT00000040886.3	C	NM_003221		50803853	+1	no_errors	ENST00000263046	ensembl	human	known	70_37	silent	SNP	0.999	T
TGM3	7053	genome.wustl.edu	37	20	2315844	2315844	+	Silent	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr20:2315844G>C	ENST00000381458.5	+	11	1788	c.1725G>C	c.(1723-1725)gtG>gtC	p.V575V		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	575					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TCACAGCGGTGTGCAAGGTCC	0.557																																																	0													174.0	137.0	149.0					20																	2315844		2203	4300	6503	SO:0001819	synonymous_variant	7053			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1725G>C	20.37:g.2315844G>C			A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.V575	ENST00000381458.5	37	c.1725	CCDS33435.1	20																																																																																			TGM3	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C		0.557	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM3	HGNC	protein_coding	OTTHUMT00000077579.2	G	NM_003245		2315844	+1	no_errors	ENST00000381458	ensembl	human	known	70_37	silent	SNP	0.965	C
THBS3	7059	genome.wustl.edu	37	1	155167918	155167918	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:155167918A>G	ENST00000368378.3	-	18	2188	c.2168T>C	c.(2167-2169)cTt>cCt	p.L723P	RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000541990.1_Missense_Mutation_p.L252P|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000541576.1_Missense_Mutation_p.L120P|RP11-263K19.4_ENST00000454348.1_RNA|MIR92B_ENST00000607575.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.L603P|THBS3_ENST00000486260.1_5'Flank|RP11-263K19.4_ENST00000447623.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	723					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AAAATCCGTAAGCGTTACCTC	0.542																																																	0													165.0	136.0	146.0					1																	155167918		2203	4300	6503	SO:0001583	missense	7059			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.2168T>C	1.37:g.155167918A>G	ENSP00000357362:p.Leu723Pro		B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.L723P	ENST00000368378.3	37	c.2168	CCDS1099.1	1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.475816	0.63737	.	.	ENSG00000169231	ENST00000368378;ENST00000541576;ENST00000457183;ENST00000541990	D;D;D;D	0.97850	-1.52;-4.57;-1.57;-4.56	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000002	D	0.98488	0.9496	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.71674	0.997;0.997;0.997;0.998	D;D;D;D	0.77004	0.984;0.972;0.972;0.989	D	0.98725	1.0710	10	0.46703	T	0.11	-18.3036	12.8352	0.57770	1.0:0.0:0.0:0.0	.	603;723;723;723	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	P	723;120;603;252	ENSP00000357362:L723P;ENSP00000444792:L120P;ENSP00000392207:L603P;ENSP00000437353:L252P	ENSP00000357362:L723P	L	-	2	0	THBS3	153434542	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.193000	0.77780	2.132000	0.65825	0.460000	0.39030	CTT	THBS3	-	NULL		0.542	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS3	HGNC	protein_coding	OTTHUMT00000086856.1	A	NM_007112		155167918	-1	no_errors	ENST00000368378	ensembl	human	known	70_37	missense	SNP	1.000	G
TMCO1	54499	genome.wustl.edu	37	1	165738104	165738104	+	5'UTR	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:165738104C>G	ENST00000392129.6	-	0	35				RP11-466F5.8_ENST00000423121.1_RNA|TMCO1_ENST00000464650.1_5'UTR|TMCO1_ENST00000367881.5_Missense_Mutation_p.R13T|TMCO1_ENST00000580248.1_Intron	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CAGACCAACTCTGACAGCCCG	0.592																																																	0																																										SO:0001623	5_prime_UTR_variant	54499			AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"""transmembrane and coiled-coil domains 4"""	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.-116G>C	1.37:g.165738104C>G			B2REA0|O75545|Q9BZS3|Q9BZU8	Missense_Mutation	SNP	pfam_DUF106_TM	p.R13T	ENST00000392129.6	37	c.38		1																																																																																			TMCO1	-	NULL		0.592	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	TMCO1	HGNC	protein_coding	OTTHUMT00000467850.1	C	NM_019026		165738104	-1	no_errors	ENST00000367881	ensembl	human	known	70_37	missense	SNP	0.111	G
POR	5447	genome.wustl.edu	37	7	75616635	75616635	+	IGR	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:75616635G>A	ENST00000461988.1	+	0	2522				TMEM120A_ENST00000338761.4_RNA|TMEM120A_ENST00000493111.2_RNA	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase						carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	GGCTGGACATGGGCCTGGCCC	0.602																																																	0													34.0	43.0	40.0					7																	75616635		2024	4191	6215	SO:0001628	intergenic_variant	83862			AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413		7.37:g.75616635G>A			Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	RNA	SNP	-	NULL	ENST00000461988.1	37	NULL	CCDS5579.1	7																																																																																			TMEM120A	-	-		0.602	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM120A	HGNC	protein_coding	OTTHUMT00000252796.7	G	NM_000941		75616635	-1	no_errors	ENST00000417509	ensembl	human	known	70_37	rna	SNP	0.000	A
TMEM134	80194	genome.wustl.edu	37	11	67231843	67231843	+	IGR	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:67231843C>T	ENST00000308022.2	-	0	807				TMEM134_ENST00000541059.1_5'Flank|CTC-1337H24.2_ENST00000602944.1_lincRNA	NM_001078651.1|NM_025124.2	NP_001072119.1|NP_079400.1	Q9H6X4	TM134_HUMAN	transmembrane protein 134							integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						ATTAATTACTCTTTTATTAGC	0.577																																																	0																																										SO:0001628	intergenic_variant	80194			AK025402	CCDS8167.1, CCDS41678.1	11q13.2	2006-03-09			ENSG00000172663	ENSG00000172663			26142	protein-coding gene	gene with protein product							Standard	NM_025124		Approved	FLJ21749	uc001olq.2	Q9H6X4	OTTHUMG00000168034		11.37:g.67231843C>T			Q08AK4|Q6PJN3	RNA	SNP	-	NULL	ENST00000308022.2	37	NULL	CCDS8167.1	11																																																																																			TMEM134	-	-		0.577	TMEM134-020	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TMEM134	HGNC	protein_coding	OTTHUMT00000398994.1	C	NM_025124		67231843	-1	no_errors	ENST00000535813	ensembl	human	known	70_37	rna	SNP	0.520	T
TMEM180	79847	genome.wustl.edu	37	10	104231094	104231094	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:104231094C>T	ENST00000238936.4	+	6	1006	c.769C>T	c.(769-771)Ctc>Ttc	p.L257F	TMEM180_ENST00000366277.2_5'UTR|TMEM180_ENST00000369931.3_Missense_Mutation_p.L106F	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	257						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGGCCGGTATCTCCGGCAGCT	0.637																																																	0													85.0	74.0	77.0					10																	104231094		2203	4300	6503	SO:0001583	missense	79847			AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.769C>T	10.37:g.104231094C>T	ENSP00000238936:p.Leu257Phe		Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.L257F	ENST00000238936.4	37	c.769	CCDS7535.1	10	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122571	0.77436	.	.	ENSG00000138111	ENST00000447593;ENST00000238936;ENST00000369931	D	0.87491	-2.26	5.52	4.61	0.57282	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.88840	0.6546	L	0.37897	1.145	0.80722	D	1	P;B;D	0.89917	0.649;0.302;1.0	B;B;D	0.91635	0.216;0.25;0.999	D	0.85606	0.1255	10	0.19147	T	0.46	.	13.1624	0.59552	0.0:0.9231:0.0:0.0769	.	106;257;106	B4DWN6;Q14CX5;Q6UWF4	.;TM180_HUMAN;.	F	106;257;106	ENSP00000238936:L257F	ENSP00000238936:L257F	L	+	1	0	TMEM180	104221084	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	4.354000	0.59417	1.323000	0.45263	0.561000	0.74099	CTC	TMEM180	-	superfamily_MFS_dom_general_subst_transpt		0.637	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM180	HGNC	protein_coding	OTTHUMT00000050075.2	C	NM_024789		104231094	+1	no_errors	ENST00000238936	ensembl	human	known	70_37	missense	SNP	1.000	T
TMEM74	157753	genome.wustl.edu	37	8	109796644	109796644	+	Silent	SNP	C	C	T	rs148272291		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:109796644C>T	ENST00000297459.3	-	2	862	c.684G>A	c.(682-684)ctG>ctA	p.L228L	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	228					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			CACAGCGGTCCAGGTGAGCCC	0.622																																																	0													58.0	56.0	57.0					8																	109796644		2203	4300	6503	SO:0001819	synonymous_variant	157753			AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.684G>A	8.37:g.109796644C>T				Silent	SNP	NULL	p.L228	ENST00000297459.3	37	c.684	CCDS6310.1	8																																																																																			TMEM74	-	NULL		0.622	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM74	HGNC	protein_coding	OTTHUMT00000380755.1	C	NM_153015		109796644	-1	no_errors	ENST00000297459	ensembl	human	known	70_37	silent	SNP	1.000	T
TNIK	23043	genome.wustl.edu	37	3	170858273	170858273	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:170858273C>T	ENST00000436636.2	-	13	1591	c.1247G>A	c.(1246-1248)cGg>cAg	p.R416Q	TNIK_ENST00000470834.1_Missense_Mutation_p.R416Q|TNIK_ENST00000538048.1_Missense_Mutation_p.R416Q|TNIK_ENST00000357327.5_Missense_Mutation_p.R416Q|TNIK_ENST00000341852.6_Missense_Mutation_p.R416Q|TNIK_ENST00000460047.1_Missense_Mutation_p.R416Q|TNIK_ENST00000488470.1_Missense_Mutation_p.R416Q|TNIK_ENST00000284483.8_Missense_Mutation_p.R416Q|TNIK_ENST00000475336.1_Missense_Mutation_p.R416Q|TNIK_ENST00000369326.5_Missense_Mutation_p.R416Q	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	416	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTGCTGCTTCCGCAGCTCCTT	0.632																																																	0													81.0	89.0	87.0					3																	170858273		2046	4188	6234	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1247G>A	3.37:g.170858273C>T	ENSP00000399511:p.Arg416Gln		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.R416Q	ENST00000436636.2	37	c.1247	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803605	0.70682	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.52983	3.7;0.64;3.69;0.64;4.32;0.64;0.64;3.69;3.69;0.64	5.55	5.55	0.83447	.	0.058706	0.64402	D	0.000003	T	0.52948	0.1766	M	0.79123	2.44	0.47862	D	0.999532	P;P;P;P;P;P;P;P	0.45672	0.864;0.864;0.864;0.864;0.864;0.864;0.864;0.787	B;B;B;B;B;B;B;B	0.39027	0.288;0.288;0.288;0.288;0.288;0.288;0.288;0.15	T	0.61802	-0.6988	10	0.54805	T	0.06	.	19.1249	0.93378	0.0:1.0:0.0:0.0	.	416;416;416;416;416;416;416;416	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	Q	416	ENSP00000399511:R416Q;ENSP00000358332:R416Q;ENSP00000443278:R416Q;ENSP00000345352:R416Q;ENSP00000284483:R416Q;ENSP00000418156:R416Q;ENSP00000349880:R416Q;ENSP00000418916:R416Q;ENSP00000418378:R416Q;ENSP00000419990:R416Q	ENSP00000284483:R416Q	R	-	2	0	TNIK	172340967	0.995000	0.38212	1.000000	0.80357	0.983000	0.72400	4.636000	0.61339	2.608000	0.88229	0.650000	0.86243	CGG	TNIK	-	NULL		0.632	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	C	XM_039796		170858273	-1	no_errors	ENST00000436636	ensembl	human	known	70_37	missense	SNP	1.000	T
TNRC6C	57690	genome.wustl.edu	37	17	76060847	76060847	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:76060847G>A	ENST00000588061.1	+	6	3167	c.2440G>A	c.(2440-2442)Gaa>Aaa	p.E814K	TNRC6C_ENST00000588847.1_Missense_Mutation_p.E811K|TNRC6C_ENST00000544502.1_Missense_Mutation_p.E811K|TNRC6C_ENST00000541771.1_Missense_Mutation_p.E814K|RNU6-625P_ENST00000459412.1_RNA|TNRC6C_ENST00000301624.4_Missense_Mutation_p.E814K|TNRC6C_ENST00000335749.4_Missense_Mutation_p.E811K			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	814	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CTCAAAGACTGAAAACTCTTG	0.498																																																	0													70.0	71.0	71.0					17																	76060847		1865	4121	5986	SO:0001583	missense	57690			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.2440G>A	17.37:g.76060847G>A	ENSP00000468647:p.Glu814Lys		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E811K	ENST00000588061.1	37	c.2431	CCDS45798.1	17	.	.	.	.	.	.	.	.	.	.	G	24.1	4.499050	0.85069	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	5.66	5.66	0.87406	.	0.049930	0.85682	D	0.000000	T	0.27063	0.0663	M	0.64997	1.995	0.80722	D	1	B;P;D	0.58268	0.152;0.546;0.982	B;B;P	0.50405	0.116;0.221;0.64	T	0.06215	-1.0839	10	0.06236	T	0.91	-5.24	19.7234	0.96151	0.0:0.0:1.0:0.0	.	811;814;814	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	K	814;811;811;814;814;811	ENSP00000336783:E811K;ENSP00000301624:E814K;ENSP00000440310:E814K;ENSP00000442421:E811K	ENSP00000301624:E814K	E	+	1	0	TNRC6C	73572442	1.000000	0.71417	0.956000	0.39512	0.997000	0.91878	9.415000	0.97375	2.668000	0.90789	0.655000	0.94253	GAA	TNRC6C	-	NULL		0.498	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	HGNC	protein_coding	OTTHUMT00000395947.1	G	NM_018996		76060847	+1	no_errors	ENST00000335749	ensembl	human	known	70_37	missense	SNP	1.000	A
TOR3A	64222	genome.wustl.edu	37	1	179054980	179054980	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:179054980C>T	ENST00000367627.3	+	3	1343	c.591C>T	c.(589-591)ttC>ttT	p.F197F	TOR3A_ENST00000495145.1_3'UTR|TOR3A_ENST00000352445.6_Silent_p.F197F	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	197					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TCAGGATGTTCATCGCCACGT	0.592																																																	0													95.0	76.0	83.0					1																	179054980		2203	4300	6503	SO:0001819	synonymous_variant	64222			BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"""ATP-dependant interferon responsive"""	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.591C>T	1.37:g.179054980C>T			B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Silent	SNP	pfam_Torsin	p.F197	ENST00000367627.3	37	c.591	CCDS1329.1	1																																																																																			TOR3A	-	pfam_Torsin		0.592	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR3A	HGNC	protein_coding	OTTHUMT00000084927.1	C	NM_022371		179054980	+1	no_errors	ENST00000367627	ensembl	human	known	70_37	silent	SNP	1.000	T
TOR4A	54863	genome.wustl.edu	37	9	140173663	140173663	+	Silent	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:140173663G>C	ENST00000357503.2	+	2	718	c.522G>C	c.(520-522)ctG>ctC	p.L174L		NM_017723.2	NP_060193.2	Q9NXH8	TOR4A_HUMAN	torsin family 4, member A	174					chaperone mediated protein folding requiring cofactor (GO:0051085)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)										TCGTGGCGCTGATGCGGGACT	0.697																																																	0													8.0	8.0	8.0					9																	140173663		2155	4239	6394	SO:0001819	synonymous_variant	54863			AK023361	CCDS7041.1	9q34.3	2012-04-03	2012-04-03	2012-04-03	ENSG00000198113	ENSG00000198113			25981	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 167"""	C9orf167			Standard	NM_017723		Approved	FLJ20245	uc004cmn.3	Q9NXH8	OTTHUMG00000131779	ENST00000357503.2:c.522G>C	9.37:g.140173663G>C			A2BFA4	Silent	SNP	pfam_Torsin,smart_AAA+_ATPase	p.L174	ENST00000357503.2	37	c.522	CCDS7041.1	9																																																																																			TOR4A	-	pfam_Torsin		0.697	TOR4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR4A	HGNC	protein_coding	OTTHUMT00000254711.1	G	NM_017723		140173663	+1	no_errors	ENST00000357503	ensembl	human	known	70_37	silent	SNP	1.000	C
TPD52L1	7164	genome.wustl.edu	37	6	125541297	125541297	+	Silent	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:125541297C>G	ENST00000534000.1	+	2	389	c.93C>G	c.(91-93)ctC>ctG	p.L31L	TPD52L1_ENST00000532429.1_Silent_p.L2L|TPD52L1_ENST00000368388.2_Silent_p.L31L|TPD52L1_ENST00000528193.1_Silent_p.L31L|TPD52L1_ENST00000368402.5_Silent_p.L31L|TPD52L1_ENST00000527711.1_Silent_p.L31L|TPD52L1_ENST00000534199.1_Silent_p.L2L|TPD52L1_ENST00000304877.13_Silent_p.L31L|TPD52L1_ENST00000392482.2_Silent_p.L2L|HDDC2_ENST00000608456.1_5'UTR|TPD52L1_ENST00000524679.1_Silent_p.L2L	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	31					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		CTAGCATGCTCTCTGAGGAGG	0.388																																																	0													139.0	135.0	136.0					6																	125541297		2203	4300	6503	SO:0001819	synonymous_variant	7164			U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.93C>G	6.37:g.125541297C>G			A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Silent	SNP	pfam_TPD52	p.L31	ENST00000534000.1	37	c.93	CCDS5130.1	6																																																																																			TPD52L1	-	pfam_TPD52		0.388	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPD52L1	HGNC	protein_coding	OTTHUMT00000042065.2	C			125541297	+1	no_errors	ENST00000534000	ensembl	human	known	70_37	silent	SNP	0.970	G
TPH1	7166	genome.wustl.edu	37	11	18050790	18050790	+	Silent	SNP	A	A	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:18050790A>G	ENST00000250018.2	-	5	1151	c.589T>C	c.(589-591)Tta>Cta	p.L197L	TPH1_ENST00000341556.2_Silent_p.L197L	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	197					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	AGCAAAGGTAAGTTTTTGAGA	0.373																																																	0													194.0	201.0	199.0					11																	18050790		2200	4293	6493	SO:0001819	synonymous_variant	7166			X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.589T>C	11.37:g.18050790A>G			D3DQX6|O95188|O95189|Q16736|Q3KPG8	Silent	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase	p.L197	ENST00000250018.2	37	c.589	CCDS7829.1	11																																																																																			TPH1	-	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase		0.373	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPH1	HGNC	protein_coding	OTTHUMT00000389696.1	A	NM_004179		18050790	-1	no_errors	ENST00000341556	ensembl	human	known	70_37	silent	SNP	1.000	G
TPX2	22974	genome.wustl.edu	37	20	30385276	30385276	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr20:30385276C>T	ENST00000300403.6	+	16	2431	c.1903C>T	c.(1903-1905)Cag>Tag	p.Q635*	TPX2_ENST00000340513.4_Nonsense_Mutation_p.Q671*	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	635					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)	p.Q635E(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CGTCATCTCTCAGGAGCCCTT	0.458																																																	1	Substitution - Missense(1)	cervix(1)											170.0	175.0	173.0					20																	30385276		2203	4300	6503	SO:0001587	stop_gained	22974			AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1903C>T	20.37:g.30385276C>T	ENSP00000300403:p.Gln635*		Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Nonsense_Mutation	SNP	pfam_TPX2_importin,pfam_Aurora-A-bd,pfam_Xklp2_targeting_prot	p.Q671*	ENST00000300403.6	37	c.2011	CCDS13190.1	20	.	.	.	.	.	.	.	.	.	.	C	43	10.027826	0.99320	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	.	.	.	5.93	5.93	0.95920	.	0.056612	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-15.0415	19.3291	0.94278	0.0:1.0:0.0:0.0	.	.	.	.	X	635;671	.	ENSP00000300403:Q635X	Q	+	1	0	TPX2	29848937	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.255000	0.65462	2.814000	0.96858	0.655000	0.94253	CAG	TPX2	-	NULL		0.458	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPX2	HGNC	protein_coding	OTTHUMT00000078569.2	C			30385276	+1	no_errors	ENST00000340513	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PHLDB1	23187	genome.wustl.edu	37	11	118531414	118531414	+	IGR	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:118531414G>C	ENST00000361417.2	+	0	5753				TREH_ENST00000529101.1_Silent_p.L312L|TREH_ENST00000264029.4_Silent_p.L312L|TREH_ENST00000530256.1_Silent_p.L189L|TREH_ENST00000525958.1_Silent_p.L281L|TREH_ENST00000397925.1_Silent_p.L281L	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1											breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCCCAGCCTTGAGCTCAGCCC	0.617																																																	0													34.0	39.0	37.0					11																	118531414		2045	4202	6247	SO:0001628	intergenic_variant	11181				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341		11.37:g.118531414G>C			B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	pfam_Glyco_hydro_37,superfamily_6-hairpin_glycosidase-like,prints_Glyco_hydro_37	p.L312	ENST00000361417.2	37	c.936	CCDS8401.1	11																																																																																			TREH	-	pfam_Glyco_hydro_37,superfamily_6-hairpin_glycosidase-like,prints_Glyco_hydro_37		0.617	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TREH	HGNC	protein_coding	OTTHUMT00000389279.1	G	NM_015157		118531414	-1	no_errors	ENST00000264029	ensembl	human	known	70_37	silent	SNP	1.000	C
TRIM29	23650	genome.wustl.edu	37	11	120008473	120008473	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:120008473C>G	ENST00000341846.5	-	1	688	c.267G>C	c.(265-267)aaG>aaC	p.K89N		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	89					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		AGTTGGAGTTCTTGTCGTCCC	0.622																																																	0													143.0	157.0	152.0					11																	120008473		2203	4300	6503	SO:0001583	missense	23650			AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.267G>C	11.37:g.120008473C>G	ENSP00000343129:p.Lys89Asn		Q96AA9|Q9BZY7	Missense_Mutation	SNP	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	p.K89N	ENST00000341846.5	37	c.267	CCDS8428.1	11	.	.	.	.	.	.	.	.	.	.	C	15.47	2.841929	0.51057	.	.	ENSG00000137699	ENST00000341846;ENST00000529011;ENST00000529495;ENST00000532833	T	0.54675	0.56	5.37	2.48	0.30137	.	0.000000	0.64402	D	0.000007	T	0.56232	0.1971	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.48410	-0.9038	9	.	.	.	.	8.7568	0.34650	0.0:0.7739:0.0:0.2261	.	89	Q14134	TRI29_HUMAN	N	89	ENSP00000343129:K89N	.	K	-	3	2	TRIM29	119513683	0.984000	0.35163	0.994000	0.49952	0.506000	0.33950	1.967000	0.40491	0.242000	0.21303	0.655000	0.94253	AAG	TRIM29	-	NULL		0.622	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM29	HGNC	protein_coding	OTTHUMT00000277108.2	C	NM_012101		120008473	-1	no_errors	ENST00000341846	ensembl	human	known	70_37	missense	SNP	0.997	G
PYDC1	260434	genome.wustl.edu	37	16	31230472	31230472	+	5'Flank	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:31230472G>A	ENST00000302964.3	-	0	0				PYDC1_ENST00000568383.1_5'Flank|TRIM72_ENST00000322122.3_Silent_p.K149K	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1						innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GCAAGGAGAAGAGTGTGGCTG	0.627																																																	0													50.0	41.0	44.0					16																	31230472		2196	4300	6496	SO:0001631	upstream_gene_variant	493829				CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"""pyrin domain containing 1"""			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407		16.37:g.31230472G>A	Exception_encountered		B2R8L4|Q8NFP8	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.K149	ENST00000302964.3	37	c.447	CCDS10710.1	16																																																																																			TRIM72	-	NULL		0.627	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM72	HGNC	protein_coding	OTTHUMT00000255543.2	G	NM_152901		31230472	+1	no_errors	ENST00000322122	ensembl	human	known	70_37	silent	SNP	1.000	A
TRMT12	55039	genome.wustl.edu	37	8	125463244	125463244	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:125463244G>C	ENST00000328599.3	+	1	197	c.76G>C	c.(76-78)Gag>Cag	p.E26Q	TRMT12_ENST00000521443.1_3'UTR	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	26					tRNA processing (GO:0008033)		transferase activity (GO:0016740)			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AGTTGTGACTGAGCCTTGGTT	0.517																																																	0													127.0	132.0	130.0					8																	125463244		2203	4300	6503	SO:0001583	missense	55039			AF313041	CCDS6349.1	8q24.13	2011-05-09	2006-11-16		ENSG00000183665	ENSG00000183665			26091	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 2"""	611244	"""tRNA methyltranferase 12 homolog (S. cerevisiae)"""			16005430, 17150819	Standard	NM_017956		Approved	FLJ20772, Trm12, TYW2	uc003yra.4	Q53H54	OTTHUMG00000165022	ENST00000328599.3:c.76G>C	8.37:g.125463244G>C	ENSP00000329858:p.Glu26Gln		Q6PKB9|Q96F21|Q9NWK6	Missense_Mutation	SNP	pfam_tRNA_Trfase_Trm5/Tyw2	p.E26Q	ENST00000328599.3	37	c.76	CCDS6349.1	8	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435083	0.62955	.	.	ENSG00000183665	ENST00000328599	T	0.51574	0.7	5.15	5.15	0.70609	.	0.380247	0.28865	N	0.013892	T	0.64627	0.2615	M	0.68952	2.095	0.42869	D	0.994138	D	0.76494	0.999	D	0.66716	0.946	T	0.62959	-0.6743	10	0.41790	T	0.15	-21.0089	14.8493	0.70284	0.0:0.0:1.0:0.0	.	26	Q53H54	TYW2_HUMAN	Q	26	ENSP00000329858:E26Q	ENSP00000329858:E26Q	E	+	1	0	TRMT12	125532425	0.317000	0.24589	0.996000	0.52242	0.568000	0.35870	1.126000	0.31344	2.791000	0.96007	0.561000	0.74099	GAG	TRMT12	-	NULL		0.517	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT12	HGNC	protein_coding	OTTHUMT00000381465.1	G	NM_017956		125463244	+1	no_errors	ENST00000328599	ensembl	human	known	70_37	missense	SNP	1.000	C
TROVE2	6738	genome.wustl.edu	37	1	193038217	193038217	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:193038217G>A	ENST00000367446.3	+	2	243	c.33G>A	c.(31-33)ctG>ctA	p.L11L	TROVE2_ENST00000367441.1_Silent_p.L11L|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000367444.3_Silent_p.L11L|TROVE2_ENST00000400968.2_Silent_p.L11L|TROVE2_ENST00000367443.1_Silent_p.L11L|TROVE2_ENST00000367445.3_Silent_p.L11L	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	11					cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TGCAGCCACTGAATGAGAAGC	0.388																																																	0													90.0	85.0	87.0					1																	193038217		1901	4128	6029	SO:0001819	synonymous_variant	6738			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.33G>A	1.37:g.193038217G>A			B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Silent	SNP	pfam_TROVE,pfscan_TROVE	p.L11	ENST00000367446.3	37	c.33	CCDS1379.1	1																																																																																			TROVE2	-	NULL		0.388	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROVE2	HGNC	protein_coding	OTTHUMT00000086688.1	G	NM_004600		193038217	+1	no_errors	ENST00000367441	ensembl	human	known	70_37	silent	SNP	0.986	A
TRRAP	8295	genome.wustl.edu	37	7	98579413	98579413	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr7:98579413G>T	ENST00000359863.4	+	58	8844	c.8635G>T	c.(8635-8637)Gag>Tag	p.E2879*	TRRAP_ENST00000446306.3_Nonsense_Mutation_p.E2861*|TRRAP_ENST00000355540.3_Nonsense_Mutation_p.E2861*	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2879	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGTCCGAAGGAGATGGCCTG	0.562																																																	0													46.0	32.0	37.0					7																	98579413		2203	4300	6503	SO:0001587	stop_gained	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.8635G>T	7.37:g.98579413G>T	ENSP00000352925:p.Glu2879*		A4D265|O75218|Q9Y631|Q9Y6H4	Nonsense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E2879*	ENST00000359863.4	37	c.8635	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	51|51	18.130378|18.130378	0.99899|0.99899	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	.|.	.|.	.|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79805	.|0.4509	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77778	.|-0.2460	.|3	0.11794|.	T|.	0.64|.	.|.	19.8471|19.8471	0.96713|0.96713	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|S	2879;2861;2860|2600	.|.	ENSP00000347733:E2861X|.	E|R	+|+	1|3	0|2	TRRAP|TRRAP	98417349|98417349	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.898000|0.898000	0.52572|0.52572	9.869000|9.869000	0.99810|0.99810	2.688000|2.688000	0.91661|0.91661	0.655000|0.655000	0.94253|0.94253	GAG|AGG	TRRAP	-	pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT		0.562	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	G	NM_003496		98579413	+1	no_errors	ENST00000359863	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TTBK1	84630	genome.wustl.edu	37	6	43251427	43251427	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:43251427C>T	ENST00000259750.4	+	14	3032	c.2949C>T	c.(2947-2949)ctC>ctT	p.L983L		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	983					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AGAACGGCCTCGCCCTGTCAG	0.682																																																	0													19.0	24.0	23.0					6																	43251427		2200	4296	6496	SO:0001819	synonymous_variant	84630			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.2949C>T	6.37:g.43251427C>T			A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L983	ENST00000259750.4	37	c.2949	CCDS34455.1	6																																																																																			TTBK1	-	NULL		0.682	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	C			43251427	+1	no_errors	ENST00000259750	ensembl	human	known	70_37	silent	SNP	0.000	T
TTBK1	84630	genome.wustl.edu	37	6	43251852	43251852	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:43251852C>T	ENST00000259750.4	+	14	3457	c.3374C>T	c.(3373-3375)tCa>tTa	p.S1125L		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1125					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GAGACCCTCTCAGGCACGGGC	0.711																																																	0													3.0	4.0	3.0					6																	43251852		1892	3794	5686	SO:0001583	missense	84630			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.3374C>T	6.37:g.43251852C>T	ENSP00000259750:p.Ser1125Leu		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S1125L	ENST00000259750.4	37	c.3374	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911520	0.92178	.	.	ENSG00000146216	ENST00000259750	T	0.61627	0.09	5.29	5.29	0.74685	.	0.212570	0.31102	N	0.008251	T	0.68384	0.2995	L	0.58101	1.795	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.71441	-0.4592	10	0.72032	D	0.01	.	17.7038	0.88303	0.0:1.0:0.0:0.0	.	1125	Q5TCY1	TTBK1_HUMAN	L	1125	ENSP00000259750:S1125L	ENSP00000259750:S1125L	S	+	2	0	TTBK1	43359830	1.000000	0.71417	0.829000	0.32907	0.973000	0.67179	7.167000	0.77562	2.484000	0.83849	0.555000	0.69702	TCA	TTBK1	-	NULL		0.711	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	C			43251852	+1	no_errors	ENST00000259750	ensembl	human	known	70_37	missense	SNP	0.995	T
CFAP46	54777	genome.wustl.edu	37	10	134686181	134686181	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:134686181G>A	ENST00000368582.2	-	32	4610	c.4510C>T	c.(4510-4512)Cgg>Tgg	p.R1504W	TTC40_ENST00000368586.5_Splice_Site_p.R1504C																breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TGTACCCACCGAAGGTGGTAG	0.478																																																	0																																										SO:0001583	missense	54777																														ENST00000368582.2:c.4510C>T	10.37:g.134686181G>A	ENSP00000357571:p.Arg1504Trp			Missense_Mutation	SNP	NULL	p.R1504W	ENST00000368582.2	37	c.4510		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.73|11.73	1.725600|1.725600	0.30593|0.30593	.|.	.|.	ENSG00000171811|ENSG00000171811	ENST00000368586|ENST00000368582	T|T	0.13778|0.54071	2.56|0.59	5.33|5.33	-1.22|-1.22	0.09494|0.09494	.|.	.|.	.|.	.|.	.|.	T|T	0.50854|0.50854	0.1640|0.1640	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999997|0.999997	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.52616|0.52616	-0.8552|-0.8552	6|6	0.87932|0.72032	D|D	0|0.01	.|.	8.8685|8.8685	0.35300|0.35300	0.0793:0.0:0.3559:0.5648|0.0793:0.0:0.3559:0.5648	.|.	.|.	.|.	.|.	C|W	1504|1504	ENSP00000357575:R1504C|ENSP00000357571:R1504W	ENSP00000357575:R1504C|ENSP00000357571:R1504W	R|R	-|-	1|1	0|2	C10orf93|C10orf93	134536171|134536171	0.873000|0.873000	0.30073|0.30073	0.106000|0.106000	0.21319|0.21319	0.004000|0.004000	0.04260|0.04260	0.991000|0.991000	0.29654|0.29654	-0.000000|-0.000000	0.14550|0.14550	-0.136000|-0.136000	0.14681|0.14681	CGC|CGG	TTC40	-	NULL		0.478	TTC40-202	KNOWN	basic|appris_candidate	protein_coding	TTC40	HGNC	protein_coding		G			134686181	-1	no_errors	ENST00000368582	ensembl	human	known	70_37	missense	SNP	0.036	A
TTN	7273	genome.wustl.edu	37	2	179485706	179485706	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:179485706C>T	ENST00000591111.1	-	197	40932	c.40708G>A	c.(40708-40710)Gta>Ata	p.V13570I	TTN_ENST00000359218.5_Missense_Mutation_p.V6271I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V6338I|TTN_ENST00000460472.2_Missense_Mutation_p.V6146I|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V12643I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V15211I|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13570	Ig-like 92.				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)	p.V6271I(1)|p.V12643I(1)|p.V6338I(1)|p.V6146I(1)		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)			AGAGGAACTACGATCCTGAGT	0.373																																																	4	Substitution - Missense(4)	NS(4)											67.0	62.0	63.0					2																	179485706		1847	4084	5931	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40708G>A	2.37:g.179485706C>T	ENSP00000465570:p.Val13570Ile		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.V12643I	ENST00000591111.1	37	c.37927		2	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725433	0.30593	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.83	0.928	0.19443	Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.19087	0.0458	N	0.02275	-0.615	0.24786	N	0.992785	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.001;0.003;0.003	T	0.23226	-1.0194	9	0.87932	D	0	.	9.4996	0.39008	0.0:0.3984:0.0:0.6016	.	6146;6271;6338;13570	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	12643;6146;6338;6271;6146	ENSP00000343764:V12643I;ENSP00000434586:V6146I;ENSP00000340554:V6338I;ENSP00000352154:V6271I	ENSP00000340554:V6338I	V	-	1	0	TTN	179193951	0.993000	0.37304	0.994000	0.49952	0.982000	0.71751	0.546000	0.23284	0.136000	0.18733	0.655000	0.94253	GTA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like		0.373	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179485706	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.999	T
TTN	7273	genome.wustl.edu	37	2	179517983	179517983	+	Intron	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:179517983C>G	ENST00000591111.1	-	157	34747				TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E12925Q|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			GGTGGGACTTCAGGCTTTTTA	0.408																																																	0																																										SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34523-715G>C	2.37:g.179517983C>G			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_PPAK_motif,pfam_Titin_Z,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,superfamily_ARM-type_fold,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.E12925Q	ENST00000591111.1	37	c.38773		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179517983	-1	no_errors	ENST00000589042	ensembl	human	putative	70_37	missense	SNP	0.194	G
TUBA1C	84790	genome.wustl.edu	37	12	49663341	49663341	+	Missense_Mutation	SNP	G	G	A	rs542382205		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr12:49663341G>A	ENST00000301072.6	+	2	372	c.97G>A	c.(97-99)Gat>Aat	p.D33N	TUBA1C_ENST00000541364.1_Missense_Mutation_p.D103N|TUBA1C_ENST00000549183.1_Missense_Mutation_p.D33N|RP11-161H23.5_ENST00000550468.2_RNA	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	33					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						CATCCAGCCCGATGGCCAGAT	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		21086	0.001		0.0	False		,,,				2504	0.0																0													88.0	82.0	84.0					12																	49663341		2203	4297	6500	SO:0001583	missense	84790			BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"""Tubulins"""	20768	protein-coding gene	gene with protein product			"""tubulin, alpha 6"""	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.97G>A	12.37:g.49663341G>A	ENSP00000301072:p.Asp33Asn			Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin	p.D33N	ENST00000301072.6	37	c.97	CCDS8782.1	12	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765440	0.49574	.	.	ENSG00000167553	ENST00000541364;ENST00000301072;ENST00000549183;ENST00000321665	T;T;T	0.69685	-0.42;-0.42;-0.42	3.57	2.67	0.31697	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.85682	D	0.000000	T	0.76842	0.4044	M	0.62016	1.91	0.48087	D	0.999584	B;D	0.89917	0.255;1.0	B;D	0.91635	0.26;0.999	T	0.77943	-0.2398	10	0.66056	D	0.02	.	11.0212	0.47720	0.0972:0.0:0.9028:0.0	.	103;33	F5H5D3;Q9BQE3	.;TBA1C_HUMAN	N	103;33;33;33	ENSP00000443475:D103N;ENSP00000301072:D33N;ENSP00000448211:D33N	ENSP00000301072:D33N	D	+	1	0	TUBA1C	47949608	1.000000	0.71417	0.976000	0.42696	0.976000	0.68499	5.441000	0.66569	1.085000	0.41206	0.485000	0.47835	GAT	TUBA1C	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin		0.587	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA1C	HGNC	protein_coding	OTTHUMT00000404424.1	G	NM_032704		49663341	+1	no_errors	ENST00000301072	ensembl	human	known	70_37	missense	SNP	0.997	A
TUBE1	51175	genome.wustl.edu	37	6	112397151	112397151	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:112397151G>A	ENST00000368662.5	-	8	879	c.801C>T	c.(799-801)ctC>ctT	p.L267L	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	267					centrosome cycle (GO:0007098)|protein polymerization (GO:0051258)	microtubule (GO:0005874)|pericentriolar material (GO:0000242)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	Vinblastine(DB00570)	TCGTTAGGTTGAGGAGCAAAT	0.343																																																	0													110.0	115.0	114.0					6																	112397151		2203	4300	6503	SO:0001819	synonymous_variant	51175			AF201334	CCDS5100.1	6q21	2005-11-03			ENSG00000074935	ENSG00000074935		"""Tubulins"""	20775	protein-coding gene	gene with protein product		607345				10620804	Standard	NM_016262		Approved	dJ142L7.2, FLJ22589, TUBE	uc003pvq.3	Q9UJT0	OTTHUMG00000015382	ENST00000368662.5:c.801C>T	6.37:g.112397151G>A			Q5H8W8|Q8NEG3	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Epsilon_tubulin,prints_Tubulin	p.L267	ENST00000368662.5	37	c.801	CCDS5100.1	6																																																																																			TUBE1	-	superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase		0.343	TUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBE1	HGNC	protein_coding	OTTHUMT00000041867.1	G	NM_016262		112397151	-1	no_errors	ENST00000368662	ensembl	human	known	70_37	silent	SNP	0.997	A
UBE2D3	7323	genome.wustl.edu	37	4	103747767	103747767	+	5'UTR	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:103747767C>G	ENST00000453744.2	-	0	412				UBE2D3_ENST00000349311.8_5'UTR|UBE2D3_ENST00000507845.1_5'Flank|UBE2D3_ENST00000394803.5_5'UTR|UBE2D3_ENST00000321805.7_5'UTR|UBE2D3_ENST00000343106.5_5'UTR|UBE2D3_ENST00000502404.1_5'Flank|RP11-10L12.4_ENST00000501133.2_RNA|UBE2D3_ENST00000350435.7_5'Flank|UBE2D3_ENST00000504211.1_5'Flank|UBE2D3_ENST00000357194.6_Intron|UBE2D3_ENST00000513098.1_5'UTR|UBE2D3_ENST00000394804.2_5'UTR|UBE2D3_ENST00000394801.4_5'UTR|UBE2D3_ENST00000338145.3_5'UTR|UBE2D3_ENST00000505207.1_5'Flank	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3						apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		TGTCTCGTCTCACACCAGCTC	0.572																																																	0																																										SO:0001623	5_prime_UTR_variant	7323			U39318	CCDS3659.1, CCDS3660.1, CCDS3661.1, CCDS75172.1	4q24	2011-05-19	2011-05-19		ENSG00000109332	ENSG00000109332		"""Ubiquitin-conjugating enzymes E2"""	12476	protein-coding gene	gene with protein product		602963	"""ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast)"""			8530467	Standard	NM_181886		Approved	UbcH5C	uc003hwl.3	P61077	OTTHUMG00000131119	ENST00000453744.2:c.-102G>C	4.37:g.103747767C>G			A6NJ93|A6NJB1|A6NM99|P47986|Q6IB88|Q6NXS4|Q8N924	RNA	SNP	-	NULL	ENST00000453744.2	37	NULL	CCDS3660.1	4																																																																																			UBE2D3	-	-		0.572	UBE2D3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UBE2D3	HGNC	protein_coding	OTTHUMT00000253791.2	C	NM_181893		103747767	-1	no_errors	ENST00000513098	ensembl	human	known	70_37	rna	SNP	1.000	G
UFD1L	7353	genome.wustl.edu	37	22	19463100	19463100	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr22:19463100G>C	ENST00000263202.10	-	2	158	c.29C>G	c.(28-30)cCt>cGt	p.P10R	UFD1L_ENST00000484101.1_5'UTR|UFD1L_ENST00000399523.1_Missense_Mutation_p.P10R|UFD1L_ENST00000360834.4_Missense_Mutation_p.P10R	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	10					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					CCTGGGAATAGGGTGGTCGAA	0.448																																																	0													129.0	117.0	121.0					22																	19463100		2203	4300	6503	SO:0001583	missense	7353			AJ239058	CCDS13761.1, CCDS33600.1, CCDS33600.2	22q11.2	2014-05-02	2005-10-10		ENSG00000070010	ENSG00000070010			12520	protein-coding gene	gene with protein product		601754	"""ubiquitin fusion degradation 1-like"""			9063746	Standard	NM_005659		Approved	UFD1	uc002zpm.2	Q92890	OTTHUMG00000150130	ENST00000263202.10:c.29C>G	22.37:g.19463100G>C	ENSP00000263202:p.Pro10Arg		A8MW31|Q9Y5N0	Missense_Mutation	SNP	pfam_UFD1	p.P10R	ENST00000263202.10	37	c.29	CCDS13761.1	22	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038428	0.35989	.	.	ENSG00000070010	ENST00000263202;ENST00000360834;ENST00000399523;ENST00000399525;ENST00000421968;ENST00000494054	T;T;T;T;T	0.42131	1.0;1.0;1.01;1.02;0.98	5.72	5.72	0.89469	.	0.098509	0.64402	D	0.000001	T	0.35537	0.0935	L	0.34521	1.04	0.50813	D	0.999894	P;B	0.40731	0.728;0.074	B;B	0.37601	0.254;0.019	T	0.05354	-1.0890	10	0.25106	T	0.35	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	10;10	B4E3I3;Q92890	.;UFD1_HUMAN	R	10;10;10;10;10;5	ENSP00000263202:P10R;ENSP00000354079:P10R;ENSP00000382439:P10R;ENSP00000406680:P10R;ENSP00000418390:P5R	ENSP00000263202:P10R	P	-	2	0	UFD1L	17843100	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.089000	0.64492	2.711000	0.92665	0.655000	0.94253	CCT	UFD1L	-	NULL		0.448	UFD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFD1L	HGNC	protein_coding	OTTHUMT00000316460.6	G			19463100	-1	no_errors	ENST00000263202	ensembl	human	known	70_37	missense	SNP	1.000	C
UNC5C	8633	genome.wustl.edu	37	4	96104152	96104152	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:96104152G>A	ENST00000453304.1	-	14	2695	c.2347C>T	c.(2347-2349)Ctg>Ttg	p.L783L		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	783					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AATCTTTCCAGAGTGAAGGTG	0.458																																																	0													169.0	147.0	155.0					4																	96104152		2203	4300	6503	SO:0001819	synonymous_variant	8633			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2347C>T	4.37:g.96104152G>A			Q8IUT0	Silent	SNP	pfam_ZU5,pfam_Death,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.L783	ENST00000453304.1	37	c.2347	CCDS3643.1	4																																																																																			UNC5C	-	NULL		0.458	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5C	HGNC	protein_coding	OTTHUMT00000253607.1	G	NM_003728		96104152	-1	no_errors	ENST00000453304	ensembl	human	known	70_37	silent	SNP	0.993	A
UNKL	64718	genome.wustl.edu	37	16	1453237	1453237	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:1453237C>T	ENST00000389221.4	-	3	395	c.396G>A	c.(394-396)gtG>gtA	p.V132V	UNKL_ENST00000397462.1_Silent_p.V219V|UNKL_ENST00000503648.1_5'UTR|UNKL_ENST00000301712.5_Silent_p.V132V|UNKL_ENST00000508903.2_Silent_p.V132V	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	132					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				GCCCATTCTTCACGCAGTGGC	0.637																																																	0													235.0	153.0	181.0					16																	1453237		2198	4300	6498	SO:0001819	synonymous_variant	64718			BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"""Zinc fingers, CCCH-type domain containing"""	14184	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 28"", ""unkempt homolog (Drosophila)-like"""	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.396G>A	16.37:g.1453237C>T			B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Silent	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.V219	ENST00000389221.4	37	c.657	CCDS53981.1	16																																																																																			UNKL	-	NULL		0.637	UNKL-201	KNOWN	basic|CCDS	protein_coding	UNKL	HGNC	protein_coding		C	NM_001037125		1453237	-1	no_errors	ENST00000397462	ensembl	human	known	70_37	silent	SNP	1.000	T
UPF1	5976	genome.wustl.edu	37	19	18976551	18976551	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:18976551G>A	ENST00000599848.1	+	22	3443	c.3234G>A	c.(3232-3234)atG>atA	p.M1078I	UPF1_ENST00000262803.5_Missense_Mutation_p.M1067I			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	1078	Gln/Ser-rich.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CTTCCCAGATGAGCCAGCCCG	0.652																																																	0													56.0	61.0	59.0					19																	18976551		2203	4300	6503	SO:0001583	missense	5976			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.3234G>A	19.37:g.18976551G>A	ENSP00000470142:p.Met1078Ile		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom	p.M1078I	ENST00000599848.1	37	c.3234		19	.	.	.	.	.	.	.	.	.	.	g	18.80	3.700444	0.68501	.	.	ENSG00000005007	ENST00000262803	D	0.89485	-2.52	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.83408	0.5248	L	0.29908	0.895	0.80722	D	1	B;B	0.15141	0.012;0.003	B;B	0.13407	0.007;0.009	T	0.78656	-0.2119	10	0.32370	T	0.25	-54.743	16.7116	0.85387	0.0:0.0:1.0:0.0	.	1078;1067	Q92900;Q92900-2	RENT1_HUMAN;.	I	1067	ENSP00000262803:M1067I	ENSP00000262803:M1067I	M	+	3	0	UPF1	18837551	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.591000	0.82666	2.285000	0.76669	0.479000	0.44913	ATG	UPF1	-	NULL		0.652	UPF1-002	KNOWN	basic	protein_coding	UPF1	HGNC	protein_coding	OTTHUMT00000464684.1	G	NM_002911		18976551	+1	no_errors	ENST00000599848	ensembl	human	known	70_37	missense	SNP	1.000	A
USP1	7398	genome.wustl.edu	37	1	62910563	62910563	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:62910563C>G	ENST00000339950.4	+	6	1527	c.712C>G	c.(712-714)Cat>Gat	p.H238D	USP1_ENST00000371146.1_Missense_Mutation_p.H238D	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	238	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AGAAATACCTCATCCGAAAGA	0.353																																					Ovarian(122;1846 2315 3982 19504)												0													79.0	83.0	82.0					1																	62910563		2203	4298	6501	SO:0001583	missense	7398				CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"""Ubiquitin-specific peptidases"""	12607	protein-coding gene	gene with protein product		603478	"""ubiquitin specific protease 1"""			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.712C>G	1.37:g.62910563C>G	ENSP00000343526:p.His238Asp		A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.H238D	ENST00000339950.4	37	c.712	CCDS621.1	1	.	.	.	.	.	.	.	.	.	.	C	3.032	-0.199388	0.06219	.	.	ENSG00000162607	ENST00000371146;ENST00000339950	T;T	0.16897	2.31;2.31	5.27	-0.0605	0.13788	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.180640	0.06000	N	0.647650	T	0.07863	0.0197	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.15870	0.014	T	0.37454	-0.9705	10	0.12430	T	0.62	-0.0518	1.2761	0.02030	0.3885:0.2891:0.0999:0.2225	.	238	O94782	UBP1_HUMAN	D	238	ENSP00000360188:H238D;ENSP00000343526:H238D	ENSP00000343526:H238D	H	+	1	0	USP1	62683151	0.000000	0.05858	0.905000	0.35620	0.821000	0.46438	-0.213000	0.09305	0.060000	0.16281	-0.284000	0.09977	CAT	USP1	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.353	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP1	HGNC	protein_coding	OTTHUMT00000024881.1	C	NM_001017415		62910563	+1	no_errors	ENST00000339950	ensembl	human	known	70_37	missense	SNP	0.006	G
USP21	27005	genome.wustl.edu	37	1	161131810	161131810	+	Intron	SNP	T	T	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:161131810T>G	ENST00000289865.8	+	3	821				USP21_ENST00000368002.3_Intron|RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000368001.1_Intron	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21						histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ACTTGCCGATTGTACTCTGAC	0.498																																																	0													141.0	118.0	126.0					1																	161131810		2203	4300	6503	SO:0001627	intron_variant	27005			AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.601-18T>G	1.37:g.161131810T>G			Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	RNA	SNP	-	NULL	ENST00000289865.8	37	NULL	CCDS30920.1	1																																																																																			USP21	-	-		0.498	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	USP21	HGNC	protein_coding	OTTHUMT00000080801.1	T			161131810	+1	no_errors	ENST00000487163	ensembl	human	known	70_37	rna	SNP	0.014	G
USP35	57558	genome.wustl.edu	37	11	77917022	77917022	+	Missense_Mutation	SNP	C	C	G	rs541470559		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:77917022C>G	ENST00000529308.1	+	7	1593	c.1332C>G	c.(1330-1332)atC>atG	p.I444M	USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Missense_Mutation_p.I175M|USP35_ENST00000530267.1_Missense_Mutation_p.I12M|USP35_ENST00000441408.2_Nonsense_Mutation_p.S29*	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	444	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TTGGTCTCATCAACCTGGGCA	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		18346	0.0		0.0	False		,,,				2504	0.001																0													301.0	307.0	305.0					11																	77917022		2056	4177	6233	SO:0001583	missense	57558			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1332C>G	11.37:g.77917022C>G	ENSP00000431876:p.Ile444Met			Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.S29*	ENST00000529308.1	37	c.86	CCDS41693.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.001007|8.001007	0.98605|0.98605	.|.	.|.	ENSG00000118369|ENSG00000118369	ENST00000530267;ENST00000528910;ENST00000529308;ENST00000526425|ENST00000441408	T;T;T;T|.	0.31769|.	1.48;1.48;1.48;1.48|.	4.7|4.7	3.78|3.78	0.43462|0.43462	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);|.	0.096050|.	0.44483|.	D|.	0.000444|.	T|.	0.33614|.	0.0869|.	L|L	0.39020|0.39020	1.185|1.185	0.80722|0.80722	A|A	1|1	D|.	0.64830|.	0.994|.	D|.	0.66497|.	0.944|.	T|.	0.35051|.	-0.9804|.	9|.	0.32370|0.02654	T|T	0.25|1	-30.6319|-30.6319	8.2094|8.2094	0.31476|0.31476	0.0:0.7667:0.0:0.2333|0.0:0.7667:0.0:0.2333	.|.	444|.	Q9P2H5|.	UBP35_HUMAN|.	M|X	12;200;444;175|29	ENSP00000435468:I12M;ENSP00000436001:I200M;ENSP00000431876:I444M;ENSP00000434942:I175M|.	ENSP00000434942:I175M|ENSP00000400825:S29X	I|S	+|+	3|2	3|0	USP35|USP35	77594670|77594670	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.836000|0.836000	0.47400|0.47400	1.353000|1.353000	0.34045|0.34045	1.164000|1.164000	0.42652|0.42652	0.591000|0.591000	0.81541|0.81541	ATC|TCA	USP35	-	pfscan_Peptidase_C19		0.557	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP35	HGNC	protein_coding	OTTHUMT00000390026.1	C	XM_290527		77917022	+1	no_errors	ENST00000441408	ensembl	human	known	70_37	nonsense	SNP	1.000	G
USP49	25862	genome.wustl.edu	37	6	41771556	41771556	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:41771556C>G	ENST00000394253.3	-	4	1878	c.1549G>C	c.(1549-1551)Gac>Cac	p.D517H	USP49_ENST00000373009.3_Missense_Mutation_p.D517H|USP49_ENST00000373010.1_Missense_Mutation_p.D517H|USP49_ENST00000297229.2_Missense_Mutation_p.D517H|USP49_ENST00000373006.1_Missense_Mutation_p.D517H			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	517	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTACACTGGTCACAAGCGTAG	0.478																																																	0													128.0	121.0	123.0					6																	41771556		2203	4300	6503	SO:0001583	missense	25862			AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.1549G>C	6.37:g.41771556C>G	ENSP00000377797:p.Asp517His		Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.D517H	ENST00000394253.3	37	c.1549		6	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130735	0.56828	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.75477	4.0;4.0;4.0;-0.94;-0.94	5.51	5.51	0.81932	.	0.047582	0.85682	D	0.000000	T	0.82263	0.4999	M	0.62088	1.915	0.50632	D	0.999883	D	0.89917	1.0	D	0.76575	0.988	T	0.79683	-0.1701	10	0.40728	T	0.16	-21.943	19.3778	0.94518	0.0:1.0:0.0:0.0	.	517	Q70CQ1-2	.	H	517	ENSP00000377797:D517H;ENSP00000362101:D517H;ENSP00000362100:D517H;ENSP00000362097:D517H;ENSP00000297229:D517H	ENSP00000297229:D517H	D	-	1	0	USP49	41879534	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.912000	0.63335	2.747000	0.94245	0.650000	0.86243	GAC	USP49	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.478	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	USP49	HGNC	protein_coding	OTTHUMT00000316513.3	C	NM_018561		41771556	-1	no_errors	ENST00000373009	ensembl	human	known	70_37	missense	SNP	1.000	G
VIP	7432	genome.wustl.edu	37	6	153073410	153073410	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:153073410C>A	ENST00000367244.3	+	2	270	c.98C>A	c.(97-99)tCt>tAt	p.S33Y	VIP_ENST00000367243.3_Missense_Mutation_p.S33Y	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	33					body fluid secretion (GO:0007589)|G-protein coupled receptor signaling pathway (GO:0007186)|learning or memory (GO:0007611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of penile erection (GO:0060406)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of vasodilation (GO:0045909)|regulation of protein localization (GO:0032880)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)	extracellular region (GO:0005576)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		AGGGCACCTTCTGCTCTCAGG	0.433																																																	0													122.0	104.0	110.0					6																	153073410		2203	4300	6503	SO:0001583	missense	7432				CCDS5240.1, CCDS5241.1	6q24-q27	2013-02-28			ENSG00000146469	ENSG00000146469		"""Endogenous ligands"""	12693	protein-coding gene	gene with protein product	"""prepro-VIP"""	192320					Standard	NM_003381		Approved		uc003qpe.4	P01282	OTTHUMG00000015851	ENST00000367244.3:c.98C>A	6.37:g.153073410C>A	ENSP00000356213:p.Ser33Tyr		Q5TCY8|Q5TCY9|Q96QK3	Missense_Mutation	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP	p.S33Y	ENST00000367244.3	37	c.98	CCDS5240.1	6	.	.	.	.	.	.	.	.	.	.	C	7.385	0.629679	0.14257	.	.	ENSG00000146469	ENST00000367244;ENST00000367243	T;T	0.24723	1.84;1.84	5.5	3.68	0.42216	.	0.584978	0.19258	N	0.118757	T	0.09024	0.0223	L	0.29908	0.895	0.80722	D	1	B;B;B	0.31054	0.306;0.178;0.112	B;B;B	0.30495	0.054;0.116;0.054	T	0.06180	-1.0841	10	0.87932	D	0	-16.5729	9.8979	0.41329	0.0:0.7823:0.1405:0.0772	.	33;33;33	A8K7E4;P01282-2;P01282	.;.;VIP_HUMAN	Y	33	ENSP00000356213:S33Y;ENSP00000356212:S33Y	ENSP00000356212:S33Y	S	+	2	0	VIP	153115103	0.005000	0.15991	0.006000	0.13384	0.012000	0.07955	1.712000	0.37940	0.657000	0.30906	0.585000	0.79938	TCT	VIP	-	NULL		0.433	VIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VIP	HGNC	protein_coding	OTTHUMT00000042751.1	C			153073410	+1	no_errors	ENST00000367244	ensembl	human	known	70_37	missense	SNP	0.151	A
VPS13C	54832	genome.wustl.edu	37	15	62173101	62173101	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr15:62173101G>A	ENST00000261517.5	-	72	9902	c.9829C>T	c.(9829-9831)Cta>Tta	p.L3277L	VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000249837.3_Silent_p.L3234L|VPS13C_ENST00000395898.3_Silent_p.L3234L|VPS13C_ENST00000395896.4_Silent_p.L3277L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATAGCTCCTAGAAACCCTTGA	0.313																																																	0													57.0	61.0	60.0					15																	62173101		2202	4300	6502	SO:0001819	synonymous_variant	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.9829C>T	15.37:g.62173101G>A				Silent	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.L3277	ENST00000261517.5	37	c.9829	CCDS32257.1	15																																																																																			VPS13C	-	NULL		0.313	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	G	NM_017684		62173101	-1	no_errors	ENST00000261517	ensembl	human	known	70_37	silent	SNP	0.997	A
VPS53	55275	genome.wustl.edu	37	17	455118	455118	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:455118C>T	ENST00000571805.1	-	17	1996	c.1860G>A	c.(1858-1860)atG>atA	p.M620I	VPS53_ENST00000437048.2_Missense_Mutation_p.M620I|VPS53_ENST00000576149.1_5'UTR|RP5-1029F21.2_ENST00000574008.1_RNA|VPS53_ENST00000401468.3_Missense_Mutation_p.M343I|VPS53_ENST00000446250.2_Missense_Mutation_p.M422I|VPS53_ENST00000291074.5_Missense_Mutation_p.M591I|VPS53_ENST00000574029.1_Intron			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	620					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TTACCTTGCTCATGGCAGTCA	0.522																																																	0													74.0	57.0	63.0					17																	455118		2203	4300	6503	SO:0001583	missense	55275				CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1860G>A	17.37:g.455118C>T	ENSP00000459312:p.Met620Ile		A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54	p.M620I	ENST00000571805.1	37	c.1860		17	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955276	0.92726	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074;ENST00000401468	T;T;T;T	0.57273	1.12;1.04;1.06;0.41	5.62	5.62	0.85841	.	0.072630	0.85682	D	0.000000	T	0.62853	0.2462	L	0.58969	1.84	0.80722	D	1	P;P;P;P;P	0.50710	0.846;0.775;0.938;0.751;0.692	P;P;P;P;B	0.51806	0.68;0.58;0.664;0.463;0.421	T	0.61554	-0.7039	10	0.46703	T	0.11	-30.2773	18.9992	0.92826	0.0:1.0:0.0:0.0	.	343;620;422;620;591	E7EVT8;Q5VIR6-4;G3V0H8;Q5VIR6;Q5VIR6-2	.;.;.;VPS53_HUMAN;.	I	620;422;591;343	ENSP00000401435:M620I;ENSP00000394386:M422I;ENSP00000291074:M591I;ENSP00000384294:M343I	ENSP00000291074:M591I	M	-	3	0	VPS53	401868	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.445000	0.80570	2.795000	0.96236	0.655000	0.94253	ATG	VPS53	-	NULL		0.522	VPS53-006	KNOWN	basic	protein_coding	VPS53	HGNC	protein_coding	OTTHUMT00000436940.2	C	NM_018289		455118	-1	no_errors	ENST00000437048	ensembl	human	known	70_37	missense	SNP	1.000	T
VSIG8	391123	genome.wustl.edu	37	1	159827565	159827565	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:159827565G>A	ENST00000368100.1	-	4	757	c.622C>T	c.(622-624)Cag>Tag	p.Q208*	C1orf204_ENST00000368102.1_5'Flank|C1orf204_ENST00000491974.1_5'Flank	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	208	Ig-like V-type 2.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					AAGGACTCCTGGTAGGACAGC	0.587																																																	0													58.0	60.0	59.0					1																	159827565		2203	4300	6503	SO:0001587	stop_gained	391123				CCDS30913.1	1q23.2	2013-01-11			ENSG00000243284	ENSG00000243284		"""Immunoglobulin superfamily / V-set domain containing"""	32063	protein-coding gene	gene with protein product							Standard	NM_001013661		Approved		uc001fuh.3	Q5VU13	OTTHUMG00000168834	ENST00000368100.1:c.622C>T	1.37:g.159827565G>A	ENSP00000357080:p.Gln208*		Q5VU14	Nonsense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like	p.Q208*	ENST00000368100.1	37	c.622	CCDS30913.1	1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699004	0.88830	.	.	ENSG00000243284	ENST00000368100	.	.	.	4.8	3.88	0.44766	.	0.244503	0.40554	N	0.001078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	11.2456	0.48996	0.0:0.1844:0.8156:0.0	.	.	.	.	X	208	.	ENSP00000357080:Q208X	Q	-	1	0	VSIG8	158094189	1.000000	0.71417	0.999000	0.59377	0.849000	0.48306	2.913000	0.48790	1.012000	0.39366	0.561000	0.74099	CAG	VSIG8	-	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.587	VSIG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSIG8	HGNC	protein_coding	OTTHUMT00000085978.8	G	NM_001013661		159827565	-1	no_errors	ENST00000368100	ensembl	human	known	70_37	nonsense	SNP	1.000	A
WAPAL	23063	genome.wustl.edu	37	10	88259793	88259793	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:88259793C>G	ENST00000298767.5	-	3	1679	c.1207G>C	c.(1207-1209)Gat>Cat	p.D403H		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	403	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GTTGCAATATCTGCCTTTTTT	0.383																																																	0													56.0	58.0	58.0					10																	88259793		2203	4300	6503	SO:0001583	missense	23063			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.1207G>C	10.37:g.88259793C>G	ENSP00000298767:p.Asp403His		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	pfam_WAPL_prot,superfamily_ARM-type_fold	p.D488H	ENST00000298767.5	37	c.1462	CCDS7375.1	10	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265133	0.59431	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.34667	1.35	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.58090	0.2098	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.76575	0.927;0.927;0.988	T	0.57940	-0.7724	10	0.62326	D	0.03	.	19.46	0.94914	0.0:1.0:0.0:0.0	.	403;403;446	B2RTX8;Q7Z5K2;Q7Z5K2-2	.;WAPL_HUMAN;.	H	488;403;488	ENSP00000298767:D403H	ENSP00000298767:D403H	D	-	1	0	WAPAL	88249773	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.601000	0.87937	0.650000	0.86243	GAT	WAPAL	-	NULL		0.383	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WAPAL	HGNC	protein_coding	OTTHUMT00000049151.2	C	NM_015045		88259793	-1	no_errors	ENST00000342368	ensembl	human	known	70_37	missense	SNP	1.000	G
VWA2	340706	genome.wustl.edu	37	10	116048748	116048748	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr10:116048748C>T	ENST00000392982.3	+	12	1872	c.1622C>T	c.(1621-1623)tCa>tTa	p.S541L	VWA2_ENST00000603594.1_Missense_Mutation_p.S541L			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	541	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		ACCTCTGCCTCAGTAGGGCCC	0.587																																																	0													79.0	76.0	77.0					10																	116048748		2203	4300	6503	SO:0001583	missense	340706			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1622C>T	10.37:g.116048748C>T	ENSP00000376708:p.Ser541Leu		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A	p.S541L	ENST00000392982.3	37	c.1622		10	.	.	.	.	.	.	.	.	.	.	C	11.69	1.715196	0.30413	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	D	0.91068	-2.78	5.43	5.43	0.79202	von Willebrand factor, type A (3);	0.324879	0.27500	N	0.019083	D	0.95494	0.8536	M	0.93462	3.42	0.26372	N	0.976875	P;P;B	0.48589	0.912;0.58;0.33	P;B;B	0.55785	0.784;0.272;0.178	D	0.91372	0.5120	10	0.87932	D	0	.	13.8907	0.63738	0.0:0.8476:0.1524:0.0	.	237;541;541	Q5GFL6-3;Q5GFL6;Q5GFL6-2	.;VWA2_HUMAN;.	L	541	ENSP00000376708:S541L	ENSP00000298715:S541L	S	+	2	0	VWA2	116038738	0.956000	0.32656	0.814000	0.32528	0.044000	0.14063	4.061000	0.57485	2.547000	0.85894	0.655000	0.94253	TCA	VWA2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.587	VWA2-001	KNOWN	basic|appris_principal	protein_coding	VWA2	HGNC	protein_coding	OTTHUMT00000050456.3	C	NM_198496		116048748	+1	no_errors	ENST00000392982	ensembl	human	known	70_37	missense	SNP	0.868	T
WDPCP	51057	genome.wustl.edu	37	2	63660922	63660922	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:63660922C>G	ENST00000272321.7	-	9	1309	c.782G>C	c.(781-783)aGa>aCa	p.R261T	WDPCP_ENST00000409562.3_Missense_Mutation_p.R261T|WDPCP_ENST00000409199.1_Missense_Mutation_p.R69T|WDPCP_ENST00000409120.1_Missense_Mutation_p.R69T|WDPCP_ENST00000398544.3_Missense_Mutation_p.R102T|WDPCP_ENST00000409835.1_5'UTR	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	261					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TAGATTGGCTCTGTCCTTCTC	0.393																																																	0													67.0	65.0	66.0					2																	63660922		1881	4108	5989	SO:0001583	missense	51057				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.782G>C	2.37:g.63660922C>G	ENSP00000272321:p.Arg261Thr		Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	pfam_DUF3312,superfamily_WD40_repeat_dom	p.R261T	ENST00000272321.7	37	c.782	CCDS42688.1	2	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877892	0.51801	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544;ENST00000409562	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	5.43	2.67	0.31697	.	0.054415	0.64402	D	0.000001	T	0.75598	0.3871	M	0.80746	2.51	0.47476	D	0.999437	D;P;D;D	0.63046	0.981;0.9;0.992;0.976	D;P;D;P	0.65874	0.91;0.553;0.939;0.853	T	0.75241	-0.3387	10	0.87932	D	0	-2.2236	9.4484	0.38712	0.0:0.7719:0.0:0.2281	.	69;261;261;102	E9PFG9;O95876-2;O95876;O95876-3	.;.;FRITZ_HUMAN;.	T	261;69;69;102;261	ENSP00000272321:R261T;ENSP00000386592:R69T;ENSP00000386769:R69T;ENSP00000381552:R102T;ENSP00000387222:R261T	ENSP00000272321:R261T	R	-	2	0	WDPCP	63514426	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.174000	0.58256	0.278000	0.22164	0.563000	0.77884	AGA	WDPCP	-	pfam_DUF3312		0.393	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WDPCP	HGNC	protein_coding	OTTHUMT00000326820.1	C	NM_015910		63660922	-1	no_errors	ENST00000272321	ensembl	human	known	70_37	missense	SNP	1.000	G
CFAP57	149465	genome.wustl.edu	37	1	43647299	43647299	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:43647299C>T	ENST00000372492.4	+	3	576	c.252C>T	c.(250-252)atC>atT	p.I84I	WDR65_ENST00000528956.1_Silent_p.I84I	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		84										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AACCTGCCATCACCATTTATG	0.453																																																	0													120.0	110.0	113.0					1																	43647299		2203	4300	6503	SO:0001819	synonymous_variant	149465																														ENST00000372492.4:c.252C>T	1.37:g.43647299C>T			A6NKQ3|Q17RI9|Q5TAI0	Silent	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I84	ENST00000372492.4	37	c.252		1																																																																																			WDR65	-	superfamily_WD40_repeat_dom		0.453	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	WDR65	HGNC	protein_coding	OTTHUMT00000384325.1	C			43647299	+1	no_errors	ENST00000528956	ensembl	human	known	70_37	silent	SNP	1.000	T
WDR3	10885	genome.wustl.edu	37	1	118485082	118485082	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:118485082G>C	ENST00000349139.5	+	10	1059	c.1012G>C	c.(1012-1014)Gag>Cag	p.E338Q		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	338						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CAAAGGAGAGGAGGAAGATCC	0.358																																																	0													90.0	92.0	91.0					1																	118485082		2203	4300	6503	SO:0001583	missense	10885			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.1012G>C	1.37:g.118485082G>C	ENSP00000308179:p.Glu338Gln			Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E338Q	ENST00000349139.5	37	c.1012	CCDS898.1	1	.	.	.	.	.	.	.	.	.	.	G	9.024	0.985527	0.18889	.	.	ENSG00000065183	ENST00000349139	T	0.55930	0.49	5.3	3.32	0.38043	WD40-repeat-containing domain (1);	0.212304	0.48767	D	0.000178	T	0.21267	0.0512	L	0.31476	0.935	0.80722	D	1	B	0.13594	0.008	B	0.06405	0.002	T	0.06303	-1.0834	10	0.24483	T	0.36	-19.2248	11.4432	0.50109	0.0706:0.1259:0.8035:0.0	.	338	Q9UNX4	WDR3_HUMAN	Q	338	ENSP00000308179:E338Q	ENSP00000308179:E338Q	E	+	1	0	WDR3	118286605	1.000000	0.71417	0.846000	0.33378	0.011000	0.07611	2.948000	0.49066	1.367000	0.46095	-0.142000	0.14014	GAG	WDR3	-	pfscan_WD40_repeat_dom		0.358	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR3	HGNC	protein_coding	OTTHUMT00000033720.2	G	NM_006784		118485082	+1	no_errors	ENST00000349139	ensembl	human	known	70_37	missense	SNP	0.996	C
WIZ	58525	genome.wustl.edu	37	19	15540852	15540852	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:15540852C>T	ENST00000389282.4	-	5	2858	c.2645G>A	c.(2644-2646)cGa>cAa	p.R882Q	WIZ_ENST00000545156.1_Missense_Mutation_p.R63Q|WIZ_ENST00000599686.3_Missense_Mutation_p.R66Q|WIZ_ENST00000599910.2_Missense_Mutation_p.R66Q|WIZ_ENST00000263381.7_Intron			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	882					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CAGGCCCTTTCGGGTCTCAAA	0.677																																																	0																																										SO:0001583	missense	58525			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.2645G>A	19.37:g.15540852C>T	ENSP00000373933:p.Arg882Gln		B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R882Q	ENST00000389282.4	37	c.2645		19	.	.	.	.	.	.	.	.	.	.	C	34	5.342639	0.95783	.	.	ENSG00000011451	ENST00000389282;ENST00000416927;ENST00000545156	T;T	0.28666	1.6;1.6	4.71	4.71	0.59529	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.51477	D	0.000082	T	0.54838	0.1883	.	.	.	0.34017	D	0.652242	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.66826	-0.5825	9	0.42905	T	0.14	-21.5652	16.463	0.84070	0.0:1.0:0.0:0.0	.	882;66	O95785;B3KVH1	WIZ_HUMAN;.	Q	882;66;63	ENSP00000373933:R882Q;ENSP00000445824:R63Q	ENSP00000373933:R882Q	R	-	2	0	WIZ	15401852	0.996000	0.38824	1.000000	0.80357	0.981000	0.71138	2.926000	0.48892	2.185000	0.69588	0.491000	0.48974	CGA	WIZ	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.677	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	HGNC	protein_coding		C	NM_021241		15540852	-1	no_errors	ENST00000389282	ensembl	human	known	70_37	missense	SNP	1.000	T
WDR87	83889	genome.wustl.edu	37	19	38380843	38380843	+	Silent	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:38380843G>C	ENST00000303868.5	-	6	3575	c.3351C>G	c.(3349-3351)ctC>ctG	p.L1117L	WDR87_ENST00000447313.2_Silent_p.L1156L	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	1117										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						CATCCTCTAAGAGGCCTGGCT	0.483																																																	0													25.0	19.0	21.0					19																	38380843		692	1586	2278	SO:0001819	synonymous_variant	83889			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.3351C>G	19.37:g.38380843G>C			Q9BWV9	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1156	ENST00000303868.5	37	c.3468	CCDS46063.1	19																																																																																			WDR87	-	superfamily_ARM-type_fold		0.483	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	G	XM_940478		38380843	-1	no_errors	ENST00000447313	ensembl	human	known	70_37	silent	SNP	0.000	C
WNT3A	89780	genome.wustl.edu	37	1	228194835	228194835	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:228194835C>T	ENST00000284523.1	+	1	84	c.6C>T	c.(4-6)gcC>gcT	p.A2A	WNT3A_ENST00000366753.2_Silent_p.A2A	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	2					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CGGCGATGGCCCCACTCGGAT	0.736																																																	0													24.0	21.0	22.0					1																	228194835		2200	4299	6499	SO:0001819	synonymous_variant	89780			AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.6C>T	1.37:g.228194835C>T			Q3SY79|Q3SY80|Q969P2	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3	p.A2	ENST00000284523.1	37	c.6	CCDS1564.1	1																																																																																			WNT3A	-	NULL		0.736	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT3A	HGNC	protein_coding	OTTHUMT00000091648.1	C	NM_033131		228194835	+1	no_errors	ENST00000366753	ensembl	human	known	70_37	silent	SNP	0.545	T
WWC2	80014	genome.wustl.edu	37	4	184169899	184169899	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr4:184169899G>C	ENST00000403733.3	+	7	964	c.765G>C	c.(763-765)ttG>ttC	p.L255F	WWC2_ENST00000378925.3_Missense_Mutation_p.L157F|WWC2_ENST00000513834.1_Missense_Mutation_p.L255F|WWC2_ENST00000448232.2_Missense_Mutation_p.L255F|WWC2_ENST00000504005.1_Intron	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	255					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GGTTTCATTTGGATCAGAACA	0.438																																																	0													80.0	76.0	77.0					4																	184169899		2203	4300	6503	SO:0001583	missense	80014			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.765G>C	4.37:g.184169899G>C	ENSP00000384222:p.Leu255Phe		Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.L255F	ENST00000403733.3	37	c.765	CCDS34109.2	4	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290658	0.59976	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232	T;T;T;T	0.12465	3.46;2.68;3.47;3.33	5.65	5.65	0.86999	.	0.110120	0.37809	N	0.001939	T	0.15696	0.0378	L	0.51422	1.61	0.42647	D	0.99343	P	0.46706	0.883	P	0.45971	0.499	T	0.01165	-1.1431	10	0.56958	D	0.05	-6.39	5.7859	0.18333	0.1504:0.0:0.6749:0.1747	.	255	Q6AWC2	WWC2_HUMAN	F	255;157;255;255	ENSP00000384222:L255F;ENSP00000368205:L157F;ENSP00000425054:L255F;ENSP00000398577:L255F	ENSP00000368205:L157F	L	+	3	2	WWC2	184406893	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.877000	0.39598	2.652000	0.90054	0.650000	0.86243	TTG	WWC2	-	NULL		0.438	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC2	HGNC	protein_coding	OTTHUMT00000319608.1	G	NM_024949		184169899	+1	no_errors	ENST00000448232	ensembl	human	known	70_37	missense	SNP	1.000	C
XIRP2	129446	genome.wustl.edu	37	2	168106692	168106692	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:168106692G>A	ENST00000409195.1	+	9	8879	c.8790G>A	c.(8788-8790)gtG>gtA	p.V2930V	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.V2930V|XIRP2_ENST00000409273.1_Silent_p.V2708V|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2755					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTCCTCTGTGAAAGAATCCC	0.378																																																	0													83.0	80.0	81.0					2																	168106692		1828	4077	5905	SO:0001819	synonymous_variant	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8790G>A	2.37:g.168106692G>A			A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.V2930	ENST00000409195.1	37	c.8790	CCDS42769.1	2																																																																																			XIRP2	-	NULL		0.378	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	G	NM_152381		168106692	+1	no_errors	ENST00000295237	ensembl	human	known	70_37	silent	SNP	0.454	A
XKR8	55113	genome.wustl.edu	37	1	28293330	28293330	+	Silent	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:28293330C>G	ENST00000373884.5	+	3	1415	c.807C>G	c.(805-807)ctC>ctG	p.L269L		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	269					engulfment of apoptotic cell (GO:0043652)|phosphatidylserine exposure on apoptotic cell surface (GO:0070782)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		CCACCATCCTCTATTTCTCCT	0.627																																																	0													23.0	24.0	23.0					1																	28293330		2203	4300	6503	SO:0001819	synonymous_variant	55113			AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156			25508	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 8"""			12477932	Standard	NM_018053		Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.807C>G	1.37:g.28293330C>G				Silent	SNP	pfam_Transport_prot_XK	p.L269	ENST00000373884.5	37	c.807	CCDS315.1	1																																																																																			XKR8	-	pfam_Transport_prot_XK		0.627	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR8	HGNC	protein_coding	OTTHUMT00000011175.1	C	NM_018053		28293330	+1	no_errors	ENST00000373884	ensembl	human	known	70_37	silent	SNP	1.000	G
XKR8	55113	genome.wustl.edu	37	1	28293345	28293345	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:28293345C>T	ENST00000373884.5	+	3	1430	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	274					engulfment of apoptotic cell (GO:0043652)|phosphatidylserine exposure on apoptotic cell surface (GO:0070782)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		TCTCCTGGTTCAACGTGGCTG	0.622																																																	0													24.0	25.0	25.0					1																	28293345		2203	4300	6503	SO:0001819	synonymous_variant	55113			AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156			25508	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 8"""			12477932	Standard	NM_018053		Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.822C>T	1.37:g.28293345C>T				Silent	SNP	pfam_Transport_prot_XK	p.F274	ENST00000373884.5	37	c.822	CCDS315.1	1																																																																																			XKR8	-	pfam_Transport_prot_XK		0.622	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR8	HGNC	protein_coding	OTTHUMT00000011175.1	C	NM_018053		28293345	+1	no_errors	ENST00000373884	ensembl	human	known	70_37	silent	SNP	1.000	T
YWHAQ	10971	genome.wustl.edu	37	2	9770573	9770573	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:9770573C>G	ENST00000381844.4	-	1	172	c.9G>C	c.(7-9)aaG>aaC	p.K3N	YWHAQ_ENST00000238081.3_Missense_Mutation_p.K3N			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta	3					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|protein complex (GO:0043234)	protein N-terminus binding (GO:0047485)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		TCAGCTCAGTCTTCTCCATgg	0.726																																																	0													18.0	18.0	18.0					2																	9770573		2202	4299	6501	SO:0001583	missense	10971			AF070556	CCDS1666.1	2p25.2-p25.1	2013-12-03	2013-12-03		ENSG00000134308	ENSG00000134308			12854	protein-coding gene	gene with protein product	"""protein tau"""	609009	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide"""			11080204	Standard	NM_006826		Approved	HS1, 14-3-3	uc002qzx.3	P27348	OTTHUMG00000013848	ENST00000381844.4:c.9G>C	2.37:g.9770573C>G	ENSP00000371267:p.Lys3Asn		D6W4Z5|Q567U5|Q5TZU8|Q9UP48	Missense_Mutation	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.K3N	ENST00000381844.4	37	c.9	CCDS1666.1	2	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740403	0.69304	.	.	ENSG00000134308	ENST00000238081;ENST00000381844;ENST00000539979;ENST00000446619	T;T	0.51325	0.71;0.71	5.2	5.2	0.72013	14-3-3 domain (3);	0.073025	0.53938	D	0.000058	T	0.56337	0.1978	M	0.77820	2.39	0.49798	D	0.99982	B	0.29590	0.25	B	0.33960	0.173	T	0.61715	-0.7006	10	0.87932	D	0	.	18.7305	0.91733	0.0:1.0:0.0:0.0	.	3	P27348	1433T_HUMAN	N	3	ENSP00000238081:K3N;ENSP00000371267:K3N	ENSP00000238081:K3N	K	-	3	2	YWHAQ	9688024	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.506000	0.45433	2.412000	0.81896	0.491000	0.48974	AAG	YWHAQ	-	superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3		0.726	YWHAQ-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YWHAQ	HGNC	protein_coding	OTTHUMT00000039014.4	C	NM_006826		9770573	-1	no_errors	ENST00000238081	ensembl	human	known	70_37	missense	SNP	1.000	G
ZBBX	79740	genome.wustl.edu	37	3	167051682	167051682	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:167051682G>C	ENST00000392766.2	-	10	960	c.620C>G	c.(619-621)tCt>tGt	p.S207C	ZBBX_ENST00000392764.1_Missense_Mutation_p.S178C|ZBBX_ENST00000392767.2_Missense_Mutation_p.S207C|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000307529.5_Missense_Mutation_p.S207C|ZBBX_ENST00000455345.2_Missense_Mutation_p.S207C	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	207						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTCCTTTGTAGAATTATTCTC	0.338																																																	0													146.0	132.0	137.0					3																	167051682		1816	4079	5895	SO:0001583	missense	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.620C>G	3.37:g.167051682G>C	ENSP00000376519:p.Ser207Cys		A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	pfam_Znf_B-box	p.S207C	ENST00000392766.2	37	c.620	CCDS3199.2	3	.	.	.	.	.	.	.	.	.	.	G	14.56	2.573233	0.45902	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.11930	2.9;2.9;2.89;2.89;2.73	5.03	2.77	0.32553	.	0.891183	0.09020	U	0.860352	T	0.13200	0.0320	L	0.51422	1.61	0.09310	N	1	B;B	0.17038	0.02;0.012	B;B	0.17098	0.017;0.007	T	0.26985	-1.0087	10	0.52906	T	0.07	-1.2013	4.4135	0.11445	0.1489:0.2272:0.6239:0.0	.	207;207	A8MT70-2;A8MT70	.;ZBBX_HUMAN	C	207;207;207;207;178	ENSP00000376519:S207C;ENSP00000376520:S207C;ENSP00000390232:S207C;ENSP00000305065:S207C;ENSP00000376517:S178C	ENSP00000305065:S207C	S	-	2	0	ZBBX	168534376	0.024000	0.19004	0.003000	0.11579	0.018000	0.09664	1.505000	0.35736	1.197000	0.43143	0.650000	0.86243	TCT	ZBBX	-	NULL		0.338	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	HGNC	protein_coding	OTTHUMT00000257657.3	G	NM_024687		167051682	-1	no_errors	ENST00000307529	ensembl	human	known	70_37	missense	SNP	0.001	C
ZBTB41	360023	genome.wustl.edu	37	1	197128511	197128511	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:197128511G>C	ENST00000367405.4	-	10	2776	c.2708C>G	c.(2707-2709)tCt>tGt	p.S903C	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	903					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CTCATTCGTAGAAATATTTTG	0.373																																																	0													104.0	104.0	104.0					1																	197128511		2203	4299	6502	SO:0001583	missense	360023				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.2708C>G	1.37:g.197128511G>C	ENSP00000356375:p.Ser903Cys		A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S903C	ENST00000367405.4	37	c.2708	CCDS30960.1	1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098127	0.37048	.	.	ENSG00000177888	ENST00000367405	T	0.07327	3.2	5.63	4.71	0.59529	.	0.169904	0.27668	N	0.018345	T	0.06234	0.0161	N	0.19112	0.55	0.38483	D	0.947767	B	0.02656	0.0	B	0.01281	0.0	T	0.26189	-1.0110	10	0.45353	T	0.12	.	10.2347	0.43275	0.0712:0.1366:0.7922:0.0	.	903	Q5SVQ8	ZBT41_HUMAN	C	903	ENSP00000356375:S903C	ENSP00000356375:S903C	S	-	2	0	ZBTB41	195395134	1.000000	0.71417	0.014000	0.15608	0.818000	0.46254	7.282000	0.78630	1.358000	0.45922	0.591000	0.81541	TCT	ZBTB41	-	NULL		0.373	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB41	HGNC	protein_coding	OTTHUMT00000088249.2	G	NM_194314		197128511	-1	no_errors	ENST00000367405	ensembl	human	known	70_37	missense	SNP	0.958	C
ZC3H14	79882	genome.wustl.edu	37	14	89075708	89075708	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:89075708C>T	ENST00000251038.5	+	14	2191	c.1966C>T	c.(1966-1968)Cat>Tat	p.H656Y	ZC3H14_ENST00000555755.1_Missense_Mutation_p.H651Y|ZC3H14_ENST00000359301.3_Missense_Mutation_p.H491Y|ZC3H14_ENST00000393514.5_Missense_Mutation_p.H631Y|ZC3H14_ENST00000406216.3_Missense_Mutation_p.H202Y|ZC3H14_ENST00000302216.8_Missense_Mutation_p.H500Y|ZC3H14_ENST00000557607.1_Missense_Mutation_p.H345Y|ZC3H14_ENST00000555900.1_Missense_Mutation_p.H358Y|ZC3H14_ENST00000318308.6_Missense_Mutation_p.H227Y|ZC3H14_ENST00000556945.1_Missense_Mutation_p.H525Y|ZC3H14_ENST00000336693.4_Missense_Mutation_p.H491Y	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	656						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TCCCTTCACTCATGTGAGTAG	0.368																																																	0													128.0	114.0	119.0					14																	89075708		2203	4300	6503	SO:0001583	missense	79882			AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1966C>T	14.37:g.89075708C>T	ENSP00000251038:p.His656Tyr		A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	smart_Znf_CCCH	p.H656Y	ENST00000251038.5	37	c.1966	CCDS32133.1	14	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141120	0.77775	.	.	ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000557607;ENST00000555755;ENST00000393514;ENST00000336693;ENST00000318308;ENST00000555900;ENST00000406216;ENST00000555792	.	.	.	5.78	5.78	0.91487	.	0.049092	0.85682	D	0.000000	D	0.89378	0.6698	H	0.94886	3.595	0.58432	D	0.999997	D;D;D;D;D;P;D;D	0.89917	1.0;1.0;0.998;0.999;1.0;0.808;1.0;0.999	D;D;D;D;D;P;D;D	0.91635	0.997;0.999;0.993;0.999;0.999;0.46;0.999;0.999	D	0.91553	0.5258	9	0.87932	D	0	-16.0351	20.0203	0.97492	0.0:1.0:0.0:0.0	.	525;506;651;656;202;227;500;656	G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-8;Q6PJT7-6;Q6PJT7-3;Q6PJT7	.;.;.;.;.;.;.;ZC3HE_HUMAN	Y	656;631;593;491;500;506;525;345;651;631;491;227;358;202;60	.	ENSP00000251038:H656Y	H	+	1	0	ZC3H14	88145461	1.000000	0.71417	0.997000	0.53966	0.516000	0.34256	7.453000	0.80700	2.730000	0.93505	0.655000	0.94253	CAT	ZC3H14	-	NULL		0.368	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	ZC3H14	HGNC	protein_coding	OTTHUMT00000410387.1	C	NM_024824		89075708	+1	no_errors	ENST00000251038	ensembl	human	known	70_37	missense	SNP	1.000	T
ZCCHC13	389874	genome.wustl.edu	37	X	73524431	73524431	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chrX:73524431G>C	ENST00000339534.2	+	1	407	c.330G>C	c.(328-330)caG>caC	p.Q110H		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	110							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						AGAAAGAGCAGAAATGCTACT	0.517																																																	0													96.0	76.0	83.0					X																	73524431		2203	4300	6503	SO:0001583	missense	389874			BC021176	CCDS14425.1	Xq13.2	2008-02-05			ENSG00000187969	ENSG00000187969		"""Zinc fingers, CCHC domain containing"""	31749	protein-coding gene	gene with protein product							Standard	NM_203303		Approved	4930513O09RIK, Cnbp2, ZNF9L	uc004ebs.4	Q8WW36	OTTHUMG00000021851	ENST00000339534.2:c.330G>C	X.37:g.73524431G>C	ENSP00000345633:p.Gln110His			Missense_Mutation	SNP	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.Q110H	ENST00000339534.2	37	c.330	CCDS14425.1	X	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033348	0.35893	.	.	ENSG00000187969	ENST00000339534	.	.	.	4.32	2.57	0.30868	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (1);	0.181389	0.36703	U	0.002447	T	0.47673	0.1458	L	0.54323	1.7	0.44587	D	0.997552	P	0.35542	0.508	B	0.32724	0.151	T	0.47262	-0.9131	9	0.72032	D	0.01	.	8.0107	0.30351	0.2095:0.0:0.7905:0.0	.	110	Q8WW36	ZCH13_HUMAN	H	110	.	ENSP00000345633:Q110H	Q	+	3	2	ZCCHC13	73441156	1.000000	0.71417	0.973000	0.42090	0.379000	0.30106	1.213000	0.32407	0.591000	0.29711	0.529000	0.55759	CAG	ZCCHC13	-	pfam_Znf_CCHC,superfamily_Znf_CCHC		0.517	ZCCHC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC13	HGNC	protein_coding	OTTHUMT00000057260.1	G	NM_203303		73524431	+1	no_errors	ENST00000339534	ensembl	human	known	70_37	missense	SNP	1.000	C
ZFYVE26	23503	genome.wustl.edu	37	14	68251080	68251080	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr14:68251080G>A	ENST00000347230.4	-	20	3735	c.3597C>T	c.(3595-3597)ctC>ctT	p.L1199L	ZFYVE26_ENST00000555452.1_Silent_p.L1199L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1199					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCTCAAACAGGAGATGTGACA	0.488																																																	0													220.0	201.0	207.0					14																	68251080		2203	4300	6503	SO:0001819	synonymous_variant	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.3597C>T	14.37:g.68251080G>A			B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.L1199	ENST00000347230.4	37	c.3597	CCDS9788.1	14																																																																																			ZFYVE26	-	NULL		0.488	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2	G	NM_015346		68251080	-1	no_errors	ENST00000347230	ensembl	human	known	70_37	silent	SNP	0.998	A
ZFYVE9	9372	genome.wustl.edu	37	1	52810485	52810485	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:52810485C>T	ENST00000371591.1	+	17	4116	c.3985C>T	c.(3985-3987)Cct>Tct	p.P1329S	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.P1270S|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.P1329S	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1329					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CCTCAGTGATCCTGCAGATCA	0.428																																																	0													143.0	113.0	124.0					1																	52810485		2203	4300	6503	SO:0001583	missense	9372			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.3985C>T	1.37:g.52810485C>T	ENSP00000360647:p.Pro1329Ser		Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.P1329S	ENST00000371591.1	37	c.3985	CCDS563.1	1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336350	0.60963	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.39406	1.17;1.08;1.08	5.16	5.16	0.70880	Domain of unknown function DUF3480 (1);	0.159620	0.56097	D	0.000028	T	0.47303	0.1438	N	0.17800	0.525	0.80722	D	1	D;P	0.89917	1.0;0.683	D;B	0.91635	0.999;0.306	T	0.19910	-1.0291	10	0.07644	T	0.81	.	18.4472	0.90688	0.0:1.0:0.0:0.0	.	1270;1329	O95405-2;O95405	.;ZFYV9_HUMAN	S	1270;1329;1329	ENSP00000349737:P1270S;ENSP00000287727:P1329S;ENSP00000360647:P1329S	ENSP00000287727:P1329S	P	+	1	0	ZFYVE9	52583073	1.000000	0.71417	0.980000	0.43619	0.998000	0.95712	4.659000	0.61504	2.676000	0.91093	0.655000	0.94253	CCT	ZFYVE9	-	pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin		0.428	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	HGNC	protein_coding	OTTHUMT00000022083.1	C	NM_007324		52810485	+1	no_errors	ENST00000287727	ensembl	human	known	70_37	missense	SNP	1.000	T
ZHX3	23051	genome.wustl.edu	37	20	39832880	39832880	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr20:39832880C>T	ENST00000309060.3	-	4	1092	c.677G>A	c.(676-678)aGa>aAa	p.R226K	ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Missense_Mutation_p.R226K|ZHX3_ENST00000544979.2_Missense_Mutation_p.R226K|ZHX3_ENST00000559234.1_Missense_Mutation_p.R226K|ZHX3_ENST00000560361.1_Missense_Mutation_p.R226K|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.R226K			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	226					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GTCCCCCTCTCTCACCTCCAT	0.537																																																	0													131.0	119.0	123.0					20																	39832880		2203	4300	6503	SO:0001583	missense	23051			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.677G>A	20.37:g.39832880C>T	ENSP00000312222:p.Arg226Lys		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain	p.R226K	ENST00000309060.3	37	c.677	CCDS13315.1	20	.	.	.	.	.	.	.	.	.	.	C	3.097	-0.185588	0.06340	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262;ENST00000432768	T;T;T;T;T	0.27256	1.68;3.09;3.09;2.87;1.68	6.07	4.97	0.65823	.	0.187320	0.56097	N	0.000033	T	0.04861	0.0131	N	0.00104	-2.125	0.26193	N	0.979566	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.32877	-0.9890	10	0.02654	T	1	-14.4692	11.5152	0.50518	0.0:0.0707:0.0:0.9293	.	226;226;226	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	K	226;226;226;226;4;226	ENSP00000312222:R226K;ENSP00000362360:R226K;ENSP00000442290:R226K;ENSP00000443783:R226K;ENSP00000415498:R226K	ENSP00000312222:R226K	R	-	2	0	ZHX3	39266294	1.000000	0.71417	0.983000	0.44433	0.115000	0.19883	4.592000	0.61027	1.126000	0.42016	-0.302000	0.09304	AGA	ZHX3	-	NULL		0.537	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZHX3	HGNC	protein_coding	OTTHUMT00000079262.3	C	NM_015035		39832880	-1	no_errors	ENST00000373263	ensembl	human	known	70_37	missense	SNP	0.997	T
ZIC1	7545	genome.wustl.edu	37	3	147130364	147130364	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr3:147130364G>A	ENST00000282928.4	+	2	1771	c.1042G>A	c.(1042-1044)Gac>Aac	p.D348N		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	348					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D348N(2)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TAACAGCAGCGACCGCAAGAA	0.532																																																	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)											123.0	101.0	109.0					3																	147130364		2203	4300	6503	SO:0001583	missense	7545			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1042G>A	3.37:g.147130364G>A	ENSP00000282928:p.Asp348Asn		Q2M3N1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D348N	ENST00000282928.4	37	c.1042	CCDS3136.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.101396	0.94245	.	.	ENSG00000152977	ENST00000282928	T	0.07567	3.18	3.48	3.48	0.39840	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.12050	0.0293	N	0.17248	0.465	0.80722	D	1	D	0.54047	0.964	P	0.55999	0.789	T	0.17592	-1.0364	10	0.87932	D	0	.	15.1592	0.72767	0.0:0.0:1.0:0.0	.	348	Q15915	ZIC1_HUMAN	N	348	ENSP00000282928:D348N	ENSP00000282928:D348N	D	+	1	0	ZIC1	148613054	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.515000	0.98015	1.772000	0.52199	0.462000	0.41574	GAC	ZIC1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.532	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC1	HGNC	protein_coding	OTTHUMT00000355497.1	G	NM_003412		147130364	+1	no_errors	ENST00000282928	ensembl	human	known	70_37	missense	SNP	1.000	A
ZMYM4	9202	genome.wustl.edu	37	1	35853072	35853072	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr1:35853072C>T	ENST00000314607.6	+	13	2210	c.2130C>T	c.(2128-2130)ttC>ttT	p.F710F	ZMYM4_ENST00000373297.2_Silent_p.F621F	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	710					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGTTTCAGTTCTGTGGCAAGA	0.299																																																	0													55.0	60.0	58.0					1																	35853072		2203	4300	6503	SO:0001819	synonymous_variant	9202			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.2130C>T	1.37:g.35853072C>T			A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Silent	SNP	pfam_DUF3504,pfam_Znf_MYM,smart_TRASH	p.F710	ENST00000314607.6	37	c.2130	CCDS389.1	1																																																																																			ZMYM4	-	pfam_Znf_MYM,smart_TRASH		0.299	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM4	HGNC	protein_coding	OTTHUMT00000012207.3	C	NM_005095		35853072	+1	no_errors	ENST00000314607	ensembl	human	known	70_37	silent	SNP	1.000	T
ZNF154	7710	genome.wustl.edu	37	19	58214145	58214145	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:58214145G>A	ENST00000512439.2	-	3	368	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF154_ENST00000426889.1_Nonsense_Mutation_p.Q58*			Q13106	ZN154_HUMAN	zinc finger protein 154	58	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGCTGCTTCTGATGATGAACA	0.468																																																	0													40.0	38.0	38.0					19																	58214145		1905	4134	6039	SO:0001587	stop_gained	7710			U20648	CCDS42639.1	19q13.4	2013-01-08	2006-08-22		ENSG00000179909	ENSG00000179909		"""Zinc fingers, C2H2-type"", ""-"""	12939	protein-coding gene	gene with protein product		604085	"""zinc finger protein 154 (pHZ-92)"""			7557990	Standard	XR_243957		Approved	pHZ-92	uc010euf.3	Q13106	OTTHUMG00000140375	ENST00000512439.2:c.172C>T	19.37:g.58214145G>A	ENSP00000421258:p.Gln58*		A7MCY3|Q8IVG7|Q8NAR0	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.Q58*	ENST00000512439.2	37	c.172	CCDS42639.1	19	.	.	.	.	.	.	.	.	.	.	G	19.47	3.832787	0.71258	.	.	ENSG00000179909	ENST00000512439;ENST00000426889	.	.	.	3.17	1.73	0.24493	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	7.0538	0.25087	0.1988:0.0:0.8012:0.0	.	.	.	.	X	58	.	ENSP00000442370:Q58X	Q	-	1	0	ZNF154	62905957	0.000000	0.05858	0.002000	0.10522	0.078000	0.17371	0.470000	0.22084	0.605000	0.29947	0.555000	0.69702	CAG	ZNF154	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.468	ZNF154-002	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZNF154	HGNC	protein_coding	OTTHUMT00000277102.2	G			58214145	-1	no_errors	ENST00000426889	ensembl	human	known	70_37	nonsense	SNP	0.002	A
ZNF18	7566	genome.wustl.edu	37	17	11881615	11881615	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:11881615G>A	ENST00000322748.3	-	9	1913	c.1309C>T	c.(1309-1311)Cag>Tag	p.Q437*	ZNF18_ENST00000580306.2_Nonsense_Mutation_p.Q437*|RP11-1096G20.5_ENST00000580270.1_RNA|ZNF18_ENST00000454073.3_Nonsense_Mutation_p.Q436*	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	437					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		ATGGTGCACTGAAAGTATGTC	0.478																																																	0													65.0	72.0	70.0					17																	11881615		2203	4300	6503	SO:0001587	stop_gained	7566			X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.1309C>T	17.37:g.11881615G>A	ENSP00000315664:p.Gln437*		Q5QHQ3|Q8IYC4|Q8NAH6	Nonsense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.Q437*	ENST00000322748.3	37	c.1309	CCDS32568.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.449349	0.97577	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	.	.	.	5.84	4.81	0.61882	.	0.127017	0.36234	N	0.002718	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.729	6.8556	0.24038	0.0858:0.0:0.739:0.1752	.	.	.	.	X	437	.	ENSP00000315664:Q437X	Q	-	1	0	ZNF18	11822340	0.000000	0.05858	1.000000	0.80357	0.984000	0.73092	-1.213000	0.02991	2.763000	0.94921	0.557000	0.71058	CAG	ZNF18	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.478	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF18	HGNC	protein_coding	OTTHUMT00000441450.2	G	XM_085596		11881615	-1	no_errors	ENST00000322748	ensembl	human	known	70_37	nonsense	SNP	0.598	A
ZNF18	7566	genome.wustl.edu	37	17	11881897	11881897	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr17:11881897G>C	ENST00000322748.3	-	9	1631	c.1027C>G	c.(1027-1029)Ctc>Gtc	p.L343V	ZNF18_ENST00000580306.2_Missense_Mutation_p.L343V|RP11-1096G20.5_ENST00000580270.1_RNA|ZNF18_ENST00000454073.3_Missense_Mutation_p.L342V	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	343					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		GCCTCAGGGAGATTCTCTCCT	0.498																																																	0													137.0	147.0	144.0					17																	11881897		2203	4300	6503	SO:0001583	missense	7566			X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.1027C>G	17.37:g.11881897G>C	ENSP00000315664:p.Leu343Val		Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.L343V	ENST00000322748.3	37	c.1027	CCDS32568.1	17	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111150	0.37242	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	T	0.06218	3.33	5.39	3.3	0.37823	.	0.965893	0.08506	N	0.935606	T	0.04272	0.0118	N	0.12182	0.205	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.14578	0.011;0.005	T	0.46062	-0.9218	10	0.13108	T	0.6	-0.1328	10.1842	0.42986	0.0:0.1539:0.6968:0.1493	.	342;343	P17022-2;P17022	.;ZNF18_HUMAN	V	343	ENSP00000315664:L343V	ENSP00000315664:L343V	L	-	1	0	ZNF18	11822622	0.002000	0.14202	0.001000	0.08648	0.924000	0.55760	1.039000	0.30266	0.680000	0.31366	0.557000	0.71058	CTC	ZNF18	-	NULL		0.498	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF18	HGNC	protein_coding	OTTHUMT00000441450.2	G	XM_085596		11881897	-1	no_errors	ENST00000322748	ensembl	human	known	70_37	missense	SNP	0.000	C
ZNF19	7567	genome.wustl.edu	37	16	71512831	71512831	+	Silent	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:71512831G>A	ENST00000288177.5	-	4	366	c.111C>T	c.(109-111)gcC>gcT	p.A37A	AC010547.9_ENST00000561908.1_Silent_p.A37A|ZNF19_ENST00000564230.1_Silent_p.A37A|ZNF19_ENST00000565100.2_Intron|ZNF19_ENST00000565637.1_5'UTR|ZNF19_ENST00000567225.1_Silent_p.A37A	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	37	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		TTCTGTACAGGGCCCTCTGGG	0.498																																																	0													139.0	140.0	139.0					16																	71512831		2198	4300	6498	SO:0001819	synonymous_variant	7567			X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"""Zinc fingers, C2H2-type"", ""-"""	12981	protein-coding gene	gene with protein product		194525	"""zinc finger protein 19 (KOX 12)"""			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.111C>T	16.37:g.71512831G>A			A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A37	ENST00000288177.5	37	c.111	CCDS10901.1	16																																																																																			ZNF19	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.498	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF19	HGNC	protein_coding	OTTHUMT00000268993.2	G	NM_006961		71512831	-1	no_errors	ENST00000288177	ensembl	human	known	70_37	silent	SNP	1.000	A
ZKSCAN8	7745	genome.wustl.edu	37	6	28121307	28121307	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr6:28121307C>T	ENST00000330236.6	+	6	1433	c.1249C>T	c.(1249-1251)Cag>Tag	p.Q417*	ZKSCAN8_ENST00000457389.2_Nonsense_Mutation_p.Q417*	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	417					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGCTTTCAGTCAGAGTGCGGG	0.498																																																	0													81.0	86.0	84.0					6																	28121307		2203	4300	6503	SO:0001587	stop_gained	7745				CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12983	protein-coding gene	gene with protein product		602240	"""zinc finger protein 192"""	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.1249C>T	6.37:g.28121307C>T	ENSP00000332750:p.Gln417*		A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.Q417*	ENST00000330236.6	37	c.1249	CCDS4645.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.112227	0.97296	.	.	ENSG00000198315	ENST00000330236;ENST00000457389	.	.	.	5.99	5.12	0.69794	.	0.000000	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	13.5986	0.62004	0.0:0.9246:0.0:0.0754	.	.	.	.	X	417	.	ENSP00000332750:Q417X	Q	+	1	0	ZNF192	28229286	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.884000	0.04166	2.853000	0.98044	0.655000	0.94253	CAG	ZNF192	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.498	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF192	HGNC	protein_coding	OTTHUMT00000040178.2	C			28121307	+1	no_errors	ENST00000330236	ensembl	human	known	70_37	nonsense	SNP	0.956	T
ZNF28	7576	genome.wustl.edu	37	19	53304200	53304200	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:53304200C>T	ENST00000457749.2	-	4	1017	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	ZNF28_ENST00000360272.4_Missense_Mutation_p.E247K|ZNF28_ENST00000414252.2_Missense_Mutation_p.E247K|ZNF28_ENST00000438150.2_Missense_Mutation_p.E247K	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	300					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TCTTCACATTCATAAGGTTTG	0.383																																																	0													143.0	138.0	140.0					19																	53304200		2203	4300	6503	SO:0001583	missense	7576			X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.898G>A	19.37:g.53304200C>T	ENSP00000397693:p.Glu300Lys		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	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.E300K	ENST00000457749.2	37	c.898	CCDS33093.2	19	.	.	.	.	.	.	.	.	.	.	-	0.014	-1.574866	0.00887	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.06608	3.28;3.28;3.28;3.28;3.28	1.2	-1.68	0.08212	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01835	0.0058	N	0.03115	-0.41	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.44651	-0.9314	9	0.02654	T	1	.	2.6492	0.04994	0.2158:0.3368:0.0:0.4474	.	300	P17035	ZNF28_HUMAN	K	247;300;247;247;247	ENSP00000412143:E247K;ENSP00000397693:E300K;ENSP00000353410:E247K;ENSP00000444965:E247K;ENSP00000375661:E247K	ENSP00000353410:E247K	E	-	1	0	ZNF28	57996012	0.000000	0.05858	0.037000	0.18230	0.077000	0.17291	-3.596000	0.00420	-0.385000	0.07833	0.186000	0.17326	GAA	ZNF28	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF28	HGNC	protein_coding	OTTHUMT00000336038.2	C	NM_006969		53304200	-1	no_errors	ENST00000457749	ensembl	human	known	70_37	missense	SNP	0.019	T
ZNF324	25799	genome.wustl.edu	37	19	58982703	58982703	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:58982703G>A	ENST00000536459.2	+	4	1553	c.844G>A	c.(844-846)Gag>Aag	p.E282K	ZNF324_ENST00000535298.1_Missense_Mutation_p.E59K|ZNF324_ENST00000196482.3_Missense_Mutation_p.E282K|ZNF446_ENST00000596341.1_5'Flank			O75467	Z324A_HUMAN	zinc finger protein 324	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCACACCGGGGAGCGGCCCTA	0.652																																																	0													48.0	42.0	44.0					19																	58982703		2201	4299	6500	SO:0001583	missense	25799			AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.844G>A	19.37:g.58982703G>A	ENSP00000444812:p.Glu282Lys		B3KRX1	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.E282K	ENST00000536459.2	37	c.844	CCDS12981.1	19	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811383	0.90707	.	.	ENSG00000083812	ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298	T;T;T	0.24350	1.86;1.86;1.86	4.38	4.38	0.52667	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000702	T	0.32285	0.0824	N	0.12746	0.255	0.46279	D	0.998969	D	0.71674	0.998	D	0.73708	0.981	T	0.31971	-0.9924	10	0.59425	D	0.04	.	15.241	0.73471	0.0:0.0:1.0:0.0	.	282	O75467	Z324A_HUMAN	K	282;282;272;59	ENSP00000196482:E282K;ENSP00000444812:E282K;ENSP00000439588:E59K	ENSP00000196482:E282K	E	+	1	0	ZNF324	63674515	0.995000	0.38212	0.994000	0.49952	0.978000	0.69477	4.684000	0.61686	2.365000	0.80145	0.455000	0.32223	GAG	ZNF324	-	pfscan_Znf_C2H2		0.652	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF324	HGNC	protein_coding	OTTHUMT00000467044.1	G	NM_014347		58982703	+1	no_errors	ENST00000196482	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF408	79797	genome.wustl.edu	37	11	46726695	46726695	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr11:46726695C>T	ENST00000311764.2	+	5	1675	c.1445C>T	c.(1444-1446)tCc>tTc	p.S482F		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	482					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AACCAGGGCTCCCTGCGGAAC	0.672																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)												0													45.0	51.0	49.0					11																	46726695		2200	4299	6499	SO:0001583	missense	79797			AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1445C>T	11.37:g.46726695C>T	ENSP00000309606:p.Ser482Phe			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S482F	ENST00000311764.2	37	c.1445	CCDS7923.1	11	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730644	0.48939	.	.	ENSG00000175213	ENST00000311764	T	0.20200	2.09	5.15	5.15	0.70609	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44483	D	0.000460	T	0.43897	0.1268	L	0.55017	1.72	0.53005	D	0.999963	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.07693	-1.0759	10	0.42905	T	0.14	-33.7066	19.1844	0.93637	0.0:1.0:0.0:0.0	.	474;482	B4DXY4;Q9H9D4	.;ZN408_HUMAN	F	482	ENSP00000309606:S482F	ENSP00000309606:S482F	S	+	2	0	ZNF408	46683271	0.997000	0.39634	1.000000	0.80357	0.086000	0.17979	3.604000	0.54081	2.838000	0.97847	0.563000	0.77884	TCC	ZNF408	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.672	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF408	HGNC	protein_coding	OTTHUMT00000390485.2	C	NM_024741		46726695	+1	no_errors	ENST00000311764	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF470	388566	genome.wustl.edu	37	19	57085838	57085838	+	Missense_Mutation	SNP	A	A	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:57085838A>C	ENST00000330619.8	+	4	822	c.136A>C	c.(136-138)Agt>Cgt	p.S46R	ZNF470_ENST00000391709.3_Missense_Mutation_p.S46R|ZNF470_ENST00000601902.1_Missense_Mutation_p.S46R	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	46	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGCTCAGAGAAGTTTGTACAA	0.418																																																	0													199.0	175.0	183.0					19																	57085838		2203	4300	6503	SO:0001583	missense	388566			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.136A>C	19.37:g.57085838A>C	ENSP00000333223:p.Ser46Arg		A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	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.S46R	ENST00000330619.8	37	c.136	CCDS33122.1	19	.	.	.	.	.	.	.	.	.	.	A	12.48	1.951836	0.34471	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.01787	4.64;4.64	3.28	2.26	0.28386	Krueppel-associated box (4);	.	.	.	.	T	0.01695	0.0054	L	0.38531	1.155	0.23528	N	0.997483	B	0.22909	0.077	B	0.25291	0.059	T	0.46665	-0.9175	9	0.25751	T	0.34	.	4.0198	0.09660	0.7336:0.0:0.2664:0.0	.	46	Q6ECI4	ZN470_HUMAN	R	46	ENSP00000375590:S46R;ENSP00000333223:S46R	ENSP00000333223:S46R	S	+	1	0	ZNF470	61777650	0.004000	0.15560	0.994000	0.49952	0.997000	0.91878	0.645000	0.24782	1.496000	0.48567	0.533000	0.62120	AGT	ZNF470	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.418	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF470	HGNC	protein_coding	OTTHUMT00000459707.2	A	NM_001001668		57085838	+1	no_errors	ENST00000330619	ensembl	human	known	70_37	missense	SNP	0.945	C
ZNF48	197407	genome.wustl.edu	37	16	30409039	30409039	+	Silent	SNP	C	C	T	rs144670554		TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr16:30409039C>T	ENST00000320159.2	+	2	844	c.468C>T	c.(466-468)atC>atT	p.I156I	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	156					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CTGCCCGGATCAAACACCAGC	0.602																																																	0													51.0	61.0	58.0					16																	30409039		2197	4300	6497	SO:0001819	synonymous_variant	197407			M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"""Zinc fingers, C2H2-type"""	13114	protein-coding gene	gene with protein product			"""zinc finger protein 553"""	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.468C>T	16.37:g.30409039C>T			Q15920|Q4G0R3|Q69YP3|Q96IL9	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I156	ENST00000320159.2	37	c.468	CCDS10679.1	16																																																																																			ZNF48	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.602	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF48	HGNC	protein_coding	OTTHUMT00000255549.2	C	NM_152652		30409039	+1	no_errors	ENST00000320159	ensembl	human	known	70_37	silent	SNP	0.991	T
ZNF483	158399	genome.wustl.edu	37	9	114290024	114290024	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr9:114290024C>T	ENST00000309235.5	+	2	507	c.349C>T	c.(349-351)Cct>Tct	p.P117S	ZNF483_ENST00000355824.3_Missense_Mutation_p.P117S|ZNF483_ENST00000358151.4_Missense_Mutation_p.P117S|ZNF483_ENST00000374374.3_Missense_Mutation_p.P117S	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	117	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GTCACAACATCCTGAGAGTAG	0.443																																																	0													97.0	100.0	99.0					9																	114290024		2203	4300	6503	SO:0001583	missense	158399			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.349C>T	9.37:g.114290024C>T	ENSP00000311679:p.Pro117Ser		Q5VZN2|Q8NAE1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.P117S	ENST00000309235.5	37	c.349	CCDS35106.1	9	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933794	0.52866	.	.	ENSG00000173258	ENST00000358151;ENST00000355824;ENST00000374374;ENST00000309235	T;T;T;T	0.08370	3.1;3.1;3.1;3.1	5.55	5.55	0.83447	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.44097	D	0.000498	T	0.39860	0.1094	H	0.94345	3.525	0.29744	N	0.83686	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.52283	-0.8596	10	0.42905	T	0.14	-23.9655	15.3797	0.74645	0.0:1.0:0.0:0.0	.	117;117;117;117	Q6P088;Q5VZN3;Q8NAE1;Q8TF39	.;.;.;ZN483_HUMAN	S	117	ENSP00000350871:P117S;ENSP00000438048:P117S;ENSP00000363494:P117S;ENSP00000311679:P117S	ENSP00000311679:P117S	P	+	1	0	ZNF483	113329845	0.032000	0.19561	0.219000	0.23793	0.508000	0.34012	1.420000	0.34804	2.777000	0.95525	0.609000	0.83330	CCT	ZNF483	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.443	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF483	HGNC	protein_coding	OTTHUMT00000053641.1	C	XM_088567		114290024	+1	no_errors	ENST00000309235	ensembl	human	known	70_37	missense	SNP	0.512	T
ZNF493	284443	genome.wustl.edu	37	19	21588589	21588589	+	Intron	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:21588589G>A	ENST00000355504.4	+	1	135				ZNF493_ENST00000594390.1_Missense_Mutation_p.V62I|ZNF493_ENST00000596302.1_Missense_Mutation_p.V63I|ZNF493_ENST00000392288.2_Missense_Mutation_p.V62I|ZNF493_ENST00000339914.6_Missense_Mutation_p.V63I|CTD-2561J22.3_ENST00000600810.1_Missense_Mutation_p.V43I	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GCCAGATCTGGTCACCTGTCT	0.403																																																	0													76.0	79.0	78.0					19																	21588589		2203	4300	6503	SO:0001627	intron_variant	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.-132+8520G>A	19.37:g.21588589G>A			G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.V63I	ENST00000355504.4	37	c.187	CCDS12412.1	19	.	.	.	.	.	.	.	.	.	.	N	0.004	-2.297366	0.00243	.	.	ENSG00000196268	ENST00000392288;ENST00000339914	T;T	0.00724	5.78;5.78	1.13	-1.94	0.07571	.	.	.	.	.	T	0.00300	0.0009	N	0.00980	-1.08	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.41484	-0.9506	9	0.02654	T	1	.	4.3685	0.11235	0.4647:0.0:0.5353:0.0	.	62;63	Q6ZR52-2;G5E974	.;.	I	62;63	ENSP00000376110:V62I;ENSP00000340651:V63I	ENSP00000340651:V63I	V	+	1	0	ZNF493	21380429	0.014000	0.17966	0.000000	0.03702	0.005000	0.04900	0.290000	0.18975	-0.549000	0.06191	-0.382000	0.06688	GTC	ZNF493	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.403	ZNF493-003	KNOWN	basic|CCDS	protein_coding	ZNF493	HGNC	protein_coding	OTTHUMT00000280563.1	G	NM_175910		21588589	+1	no_errors	ENST00000596302	ensembl	human	putative	70_37	missense	SNP	0.000	A
ZNF526	116115	genome.wustl.edu	37	19	42729195	42729195	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:42729195G>C	ENST00000301215.3	+	3	865	c.640G>C	c.(640-642)Gag>Cag	p.E214Q		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	214	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GGAGTTCTTGGAGCATCAGGG	0.552																																																	0													120.0	110.0	113.0					19																	42729195		2203	4300	6503	SO:0001583	missense	116115			AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.640G>C	19.37:g.42729195G>C	ENSP00000301215:p.Glu214Gln		B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E214Q	ENST00000301215.3	37	c.640	CCDS12598.1	19	.	.	.	.	.	.	.	.	.	.	G	14.79	2.639106	0.47153	.	.	ENSG00000167625	ENST00000437878;ENST00000301215	T	0.27557	1.66	4.52	4.52	0.55395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.168155	0.39909	N	0.001239	T	0.23370	0.0565	L	0.33245	0.995	0.30591	N	0.761568	B	0.30824	0.296	B	0.29942	0.109	T	0.07908	-1.0748	10	0.12103	T	0.63	-13.6942	16.5388	0.84380	0.0:0.0:1.0:0.0	.	214	Q8TF50	ZN526_HUMAN	Q	70;214	ENSP00000301215:E214Q	ENSP00000301215:E214Q	E	+	1	0	ZNF526	47421035	0.054000	0.20591	1.000000	0.80357	0.997000	0.91878	1.305000	0.33493	2.514000	0.84764	0.563000	0.77884	GAG	ZNF526	-	smart_Znf_C2H2-like		0.552	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF526	HGNC	protein_coding	OTTHUMT00000463681.2	G	XM_057401		42729195	+1	no_errors	ENST00000301215	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF608	57507	genome.wustl.edu	37	5	123973360	123973361	+	3'UTR	INS	-	-	TA	rs397712017|rs374766637|rs147150549|rs34750134	byFrequency	TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr5:123973360_123973361insTA	ENST00000306315.5	-	0	5206_5207				ZNF608_ENST00000504926.1_3'UTR|ZNF608_ENST00000513985.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608								metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		atatttatatttatatatatat	0.287														2125	0.424321	0.2284	0.5432	5008	,	,		7584	0.6101		0.3499	False		,,,				2504	0.4898																0																																										SO:0001624	3_prime_UTR_variant	57507			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.*233->TA	5.37:g.123973369_123973370dupTA			A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	RNA	INS	-	NULL	ENST00000306315.5	37	NULL	CCDS34219.1	5																																																																																			ZNF608	-	-		0.287	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	HGNC	protein_coding	OTTHUMT00000371300.1	-	XM_114432		123973361	-1	no_errors	ENST00000513985	ensembl	human	known	70_37	rna	INS	0.932:0.970	TA
ZNF638	27332	genome.wustl.edu	37	2	71635303	71635303	+	Silent	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr2:71635303C>T	ENST00000409544.1	+	20	3817	c.3187C>T	c.(3187-3189)Ctg>Ttg	p.L1063L	ZNF638_ENST00000409407.1_5'UTR|ZNF638_ENST00000355812.3_Silent_p.L1063L|ZNF638_ENST00000264447.4_Silent_p.L1063L	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1063					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GTATAGCTTTCTGAAACAAAA	0.323																																																	0													106.0	110.0	109.0					2																	71635303		2203	4300	6503	SO:0001819	synonymous_variant	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.3187C>T	2.37:g.71635303C>T			B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Silent	SNP	pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.L1063	ENST00000409544.1	37	c.3187	CCDS1917.1	2																																																																																			ZNF638	-	NULL		0.323	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	HGNC	protein_coding	OTTHUMT00000327431.1	C	NM_014497		71635303	+1	no_errors	ENST00000264447	ensembl	human	known	70_37	silent	SNP	1.000	T
ZNF696	79943	genome.wustl.edu	37	8	144375238	144375238	+	Intron	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr8:144375238G>A	ENST00000330143.3	+	2	473				ZNF696_ENST00000521537.1_Missense_Mutation_p.E23K|ZNF696_ENST00000520333.1_Intron|RP13-582O9.7_ENST00000607376.1_RNA	NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CCTTGCAGGTGAGGGGACATG	0.527																																																	0													80.0	68.0	72.0					8																	144375238		2203	4300	6503	SO:0001627	intron_variant	79943			AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"""Zinc fingers, C2H2-type"""	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.64+3G>A	8.37:g.144375238G>A			A0AVE2	Missense_Mutation	SNP	NULL	p.E23K	ENST00000330143.3	37	c.67	CCDS6399.1	8	.	.	.	.	.	.	.	.	.	.	G	9.596	1.127501	0.20959	.	.	ENSG00000185730	ENST00000521537	.	.	.	1.09	1.09	0.20402	.	.	.	.	.	T	0.25531	0.0621	.	.	.	0.19300	N	0.999972	.	.	.	.	.	.	T	0.22173	-1.0224	4	.	.	.	.	5.5582	0.17129	0.0:0.0:1.0:0.0	.	.	.	.	K	23	.	.	E	+	1	0	ZNF696	144446613	0.857000	0.29778	0.727000	0.30756	0.242000	0.25591	0.103000	0.15292	0.907000	0.36646	0.563000	0.77884	GAG	ZNF696	-	NULL		0.527	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF696	HGNC	protein_coding	OTTHUMT00000381164.2	G	NM_030895		144375238	+1	no_errors	ENST00000521537	ensembl	human	putative	70_37	missense	SNP	0.748	A
ZNF793	390927	genome.wustl.edu	37	19	38028578	38028578	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:38028578C>T	ENST00000587143.1	+	6	1253	c.1018C>T	c.(1018-1020)Cgt>Tgt	p.R340C	ZNF793_ENST00000542455.1_Missense_Mutation_p.R340C|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000445217.1_Missense_Mutation_p.R340C			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	340					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGACCGTATCGTTGCAGAGA	0.458																																					Melanoma(44;400 1431 1499 19093)												0													92.0	102.0	99.0					19																	38028578		2170	4282	6452	SO:0001583	missense	390927			AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"""Zinc fingers, C2H2-type"", ""-"""	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.1018C>T	19.37:g.38028578C>T	ENSP00000468605:p.Arg340Cys		E9PGN4|Q7Z3Q9	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.R340C	ENST00000587143.1	37	c.1018	CCDS46062.1	19	.	.	.	.	.	.	.	.	.	.	C	10.89	1.479634	0.26511	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.15139	2.45;2.45	4.13	0.392	0.16288	.	0.466719	0.16274	N	0.221656	T	0.17066	0.0410	L	0.46885	1.475	0.09310	N	1	D	0.57571	0.98	P	0.48901	0.594	T	0.10359	-1.0633	10	0.87932	D	0	.	4.4559	0.11643	0.307:0.5105:0.0:0.1825	.	340	E9PGN4	.	C	340;340;340;339	ENSP00000444355:R340C;ENSP00000396402:R340C	ENSP00000318811:R339C	R	+	1	0	ZNF793	42720418	0.000000	0.05858	0.101000	0.21167	0.318000	0.28184	-3.153000	0.00581	0.461000	0.27071	-0.133000	0.14855	CGT	ZNF793	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.458	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF793	HGNC	protein_coding	OTTHUMT00000458621.1	C	NM_001013659		38028578	+1	no_errors	ENST00000445217	ensembl	human	known	70_37	missense	SNP	0.006	T
ZNF99	7652	genome.wustl.edu	37	19	22941062	22941062	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:22941062G>A	ENST00000596209.1	-	4	1739	c.1649C>T	c.(1648-1650)tCa>tTa	p.S550L	ZNF99_ENST00000397104.3_Missense_Mutation_p.S459L	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	550					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CATAAGGGTTGAGGAATTGTT	0.338																																																	0													40.0	43.0	42.0					19																	22941062		2048	4206	6254	SO:0001583	missense	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1649C>T	19.37:g.22941062G>A	ENSP00000472969:p.Ser550Leu		M0R335	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.S459L	ENST00000596209.1	37	c.1376	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	-	7.856	0.724951	0.15439	.	.	ENSG00000213973	ENST00000397104	T	0.01705	4.68	1.29	1.29	0.21616	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07683	0.0193	M	0.71206	2.165	0.09310	N	1	D	0.76494	0.999	D	0.74674	0.984	T	0.13548	-1.0505	9	0.52906	T	0.07	.	9.5079	0.39058	0.0:0.0:1.0:0.0	.	459	A8MXY4	ZNF99_HUMAN	L	459	ENSP00000380293:S459L	ENSP00000380293:S459L	S	-	2	0	ZNF99	22732902	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.093000	0.11111	0.680000	0.31366	0.400000	0.26472	TCA	ZNF99	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.338	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	G	XM_065124		22941062	-1	no_errors	ENST00000397104	ensembl	human	known	70_37	missense	SNP	0.000	A
ZNF816	125893	genome.wustl.edu	37	19	53431657	53431657	+	3'UTR	SNP	C	C	G			TCGA-C5-A2LZ-01A-11D-A20U-09	TCGA-C5-A2LZ-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32bcb373-b823-4591-ad69-0f9cb6ce730d	d8f4b908-0a83-42da-95e9-434d1d71adb1	g.chr19:53431657C>G	ENST00000549216.1	-	0	1064				ZNF816-ZNF321P_ENST00000313956.4_RNA	NM_001202473.1	NP_001189402.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						agggcattctcaaaaacaagg	0.383																																																	0																																										SO:0001624	3_prime_UTR_variant	100529240			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000549216.1:c.*499G>C	19.37:g.53431657C>G			A8K7H5|Q3KR39|Q659B3	RNA	SNP	-	NULL	ENST00000549216.1	37	NULL		19																																																																																			ZNF816-ZNF321P	-	-		0.383	ZNF816-202	KNOWN	basic	protein_coding	ZNF816-ZNF321P	HGNC	protein_coding		C	NM_001031665		53431657	-1	no_errors	ENST00000313956	ensembl	human	known	70_37	rna	SNP	0.009	G
