#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_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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	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_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_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
PKP3	11187	genome.wustl.edu	37	11	397268	397268	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr11:397268G>A	ENST00000331563.2	+	3	843	c.767G>A	c.(766-768)aGc>aAc	p.S256N		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	256					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGATTCCAGAGCAGCCACCGG	0.736																																																0			11											5.0	7.0	6.0					11																	397268		1854	3782	5636	387268	SO:0001583	missense	11187			Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"""Armadillo repeat containing"""	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.767G>A	11.37:g.397268G>A	ENSP00000331678:p.Ser256Asn		387268	F8J390|Q53EX8	Missense_Mutation	SNP	superfamily_ARM-type_fold,HMMPfam_Arm,HMMSmart_ARM	p.S256N	ENST00000331563.2	37	c.767	CCDS7695.1	11	.	.	.	.	.	.	.	.	.	.	g	17.25	3.342317	0.61073	.	.	ENSG00000184363	ENST00000533249;ENST00000527442;ENST00000528036;ENST00000331563;ENST00000531857	T	0.80393	-1.37	3.83	3.83	0.44106	.	0.339854	0.29822	N	0.011111	T	0.71500	0.3347	L	0.40543	1.245	0.41455	D	0.988002	B	0.19583	0.037	B	0.12156	0.007	T	0.67173	-0.5737	9	.	.	.	-29.6139	13.6779	0.62465	0.0:0.1554:0.8446:0.0	.	256	Q9Y446	PKP3_HUMAN	N	100;100;100;256;198	ENSP00000331678:S256N	.	S	+	2	0	PKP3	387268	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.209000	0.51122	2.149000	0.67028	0.457000	0.33378	AGC	-	NULL		0.736	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP3	protein_coding	OTTHUMT00000239281.1	G	NM_007183		387268	+1	no_errors	NM_007183	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
BSG	682	genome.wustl.edu	37	19	581411	581411	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr19:581411G>A	ENST00000333511.3	+	6	959	c.889G>A	c.(889-891)Ggc>Agc	p.G297S	BSG_ENST00000346916.4_Missense_Mutation_p.G117S|BSG_ENST00000545507.2_Missense_Mutation_p.G88S|BSG_ENST00000353555.4_Missense_Mutation_p.G181S	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	297	Ig-like V-type.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GGCCGACCCCGGCCAGTACCG	0.657																																																0			19											37.0	36.0	37.0					19																	581411		2201	4299	6500	532411	SO:0001583	missense	682			L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1116	protein-coding gene	gene with protein product	"""Ok blood group"""	109480	"""basigin"""	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.889G>A	19.37:g.581411G>A	ENSP00000333769:p.Gly297Ser		532411	A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig	p.G297S	ENST00000333511.3	37	c.889	CCDS12033.1	19	.	.	.	.	.	.	.	.	.	.	G	31	5.076097	0.94000	.	.	ENSG00000172270	ENST00000346916;ENST00000545507;ENST00000333511;ENST00000353555	T;T;T	0.80994	-1.44;-1.44;-1.44	4.01	4.01	0.46588	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.123706	0.56097	D	0.000040	D	0.91092	0.7196	M	0.94063	3.49	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	0.79784	0.988;0.993;0.993;0.993;0.993	D	0.92613	0.6101	10	0.87932	D	0	-51.3687	11.3758	0.49726	0.0:0.1834:0.8166:0.0	.	181;297;181;297;117	P35613-2;B4DNE1;Q54A51;P35613;A6NJW1	.;.;.;BASI_HUMAN;.	S	117;88;297;181	ENSP00000344707:G117S;ENSP00000333769:G297S;ENSP00000343809:G181S	ENSP00000333769:G297S	G	+	1	0	BSG	532411	1.000000	0.71417	0.854000	0.33618	0.108000	0.19459	7.547000	0.82146	2.087000	0.62958	0.462000	0.41574	GGC	-	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig		0.657	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSG	protein_coding	OTTHUMT00000438630.2	G	NM_001728		532411	+1	no_errors	NM_001728	genbank	human	reviewed	54_36p	missense	SNP	0.355	A
TH	7054	genome.wustl.edu	37	11	2188191	2188191	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr11:2188191G>T	ENST00000381178.1	-	8	878	c.860C>A	c.(859-861)gCt>gAt	p.A287D	TH_ENST00000352909.3_Missense_Mutation_p.A256D|TH_ENST00000333684.5_Intron|TH_ENST00000381175.1_Missense_Mutation_p.A283D	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	287					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CTCCAGCAAAGCAAAGGCCTC	0.662																																																0			11											20.0	21.0	21.0					11																	2188191		2183	4283	6466	2144767	SO:0001583	missense	7054			X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.860C>A	11.37:g.2188191G>T	ENSP00000370571:p.Ala287Asp		2144767	B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	superfamily_ACT-like,superfamily_Aromatic aminoacid monoxygenases catalytic and oligomerization domains,HMMPfam_Biopterin_H,PatternScan_BIOPTERIN_HYDROXYL	p.A287D	ENST00000381178.1	37	c.860	CCDS7731.1	11	.	.	.	.	.	.	.	.	.	.	G	7.998	0.754804	0.15846	.	.	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909	D;D;D	0.99507	-6.04;-6.04;-6.04	3.18	2.03	0.26663	Aromatic amino acid hydroxylase, C-terminal (3);	0.596241	0.18192	N	0.148784	D	0.95506	0.8540	N	0.03967	-0.31	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	D	0.90879	0.4752	10	0.44086	T	0.13	-22.955	5.3979	0.16278	0.0:0.1056:0.1879:0.7065	.	260;256;287;283	B7ZL73;P07101-3;P07101;P07101-2	.;.;TY3H_HUMAN;.	D	287;283;256	ENSP00000370571:A287D;ENSP00000370567:A283D;ENSP00000325951:A256D	ENSP00000325951:A256D	A	-	2	0	TH	2144767	0.008000	0.16893	0.263000	0.24496	0.078000	0.17371	0.116000	0.15561	0.422000	0.26005	0.313000	0.20887	GCT	-	superfamily_Aromatic aminoacid monoxygenases catalytic and oligomerization domains,HMMPfam_Biopterin_H		0.662	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TH	protein_coding	OTTHUMT00000026597.1	G	NM_000360		2144767	-1	no_errors	NM_199292	genbank	human	reviewed	54_36p	missense	SNP	0.939	T
GNA11	2767	genome.wustl.edu	37	19	3119342	3119342	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr19:3119342T>G	ENST00000078429.4	+	6	1116	c.874T>G	c.(874-876)Ttc>Gtc	p.F292V	AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	292					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	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 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GGTGGACTACTTCCCCGAGTT	0.622			Mis		uveal melanoma																																		Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	0			19											86.0	72.0	77.0					19																	3119342		2203	4300	6503	3070342	SO:0001583	missense	2767			AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.874T>G	19.37:g.3119342T>G	ENSP00000078429:p.Phe292Val		3070342	O15109|Q14350|Q6IB00	Missense_Mutation	SNP	superfamily_SSF52540,HMMPfam_G-alpha,superfamily_Transducn_insert	p.F292V	ENST00000078429.4	37	c.874	CCDS12103.1	19	.	.	.	.	.	.	.	.	.	.	.	19.64	3.865872	0.71949	.	.	ENSG00000088256	ENST00000078429	D	0.90069	-2.61	4.14	4.14	0.48551	.	0.402144	0.24330	N	0.039471	D	0.95214	0.8448	M	0.92880	3.355	0.58432	D	0.999999	D	0.63880	0.993	D	0.77004	0.989	D	0.95728	0.8772	10	0.87932	D	0	.	11.9994	0.53222	0.0:0.0:0.0:1.0	.	292	P29992	GNA11_HUMAN	V	292	ENSP00000078429:F292V	ENSP00000078429:F292V	F	+	1	0	GNA11	3070342	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.053000	0.71089	1.519000	0.48950	0.402000	0.26972	TTC	-	superfamily_SSF52540,HMMPfam_G-alpha		0.622	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA11	protein_coding	OTTHUMT00000452261.2	T	NM_002067		3070342	+1	no_errors	NM_002067	genbank	human	validated	54_36p	missense	SNP	1.000	G
PGAP2	27315	genome.wustl.edu	37	11	3838603	3838603	+	Intron	SNP	C	C	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr11:3838603C>A	ENST00000463452.2	+	2	248				PGAP2_ENST00000493547.2_Intron|PGAP2_ENST00000496834.2_Intron|PGAP2_ENST00000396986.2_Intron|PGAP2_ENST00000532017.1_Intron|PGAP2_ENST00000300730.6_Intron|PGAP2_ENST00000396993.4_Intron|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000396991.2_Missense_Mutation_p.F62L|PGAP2_ENST00000278243.4_Missense_Mutation_p.F62L|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000479072.1_Intron	NM_001256240.1	NP_001243169.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2						GPI anchor biosynthetic process (GO:0006506)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|signal transduction in response to DNA damage (GO:0042770)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.F62L(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						GCAGGATGTTCTCTGCGGCCT	0.597																																																1	Substitution - Missense(1)	large_intestine(1)	11											125.0	115.0	118.0					11																	3838603		2201	4298	6499	3795179	SO:0001627	intron_variant	27315			AF159615	CCDS7747.1, CCDS44523.1, CCDS58112.1, CCDS58113.1, CCDS73244.1, CCDS73245.1	11p15.4	2014-01-31			ENSG00000148985	ENSG00000148985			17893	protein-coding gene	gene with protein product	"""FGF receptor activating protein 1"", ""cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)"""	615187	"""mental retardation, non-syndromic, autosomal recessive, 21"""	MRT21		10585768, 16407401, 23561846	Standard	NM_014489		Approved	FRAG1, CWH43-N	uc010qxw.3	Q9UHJ9	OTTHUMG00000012238	ENST00000463452.2:c.165+5949C>A	11.37:g.3838603C>A			3795179	E9PJG5|H7BXL9|Q6UC77|Q96G66|Q9UF01|Q9Y4N1	Missense_Mutation	SNP	HMMPfam_Frag1	p.F62L	ENST00000463452.2	37	c.186	CCDS58112.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.16|15.16	2.749892|2.749892	0.49257|0.49257	.|.	.|.	ENSG00000148985|ENSG00000148985	ENST00000396991;ENST00000278243;ENST00000502872|ENST00000464906	.|.	.|.	.|.	5.53|5.53	2.43|2.43	0.29744|0.29744	.|.	0.277861|.	0.29053|.	N|.	0.013295|.	T|T	0.03564|0.03564	0.0102|0.0102	N|N	0.00034|0.00034	-2.56|-2.56	0.26521|0.26521	N|N	0.974425|0.974425	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.38457|0.38457	-0.9660|-0.9660	9|5	0.07030|.	T|.	0.85|.	-12.5783|-12.5783	5.4408|5.4408	0.16507|0.16507	0.0:0.654:0.1657:0.1802|0.0:0.654:0.1657:0.1802	.|.	62|.	Q9UHJ9|.	PGAP2_HUMAN|.	L|Y	62;62;2|92	.|.	ENSP00000278243:F62L|.	F|S	+|+	3|2	2|0	PGAP2|PGAP2	3795179|3795179	0.988000|0.988000	0.35896|0.35896	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.081000|0.081000	0.14823|0.14823	1.330000|1.330000	0.45394|0.45394	0.650000|0.650000	0.86243|0.86243	TTC|TCT	-	NULL		0.597	PGAP2-049	KNOWN	basic|CCDS	protein_coding	FRAG1	protein_coding	OTTHUMT00000383260.1	C			3795179	+1	no_errors	NM_014489	genbank	human	validated	54_36p	missense	SNP	1.000	A
SRD5A1	6715	genome.wustl.edu	37	5	6663040	6663040	+	Missense_Mutation	SNP	C	C	T	rs374499334		TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr5:6663040C>T	ENST00000274192.5	+	4	908	c.674C>T	c.(673-675)aCg>aTg	p.T225M	SRD5A1_ENST00000538824.1_Missense_Mutation_p.T178M|SRD5A1_ENST00000537411.1_3'UTR	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	225					androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	GCTTTCTTCACGTTTTGTTTT	0.388																																																0			5						C	MET/THR	0,4406		0,0,2203	119.0	113.0	115.0		674	3.7	0.0	5		115	1,8599	1.2+/-3.3	0,1,4299	no	missense	SRD5A1	NM_001047.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	225/260	6663040	1,13005	2203	4300	6503	6716040	SO:0001583	missense	6715			M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.674C>T	5.37:g.6663040C>T	ENSP00000274192:p.Thr225Met		6716040	B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Missense_Mutation	SNP	HMMPfam_Steroid_dh	p.T225M	ENST00000274192.5	37	c.674	CCDS3870.1	5	.	.	.	.	.	.	.	.	.	.	C	17.40	3.381085	0.61845	0.0	1.16E-4	ENSG00000145545	ENST00000274192;ENST00000538824	T;T	0.33654	1.4;1.4	4.66	3.72	0.42706	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (2);	0.050291	0.85682	D	0.000000	T	0.62221	0.2410	M	0.86502	2.82	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.68943	0.961;0.883	T	0.70483	-0.4859	10	0.87932	D	0	-10.6649	13.447	0.61146	0.0:0.8416:0.1584:0.0	.	178;225	F5GXK9;P18405	.;S5A1_HUMAN	M	225;178	ENSP00000274192:T225M;ENSP00000440186:T178M	ENSP00000274192:T225M	T	+	2	0	SRD5A1	6716040	0.997000	0.39634	0.028000	0.17463	0.014000	0.08584	3.833000	0.55790	2.308000	0.77769	0.655000	0.94253	ACG	-	HMMPfam_Steroid_dh		0.388	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRD5A1	protein_coding	OTTHUMT00000206903.1	C	NM_001047		6716040	+1	no_errors	NM_001047	genbank	human	validated	54_36p	missense	SNP	0.923	T
TP53	7157	genome.wustl.edu	37	17	7577105	7577105	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr17:7577105G>C	ENST00000269305.4	-	8	1022	c.833C>G	c.(832-834)cCt>cGt	p.P278R	TP53_ENST00000455263.2_Missense_Mutation_p.P278R|TP53_ENST00000420246.2_Missense_Mutation_p.P278R|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.P278R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.P278R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTCTCTCCCAGGACAGGCACA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	128	Substitution - Missense(107)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)	large_intestine(18)|lung(17)|skin(15)|upper_aerodigestive_tract(12)|haematopoietic_and_lymphoid_tissue(11)|breast(9)|kidney(8)|central_nervous_system(7)|oesophagus(7)|ovary(7)|stomach(4)|bone(4)|liver(3)|soft_tissue(2)|thyroid(1)|prostate(1)|urinary_tract(1)|autonomic_ganglia(1)	17	GRCh37	CM961376	TP53	M							72.0	63.0	66.0					17																	7577105		2203	4300	6503	7517830	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.833C>G	17.37:g.7577105G>C	ENSP00000269305:p.Pro278Arg		7517830	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.P278R	ENST00000269305.4	37	c.833	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422173	0.83559	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	5.13	4.16	0.48862	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96442	0.9327	10	0.87932	D	0	-13.7877	11.4227	0.49991	0.0873:0.0:0.9127:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	R	278;278;278;278;278;267;146	ENSP00000352610:P278R;ENSP00000269305:P278R;ENSP00000398846:P278R;ENSP00000391127:P278R;ENSP00000391478:P278R;ENSP00000425104:P146R	ENSP00000269305:P278R	P	-	2	0	TP53	7517830	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.573000	0.98181	1.392000	0.46585	0.462000	0.41574	CCT	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7517830	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
ITIH5	80760	genome.wustl.edu	37	10	7605294	7605294	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr10:7605294G>T	ENST00000256861.6	-	14	2659	c.2581C>A	c.(2581-2583)Cag>Aag	p.Q861K	ITIH5_ENST00000446830.2_Missense_Mutation_p.Q643K|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Missense_Mutation_p.Q647K	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	861					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GTGAGGTTCTGGCTGGGCCCT	0.567																																																0			10											63.0	60.0	61.0					10																	7605294		2203	4300	6503	7645300	SO:0001583	missense	80760					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.2581C>A	10.37:g.7605294G>T	ENSP00000256861:p.Gln861Lys		7645300	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	HMMSmart_SM00609,HMMPfam_VIT,HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_ITI_HC_C	p.Q861K	ENST00000256861.6	37	c.2581		10	.	.	.	.	.	.	.	.	.	.	G	0.351	-0.944817	0.02304	.	.	ENSG00000123243	ENST00000256861;ENST00000298441;ENST00000446830	T;T;T	0.10573	2.86;2.86;2.86	5.05	-3.86	0.04230	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	3.900760	0.00357	N	0.000024	T	0.06188	0.0160	.	.	.	0.19945	N	0.999946	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.31806	-0.9930	9	0.22109	T	0.4	-0.9836	5.9425	0.19201	0.1921:0.0693:0.5518:0.1868	.	861;647	Q86UX2;Q86UX2-3	ITIH5_HUMAN;.	K	861;647;643	ENSP00000256861:Q861K;ENSP00000298441:Q647K;ENSP00000387969:Q643K	ENSP00000256861:Q861K	Q	-	1	0	ITIH5	7645300	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-0.557000	0.05985	-0.906000	0.03866	-1.738000	0.00688	CAG	-	HMMPfam_ITI_HC_C		0.567	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	ITIH5	protein_coding	OTTHUMT00000046688.1	G	NM_030569		7645300	-1	no_errors	NM_030569	genbank	human	validated	54_36p	missense	SNP	0.000	T
C3AR1	719	genome.wustl.edu	37	12	8211663	8211663	+	Silent	SNP	G	G	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr12:8211663G>A	ENST00000307637.4	-	2	1322	c.1119C>T	c.(1117-1119)agC>agT	p.S373S		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	373					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GAAAGGTTTTGCTCTGAGACT	0.512																																																0			12											67.0	60.0	63.0					12																	8211663		2203	4300	6503	8102930	SO:0001819	synonymous_variant	719			U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.1119C>T	12.37:g.8211663G>A			8102930	O43771|Q92868	Silent	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.S373	ENST00000307637.4	37	c.1119	CCDS8588.1	12																																																																																			-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.512	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3AR1	protein_coding	OTTHUMT00000400254.1	G			8102930	-1	no_errors	NM_004054	genbank	human	validated	54_36p	silent	SNP	0.000	A
USP7	7874	genome.wustl.edu	37	16	8989591	8989591	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr16:8989591C>G	ENST00000344836.4	-	27	3025	c.2827G>C	c.(2827-2829)Gaa>Caa	p.E943Q	USP7_ENST00000535863.1_Missense_Mutation_p.E844Q|USP7_ENST00000381886.4_Missense_Mutation_p.E927Q	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	943					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CTTACAATTTCTAGCAGCCTG	0.333																																																0			16											49.0	48.0	48.0					16																	8989591		2197	4300	6497	8897092	SO:0001583	missense	7874			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2827G>C	16.37:g.8989591C>G	ENSP00000343535:p.Glu943Gln		8897092	A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	superfamily_Traf_like,HMMSmart_MATH,HMMPfam_MATH,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2	p.E943Q	ENST00000344836.4	37	c.2827	CCDS32385.1	16	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766487	0.90020	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863	T;T	0.09350	2.99;3.0	5.64	5.64	0.86602	.	0.424754	0.26594	N	0.023501	T	0.21062	0.0507	L	0.58810	1.83	0.80722	D	1	P;P	0.44578	0.838;0.838	P;P	0.46758	0.526;0.526	T	0.00151	-1.1985	10	0.48119	T	0.1	.	19.6975	0.96031	0.0:1.0:0.0:0.0	.	943;927	Q93009;B7Z815	UBP7_HUMAN;.	Q	943;951;844	ENSP00000343535:E943Q;ENSP00000443646:E844Q	ENSP00000343535:E943Q	E	-	1	0	USP7	8897092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.700000	0.84556	2.657000	0.90304	0.650000	0.86243	GAA	-	NULL		0.333	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	protein_coding	OTTHUMT00000434268.2	C			8897092	-1	no_errors	NM_003470	genbank	human	validated	54_36p	missense	SNP	1.000	G
MICAL2	9645	genome.wustl.edu	37	11	12284041	12284041	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr11:12284041C>A	ENST00000256194.4	+	27	3637	c.3349C>A	c.(3349-3351)Cca>Aca	p.P1117T	RP11-265D17.2_ENST00000527288.1_RNA|MICAL2_ENST00000342902.5_Missense_Mutation_p.P1096T|MICAL2_ENST00000537344.1_Missense_Mutation_p.P927T|MICAL2_ENST00000527546.1_Missense_Mutation_p.P927T	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1117					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TTTCAGCCTTCCAGTGCTACA	0.443																																																0			11											169.0	152.0	158.0					11																	12284041		2201	4294	6495	12240617	SO:0001583	missense	9645			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.3349C>A	11.37:g.12284041C>A	ENSP00000256194:p.Pro1117Thr		12240617	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	superfamily_FAD/NAD(P)-binding domain,HMMPfam_FAD_binding_3,superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM	p.P1117T	ENST00000256194.4	37	c.3349	CCDS7809.1	11	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484296	0.84854	.	.	ENSG00000133816	ENST00000537344;ENST00000256194;ENST00000527546;ENST00000342902	T;T;T;T	0.63417	-0.03;-0.02;-0.03;-0.04	5.82	5.82	0.92795	.	0.233058	0.30901	N	0.008647	T	0.71467	0.3343	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	T	0.74074	-0.3782	10	0.87932	D	0	.	19.688	0.95987	0.0:1.0:0.0:0.0	.	1096;927;1117	G3XAC8;B7Z849;O94851	.;.;MICA2_HUMAN	T	927;1117;927;1096	ENSP00000441689:P927T;ENSP00000256194:P1117T;ENSP00000433965:P927T;ENSP00000344894:P1096T	ENSP00000256194:P1117T	P	+	1	0	MICAL2	12240617	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.199000	0.72112	2.756000	0.94617	0.561000	0.74099	CCA	-	NULL		0.443	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	protein_coding	OTTHUMT00000385993.1	C	NM_014632		12240617	+1	no_errors	NM_014632	genbank	human	provisional	54_36p	missense	SNP	1.000	A
STX10	8677	genome.wustl.edu	37	19	13260652	13260652	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr19:13260652A>G	ENST00000587230.1	-	2	159	c.95T>C	c.(94-96)cTg>cCg	p.L32P	STX10_ENST00000343587.5_Missense_Mutation_p.L32P|IER2_ENST00000587885.1_5'Flank|IER2_ENST00000588173.1_5'Flank|STX10_ENST00000589083.1_Missense_Mutation_p.L32P|IER2_ENST00000292433.3_5'Flank|STX10_ENST00000242770.5_Missense_Mutation_p.L32P	NM_001271609.1	NP_001258538.1	O60499	STX10_HUMAN	syntaxin 10	32					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			GCTTTCCTGCAGGAGCTCGCA	0.716											OREG0025290	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			19											29.0	27.0	28.0					19																	13260652		2203	4299	6502	13121652	SO:0001583	missense	8677			AF035531	CCDS32922.1, CCDS62569.1, CCDS62570.1, CCDS62571.1	19p13.13	2008-07-22				ENSG00000104915			11428	protein-coding gene	gene with protein product		603765				9446797	Standard	NM_003765		Approved	hsyn10, SYN10	uc021upq.2	O60499		ENST00000587230.1:c.95T>C	19.37:g.13260652A>G	ENSP00000466298:p.Leu32Pro	686	13121652	A6NC41|Q6IAP4|Q96AE8	Missense_Mutation	SNP	superfamily_t-snare proteins,HMMPfam_Syntaxin-6_N,HMMSmart_SM00397,HMMPfam_SNARE,PatternScan_SYNTAXIN	p.L32P	ENST00000587230.1	37	c.95	CCDS32922.1	19	.	.	.	.	.	.	.	.	.	.	A	14.84	2.654399	0.47467	.	.	ENSG00000104915	ENST00000343587;ENST00000242770;ENST00000440593	.	.	.	4.3	2.12	0.27331	t-SNARE (1);Syntaxin 6, N-terminal (1);	0.000000	0.50627	U	0.000103	T	0.68915	0.3053	M	0.79805	2.47	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.66866	-0.5815	9	0.29301	T	0.29	.	4.5184	0.11947	0.7243:0.0:0.1008:0.1748	.	32	O60499	STX10_HUMAN	P	32	.	ENSP00000242770:L32P	L	-	2	0	STX10	13121652	1.000000	0.71417	0.654000	0.29608	0.143000	0.21401	5.481000	0.66826	1.816000	0.52996	0.460000	0.39030	CTG	-	superfamily_t-snare proteins,HMMPfam_Syntaxin-6_N		0.716	STX10-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STX10	protein_coding	OTTHUMT00000452918.1	A	NM_003765		13121652	-1	no_errors	NM_003765	genbank	human	provisional	54_36p	missense	SNP	1.000	G
RAI1	10743	genome.wustl.edu	37	17	17697102	17697102	+	Silent	SNP	G	G	A	rs398124422|rs34083643|rs398124421|rs587780431		TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr17:17697102G>A	ENST00000353383.1	+	3	1309	c.840G>A	c.(838-840)caG>caA	p.Q280Q	RAI1_ENST00000261641.6_Silent_p.Q280Q	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	280	Gln-rich.|Poly-Gln.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.Q280fs*84(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		ACcagcagcagcagcagcagc	0.627																																																1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	17											20.0	25.0	23.0					17																	17697102		2038	4033	6071	17637827	SO:0001819	synonymous_variant	10743			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.840G>A	17.37:g.17697102G>A			17637827	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	HMMSmart_SM00249	p.Q280	ENST00000353383.1	37	c.840	CCDS11188.1	17																																																																																			-	NULL		0.627	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI1	protein_coding	OTTHUMT00000131775.1	G	NM_030665		17637827	+1	no_errors	NM_030665	genbank	human	reviewed	54_36p	silent	SNP	0.999	A
OR6S1	341799	genome.wustl.edu	37	14	21109629	21109629	+	Silent	SNP	C	C	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr14:21109629C>T	ENST00000320704.3	-	1	221	c.222G>A	c.(220-222)ctG>ctA	p.L74L		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CAGAAGTGAGCAGTATCTCTA	0.448																																																0			14											120.0	113.0	115.0					14																	21109629		2203	4300	6503	20179469	SO:0001819	synonymous_variant	341799			AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.222G>A	14.37:g.21109629C>T			20179469	Q6IFJ9	Silent	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.L74	ENST00000320704.3	37	c.222	CCDS32038.1	14																																																																																			-	superfamily_SSF81321,HMMPfam_7tm_1		0.448	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR6S1	protein_coding	OTTHUMT00000411227.1	C			20179469	-1	no_errors	NM_001001968	genbank	human	provisional	54_36p	silent	SNP	0.000	T
PTCHD1	139411	genome.wustl.edu	37	X	23412062	23412062	+	Silent	SNP	G	G	C			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chrX:23412062G>C	ENST00000379361.4	+	3	3287	c.2427G>C	c.(2425-2427)ctG>ctC	p.L809L		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	809					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TTGTTGGTCTGATTCCTCTTG	0.413																																																0			X											190.0	154.0	166.0					X																	23412062		2203	4300	6503	23321983	SO:0001819	synonymous_variant	139411			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.2427G>C	X.37:g.23412062G>C			23321983	B4DQH0|Q0IJ60|Q6P6B8	Silent	SNP	HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain	p.L809	ENST00000379361.4	37	c.2427	CCDS35215.2	X																																																																																			-	HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain		0.413	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD1	protein_coding	OTTHUMT00000056047.2	G	NM_173495		23321983	+1	no_errors	NM_173495	genbank	human	validated	54_36p	silent	SNP	1.000	C
SLC5A11	115584	genome.wustl.edu	37	16	24922749	24922749	+	Silent	SNP	C	C	G			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr16:24922749C>G	ENST00000347898.3	+	16	2545	c.1923C>G	c.(1921-1923)gcC>gcG	p.A641A	SLC5A11_ENST00000568579.1_Silent_p.A571A|SLC5A11_ENST00000545376.1_Silent_p.A571A|SLC5A11_ENST00000567758.1_Silent_p.A606A|SLC5A11_ENST00000424767.2_Silent_p.A606A|SLC5A11_ENST00000565769.1_Silent_p.A577A|SLC5A11_ENST00000539472.1_Silent_p.A577A|SLC5A11_ENST00000569071.1_Silent_p.A485A|SLC5A11_ENST00000449109.2_Silent_p.A485A	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GAGCAGAAGCCATCATAGTTT	0.532																																																0			16											182.0	188.0	186.0					16																	24922749		2197	4300	6497	24830250	SO:0001819	synonymous_variant	115584			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1923C>G	16.37:g.24922749C>G			24830250		Silent	SNP	HMMPfam_SSF	p.A641	ENST00000347898.3	37	c.1923	CCDS10625.1	16																																																																																			-	NULL		0.532	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A11	protein_coding	OTTHUMT00000214091.3	C	NM_052944		24830250	+1	no_errors	NM_052944	genbank	human	provisional	54_36p	silent	SNP	0.000	G
ZBED9	114821	genome.wustl.edu	37	6	28543042	28543042	+	Silent	SNP	T	T	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr6:28543042T>A	ENST00000452236.2	-	3	2057	c.1440A>T	c.(1438-1440)cgA>cgT	p.R480R	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AAATCCTCTTTCGGATATCCT	0.423																																																0			6											118.0	117.0	118.0					6																	28543042		2203	4300	6503	28651021	SO:0001819	synonymous_variant	114821																														ENST00000452236.2:c.1440A>T	6.37:g.28543042T>A			28651021		Silent	SNP	HMMPfam_SCAN,HMMSmart_SCAN,superfamily_RNaseH_fold,HMMPfam_rve,HMMPfam_hATC	p.R480	ENST00000452236.2	37	c.1440	CCDS34355.1	6																																																																																			-	superfamily_RNaseH_fold,HMMPfam_rve		0.423	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	protein_coding	OTTHUMT00000043551.3	T			28651021	-1	no_errors	NM_052923	genbank	human	provisional	54_36p	silent	SNP	0.042	A
SYNJ1	8867	genome.wustl.edu	37	21	34018831	34018831	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr21:34018831G>A	ENST00000322229.7	-	23	3118	c.3119C>T	c.(3118-3120)aCt>aTt	p.T1040I	SYNJ1_ENST00000382499.2_Missense_Mutation_p.T1079I|SYNJ1_ENST00000357345.3_Missense_Mutation_p.T1040I|SYNJ1_ENST00000433931.2_Missense_Mutation_p.T1079I|SYNJ1_ENST00000382491.3_Missense_Mutation_p.T1035I			O43426	SYNJ1_HUMAN	synaptojanin 1	1040	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GCTGGGGGAAGTACCAAGGCC	0.527																																																0			21											146.0	138.0	141.0					21																	34018831		2203	4300	6503	32940702	SO:0001583	missense	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3119C>T	21.37:g.34018831G>A	ENSP00000322234:p.Thr1040Ile		32940702	O43425|O94984|Q4KMR1	Missense_Mutation	SNP	HMMPfam_Syja_N,superfamily_DNase I-like,HMMSmart_SM00128,HMMPfam_Exo_endo_phos,HMMPfam_DUF1866,superfamily_RNA-binding domain RBD	p.T1040I	ENST00000322229.7	37	c.3119	CCDS54484.1	21	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590958	0.46214	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229	D;D;D;D;D	0.93604	-2.45;-3.23;-3.25;-2.4;-2.42	5.42	3.62	0.41486	.	0.720147	0.14347	N	0.325356	D	0.87633	0.6226	L	0.29908	0.895	0.33726	D	0.617621	P;B;B;B;B	0.35433	0.501;0.0;0.001;0.0;0.145	B;B;B;B;B	0.29942	0.109;0.001;0.003;0.002;0.075	D	0.87330	0.2324	10	0.59425	D	0.04	.	11.3315	0.49479	0.1458:0.0:0.8542:0.0	.	1035;1079;1040;1040;1040	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	I	1035;1040;1079;1079;1040	ENSP00000371931:T1035I;ENSP00000349903:T1040I;ENSP00000371939:T1079I;ENSP00000409667:T1079I;ENSP00000322234:T1040I	ENSP00000322234:T1040I	T	-	2	0	SYNJ1	32940702	1.000000	0.71417	0.626000	0.29213	0.975000	0.68041	4.534000	0.60622	0.663000	0.31027	0.655000	0.94253	ACT	-	NULL		0.527	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	SYNJ1	protein_coding		G			32940702	-1	no_errors	NM_003895	genbank	human	validated	54_36p	missense	SNP	0.870	A
ZBTB22	9278	genome.wustl.edu	37	6	33281788	33281788	+	IGR	SNP	C	C	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr6:33281788C>T	ENST00000431845.2	-	0	2651				TAPBP_ENST00000489157.1_Missense_Mutation_p.A11T|TAPBP_ENST00000434618.2_Missense_Mutation_p.A11T|TAPBP_ENST00000426633.2_Missense_Mutation_p.A11T|TAPBP_ENST00000475304.1_Missense_Mutation_p.A11T|TAPBP_ENST00000456592.2_Missense_Mutation_p.A11T	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						TCACCCAAAGCCACAGCGAGG	0.627																																																0			6											71.0	72.0	72.0					6																	33281788		2203	4300	6503	33389766	SO:0001628	intergenic_variant	6892			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110		6.37:g.33281788C>T			33389766	B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	superfamily_SSF48726,HMMPfam_C1-set	p.A11T	ENST00000431845.2	37	c.31	CCDS4775.1	6	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909310	0.33721	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000489157;ENST00000426633;ENST00000456592;ENST00000449540;ENST00000458089;ENST00000437741;ENST00000467025	T;T;T;T;T	0.42131	1.46;1.53;0.98;1.39;1.46	3.66	1.75	0.24633	.	0.401019	0.25166	N	0.032631	T	0.15869	0.0382	M	0.63428	1.95	0.21064	N	0.999799	B;B;B;B;B;B	0.33612	0.288;0.099;0.164;0.419;0.16;0.099	B;B;B;B;B;B	0.30646	0.118;0.041;0.041;0.118;0.088;0.041	T	0.14504	-1.0470	10	0.21540	T	0.41	-12.6168	8.2517	0.31730	0.4334:0.5666:0.0:0.0	.	11;11;11;11;11;11	G5E9H8;E9PGM2;A2AB90;O15533-3;G3V0I4;O15533	.;.;.;.;.;TPSN_HUMAN	T	11	ENSP00000395701:A11T;ENSP00000417949:A11T;ENSP00000419659:A11T;ENSP00000404833:A11T;ENSP00000387803:A11T	ENSP00000404833:A11T	A	-	1	0	TAPBP	33389766	0.697000	0.27767	0.305000	0.25099	0.249000	0.25844	0.733000	0.26087	0.470000	0.27294	0.549000	0.68633	GCT	-	NULL		0.627	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAPBP	protein_coding	OTTHUMT00000076183.2	C			33389766	-1	no_errors	NM_003190	genbank	human	reviewed	54_36p	missense	SNP	0.997	T
SIM2	6493	genome.wustl.edu	37	21	38072127	38072127	+	Silent	SNP	C	C	A	rs202090892		TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr21:38072127C>A	ENST00000290399.6	+	1	694	c.81C>A	c.(79-81)ctC>ctA	p.L27L	SIM2_ENST00000430056.3_Silent_p.L27L|SIM2_ENST00000460783.1_3'UTR|AP000697.6_ENST00000430607.1_RNA	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	27	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						CCAAGCTGCTCCCGCTGCCGT	0.607																																																0			21											96.0	72.0	80.0					21																	38072127		2202	4297	6499	36993997	SO:0001819	synonymous_variant	6493				CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.81C>A	21.37:g.38072127C>A			36993997	O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Silent	SNP	HMMPfam_HLH,HMMSmart_SM00353,HMMPfam_PAS,HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS_3,HMMSmart_SM00086,HMMPfam_SIM_C	p.L27	ENST00000290399.6	37	c.81	CCDS13646.1	21																																																																																			-	HMMPfam_HLH,HMMSmart_SM00353		0.607	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM2	protein_coding	OTTHUMT00000194692.1	C	NM_009586		36993997	+1	no_errors	NM_005069	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
NDUFAF7	55471	genome.wustl.edu	37	2	37463246	37463246	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr2:37463246A>T	ENST00000002125.4	+	3	264	c.224A>T	c.(223-225)tAt>tTt	p.Y75F	NDUFAF7_ENST00000336237.6_Intron|NDUFAF7_ENST00000483999.1_Intron	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	75					methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)										CAGGGTTATTATGTGTACCGT	0.299																																																0			2											97.0	106.0	103.0					2																	37463246		2201	4297	6498	37316750	SO:0001583	missense	55471				CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"""Mitochondrial respiratory chain complex assembly factors"""	28816	protein-coding gene	gene with protein product	"""mitochondrial dysfunction protein A homolog"""	615898	"""chromosome 2 open reading frame 56"""	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.224A>T	2.37:g.37463246A>T	ENSP00000002125:p.Tyr75Phe		37316750	Q7Z399|Q9P1G3	Missense_Mutation	SNP	HMMPfam_DUF185	p.Y75F	ENST00000002125.4	37	c.224	CCDS1788.1	2	.	.	.	.	.	.	.	.	.	.	A	24.4	4.528206	0.85706	.	.	ENSG00000003509	ENST00000002125;ENST00000416653;ENST00000439218;ENST00000432075	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.36	5.36	0.76844	.	0.059424	0.64402	D	0.000001	D	0.96056	0.8715	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.991;0.996	D	0.97647	1.0152	10	0.87932	D	0	-17.321	15.0637	0.71977	1.0:0.0:0.0:0.0	.	75;75	B4DQY3;Q7L592	.;MIDA_HUMAN	F	75;33;33;33	ENSP00000002125:Y75F;ENSP00000410181:Y33F;ENSP00000394436:Y33F;ENSP00000402959:Y33F	ENSP00000002125:Y75F	Y	+	2	0	C2orf56	37316750	1.000000	0.71417	0.906000	0.35671	0.948000	0.59901	7.919000	0.87513	2.035000	0.60131	0.379000	0.24179	TAT	-	NULL		0.299	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf56	protein_coding	OTTHUMT00000250267.1	A	NM_144736		37316750	+1	no_errors	NM_144736	genbank	human	validated	54_36p	missense	SNP	0.996	T
N4BP2	55728	genome.wustl.edu	37	4	40144436	40144436	+	Silent	SNP	T	T	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr4:40144436T>A	ENST00000261435.6	+	15	5345	c.4929T>A	c.(4927-4929)gcT>gcA	p.A1643A		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1643					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CCAAAGAAGCTTATCGGATAG	0.403																																																0			4											99.0	98.0	98.0					4																	40144436		2203	4300	6503	39820831	SO:0001819	synonymous_variant	55728			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4929T>A	4.37:g.40144436T>A			39820831	A0AVR3|Q9NVK2|Q9P2D4	Silent	SNP	superfamily_UBA-like,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_DUF1771,HMMSmart_SM00463,HMMPfam_Smr	p.A1643	ENST00000261435.6	37	c.4929	CCDS3457.1	4	.	.	.	.	.	.	.	.	.	.	T	7.261	0.605214	0.14002	.	.	ENSG00000078177	ENST00000513269	.	.	.	5.38	-6.65	0.01795	.	.	.	.	.	T	0.36963	0.0986	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37865	-0.9687	4	.	.	.	-13.4154	2.4046	0.04409	0.2453:0.3608:0.0842:0.3097	.	.	.	.	I	1273	.	.	L	+	1	2	N4BP2	39820831	0.047000	0.20315	0.778000	0.31720	0.684000	0.39900	-0.779000	0.04659	-1.586000	0.01632	-2.479000	0.00199	TTA	-	HMMPfam_DUF1771		0.403	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2	protein_coding	OTTHUMT00000250458.2	T	NM_018177		39820831	+1	no_errors	NM_018177	genbank	human	reviewed	54_36p	silent	SNP	0.775	A
EP300	2033	genome.wustl.edu	37	22	41537079	41537079	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr22:41537079A>G	ENST00000263253.7	+	10	3125	c.1906A>G	c.(1906-1908)Aaa>Gaa	p.K636E		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	636	KIX. {ECO:0000255|PROSITE- ProRule:PRU00311}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCTAGCTGAGAAAATCTATAA	0.388			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																														Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0			22											57.0	55.0	56.0					22																	41537079		2203	4300	6503	39867025	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1906A>G	22.37:g.41537079A>G	ENSP00000263253:p.Lys636Glu		39867025	B1AKC2	Missense_Mutation	SNP	superfamily_TAZ_finger,HMMPfam_zf-TAZ,HMMSmart_ZnF_TAZ,HMMPfam_KIX,superfamily_KIX,superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1,HMMPfam_DUF902,HMMPfam_DUF906,HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1,HMMPfam_Creb_binding,superfamily_Nuc_recept_coact	p.K636E	ENST00000263253.7	37	c.1906	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	A	29.3	4.995716	0.93167	.	.	ENSG00000100393	ENST00000263253	D	0.88975	-2.45	5.29	5.29	0.74685	Coactivator CBP, KIX (4);	0.000000	0.48767	D	0.000164	D	0.94427	0.8207	M	0.80982	2.52	0.53005	D	0.999965	D	0.76494	0.999	D	0.87578	0.998	D	0.95154	0.8275	10	0.87932	D	0	-13.0297	15.5287	0.75932	1.0:0.0:0.0:0.0	.	636	Q09472	EP300_HUMAN	E	636	ENSP00000263253:K636E	ENSP00000263253:K636E	K	+	1	0	EP300	39867025	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	9.287000	0.95975	2.118000	0.64928	0.383000	0.25322	AAA	-	HMMPfam_KIX,superfamily_KIX		0.388	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	protein_coding	OTTHUMT00000320600.1	A	NM_001429		39867025	+1	no_errors	NM_001429	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
CDK13	8621	genome.wustl.edu	37	7	40117693	40117693	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr7:40117693G>C	ENST00000181839.4	+	10	3475	c.2870G>C	c.(2869-2871)cGt>cCt	p.R957P	CDK13_ENST00000340829.5_Missense_Mutation_p.R957P	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	957	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AAGCAATATCGTCGAAAGTTA	0.358																																																0			7											160.0	150.0	153.0					7																	40117693		2203	4300	6503	40084218	SO:0001583	missense	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2870G>C	7.37:g.40117693G>C	ENSP00000181839:p.Arg957Pro		40084218	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.R957P	ENST00000181839.4	37	c.2870	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030092	0.75504	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.42900	0.96;0.96	5.61	5.61	0.85477	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	0.46425	0.1392	N	0.05441	-0.05	0.80722	D	1	D;P	0.89917	1.0;0.787	D;P	0.91635	0.999;0.5	T	0.48410	-0.9038	8	.	.	.	-8.6523	20.0184	0.97486	0.0:0.0:1.0:0.0	.	957;957	Q14004-2;Q14004	.;CDK13_HUMAN	P	957	ENSP00000181839:R957P;ENSP00000340557:R957P	.	R	+	2	0	CDK13	40084218	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.808000	0.96608	0.655000	0.94253	CGT	-	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase		0.358	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDC2L5	protein_coding	OTTHUMT00000250726.2	G	NM_003718		40084218	+1	no_errors	NM_003718	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
GFAP	2670	genome.wustl.edu	37	17	42988741	42988741	+	Silent	SNP	C	C	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr17:42988741C>T	ENST00000253408.5	-	6	1055	c.990G>A	c.(988-990)cgG>cgA	p.R330R	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'Flank|GFAP_ENST00000435360.2_Silent_p.R330R|GFAP_ENST00000586793.1_Silent_p.R330R	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	330	Coil 2B.|Rod.		R -> G (in ALEXD; associated with Lys- 332). {ECO:0000269|PubMed:18004641}.		astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				CTTCCTCCAGCCGCGCCAGCG	0.657																																																0			17											47.0	45.0	46.0					17																	42988741		2203	4300	6503	40344267	SO:0001819	synonymous_variant	2670			S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.990G>A	17.37:g.42988741C>T			40344267	B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Silent	SNP	HMMPfam_Filament_head,HMMPfam_Filament,PatternScan_IF	p.R330	ENST00000253408.5	37	c.990	CCDS11491.1	17																																																																																			-	HMMPfam_Filament		0.657	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFAP	protein_coding	OTTHUMT00000448701.1	C	NM_002055		40344267	-1	no_errors	NM_002055	genbank	human	reviewed	54_36p	silent	SNP	0.711	T
PRODH2	58510	genome.wustl.edu	37	19	36303778	36303778	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr19:36303778C>G	ENST00000301175.3	-	2	175	c.158G>C	c.(157-159)gGc>gCc	p.G53A		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	53					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGCCCCTTGCCCAGACCAGG	0.552																																																0			19											22.0	21.0	21.0					19																	36303778		2202	4300	6502	40995618	SO:0001583	missense	58510			U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.158G>C	19.37:g.36303778C>G	ENSP00000301175:p.Gly53Ala		40995618		Missense_Mutation	SNP	HMMPfam_Pro_dh,superfamily_SSF51730	p.G53A	ENST00000301175.3	37	c.158	CCDS12478.1	19	.	.	.	.	.	.	.	.	.	.	C	12.11	1.840900	0.32513	.	.	ENSG00000250799	ENST00000301175	T	0.25250	1.81	4.95	2.85	0.33270	.	.	.	.	.	T	0.13884	0.0336	N	0.14661	0.345	0.80722	D	1	B	0.33826	0.427	B	0.32211	0.142	T	0.07986	-1.0744	9	0.66056	D	0.02	.	7.6185	0.28171	0.0:0.8247:0.0:0.1753	.	53	Q9UF12	PROD2_HUMAN	A	53	ENSP00000301175:G53A	ENSP00000301175:G53A	G	-	2	0	PRODH2	40995618	0.790000	0.28787	0.838000	0.33150	0.117000	0.20001	1.004000	0.29822	0.678000	0.31325	0.591000	0.81541	GGC	-	NULL		0.552	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRODH2	protein_coding	OTTHUMT00000452552.2	C	NM_021232		40995618	-1	no_errors	NM_021232	genbank	human	reviewed	54_36p	missense	SNP	0.763	G
ELL3	80237	genome.wustl.edu	37	15	44067566	44067566	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr15:44067566C>T	ENST00000319359.3	-	6	1224	c.583G>A	c.(583-585)Gtt>Att	p.V195I	SERF2_ENST00000381359.1_5'Flank|RP11-296A16.1_ENST00000417761.2_3'UTR|ELL3_ENST00000497465.1_5'UTR	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	195					DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)			cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CTGTTTGGAACATGGGTCTGG	0.443																																																0			15											45.0	45.0	45.0					15																	44067566		2198	4298	6496	41854858	SO:0001583	missense	80237			AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.583G>A	15.37:g.44067566C>T	ENSP00000320346:p.Val195Ile		41854858	B3KQ66|B3KX08|Q6I9Z7|Q9H634	Missense_Mutation	SNP	HMMPfam_ELL,HMMPfam_Occludin_ELL	p.V195I	ENST00000319359.3	37	c.583	CCDS10102.1	15	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541925	0.27563	.	.	ENSG00000128886	ENST00000319359	T	0.29917	1.55	5.84	2.9	0.33743	.	0.752920	0.12203	N	0.490101	T	0.13157	0.0319	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.28554	-1.0040	10	0.20519	T	0.43	-18.3618	4.0104	0.09619	0.0856:0.1645:0.5821:0.1678	.	195;195;149	B3KX08;Q9HB65;B3KQ66	.;ELL3_HUMAN;.	I	195	ENSP00000320346:V195I	ENSP00000320346:V195I	V	-	1	0	ELL3	41854858	0.961000	0.32948	0.996000	0.52242	0.570000	0.35934	1.381000	0.34362	0.777000	0.33496	-0.359000	0.07587	GTT	-	HMMPfam_ELL		0.443	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL3	protein_coding	OTTHUMT00000133236.2	C	NM_025165		41854858	-1	no_errors	NM_025165	genbank	human	validated	54_36p	missense	SNP	0.271	T
MCAT	27349	genome.wustl.edu	37	22	43529171	43529171	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr22:43529171C>T	ENST00000290429.6	-	4	1096	c.1051G>A	c.(1051-1053)Ggc>Agc	p.G351S	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	351					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				AGCTGCCTGCCAGGGCCTACT	0.582																																																0			22											150.0	153.0	152.0					22																	43529171		2203	4300	6503	41859115	SO:0001583	missense	27349			AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.1051G>A	22.37:g.43529171C>T	ENSP00000290429:p.Gly351Ser		41859115	B0QY72|O95510|O95511	Missense_Mutation	SNP	superfamily_FabD/lysophospholipase-like,HMMPfam_Acyl_transf_1,PatternScan_ABC_TRANSPORTER_1,superfamily_Probable ACP-binding domain of malonyl-CoA ACP transacylase	p.G351S	ENST00000290429.6	37	c.1051	CCDS33660.1	22	.	.	.	.	.	.	.	.	.	.	C	18.76	3.691673	0.68271	.	.	ENSG00000100294	ENST00000290429	T	0.52983	0.64	5.46	5.46	0.80206	Acyl transferase/acyl hydrolase/lysophospholipase (1);Acyl transferase domain (1);	0.052475	0.85682	D	0.000000	T	0.74658	0.3745	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79284	-0.1867	10	0.87932	D	0	-8.5372	19.3175	0.94220	0.0:1.0:0.0:0.0	.	351	Q8IVS2	FABD_HUMAN	S	351	ENSP00000290429:G351S	ENSP00000290429:G351S	G	-	1	0	MCAT	41859115	1.000000	0.71417	0.049000	0.19019	0.019000	0.09904	7.433000	0.80362	2.563000	0.86464	0.655000	0.94253	GGC	-	superfamily_FabD/lysophospholipase-like,HMMPfam_Acyl_transf_1		0.582	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCAT	protein_coding	OTTHUMT00000319677.2	C	NM_173467		41859115	-1	no_errors	NM_173467	genbank	human	reviewed	54_36p	missense	SNP	0.996	T
ZNF585A	199704	genome.wustl.edu	37	19	37646781	37646781	+	Missense_Mutation	SNP	C	C	T	rs374585649		TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr19:37646781C>T	ENST00000356958.4	-	4	536	c.278G>A	c.(277-279)cGt>cAt	p.R93H	ZNF585A_ENST00000392157.2_Missense_Mutation_p.R38H|ZNF585A_ENST00000355533.2_Missense_Mutation_p.R38H|ZNF585A_ENST00000588723.1_5'UTR|ZNF585A_ENST00000292841.5_Missense_Mutation_p.R38H			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	93	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCAGCTCTGACGTGGCCTCTC	0.507																																																0			19						C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	149.0	119.0	129.0		113,113	-4.1	0.0	19		129	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF585A	NM_152655.2,NM_199126.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	38/715,38/715	37646781	1,13005	2203	4300	6503	42338621	SO:0001583	missense	199704			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.278G>A	19.37:g.37646781C>T	ENSP00000349440:p.Arg93His		42338621	Q8TE95|Q96MV3	Missense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.R38H	ENST00000356958.4	37	c.113		19	.	.	.	.	.	.	.	.	.	.	C	6.085	0.384019	0.11524	0.0	1.16E-4	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.08546	3.14;3.23;3.23;3.08	3.36	-4.05	0.03998	Krueppel-associated box (1);	1.894880	0.03168	N	0.170296	T	0.04137	0.0115	N	0.05124	-0.11	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40403	-0.9565	10	0.49607	T	0.09	.	5.0255	0.14383	0.175:0.5046:0.0:0.3204	.	93	Q6P3V2	Z585A_HUMAN	H	93;38;38;38	ENSP00000349440:R93H;ENSP00000292841:R38H;ENSP00000375998:R38H;ENSP00000347724:R38H	ENSP00000292841:R38H	R	-	2	0	ZNF585A	42338621	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-2.417000	0.01034	-1.076000	0.03125	-1.369000	0.01192	CGT	-	NULL		0.507	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	ZNF585A	protein_coding	OTTHUMT00000457980.2	C	NM_152655		42338621	-1	no_errors	NM_152655	genbank	human	validated	54_36p	missense	SNP	0.000	T
POTEA	340441	genome.wustl.edu	37	8	43152233	43152233	+	RNA	SNP	C	C	G			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr8:43152233C>G	ENST00000522175.2	+	0	372							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGACAATGTCAACTTCATGT	0.388																																																0			8											101.0	100.0	100.0					8																	43152233		2168	4289	6457	43271390			340441			AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43152233C>G			43271390	A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank	p.Q124E	ENST00000522175.2	37	c.370		8																																																																																			-	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank		0.388	POTEA-003	KNOWN	basic	processed_transcript	POTEA	pseudogene	OTTHUMT00000383492.1	C	NM_001002920		43271390	+1	no_errors	NM_001005365	genbank	human	provisional	54_36p	missense	SNP	0.987	G
AIRE	326	genome.wustl.edu	37	21	45712971	45712971	+	Silent	SNP	G	G	T	rs572680101	byFrequency	TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr21:45712971G>T	ENST00000291582.5	+	10	1318	c.1191G>T	c.(1189-1191)ctG>ctT	p.L397L	AIRE_ENST00000329347.4_Intron|AIRE_ENST00000355347.4_Silent_p.L190L	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	397					humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		ACAAGCACCTGCCGGCTCCGC	0.677									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				G|||	3	0.000599042	0.0	0.0	5008	,	,		10798	0.0		0.0	False		,,,				2504	0.0031															0			21											25.0	30.0	28.0					21																	45712971		2193	4297	6490	44537399	SO:0001819	synonymous_variant	326	Familial Cancer Database	APECED	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"""Zinc fingers, PHD-type"""	360	protein-coding gene	gene with protein product	"""autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"""	607358	"""autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"""	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.1191G>T	21.37:g.45712971G>T			44537399	B2RP50|O43922|O43932|O75745	Silent	SNP	HMMPfam_Sp100,superfamily_SAND domain-like,HMMPfam_SAND,HMMSmart_SM00258,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1	p.L397	ENST00000291582.5	37	c.1191	CCDS13706.1	21																																																																																			-	NULL		0.677	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIRE	protein_coding	OTTHUMT00000195842.2	G			44537399	+1	no_errors	NM_000383	genbank	human	reviewed	54_36p	silent	SNP	0.089	T
OGDH	4967	genome.wustl.edu	37	7	44715805	44715805	+	Intron	SNP	G	G	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr7:44715805G>T	ENST00000222673.5	+	9	1248				OGDH_ENST00000444676.1_Intron|OGDH_ENST00000449767.1_Intron|OGDH_ENST00000443864.2_Missense_Mutation_p.M421I|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Intron|OGDH_ENST00000447398.1_Intron	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)						2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	GTTCCAGCATGGAGTTCCGCT	0.522																																																0			7											64.0	72.0	69.0					7																	44715805		1327	2309	3636	44682330	SO:0001627	intron_variant	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.1206+57G>T	7.37:g.44715805G>T			44682330	B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	superfamily_SSF52518,HMMPfam_E1_dh	p.M421I	ENST00000222673.5	37	c.1263	CCDS34627.1	7	.	.	.	.	.	.	.	.	.	.	G	5.549	0.286111	0.10513	.	.	ENSG00000105953	ENST00000443864	T	0.39787	1.06	3.24	-2.88	0.05682	.	.	.	.	.	T	0.21022	0.0506	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21484	-1.0244	7	.	.	.	.	4.6342	0.12516	0.4751:0.1684:0.3566:0.0	.	421	Q96DD3	.	I	421	ENSP00000388084:M421I	.	M	+	3	0	OGDH	44682330	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.402000	0.07223	-0.617000	0.05664	0.462000	0.41574	ATG	-	HMMPfam_E1_dh		0.522	OGDH-001	KNOWN	basic|CCDS	protein_coding	OGDH	protein_coding	OTTHUMT00000339391.1	G			44682330	+1	no_errors	NM_001003941	genbank	human	reviewed	54_36p	missense	SNP	0.001	T
TMEM106C	79022	genome.wustl.edu	37	12	48359760	48359760	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr12:48359760C>A	ENST00000429772.2	+	4	504	c.391C>A	c.(391-393)Ctt>Att	p.L131I	TMEM106C_ENST00000550552.1_Missense_Mutation_p.L131I|TMEM106C_ENST00000256686.6_Missense_Mutation_p.L131I|TMEM106C_ENST00000449758.2_Missense_Mutation_p.L131I|TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000552546.1_Missense_Mutation_p.L60I|TMEM106C_ENST00000552561.1_Missense_Mutation_p.L131I	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	131						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		GCAAGACTCCCTTGTAATTCT	0.478																																																0			12											207.0	187.0	194.0					12																	48359760		2203	4300	6503	46646027	SO:0001583	missense	79022			BC000854	CCDS8758.1, CCDS44867.1	12q13.1	2005-12-19				ENSG00000134291			28775	protein-coding gene	gene with protein product							Standard	NM_024056		Approved	MGC5576	uc001rqr.3	Q9BVX2	OTTHUMG00000169892	ENST00000429772.2:c.391C>A	12.37:g.48359760C>A	ENSP00000400471:p.Leu131Ile		46646027	B2R998|B7Z5M4|Q3B761	Missense_Mutation	SNP	HMMPfam_DUF1356	p.L131I	ENST00000429772.2	37	c.391	CCDS8758.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.526|4.526	0.097546|0.097546	0.08681|0.08681	.|.	.|.	ENSG00000134291|ENSG00000134291	ENST00000256686;ENST00000552561;ENST00000552546;ENST00000550552;ENST00000429772;ENST00000449758;ENST00000548640|ENST00000547682	T;T;T;T;T;T;T|.	0.23147|.	1.92;1.92;1.92;1.92;1.92;1.92;1.92|.	4.68|4.68	3.79|3.79	0.43588|0.43588	.|.	0.522735|.	0.19313|.	N|.	0.117341|.	T|T	0.35595|0.35595	0.0937|0.0937	N|N	0.25890|0.25890	0.77|0.77	0.19300|0.19300	N|N	0.999975|0.999975	P;B|.	0.34462|.	0.454;0.4|.	B;B|.	0.31016|.	0.123;0.11|.	T|T	0.21552|0.21552	-1.0242|-1.0242	10|5	0.19147|.	T|.	0.46|.	4.4175|4.4175	12.7366|12.7366	0.57228|0.57228	0.0:0.5655:0.4345:0.0|0.0:0.5655:0.4345:0.0	.|.	131;131|.	Q9BVX2;Q9BVX2-2|.	T106C_HUMAN;.|.	I|H	131;131;60;131;131;131;60|17	ENSP00000256686:L131I;ENSP00000446657:L131I;ENSP00000448268:L60I;ENSP00000449737:L131I;ENSP00000400471:L131I;ENSP00000402705:L131I;ENSP00000447254:L60I|.	ENSP00000256686:L131I|.	L|P	+|+	1|2	0|0	TMEM106C|TMEM106C	46646027|46646027	0.767000|0.767000	0.28508|0.28508	0.927000|0.927000	0.36925|0.36925	0.159000|0.159000	0.22180|0.22180	1.028000|1.028000	0.30128|0.30128	1.562000|1.562000	0.49601|0.49601	0.655000|0.655000	0.94253|0.94253	CTT|CCT	-	HMMPfam_DUF1356		0.478	TMEM106C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM106C	protein_coding	OTTHUMT00000406452.1	C	NM_024056		46646027	+1	no_errors	NM_024056	genbank	human	validated	54_36p	missense	SNP	0.104	A
DCC	1630	genome.wustl.edu	37	18	50912510	50912510	+	Splice_Site	SNP	T	T	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr18:50912510T>A	ENST00000442544.2	+	16	3071		c.e16+2		DCC_ENST00000412726.1_Splice_Site|DCC_ENST00000581580.1_Splice_Site	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor						anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTATAACCGGTAAGTGAAATT	0.328																																																0			18											74.0	71.0	72.0					18																	50912510		2203	4300	6503	49166508	SO:0001630	splice_region_variant	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2455+2T>A	18.37:g.50912510T>A			49166508		Splice_Site	SNP	-	e16+2	ENST00000442544.2	37	c.2455+2	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	T	23.1	4.375880	0.82682	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8048	0.78491	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCC	49166508	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	7.693000	0.84214	2.371000	0.80710	0.533000	0.62120	.	-	-		0.328	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	protein_coding	OTTHUMT00000255996.3	T	NM_005215	Intron	49166508	+1	no_errors	NM_005215	genbank	human	validated	54_36p	splice_site	SNP	1.000	A
CPT1B	1375	genome.wustl.edu	37	22	51015865	51015865	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr22:51015865C>A	ENST00000360719.2	-	3	306	c.169G>T	c.(169-171)Ggc>Tgc	p.G57C	CPT1B_ENST00000440709.1_Missense_Mutation_p.G57C|CHKB_ENST00000463053.1_5'Flank|CPT1B_ENST00000457250.1_Missense_Mutation_p.G57C|CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000312108.7_Missense_Mutation_p.G57C|CPT1B_ENST00000405237.3_Missense_Mutation_p.G57C|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000395650.2_Missense_Mutation_p.G57C|CPT1B_ENST00000434492.2_5'UTR	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	57					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GTGGGGCTGCCAGGGTACACG	0.597																																					Esophageal Squamous(170;988 1933 25577 30295 48163)											0			22											64.0	62.0	62.0					22																	51015865		2203	4300	6503	49362731	SO:0001583	missense	1375			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.169G>T	22.37:g.51015865C>A	ENSP00000353945:p.Gly57Cys		49362731	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	superfamily_CoA-dependent acyltransferases,HMMPfam_Carn_acyltransf,PatternScan_ACYLTRANSF_C_1,PatternScan_ACYLTRANSF_C_2	p.G57C	ENST00000360719.2	37	c.169	CCDS14098.1	22	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956537	0.92726	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000395650;ENST00000417176	D;D;D;D;D;D;T	0.85258	-1.89;-1.89;-1.89;-1.86;-1.96;-1.89;-0.16	5.16	5.16	0.70880	.	0.059733	0.64402	D	0.000004	D	0.90721	0.7088	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;0.981;0.999	D;P;D	0.68353	0.957;0.827;0.91	D	0.91706	0.5377	10	0.87932	D	0	-26.206	16.1155	0.81304	0.0:1.0:0.0:0.0	.	57;57;57	E9PCP2;B7Z4U4;Q92523	.;.;CPT1B_HUMAN	C	57	ENSP00000385486:G57C;ENSP00000312189:G57C;ENSP00000353945:G57C;ENSP00000409342:G57C;ENSP00000414713:G57C;ENSP00000379011:G57C;ENSP00000406316:G57C	ENSP00000312189:G57C	G	-	1	0	CPT1B	49362731	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.492000	0.81482	2.402000	0.81655	0.561000	0.74099	GGC	-	NULL		0.597	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT1B	protein_coding	OTTHUMT00000317264.5	C	NM_152246		49362731	-1	no_errors	NM_004377	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
MUT	4594	genome.wustl.edu	37	6	49427027	49427027	+	Silent	SNP	C	C	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr6:49427027C>A	ENST00000274813.3	-	2	280	c.153G>T	c.(151-153)ctG>ctT	p.L51L		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	51					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTTGCCTTTCAGCTGCTTTT	0.478																																																0			6											142.0	135.0	138.0					6																	49427027		2203	4300	6503	49534986	SO:0001819	synonymous_variant	4594				CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.153G>T	6.37:g.49427027C>A			49534986	A8K953|Q5SYZ3|Q96B11|Q9UD64	Silent	SNP	superfamily_Cobalamin (vitamin B12)-dependent enzymes,HMMPfam_MM_CoA_mutase,PatternScan_METMALONYL_COA_MUTASE,superfamily_Cobalamin (vitamin B12)-binding domain,HMMPfam_B12-binding	p.L51	ENST00000274813.3	37	c.153	CCDS4924.1	6																																																																																			-	superfamily_Cobalamin (vitamin B12)-dependent enzymes		0.478	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUT	protein_coding	OTTHUMT00000040854.1	C			49534986	-1	no_errors	NM_000255	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
SALL4	57167	genome.wustl.edu	37	20	50405670	50405670	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr20:50405670A>T	ENST00000217086.4	-	3	2583	c.2472T>A	c.(2470-2472)agT>agA	p.S824R	SALL4_ENST00000371539.3_Missense_Mutation_p.S47R|SALL4_ENST00000395997.3_Missense_Mutation_p.S387R|SALL4_ENST00000483130.1_5'Flank	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	824					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGAAGGGAGACTGCTCCGAC	0.483																																																0			20											43.0	44.0	44.0					20																	50405670		2203	4300	6503	49839077	SO:0001583	missense	57167			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2472T>A	20.37:g.50405670A>T	ENSP00000217086:p.Ser824Arg		49839077	A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667	p.S824R	ENST00000217086.4	37	c.2472	CCDS13438.1	20	.	.	.	.	.	.	.	.	.	.	A	16.08	3.021137	0.54576	.	.	ENSG00000101115	ENST00000217086;ENST00000395997;ENST00000371539	T;T;T	0.10005	2.92;3.18;3.18	5.73	-8.73	0.00841	.	0.258640	0.27821	N	0.017720	T	0.05410	0.0143	L	0.29908	0.895	0.09310	N	0.999997	B;P;P	0.50710	0.001;0.8;0.938	B;B;B	0.44315	0.002;0.368;0.446	T	0.23368	-1.0190	10	0.13108	T	0.6	-1.977	8.8274	0.35063	0.2989:0.0872:0.5282:0.0857	.	387;47;824	A2A2D8;Q6Y8G5;Q9UJQ4	.;.;SALL4_HUMAN	R	824;387;47	ENSP00000217086:S824R;ENSP00000379319:S387R;ENSP00000360594:S47R	ENSP00000217086:S824R	S	-	3	2	SALL4	49839077	0.001000	0.12720	0.216000	0.23742	0.680000	0.39746	-0.596000	0.05720	-1.784000	0.01272	0.533000	0.62120	AGT	-	NULL		0.483	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL4	protein_coding	OTTHUMT00000079738.3	A			49839077	-1	no_errors	NM_020436	genbank	human	reviewed	54_36p	missense	SNP	0.019	T
PRKD2	25865	genome.wustl.edu	37	19	47217202	47217202	+	Silent	SNP	G	G	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr19:47217202G>A	ENST00000291281.4	-	2	522	c.297C>T	c.(295-297)gaC>gaT	p.D99D	PRKD2_ENST00000595515.1_Silent_p.D99D|PRKD2_ENST00000600194.1_5'UTR|PRKD2_ENST00000433867.1_Silent_p.D99D|PRKD2_ENST00000601806.1_5'UTR			Q9BZL6	KPCD2_HUMAN	protein kinase D2	99					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CCGACGTGGGGTCATGTTTGA	0.627																																																0			19											81.0	73.0	76.0					19																	47217202		2203	4300	6503	51909042	SO:0001819	synonymous_variant	25865			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.297C>T	19.37:g.47217202G>A			51909042	Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.D99	ENST00000291281.4	37	c.297	CCDS12689.1	19																																																																																			-	NULL		0.627	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD2	protein_coding	OTTHUMT00000466591.1	G	NM_016457		51909042	-1	no_errors	NM_001079880	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
GLT8D1	55830	genome.wustl.edu	37	3	52729555	52729555	+	Missense_Mutation	SNP	G	G	C	rs527609707		TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr3:52729555G>C	ENST00000407584.3	-	9	1544	c.694C>G	c.(694-696)Ctt>Gtt	p.L232V	SNORD69_ENST00000391150.1_RNA|GLT8D1_ENST00000478968.2_Missense_Mutation_p.L232V|GLT8D1_ENST00000394783.3_Missense_Mutation_p.L232V|GLT8D1_ENST00000463827.1_5'UTR|GLT8D1_ENST00000491606.1_Missense_Mutation_p.L232V|GLT8D1_ENST00000266014.5_Missense_Mutation_p.L232V	NM_001010983.1|NM_001278280.1	NP_001010983.1|NP_001265209.1	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	232						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TTCATGGAAAGCTTACGAATT	0.338																																																0			3											119.0	121.0	121.0					3																	52729555		2203	4299	6502	52704595	SO:0001583	missense	55830			AY358579	CCDS2862.1	3p21.1	2013-02-22			ENSG00000016864	ENSG00000016864		"""Glycosyltransferase family 8 domain containing"""	24870	protein-coding gene	gene with protein product						12975309	Standard	NM_152932		Approved	AD-017, FLJ14611	uc003dfi.4	Q68CQ7	OTTHUMG00000158759	ENST00000407584.3:c.694C>G	3.37:g.52729555G>C	ENSP00000385730:p.Leu232Val		52704595	Q7Z4D1|Q8N2J6|Q9P0I5	Missense_Mutation	SNP	superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glyco_transf_8	p.L232V	ENST00000407584.3	37	c.694	CCDS2862.1	3	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991051	0.74703	.	.	ENSG00000016864	ENST00000478968;ENST00000394783;ENST00000407584;ENST00000266014;ENST00000491606;ENST00000394786	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.82	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.54565	0.1866	M	0.83603	2.65	0.58432	D	0.999999	D	0.76494	0.999	D	0.87578	0.998	T	0.60816	-0.7188	10	0.54805	T	0.06	-17.7158	15.2034	0.73159	0.0683:0.0:0.9317:0.0	.	232	Q68CQ7	GL8D1_HUMAN	V	232;232;232;232;232;63	ENSP00000419612:L232V;ENSP00000378263:L232V;ENSP00000385730:L232V;ENSP00000266014:L232V;ENSP00000418853:L232V	ENSP00000266014:L232V	L	-	1	0	GLT8D1	52704595	1.000000	0.71417	0.924000	0.36721	0.966000	0.64601	7.549000	0.82163	1.443000	0.47586	0.563000	0.77884	CTT	-	superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glyco_transf_8		0.338	GLT8D1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT8D1	protein_coding	OTTHUMT00000352065.3	G	NM_152932		52704595	-1	no_errors	NM_001010983	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
GSTA2	2939	genome.wustl.edu	37	6	52631087	52631087	+	5'Flank	SNP	T	T	C			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr6:52631087T>C	ENST00000493422.1	-	0	0					NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2						epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	GGGTCACCTTTAGCACAGGGA	0.537																																																0			6																																								52739046	SO:0001631	upstream_gene_variant	647169			AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263		6.37:g.52631087T>C	Exception_encountered		52739046	Q12759|Q16491|Q9NTY6	Silent	SNP	superfamily_Thioredoxin-like,HMMPfam_GST_N,superfamily_Glutathione S-transferase (GST) C-terminal domain,HMMPfam_GST_C	p.L168	ENST00000493422.1	37	c.504	CCDS4944.1	6																																																																																			-	superfamily_Glutathione S-transferase (GST) C-terminal domain,HMMPfam_GST_C		0.537	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC647169	protein_coding	OTTHUMT00000043589.1	T	NM_000846		52739046	-1	no_errors	XM_930196	genbank	human	model	54_36p	silent	SNP	0.904	C
TSPYL2	64061	genome.wustl.edu	37	X	53115193	53115193	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chrX:53115193G>A	ENST00000375442.4	+	6	1751	c.1619G>A	c.(1618-1620)gGc>gAc	p.G540D		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	540	Asn-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						aacacttacggcaacaacTTC	0.463																																																0			X											214.0	145.0	169.0					X																	53115193		2186	4262	6448	53131918	SO:0001583	missense	64061			AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.1619G>A	X.37:g.53115193G>A	ENSP00000364591:p.Gly540Asp		53131918	O94799|Q96DG7|Q9BZW6	Missense_Mutation	SNP	HMMPfam_NAP	p.G540D	ENST00000375442.4	37	c.1619	CCDS14350.1	X	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520154	0.44866	.	.	ENSG00000184205	ENST00000375442	T	0.26810	1.71	2.43	2.43	0.29744	.	3.207140	0.01465	N	0.016056	T	0.32763	0.0840	N	0.08118	0	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.998	T	0.47724	-0.9095	10	0.87932	D	0	-0.5258	7.6494	0.28340	0.0:0.0:1.0:0.0	.	180;540	Q59GC7;Q9H2G4	.;TSYL2_HUMAN	D	540	ENSP00000364591:G540D	ENSP00000364591:G540D	G	+	2	0	TSPYL2	53131918	0.000000	0.05858	0.040000	0.18447	0.135000	0.20990	-0.062000	0.11674	1.507000	0.48752	0.282000	0.19409	GGC	-	NULL		0.463	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL2	protein_coding	OTTHUMT00000056718.1	G	NM_022117		53131918	+1	no_errors	NM_022117	genbank	human	validated	54_36p	missense	SNP	0.003	A
RCN3	57333	genome.wustl.edu	37	19	50040395	50040395	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr19:50040395C>T	ENST00000270645.3	+	4	998	c.551C>T	c.(550-552)aCt>aTt	p.T184I		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	184	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		TCGATGGCCACTCGAGAGGAG	0.612																																																0			19											140.0	138.0	139.0					19																	50040395		2203	4300	6503	54732207	SO:0001583	missense	57333			AY195859	CCDS12771.1	19q13.33	2013-01-10				ENSG00000142552		"""EF-hand domain containing"""	21145	protein-coding gene	gene with protein product							Standard	NM_020650		Approved	RLP49	uc002poj.3	Q96D15		ENST00000270645.3:c.551C>T	19.37:g.50040395C>T	ENSP00000270645:p.Thr184Ile		54732207	Q9HBZ8	Missense_Mutation	SNP	superfamily_SSF47473,HMMSmart_EFh,PatternScan_EF_HAND_1,PatternScan_ER_TARGET	p.T184I	ENST00000270645.3	37	c.551	CCDS12771.1	19	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315728	0.81469	.	.	ENSG00000142552	ENST00000270645	T	0.58652	0.32	5.05	5.05	0.67936	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.76190	0.3953	M	0.91768	3.24	0.53005	D	0.999968	D	0.59357	0.985	P	0.53360	0.724	D	0.83404	0.0024	10	0.87932	D	0	-15.4879	17.1735	0.86835	0.0:1.0:0.0:0.0	.	184	Q96D15	RCN3_HUMAN	I	184	ENSP00000270645:T184I	ENSP00000270645:T184I	T	+	2	0	RCN3	54732207	0.990000	0.36364	0.999000	0.59377	0.862000	0.49288	2.902000	0.48703	2.366000	0.80165	0.313000	0.20887	ACT	-	superfamily_SSF47473		0.612	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCN3	protein_coding	OTTHUMT00000465261.1	C	NM_020650		54732207	+1	no_errors	NM_020650	genbank	human	provisional	54_36p	missense	SNP	0.995	T
METTL2A	339175	genome.wustl.edu	37	17	60526037	60526037	+	Missense_Mutation	SNP	C	C	G	rs192611601		TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr17:60526037C>G	ENST00000311506.5	+	9	1120	c.1084C>G	c.(1084-1086)Cgg>Ggg	p.R362G		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	362					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			GACAATGTACCGGGTTTGGAT	0.542																																																0			17											159.0	160.0	160.0					17																	60526037		2203	4300	6503	57879769	SO:0001583	missense	339175			AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.1084C>G	17.37:g.60526037C>G	ENSP00000309610:p.Arg362Gly		57879769	A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Missense_Mutation	SNP	superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_Methyltransf_12	p.R226G	ENST00000311506.5	37	c.676	CCDS45752.1	17	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417255	0.62622	.	.	ENSG00000087995	ENST00000311506	T	0.03801	3.8	4.48	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.32466	0.0830	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.48186	-0.9057	10	0.87932	D	0	-0.1491	11.5267	0.50584	0.1805:0.8194:0.0:0.0	.	362	Q96IZ6	MTL2A_HUMAN	G	362	ENSP00000309610:R362G	ENSP00000309610:R362G	R	+	1	2	METTL2A	57879769	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	3.732000	0.55021	0.856000	0.35383	0.505000	0.49811	CGG	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.542	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL2A	protein_coding	OTTHUMT00000445130.1	C	NM_181725		57879769	+1	no_errors	NM_181725	genbank	human	validated	54_36p	missense	SNP	1.000	G
DACT1	51339	genome.wustl.edu	37	14	59113731	59113731	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr14:59113731C>T	ENST00000335867.4	+	4	2414	c.2390C>T	c.(2389-2391)aCg>aTg	p.T797M	DACT1_ENST00000556859.1_Missense_Mutation_p.T516M|DACT1_ENST00000541264.2_Missense_Mutation_p.T516M|DACT1_ENST00000395153.3_Missense_Mutation_p.T760M			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	797					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CAAACGGTAACGGCCCCAGAC	0.527																																																0			14											96.0	101.0	99.0					14																	59113731		2203	4300	6503	58183484	SO:0001583	missense	51339			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2390C>T	14.37:g.59113731C>T	ENSP00000337439:p.Thr797Met		58183484	A8MYJ2|Q86TY0	Missense_Mutation	SNP	NULL	p.T797M	ENST00000335867.4	37	c.2390	CCDS9736.1	14	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338677	0.41398	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.44	4.55	0.56014	.	0.763660	0.12520	N	0.461733	T	0.54532	0.1864	L	0.53249	1.67	0.20563	N	0.999881	D;D	0.63046	0.992;0.992	P;P	0.53861	0.736;0.736	T	0.51204	-0.8735	10	0.66056	D	0.02	-0.0061	16.3888	0.83525	0.0:0.8682:0.1318:0.0	.	760;797	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	M	516;516;760;797;516	ENSP00000451598:T516M;ENSP00000378581:T516M;ENSP00000378582:T760M;ENSP00000337439:T797M;ENSP00000442850:T516M	ENSP00000337439:T797M	T	+	2	0	DACT1	58183484	0.047000	0.20315	0.002000	0.10522	0.312000	0.27988	3.623000	0.54224	1.522000	0.49001	0.655000	0.94253	ACG	-	NULL		0.527	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACT1	protein_coding	OTTHUMT00000325515.1	C	NM_016651		58183484	+1	no_errors	NM_016651	genbank	human	validated	54_36p	missense	SNP	0.028	T
ZNF512B	57473	genome.wustl.edu	37	20	62624829	62624829	+	Intron	SNP	A	A	C			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr20:62624829A>C	ENST00000450537.1	-	2	56				PRPF6_ENST00000535781.1_Silent_p.S143S|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AGCAGTTCTCAGACCTCAAGG	0.463																																																0			20											116.0	92.0	100.0					20																	62624829		2203	4300	6503	62095273	SO:0001627	intron_variant	24148			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-25521T>G	20.37:g.62624829A>C			62095273	Q08AK9|Q9ULM4	Silent	SNP	HMMPfam_PRP1_N,HMMSmart_HAT,superfamily_SSF48452,HMMPfam_TPR_1	p.S143	ENST00000450537.1	37	c.429	CCDS13548.1	20																																																																																			-	HMMPfam_PRP1_N		0.463	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF6	protein_coding	OTTHUMT00000080246.1	A	NM_020713		62095273	+1	no_errors	NM_012469	genbank	human	reviewed	54_36p	silent	SNP	1.000	C
SLC8A3	6547	genome.wustl.edu	37	14	70633718	70633718	+	Missense_Mutation	SNP	A	A	C			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr14:70633718A>C	ENST00000381269.2	-	2	2175	c.1422T>G	c.(1420-1422)ttT>ttG	p.F474L	SLC8A3_ENST00000357887.3_Missense_Mutation_p.F474L|SLC8A3_ENST00000356921.2_Missense_Mutation_p.F474L|SLC8A3_ENST00000528359.1_Missense_Mutation_p.F474L|SLC8A3_ENST00000534137.1_Missense_Mutation_p.F474L	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	474	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CATCCTCCTCAAAAATGTCGT	0.512																																																0			14											155.0	157.0	156.0					14																	70633718		2203	4300	6503	69703471	SO:0001583	missense	6547			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1422T>G	14.37:g.70633718A>C	ENSP00000370669:p.Phe474Leu		69703471	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	HMMPfam_Na_Ca_ex,HMMSmart_SM00237,HMMPfam_Calx-beta	p.F474L	ENST00000381269.2	37	c.1422	CCDS35498.1	14	.	.	.	.	.	.	.	.	.	.	A	15.25	2.778134	0.49786	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	5.52	1.87	0.25490	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.52709	0.1751	M	0.68317	2.08	0.80722	D	1	D;D;D;D	0.56521	0.97;0.976;0.958;0.958	D;D;D;D	0.74348	0.971;0.983;0.968;0.968	T	0.51498	-0.8698	10	0.87932	D	0	.	9.0908	0.36610	0.7885:0.0:0.2115:0.0	.	474;474;474;474	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	L	474	ENSP00000349392:F474L;ENSP00000370669:F474L;ENSP00000350560:F474L;ENSP00000436688:F474L;ENSP00000433531:F474L	ENSP00000349392:F474L	F	-	3	2	SLC8A3	69703471	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	1.377000	0.34317	0.365000	0.24400	-0.270000	0.10280	TTT	-	HMMSmart_SM00237,HMMPfam_Calx-beta		0.512	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC8A3	protein_coding	OTTHUMT00000390736.1	A			69703471	-1	no_errors	NM_183002	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
LRRC20	55222	genome.wustl.edu	37	10	72061135	72061135	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr10:72061135T>G	ENST00000355790.4	-	5	1007	c.530A>C	c.(529-531)gAa>gCa	p.E177A	LRRC20_ENST00000395011.1_Missense_Mutation_p.E127A|LRRC20_ENST00000395010.1_Missense_Mutation_p.E121A|LRRC20_ENST00000358141.2_Missense_Mutation_p.E127A|LRRC20_ENST00000373224.1_Missense_Mutation_p.E177A	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	177										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						TCTTGCGCCTTCCGGAGACAT	0.647																																																0			10											72.0	69.0	70.0					10																	72061135		2203	4300	6503	71731141	SO:0001583	missense	55222			BC024001	CCDS7300.1, CCDS7301.1, CCDS7302.1, CCDS73145.1	10q22.2	2004-04-15			ENSG00000172731	ENSG00000172731			23421	protein-coding gene	gene with protein product							Standard	NM_207119		Approved	FLJ10751, FLJ10844	uc031pvr.1	Q8TCA0	OTTHUMG00000018407	ENST00000355790.4:c.530A>C	10.37:g.72061135T>G	ENSP00000348043:p.Glu177Ala		71731141	Q5T6D4|Q5T6D6|Q9NVA6|Q9NVG3	Missense_Mutation	SNP	superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1	p.E177A	ENST00000355790.4	37	c.530	CCDS7302.1	10	.	.	.	.	.	.	.	.	.	.	T	13.59	2.281162	0.40394	.	.	ENSG00000172731	ENST00000373224;ENST00000355790;ENST00000395011;ENST00000395010;ENST00000358141;ENST00000357631	T;T;T;T	0.35973	1.28;1.28;2.21;2.21	5.55	5.55	0.83447	.	0.089312	0.48767	D	0.000179	T	0.43188	0.1236	L	0.27053	0.805	0.33310	D	0.566012	D;B;P	0.67145	0.996;0.286;0.734	D;B;B	0.73708	0.981;0.095;0.321	T	0.50406	-0.8832	10	0.21540	T	0.41	-16.806	12.0863	0.53700	0.0:0.0:0.0:1.0	.	127;121;177	Q8TCA0-2;Q8TCA0-3;Q8TCA0	.;.;LRC20_HUMAN	A	177;177;127;121;127;121	ENSP00000362321:E177A;ENSP00000348043:E177A;ENSP00000378458:E127A;ENSP00000350860:E127A	ENSP00000348043:E177A	E	-	2	0	LRRC20	71731141	0.997000	0.39634	0.849000	0.33467	0.189000	0.23516	4.051000	0.57412	2.118000	0.64928	0.533000	0.62120	GAA	-	NULL		0.647	LRRC20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC20	protein_coding	OTTHUMT00000048510.1	T	NM_018239		71731141	-1	no_errors	NM_207119	genbank	human	validated	54_36p	missense	SNP	0.916	G
SNX14	57231	genome.wustl.edu	37	6	86282043	86282043	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr6:86282043C>G	ENST00000314673.3	-	3	487	c.311G>C	c.(310-312)tGt>tCt	p.C104S	SNX14_ENST00000346348.3_Missense_Mutation_p.C104S|RP11-321N4.5_ENST00000503906.1_3'UTR|SNX14_ENST00000369627.2_Missense_Mutation_p.C104S|SNX14_ENST00000505648.1_Missense_Mutation_p.C52S|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Missense_Mutation_p.C104S	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	104					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CACTTTACCACAAACAGCACA	0.323																																																0			6											122.0	134.0	130.0					6																	86282043		2203	4300	6503	86338762	SO:0001583	missense	57231			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.311G>C	6.37:g.86282043C>G	ENSP00000313121:p.Cys104Ser		86338762	B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	HMMPfam_PXA,HMMSmart_SM00313,superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315,superfamily_PX domain,HMMSmart_SM00312,HMMPfam_PX,HMMPfam_Nexin_C	p.C104S	ENST00000314673.3	37	c.311	CCDS5004.1	6	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874476	0.72180	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216;ENST00000509338;ENST00000514419	T;T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.27489	0.0675	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.01858	-1.1259	10	0.09338	T	0.73	-12.0476	19.445	0.94843	0.0:1.0:0.0:0.0	.	104;104;104	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7	.;.;SNX14_HUMAN	S	104;104;104;52;104;31;52;103	ENSP00000257769:C104S;ENSP00000313121:C104S;ENSP00000420938:C104S;ENSP00000427380:C52S;ENSP00000358641:C104S;ENSP00000425630:C31S;ENSP00000424302:C52S;ENSP00000425387:C103S	ENSP00000313121:C104S	C	-	2	0	SNX14	86338762	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.815000	0.55651	2.603000	0.88011	0.491000	0.48974	TGT	-	NULL		0.323	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX14	protein_coding	OTTHUMT00000041393.2	C	NM_153816		86338762	-1	no_errors	NM_153816	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
TRRAP	8295	genome.wustl.edu	37	7	98574269	98574269	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr7:98574269A>G	ENST00000359863.4	+	54	8311	c.8102A>G	c.(8101-8103)aAc>aGc	p.N2701S	TRRAP_ENST00000446306.3_Missense_Mutation_p.N2683S|TRRAP_ENST00000355540.3_Missense_Mutation_p.N2683S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2701					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)			AAGACACACAACCTCTGGTTC	0.557																																																0			7											71.0	68.0	69.0					7																	98574269		2203	4300	6503	98412205	SO:0001583	missense	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.8102A>G	7.37:g.98574269A>G	ENSP00000352925:p.Asn2701Ser		98412205	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	superfamily_ARM repeat,PatternScan_COPPER_BLUE,superfamily_Protein prenylyltransferase,HMMPfam_FAT,superfamily_TPR-like,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,HMMPfam_FATC	p.N2683S	ENST00000359863.4	37	c.8048	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.183496|5.183496	0.94885|0.94885	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.47528|.	0.84;0.84|.	5.92|5.92	5.92|5.92	0.95590|0.95590	Armadillo-like helical (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76630|0.76630	0.4014|0.4014	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;P;P|.	0.65815|.	0.995;0.9;0.9|.	D;P;P|.	0.64144|.	0.922;0.521;0.598|.	T|T	0.77262|0.77262	-0.2653|-0.2653	10|5	0.72032|.	D|.	0.01|.	.|.	16.3634|16.3634	0.83296|0.83296	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	2683;2422;2701|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	S|A	2701;2683;2682|2423	ENSP00000352925:N2701S;ENSP00000347733:N2683S|.	ENSP00000347733:N2683S|.	N|T	+|+	2|1	0|0	TRRAP|TRRAP	98412205|98412205	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	9.040000|9.040000	0.93783|0.93783	2.270000|2.270000	0.75569|0.75569	0.459000|0.459000	0.35465|0.35465	AAC|ACC	-	superfamily_ARM repeat		0.557	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	protein_coding	OTTHUMT00000317978.1	A	NM_003496		98412205	+1	no_errors	NM_003496	genbank	human	validated	54_36p	missense	SNP	1.000	G
TMOD1	7111	genome.wustl.edu	37	9	100353682	100353682	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr9:100353682G>A	ENST00000259365.4	+	9	1193	c.980G>A	c.(979-981)cGg>cAg	p.R327Q	TMOD1_ENST00000395211.2_Missense_Mutation_p.R327Q|TMOD1_ENST00000375175.1_Missense_Mutation_p.R200Q	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	327					adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		CCCCGGCTTCGGGCATCCAAC	0.502																																																0			9											99.0	97.0	98.0					9																	100353682		2203	4300	6503	99393503	SO:0001583	missense	7111				CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.980G>A	9.37:g.100353682G>A	ENSP00000259365:p.Arg327Gln		99393503	B2RB77|Q5T7W3|Q9BUF1	Missense_Mutation	SNP	HMMPfam_Tropomodulin,superfamily_SSF52047	p.R327Q	ENST00000259365.4	37	c.980	CCDS6726.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.810326	0.96975	.	.	ENSG00000136842	ENST00000395211;ENST00000259365;ENST00000375175	D;D;D	0.91686	-2.89;-2.89;-2.89	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000002	D	0.95850	0.8649	M	0.82517	2.595	0.80722	D	1	D	0.71674	0.998	P	0.60012	0.867	D	0.96179	0.9129	10	0.87932	D	0	-14.6462	18.9948	0.92809	0.0:0.0:1.0:0.0	.	327	P28289	TMOD1_HUMAN	Q	327;327;200	ENSP00000378637:R327Q;ENSP00000259365:R327Q;ENSP00000364318:R200Q	ENSP00000259365:R327Q	R	+	2	0	TMOD1	99393503	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.680000	0.91292	0.467000	0.42956	CGG	-	HMMPfam_Tropomodulin,superfamily_SSF52047		0.502	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMOD1	protein_coding	OTTHUMT00000053320.2	G	NM_003275		99393503	+1	no_errors	NM_003275	genbank	human	provisional	54_36p	missense	SNP	1.000	A
RCOR1	23186	genome.wustl.edu	37	14	103180760	103180760	+	Splice_Site	SNP	G	G	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr14:103180760G>A	ENST00000570597.1	+	8	850	c.850G>A	c.(850-852)Gtt>Att	p.V284I	RCOR1_ENST00000262241.6_Splice_Site_p.V287I			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	284					blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						TATCATGCAGGTTCCCCCTAC	0.338																																																0			14											48.0	44.0	45.0					14																	103180760		2203	4300	6503	102250513	SO:0001630	splice_region_variant	23186			AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.850-1G>A	14.37:g.103180760G>A			102250513	Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	HMMPfam_ELM2,superfamily_Homeodomain_like,HMMSmart_SANT,HMMPfam_Myb_DNA-binding	p.V284I	ENST00000570597.1	37	c.850		14	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045837	0.36085	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.93	5.93	0.95920	.	0.259771	0.38005	N	0.001850	T	0.59155	0.2173	L	0.44542	1.39	0.80722	D	1	P	0.52170	0.951	P	0.46718	0.525	T	0.54583	-0.8272	8	.	.	.	-13.3642	20.3311	0.98718	0.0:0.0:1.0:0.0	.	284	Q9UKL0	RCOR1_HUMAN	I	284	.	.	V	+	1	0	RCOR1	102250513	1.000000	0.71417	0.996000	0.52242	0.076000	0.17211	7.124000	0.77185	2.797000	0.96272	0.655000	0.94253	GTT	-	NULL		0.338	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	RCOR1	protein_coding		G	NM_015156	Missense_Mutation	102250513	+1	no_errors	NM_015156	genbank	human	validated	54_36p	missense	SNP	1.000	A
PMPCB	9512	genome.wustl.edu	37	7	102944373	102944373	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr7:102944373A>T	ENST00000249269.4	+	5	580	c.542A>T	c.(541-543)gAg>gTg	p.E181V	PMPCB_ENST00000428154.1_Missense_Mutation_p.E181V|PMPCB_ENST00000420236.2_Missense_Mutation_p.E76V	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	181					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATCCTTAGAGAGATGCAGGAA	0.368																																																0			7											111.0	106.0	108.0					7																	102944373		2203	4300	6503	102731609	SO:0001583	missense	9512			AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.542A>T	7.37:g.102944373A>T	ENSP00000249269:p.Glu181Val		102731609	O60416|Q96FV4	Missense_Mutation	SNP	superfamily_Metalloenz_metal-bd,HMMPfam_Peptidase_M16,PatternScan_INSULINASE,HMMPfam_Peptidase_M16_C	p.E181V	ENST00000249269.4	37	c.542	CCDS5730.1	7	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816838	0.90790	.	.	ENSG00000105819	ENST00000249269;ENST00000428154;ENST00000420236	T;T;T	0.28895	1.59;1.59;1.59	5.39	5.39	0.77823	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78444	0.4284	H	0.99989	5.305	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.89819	0.3987	10	0.87932	D	0	.	15.4162	0.74970	1.0:0.0:0.0:0.0	.	76;76;181;181;172;181;181	E7ERZ4;B4DM90;A8K1E9;B3KM34;Q96CP5;O75439;G3V0E4	.;.;.;.;.;MPPB_HUMAN;.	V	181;181;76	ENSP00000249269:E181V;ENSP00000390035:E181V;ENSP00000410393:E76V	ENSP00000249269:E181V	E	+	2	0	PMPCB	102731609	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.040000	0.60383	0.528000	0.53228	GAG	-	superfamily_Metalloenz_metal-bd,HMMPfam_Peptidase_M16		0.368	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMPCB	protein_coding	OTTHUMT00000347913.1	A	NM_004279		102731609	+1	no_errors	NM_004279	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
IL1RAPL2	26280	genome.wustl.edu	37	X	105011288	105011288	+	Silent	SNP	T	T	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chrX:105011288T>A	ENST00000372582.1	+	11	2451	c.1695T>A	c.(1693-1695)ccT>ccA	p.P565P	IL1RAPL2_ENST00000344799.4_Silent_p.P565P	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	565					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAATGCTACCTCGGTGCCATG	0.438																																																0			X											85.0	88.0	87.0					X																	105011288		2203	4300	6503	104897944	SO:0001819	synonymous_variant	26280			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1695T>A	X.37:g.105011288T>A			104897944	Q2M3U3|Q9NZN0	Silent	SNP	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR	p.P565	ENST00000372582.1	37	c.1695	CCDS14517.1	X																																																																																			-	NULL		0.438	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL2	protein_coding	OTTHUMT00000057785.1	T	NM_017416		104897944	+1	no_errors	NM_017416	genbank	human	reviewed	54_36p	silent	SNP	0.992	A
DRD2	1813	genome.wustl.edu	37	11	113295109	113295109	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr11:113295109G>A	ENST00000362072.3	-	2	609	c.265C>T	c.(265-267)Ccc>Tcc	p.P89S	DRD2_ENST00000355319.2_Missense_Mutation_p.P89S|DRD2_ENST00000346454.3_Missense_Mutation_p.P89S|DRD2_ENST00000538967.1_Missense_Mutation_p.P89S|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000544518.1_Missense_Mutation_p.P89S|DRD2_ENST00000542968.1_Missense_Mutation_p.P89S	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	89					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ACAACCCAGGGCATGACCAGT	0.642																																																0			11											72.0	61.0	65.0					11																	113295109		2201	4296	6497	112800319	SO:0001583	missense	1813			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.265C>T	11.37:g.113295109G>A	ENSP00000354859:p.Pro89Ser		112800319	Q9NZR3|Q9UPA9	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.P89S	ENST00000362072.3	37	c.265	CCDS8361.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.151678	0.94645	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967;ENST00000543292	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.82518	0.5054	H	0.98996	4.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.91635	0.998;0.998;0.974;0.999	D	0.90050	0.4148	10	0.87932	D	0	.	18.9437	0.92613	0.0:0.0:1.0:0.0	.	89;89;89;89	F8VUV1;P14416-3;P14416-2;P14416	.;.;.;DRD2_HUMAN	S	89	ENSP00000347474:P89S;ENSP00000278597:P89S;ENSP00000354859:P89S;ENSP00000441068:P89S;ENSP00000442172:P89S;ENSP00000438215:P89S;ENSP00000438419:P89S	ENSP00000278597:P89S	P	-	1	0	DRD2	112800319	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.791000	0.99081	2.469000	0.83416	0.561000	0.74099	CCC	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.642	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRD2	protein_coding	OTTHUMT00000395834.1	G	NM_000795		112800319	-1	no_errors	NM_000795	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ZNF80	7634	genome.wustl.edu	37	3	113955434	113955434	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr3:113955434C>T	ENST00000482457.2	-	1	991	c.488G>A	c.(487-489)tGc>tAc	p.C163Y	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	163					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)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				ACATTCTTTGCACCCAAAGAG	0.488																																					GBM(23;986 1114 21716)											0			3											100.0	105.0	103.0					3																	113955434		2203	4300	6503	115438124	SO:0001583	missense	7634			X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.488G>A	3.37:g.113955434C>T	ENSP00000417192:p.Cys163Tyr		115438124	Q6NSW4|Q6NT14	Missense_Mutation	SNP	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.C163Y	ENST00000482457.2	37	c.488	CCDS2979.1	3	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194327	0.58017	.	.	ENSG00000174255	ENST00000482457	D	0.85088	-1.94	3.09	2.18	0.27775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92312	0.7561	M	0.88241	2.94	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82655	-0.0350	9	0.72032	D	0.01	.	9.5344	0.39213	0.2117:0.7883:0.0:0.0	.	163	P51504	ZNF80_HUMAN	Y	163	ENSP00000417192:C163Y	ENSP00000309812:C163Y	C	-	2	0	ZNF80	115438124	0.603000	0.26924	0.001000	0.08648	0.353000	0.29299	2.482000	0.45224	0.826000	0.34661	0.561000	0.74099	TGC	-	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1		0.488	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF80	protein_coding	OTTHUMT00000354696.2	C	NM_007136		115438124	-1	no_errors	NM_007136	genbank	human	validated	54_36p	missense	SNP	0.204	T
UPF3B	65109	genome.wustl.edu	37	X	118972370	118972370	+	Nonsense_Mutation	SNP	T	T	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chrX:118972370T>A	ENST00000276201.2	-	9	1036	c.967A>T	c.(967-969)Aag>Tag	p.K323*	UPF3B_ENST00000345865.2_Nonsense_Mutation_p.K310*|UPF3B_ENST00000478840.1_5'UTR	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	323	Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TCAGAACGCTTGGGCAATGTA	0.378																																																0			X											179.0	148.0	159.0					X																	118972370		2203	4300	6503	118856398	SO:0001587	stop_gained	65109			AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.967A>T	X.37:g.118972370T>A	ENSP00000276201:p.Lys323*		118856398	D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Nonsense_Mutation	SNP	HMMPfam_Smg4_UPF3,superfamily_RNA-binding domain RBD	p.K323*	ENST00000276201.2	37	c.967	CCDS14588.1	X	.	.	.	.	.	.	.	.	.	.	T	35	5.422595	0.96111	.	.	ENSG00000125351	ENST00000276201;ENST00000345865	.	.	.	5.61	5.61	0.85477	.	0.206543	0.50627	D	0.000118	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5745	0.61866	0.0:0.0:0.0:1.0	.	.	.	.	X	323;310	.	ENSP00000276201:K323X	K	-	1	0	UPF3B	118856398	1.000000	0.71417	0.258000	0.24420	0.923000	0.55619	5.074000	0.64401	1.885000	0.54596	0.427000	0.28365	AAG	-	NULL		0.378	UPF3B-001	KNOWN	basic|CCDS	protein_coding	UPF3B	protein_coding	OTTHUMT00000058068.1	T			118856398	-1	no_errors	NM_080632	genbank	human	reviewed	54_36p	nonsense	SNP	0.999	A
PTPN4	5775	genome.wustl.edu	37	2	120640100	120640100	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr2:120640100A>T	ENST00000263708.2	+	8	1259	c.488A>T	c.(487-489)cAg>cTg	p.Q163L		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	163	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GACTACGATCAGTCAGAGAAC	0.308																																																0			2											29.0	29.0	29.0					2																	120640100		2192	4284	6476	120356570	SO:0001583	missense	5775				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.488A>T	2.37:g.120640100A>T	ENSP00000263708:p.Gln163Leu		120356570	B2RBV8|Q9UDA7	Missense_Mutation	SNP	HMMSmart_B41,superfamily_SSF54236,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_FERM_3-hlx,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_SSF50729,HMMPfam_FERM_C,HMMPfam_FA,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_SSF52799,HMMSmart_PTPc,HMMPfam_Y_phosphatase,PatternScan_TYR_PHOSPHATASE_1	p.Q163L	ENST00000263708.2	37	c.488	CCDS2129.1	2	.	.	.	.	.	.	.	.	.	.	A	14.92	2.679107	0.47886	.	.	ENSG00000088179	ENST00000263708	T	0.79141	-1.24	5.73	5.73	0.89815	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.219160	0.47455	D	0.000223	T	0.66665	0.2812	N	0.26042	0.785	0.80722	D	1	B	0.06786	0.001	B	0.16722	0.016	T	0.62845	-0.6768	10	0.44086	T	0.13	.	11.7303	0.51732	0.868:0.0:0.0:0.132	.	163	P29074	PTN4_HUMAN	L	163	ENSP00000263708:Q163L	ENSP00000263708:Q163L	Q	+	2	0	PTPN4	120356570	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.503000	0.66962	2.187000	0.69744	0.482000	0.46254	CAG	-	HMMSmart_B41,superfamily_FERM_3-hlx,HMMPfam_FERM_M		0.308	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN4	protein_coding	OTTHUMT00000254233.2	A			120356570	+1	no_errors	NM_002830	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
POPDC2	64091	genome.wustl.edu	37	3	119379141	119379141	+	Missense_Mutation	SNP	C	C	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr3:119379141C>A	ENST00000264231.3	-	1	296	c.130G>T	c.(130-132)Ggc>Tgc	p.G44C	POPDC2_ENST00000493094.1_Missense_Mutation_p.G44C|POPDC2_ENST00000474523.1_Intron|POPDC2_ENST00000468801.1_Missense_Mutation_p.G44C|POPDC2_ENST00000538678.1_Missense_Mutation_p.G44C	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	44					regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		ACCCCACTGCCCCCCATGAAG	0.567																																																0			3											96.0	86.0	89.0					3																	119379141		2203	4300	6503	120861831	SO:0001583	missense	64091			AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.130G>T	3.37:g.119379141C>A	ENSP00000264231:p.Gly44Cys		120861831	Q86UE7	Missense_Mutation	SNP	HMMPfam_Popeye,superfamily_cAMP-binding domain-like	p.G44C	ENST00000264231.3	37	c.130	CCDS2992.1	3	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046749	0.93740	.	.	ENSG00000121577	ENST00000264231;ENST00000493094;ENST00000468801;ENST00000538678	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.79	5.79	0.91817	.	0.046859	0.85682	D	0.000000	T	0.69178	0.3082	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70930	-0.4738	10	0.62326	D	0.03	.	20.031	0.97536	0.0:1.0:0.0:0.0	.	44;44	Q9HBU9-2;Q9HBU9	.;POPD2_HUMAN	C	44	ENSP00000264231:G44C;ENSP00000417250:G44C;ENSP00000420715:G44C;ENSP00000438271:G44C	ENSP00000264231:G44C	G	-	1	0	POPDC2	120861831	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.814000	0.86154	2.735000	0.93741	0.655000	0.94253	GGC	-	NULL		0.567	POPDC2-002	KNOWN	basic|CCDS	protein_coding	POPDC2	protein_coding	OTTHUMT00000355378.1	C	NM_022135		120861831	-1	no_errors	NM_022135	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
LAMA2	3908	genome.wustl.edu	37	6	129609120	129609120	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr6:129609120G>A	ENST00000421865.2	+	19	2715	c.2666G>A	c.(2665-2667)tGt>tAt	p.C889Y		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	889	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGTCTGATATGTAAACCAGGT	0.488																																																0			6											282.0	235.0	251.0					6																	129609120		2203	4300	6503	129650813	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2666G>A	6.37:g.129609120G>A	ENSP00000400365:p.Cys889Tyr		129650813	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	HMMSmart_LamNT,HMMPfam_Laminin_N,superfamily_Gal_bind_like,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_ConA_like_lec_gl,PatternScan_EGF_1,PatternScan_EGF_LAM_1,superfamily_SSF57196,PatternScan_EGF_2,HMMSmart_LamB,HMMPfam_Laminin_B,HMMPfam_Laminin_I,superfamily_SSF56399,HMMPfam_Laminin_II,HMMSmart_LamG,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2	p.C889Y	ENST00000421865.2	37	c.2666	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801641	0.90538	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	D	0.94330	-3.4	5.93	5.93	0.95920	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.98365	0.9457	H	0.98314	4.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	D	0.98977	1.0803	10	0.72032	D	0.01	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	889;889	A6NF00;P24043	.;LAMA2_HUMAN	Y	889	ENSP00000400365:C889Y	ENSP00000346769:C889Y	C	+	2	0	LAMA2	129650813	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.798000	0.96311	0.655000	0.94253	TGT	-	superfamily_ConA_like_lec_gl,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_LAM_1		0.488	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	protein_coding	OTTHUMT00000042180.1	G			129650813	+1	no_errors	NM_000426	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
OPCML	4978	genome.wustl.edu	37	11	132290133	132290133	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr11:132290133A>T	ENST00000331898.7	-	7	1570	c.992T>A	c.(991-993)cTc>cAc	p.L331H	OPCML_ENST00000524381.1_Missense_Mutation_p.L324H|OPCML_ENST00000541867.1_Missense_Mutation_p.L340H|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Missense_Mutation_p.L290H	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	331					cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TGATAGCCAGAGACAAGCCAG	0.502																																																0			11											126.0	105.0	112.0					11																	132290133		2201	4297	6498	131795343	SO:0001583	missense	4978			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.992T>A	11.37:g.132290133A>T	ENSP00000330862:p.Leu331His		131795343	B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_I-set,HMMPfam_ig	p.L331H	ENST00000331898.7	37	c.992	CCDS8492.1	11	.	.	.	.	.	.	.	.	.	.	A	19.31	3.802891	0.70682	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.64803	0.26;0.23;0.44;-0.12	5.34	5.34	0.76211	.	0.567977	0.15924	N	0.237972	T	0.72137	0.3423	L	0.48642	1.525	0.42403	D	0.992573	D;D;D;D	0.71674	0.998;0.996;0.996;0.996	D;P;P;P	0.64595	0.927;0.88;0.88;0.88	T	0.73681	-0.3906	10	0.72032	D	0.01	-7.9476	13.5661	0.61819	1.0:0.0:0.0:0.0	.	340;324;330;331	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	H	331;324;290;298;340	ENSP00000330862:L331H;ENSP00000434750:L324H;ENSP00000363910:L290H;ENSP00000445496:L340H	ENSP00000330862:L331H	L	-	2	0	OPCML	131795343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.605000	0.67634	2.025000	0.59659	0.460000	0.39030	CTC	-	NULL		0.502	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPCML	protein_coding	OTTHUMT00000374689.3	A	NM_001012393		131795343	-1	no_errors	NM_002545	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
SLC13A4	26266	genome.wustl.edu	37	7	135366378	135366378	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr7:135366378A>T	ENST00000354042.4	-	16	2503	c.1814T>A	c.(1813-1815)gTt>gAt	p.V605D	SLC13A4_ENST00000491630.1_5'UTR|C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	605					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GAAGAGGCTAACTCCCCAGGT	0.542																																																0			7											192.0	136.0	155.0					7																	135366378		2203	4300	6503	135016918	SO:0001583	missense	26266			AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.1814T>A	7.37:g.135366378A>T	ENSP00000297282:p.Val605Asp		135016918	A4D1Q4|Q8N631	Missense_Mutation	SNP	HMMPfam_Na_sulph_symp	p.V605D	ENST00000354042.4	37	c.1814	CCDS5840.1	7	.	.	.	.	.	.	.	.	.	.	A	14.62	2.588577	0.46110	.	.	ENSG00000164707	ENST00000354042	T	0.02787	4.16	5.25	5.25	0.73442	.	0.702191	0.13682	N	0.370118	T	0.06645	0.0170	L	0.51853	1.615	0.27531	N	0.951082	P;B	0.41475	0.751;0.4	P;B	0.46850	0.529;0.405	T	0.20672	-1.0268	10	0.37606	T	0.19	.	13.1657	0.59569	1.0:0.0:0.0:0.0	.	474;605	Q59HF0;Q9UKG4	.;S13A4_HUMAN	D	605	ENSP00000297282:V605D	ENSP00000297282:V605D	V	-	2	0	SLC13A4	135016918	0.860000	0.29831	0.853000	0.33588	0.976000	0.68499	4.059000	0.57470	2.214000	0.71695	0.528000	0.53228	GTT	-	HMMPfam_Na_sulph_symp		0.542	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A4	protein_coding	OTTHUMT00000340558.1	A	NM_012450		135016918	-1	no_errors	NM_012450	genbank	human	validated	54_36p	missense	SNP	0.217	T
PARP12	64761	genome.wustl.edu	37	7	139724414	139724414	+	Silent	SNP	C	C	G			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr7:139724414C>G	ENST00000263549.3	-	12	2925	c.2052G>C	c.(2050-2052)tcG>tcC	p.S684S		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	684	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					AGGGTGTGACCGAGGGCTTGG	0.567																																																0			7											140.0	112.0	122.0					7																	139724414		2203	4300	6503	139370883	SO:0001819	synonymous_variant	64761			AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.2052G>C	7.37:g.139724414C>G			139370883	Q9H610|Q9NP36|Q9NTI3	Silent	SNP	HMMPfam_zf-CCCH,HMMSmart_SM00356,superfamily_CCCH zinc finger,superfamily_ADP-ribosylation,HMMPfam_PARP	p.S684	ENST00000263549.3	37	c.2052	CCDS5857.1	7	.	.	.	.	.	.	.	.	.	.	C	4.740	0.137573	0.09032	.	.	ENSG00000059378	ENST00000541746	.	.	.	4.67	-9.35	0.00633	.	.	.	.	.	T	0.29783	0.0744	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.45440	-0.9261	5	0.72032	D	0.01	.	4.1623	0.10289	0.194:0.1297:0.0963:0.58	.	.	.	.	P	68	.	ENSP00000445106:R68P	R	-	2	0	PARP12	139370883	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-3.268000	0.00533	-2.059000	0.00894	-0.136000	0.14681	CGG	-	superfamily_ADP-ribosylation		0.567	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP12	protein_coding	OTTHUMT00000348413.1	C	NM_022750		139370883	-1	no_errors	NM_022750	genbank	human	provisional	54_36p	silent	SNP	0.000	G
ARAP3	64411	genome.wustl.edu	37	5	141052463	141052463	+	Nonsense_Mutation	SNP	G	G	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr5:141052463G>A	ENST00000239440.4	-	8	1188	c.1123C>T	c.(1123-1125)Cag>Tag	p.Q375*	ARAP3_ENST00000513878.1_Nonsense_Mutation_p.Q37*|ARAP3_ENST00000508305.1_Nonsense_Mutation_p.Q297*	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	375	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AGACAGGACTGCAGCGTGGAG	0.682																																																0			5											25.0	24.0	24.0					5																	141052463		2203	4298	6501	141032647	SO:0001587	stop_gained	64411			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1123C>T	5.37:g.141052463G>A	ENSP00000239440:p.Gln375*		141032647	B4DIT1|D3DQE3	Nonsense_Mutation	SNP	HMMSmart_SAM,superfamily_SAM_homology,HMMPfam_SAM_2,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_ArfGAP,HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_Rho_GAP,HMMSmart_RhoGAP,HMMPfam_RhoGAP,HMMPfam_RA	p.Q375*	ENST00000239440.4	37	c.1123	CCDS4266.1	5	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654359	0.88056	.	.	ENSG00000120318	ENST00000522690;ENST00000508305;ENST00000239440;ENST00000513878;ENST00000504448	.	.	.	4.35	4.35	0.52113	.	0.144459	0.47455	D	0.000233	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	14.8064	0.69959	0.0:0.0:1.0:0.0	.	.	.	.	X	294;297;375;37;375	.	ENSP00000239440:Q375X	Q	-	1	0	ARAP3	141032647	1.000000	0.71417	0.858000	0.33744	0.212000	0.24457	8.478000	0.90428	2.247000	0.74100	0.462000	0.41574	CAG	-	superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH		0.682	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP3	protein_coding	OTTHUMT00000251805.1	G	NM_022481		141032647	-1	no_errors	NM_022481	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
MGAM2	93432	genome.wustl.edu	37	7	141889244	141889244	+	Missense_Mutation	SNP	C	C	G	rs76437729	byFrequency	TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr7:141889244C>G	ENST00000477922.3	+	37	4339	c.4285C>G	c.(4285-4287)Ccc>Gcc	p.P1429A																	endometrium(1)|lung(5)	6						GGACAGCTCCCCCGTGGAGCA	0.517													C|||	394	0.0786741	0.1596	0.0216	5008	,	,		18027	0.1508		0.002	False		,,,				2504	0.0143															0			7																																								141535713	SO:0001583	missense	0																														ENST00000477922.3:c.4285C>G	7.37:g.141889244C>G	ENSP00000420449:p.Pro1429Ala		141535713		Missense_Mutation	SNP	HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases,PatternScan_GLYCOSYL_HYDROL_F31_1,PatternScan_N6_MTASE	p.P356A	ENST00000477922.3	37	c.1066		7	190	0.08699633699633699	86	0.17479674796747968	8	0.022099447513812154	93	0.16258741258741258	3	0.00395778364116095	C	0.006	-2.112530	0.00353	.	.	ENSG00000257743	ENST00000477922;ENST00000550494	.	.	.	4.58	-0.718	0.11205	.	1.848550	0.02871	N	0.131642	T	0.00073	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	T	0.09122	-1.0689	5	0.36615	T	0.2	.	4.2867	0.10858	0.3915:0.4054:0.127:0.0762	.	.	.	.	A	1397;356	.	ENSP00000367474:P356A	P	+	1	0	RP11-1220K2.2	141535713	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	0.179000	0.16840	-0.237000	0.09739	-2.081000	0.00379	CCC	-	HMMPfam_Glyco_hydro_31		0.517	RP11-1220K2.2-003	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	ENSG00000204987	protein_coding	OTTHUMT00000351325.3	C			141535713	+1	no_stop_codon	ENST00000378229	ensembl	human	known	54_36p	missense	SNP	0.003	G
FLG	2312	genome.wustl.edu	37	1	152284628	152284628	+	Missense_Mutation	SNP	G	G	A	rs147145635		TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr1:152284628G>A	ENST00000368799.1	-	3	2769	c.2734C>T	c.(2734-2736)Cgt>Tgt	p.R912C	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	912	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCATGGTGACGTGACCCTGAG	0.567									Ichthyosis				-|||	1	0.000199681	0.0	0.0	5008	,	,		21118	0.0		0.001	False		,,,				2504	0.0															0			1						G	CYS/ARG	1,4405		0,1,2202	385.0	363.0	370.0		2734	-2.3	0.0	1	dbSNP_134	370	17,8583		0,17,4283	yes	missense	FLG	NM_002016.1	180	0,18,6485	AA,AG,GG		0.1977,0.0227,0.1384	probably-damaging	912/4062	152284628	18,12988	2203	4300	6503	150551252	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2734C>T	1.37:g.152284628G>A	ENSP00000357789:p.Arg912Cys		150551252	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_Filaggrin	p.R912C	ENST00000368799.1	37	c.2734	CCDS30860.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	-	4.416	0.076815	0.08485	2.27E-4	0.001977	ENSG00000143631	ENST00000368799	T	0.02446	4.29	2.3	-2.27	0.06846	.	.	.	.	.	T	0.01835	0.0058	M	0.65975	2.015	0.09310	N	1	D	0.76494	0.999	P	0.46659	0.523	T	0.40701	-0.9549	9	0.41790	T	0.15	.	9.1447	0.36925	0.0:0.6868:0.3132:0.0	.	912	P20930	FILA_HUMAN	C	912	ENSP00000357789:R912C	ENSP00000357789:R912C	R	-	1	0	FLG	150551252	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.326000	0.07965	-0.352000	0.08237	0.479000	0.44913	CGT	-	HMMPfam_Filaggrin		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	G	NM_002016		150551252	-1	no_errors	NM_002016	genbank	human	provisional	54_36p	missense	SNP	0.003	A
SLC36A1	206358	genome.wustl.edu	37	5	150846759	150846759	+	Splice_Site	SNP	G	G	C			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr5:150846759G>C	ENST00000243389.3	+	6	642		c.e6-1		SLC36A1_ENST00000521925.1_Splice_Site|SLC36A1_ENST00000429484.2_Splice_Site|SLC36A1_ENST00000520701.1_Splice_Site	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1						amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)	p.?(1)		endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	CCCACCTCCAGACGTGTTGTG	0.423																																					Melanoma(151;1534 1860 12947 32979 37872)											1	Unknown(1)	lung(1)	5											187.0	173.0	178.0					5																	150846759		2203	4300	6503	150826952	SO:0001630	splice_region_variant	206358			AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"""Solute carriers"""	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.420-1G>C	5.37:g.150846759G>C			150826952	C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Splice_Site	SNP	-	e5-1	ENST00000243389.3	37	c.420-1	CCDS4316.1	5	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505001	0.44558	.	.	ENSG00000123643	ENST00000520701;ENST00000429484;ENST00000243389;ENST00000456739;ENST00000521925	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5913	0.91214	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC36A1	150826952	1.000000	0.71417	0.990000	0.47175	0.224000	0.24922	9.113000	0.94321	2.614000	0.88457	0.563000	0.77884	.	-	-		0.423	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A1	protein_coding	OTTHUMT00000252433.1	G	NM_078483	Intron	150826952	+1	no_errors	NM_078483	genbank	human	reviewed	54_36p	splice_site	SNP	0.998	C
KMT2C	58508	genome.wustl.edu	37	7	151917707	151917707	+	Nonsense_Mutation	SNP	T	T	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr7:151917707T>A	ENST00000262189.6	-	23	3831	c.3613A>T	c.(3613-3615)Aaa>Taa	p.K1205*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.K1205*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1205					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)										ATCTTCAATTTCAATTTTGGT	0.433																																																0			7											105.0	97.0	100.0					7																	151917707		2203	4300	6503	151548640	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.3613A>T	7.37:g.151917707T>A	ENSP00000262189:p.Lys1205*		151548640	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	PatternScan_HMGI_Y,HMMPfam_AT_hook,HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,HMMPfam_PHD,HMMSmart_SM00184,PatternScan_ZF_PHD_1,PatternScan_ATPASE_ALPHA_BETA,HMMSmart_SM00398,HMMPfam_HMG_box,HMMPfam_FYRN,HMMSmart_SM00541,HMMPfam_FYRC,HMMSmart_SM00542,superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00508	p.K1205*	ENST00000262189.6	37	c.3613	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	T	44	10.977353	0.99498	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	4.44	4.44	0.53790	.	0.000000	0.46442	U	0.000297	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.977	0.64279	0.0:0.0:0.0:1.0	.	.	.	.	X	1205	.	ENSP00000262189:K1205X	K	-	1	0	MLL3	151548640	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.599000	0.82757	1.753000	0.51906	0.397000	0.26171	AAA	-	NULL		0.433	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	protein_coding	OTTHUMT00000318887.3	T			151548640	-1	no_errors	NM_170606	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
RIF1	55183	genome.wustl.edu	37	2	152293851	152293851	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr2:152293851G>C	ENST00000243326.5	+	12	1952	c.1469G>C	c.(1468-1470)gGa>gCa	p.G490A	RIF1_ENST00000453091.2_Missense_Mutation_p.G490A|RIF1_ENST00000428287.2_Missense_Mutation_p.G490A|RIF1_ENST00000444746.2_Missense_Mutation_p.G490A|RIF1_ENST00000430328.2_Missense_Mutation_p.G490A|RIF1_ENST00000433166.2_3'UTR			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GTTGCAGTTGGAAAAGATGCC	0.383																																																0			2											91.0	88.0	89.0					2																	152293851		2203	4300	6503	152002097	SO:0001583	missense	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.1469G>C	2.37:g.152293851G>C	ENSP00000243326:p.Gly490Ala		152002097	A0AVS0|Q9NS16	Missense_Mutation	SNP	superfamily_ARM repeat,PatternScan_ABC_TRANSPORTER_1	p.G490A	ENST00000243326.5	37	c.1469	CCDS2194.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.23|13.23	2.173934|2.173934	0.38413|0.38413	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328|ENST00000414861	T;T;T;T;T|.	0.62639|.	0.01;0.01;0.01;0.01;0.01|.	5.58|5.58	3.77|3.77	0.43336|0.43336	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64260|0.64260	0.2582|0.2582	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.61826|0.61826	-0.6983|-0.6983	10|5	0.37606|.	T|.	0.19|.	-16.2631|-16.2631	10.4612|10.4612	0.44581|0.44581	0.0699:0.0:0.7954:0.1347|0.0699:0.0:0.7954:0.1347	.|.	490;490|.	Q5UIP0;Q5UIP0-2|.	RIF1_HUMAN;.|.	A|C	490|481	ENSP00000390181:G490A;ENSP00000414615:G490A;ENSP00000415691:G490A;ENSP00000243326:G490A;ENSP00000416123:G490A|.	ENSP00000243326:G490A|.	G|W	+|+	2|3	0|0	RIF1|RIF1	152002097|152002097	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.040000|0.040000	0.13550|0.13550	7.354000|7.354000	0.79424|0.79424	0.827000|0.827000	0.34685|0.34685	-0.319000|-0.319000	0.08680|0.08680	GGA|TGG	-	superfamily_ARM repeat		0.383	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	protein_coding	OTTHUMT00000254836.3	G			152002097	+1	no_errors	NM_018151	genbank	human	validated	54_36p	missense	SNP	1.000	C
SI	6476	genome.wustl.edu	37	3	164741547	164741547	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr3:164741547T>A	ENST00000264382.3	-	26	2972	c.2910A>T	c.(2908-2910)aaA>aaT	p.K970N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	970	Isomaltase.|P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				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)	ACTCAGGTGCTTTGGATAGAG	0.363										HNSCC(35;0.089)																																						0			3											82.0	79.0	80.0					3																	164741547		2203	4300	6503	166224241	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.2910A>T	3.37:g.164741547T>A	ENSP00000264382:p.Lys970Asn		166224241	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	HMMSmart_SM00018,superfamily_Trefoil,HMMPfam_Trefoil,PatternScan_P_TREFOIL,HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases,PatternScan_GLYCOSYL_HYDROL_F31_1,PatternScan_GLYCOSYL_HYDROL_F31_2	p.K970N	ENST00000264382.3	37	c.2910	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	T	6.732	0.503878	0.12822	.	.	ENSG00000090402	ENST00000264382	T	0.52983	0.64	5.23	-4.06	0.03986	Glycoside hydrolase-type carbohydrate-binding (1);P-type trefoil (4);	1.311370	0.04460	N	0.374192	T	0.19127	0.0459	N	0.02985	-0.445	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.09465	-1.0673	10	0.27785	T	0.31	.	2.6558	0.05012	0.4535:0.0664:0.1836:0.2965	.	970	P14410	SUIS_HUMAN	N	970	ENSP00000264382:K970N	ENSP00000264382:K970N	K	-	3	2	SI	166224241	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.095000	0.11077	-0.365000	0.08076	-1.063000	0.02288	AAA	-	HMMSmart_SM00018,superfamily_Trefoil		0.363	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	protein_coding	OTTHUMT00000350116.1	T	NM_001041		166224241	-1	no_errors	NM_001041	genbank	human	validated	54_36p	missense	SNP	0.000	A
RGS1	5996	genome.wustl.edu	37	1	192547373	192547373	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr1:192547373G>C	ENST00000367459.3	+	4	368	c.302G>C	c.(301-303)aGt>aCt	p.S101T	RGS1_ENST00000469578.2_Missense_Mutation_p.S101T	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	101	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|immune response (GO:0006955)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				GTCTTTGGAAGTTTCCTAAAG	0.363																																																0			1											148.0	157.0	154.0					1																	192547373		2203	4300	6503	190813996	SO:0001583	missense	5996			AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104		"""Regulators of G-protein signaling"""	9991	protein-coding gene	gene with protein product		600323	"""regulator of G-protein signalling 1"""	IER1		8241276, 8602223	Standard	NM_002922		Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	ENST00000367459.3:c.302G>C	1.37:g.192547373G>C	ENSP00000356429:p.Ser101Thr		190813996	B2RDM9|B4DZY0|Q07918|Q9H1W2	Missense_Mutation	SNP	superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315	p.S101T	ENST00000367459.3	37	c.302	CCDS1375.2	1	.	.	.	.	.	.	.	.	.	.	G	9.314	1.056320	0.19907	.	.	ENSG00000090104	ENST00000367459	T	0.01902	4.57	5.91	-2.09	0.07232	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.965131	0.08656	N	0.913162	T	0.01353	0.0044	N	0.04203	-0.255	0.09310	N	0.999999	B;B	0.27853	0.191;0.001	B;B	0.26416	0.069;0.01	T	0.49790	-0.8902	10	0.27082	T	0.32	.	11.4438	0.50112	0.543:0.0:0.457:0.0	.	101;101	Q08116-2;Q08116	.;RGS1_HUMAN	T	101	ENSP00000356429:S101T	ENSP00000356429:S101T	S	+	2	0	RGS1	190813996	0.003000	0.15002	0.824000	0.32777	0.703000	0.40648	0.022000	0.13511	-0.368000	0.08040	-0.312000	0.09012	AGT	-	superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315		0.363	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS1	protein_coding	OTTHUMT00000086391.1	G	NM_002922		190813996	+1	no_errors	NM_002922	genbank	human	reviewed	54_36p	missense	SNP	0.068	C
SYT14	255928	genome.wustl.edu	37	1	210329144	210329144	+	Missense_Mutation	SNP	T	T	G			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr1:210329144T>G	ENST00000472886.1	+	7	1257	c.1243T>G	c.(1243-1245)Tca>Gca	p.S415A	SYT14_ENST00000367015.1_Missense_Mutation_p.S377A|SYT14_ENST00000422431.1_Missense_Mutation_p.S460A|SYT14_ENST00000367019.1_Missense_Mutation_p.S415A|SYT14_ENST00000399639.2_Missense_Mutation_p.S415A|SYT14_ENST00000534859.1_Missense_Mutation_p.S415A|SYT14_ENST00000537238.1_Missense_Mutation_p.S377A|SYT14_ENST00000271745.7_3'UTR			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	415					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TGAACATGGCTCAGTTCCAGA	0.403																																																0			1											110.0	107.0	108.0					1																	210329144		2203	4300	6503	208395767	SO:0001583	missense	255928			AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.1243T>G	1.37:g.210329144T>G	ENSP00000418901:p.Ser415Ala		208395767	B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2	p.S415A	ENST00000472886.1	37	c.1243	CCDS31014.1	1	.	.	.	.	.	.	.	.	.	.	T	15.12	2.737894	0.49045	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.21031	3.3;3.15;2.03;3.4;3.17;3.39;3.4	4.77	3.6	0.41247	.	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	M	0.67953	2.075	0.58432	D	0.999993	B;B;B;P	0.35139	0.354;0.053;0.184;0.486	B;B;B;B	0.41412	0.194;0.042;0.077;0.356	T	0.03008	-1.1083	10	0.51188	T	0.08	-5.5682	11.3409	0.49533	0.0:0.0:0.1525:0.8474	.	443;415;415;460	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	A	460;415;415;377;415;415;377	ENSP00000389039:S460A;ENSP00000442891:S415A;ENSP00000445837:S415A;ENSP00000437423:S377A;ENSP00000355986:S415A;ENSP00000418901:S415A;ENSP00000355982:S377A	ENSP00000355982:S377A	S	+	1	0	SYT14	208395767	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.762000	0.62250	0.638000	0.30545	0.383000	0.25322	TCA	-	NULL		0.403	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT14	protein_coding	OTTHUMT00000089124.1	T	NM_153262		208395767	+1	no_errors	NM_153262	genbank	human	validated	54_36p	missense	SNP	1.000	G
FN1	2335	genome.wustl.edu	37	2	216292974	216292974	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr2:216292974C>T	ENST00000359671.1	-	6	1038	c.773G>A	c.(772-774)tGc>tAc	p.C258Y	FN1_ENST00000345488.5_Missense_Mutation_p.C258Y|FN1_ENST00000357867.4_Missense_Mutation_p.C258Y|FN1_ENST00000446046.1_Missense_Mutation_p.C258Y|FN1_ENST00000443816.1_Missense_Mutation_p.C258Y|FN1_ENST00000354785.4_Missense_Mutation_p.C258Y|FN1_ENST00000323926.6_Missense_Mutation_p.C258Y|FN1_ENST00000336916.4_Missense_Mutation_p.C258Y|FN1_ENST00000432072.2_Missense_Mutation_p.C258Y|FN1_ENST00000346544.3_Missense_Mutation_p.C258Y|FN1_ENST00000426059.1_Missense_Mutation_p.C258Y|FN1_ENST00000357009.2_Missense_Mutation_p.C258Y|FN1_ENST00000356005.4_Missense_Mutation_p.C258Y|FN1_ENST00000421182.1_Missense_Mutation_p.C258Y			P02751	FINC_HUMAN	fibronectin 1	258	Fibrin- and heparin-binding 1.|Fibronectin type-I 5. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TGTGCAGATGCACTGGAGCAG	0.547																																																0			2											143.0	117.0	126.0					2																	216292974		2203	4300	6503	216001219	SO:0001583	missense	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.773G>A	2.37:g.216292974C>T	ENSP00000352696:p.Cys258Tyr		216001219	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	superfamily_Fibronectin type I module,HMMPfam_fn1,PatternScan_FN1_1,HMMSmart_SM00058,PatternScan_EGF_1,superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_ALDEHYDE_DEHYDR_GLU	p.C258Y	ENST00000359671.1	37	c.773		2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727905	0.89390	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.97586	0.9209	M	0.82716	2.605	0.80722	D	1	D;D;D;P;D;D;D;D;D;D;D	0.89917	1.0;0.997;0.999;0.815;1.0;1.0;1.0;0.998;1.0;1.0;0.994	D;D;D;P;D;D;D;D;D;D;D	0.97110	1.0;0.997;0.97;0.674;0.999;0.999;1.0;0.968;0.999;0.999;0.997	D	0.97520	1.0072	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	258;258;258;258;258;258;258;258;258;258;258	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	Y	258	ENSP00000394423:C258Y;ENSP00000323534:C258Y;ENSP00000338200:C258Y;ENSP00000350534:C258Y;ENSP00000346839:C258Y;ENSP00000352696:C258Y;ENSP00000265312:C258Y;ENSP00000273049:C258Y;ENSP00000349509:C258Y;ENSP00000410422:C258Y;ENSP00000415018:C258Y;ENSP00000399538:C258Y;ENSP00000348285:C258Y;ENSP00000398907:C258Y	ENSP00000265313:C258Y	C	-	2	0	FN1	216001219	1.000000	0.71417	0.998000	0.56505	0.640000	0.38277	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	TGC	-	superfamily_Fibronectin type I module,HMMPfam_fn1,PatternScan_FN1_1,HMMSmart_SM00058		0.547	FN1-204	KNOWN	basic	protein_coding	FN1	protein_coding		C	NM_212476		216001219	-1	no_errors	NM_212482	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
TGFB2	7042	genome.wustl.edu	37	1	218614630	218614630	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr1:218614630C>G	ENST00000366930.4	+	7	1638	c.1171C>G	c.(1171-1173)Ctc>Gtc	p.L391V	TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366929.4_Missense_Mutation_p.L419V	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	391					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		TCTAACCATTCTCTACTACAT	0.398																																																0			1											123.0	123.0	123.0					1																	218614630		2203	4300	6503	216681253	SO:0001583	missense	7042			M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.1171C>G	1.37:g.218614630C>G	ENSP00000355897:p.Leu391Val		216681253	B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Missense_Mutation	SNP	HMMPfam_TGFb_propeptide,superfamily_Cystine-knot cytokines,HMMPfam_TGF_beta,HMMSmart_SM00204,PatternScan_TGF_BETA_1	p.L391V	ENST00000366930.4	37	c.1171	CCDS1521.1	1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235775	0.22626	.	.	ENSG00000092969	ENST00000366930;ENST00000366929	D;D	0.86164	-2.08;-2.08	5.91	5.91	0.95273	Transforming growth factor-beta, C-terminal (3);	0.062950	0.64402	D	0.000002	D	0.88055	0.6334	L	0.55990	1.75	0.80722	D	1	P;B	0.43607	0.812;0.071	P;B	0.50049	0.629;0.133	D	0.84894	0.0838	10	0.24483	T	0.36	.	14.4428	0.67330	0.0:0.9303:0.0:0.0697	.	419;391	P61812-2;P61812	.;TGFB2_HUMAN	V	391;419	ENSP00000355897:L391V;ENSP00000355896:L419V	ENSP00000355896:L419V	L	+	1	0	TGFB2	216681253	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.995000	0.57001	2.793000	0.96121	0.655000	0.94253	CTC	-	superfamily_Cystine-knot cytokines,HMMPfam_TGF_beta,HMMSmart_SM00204		0.398	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFB2	protein_coding	OTTHUMT00000095359.2	C	NM_003238		216681253	+1	no_errors	NM_003238	genbank	human	validated	54_36p	missense	SNP	1.000	G
KCNE4	23704	genome.wustl.edu	37	2	223917913	223917913	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2542-01A-01D-1526-09	TCGA-36-2542-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	8a9443a6-52aa-425a-8bb1-20f431e1dc6d	ed30ac44-0fcf-4db0-b9c0-3733f049c4ad	g.chr2:223917913G>T	ENST00000281830.3	+	2	849	c.518G>T	c.(517-519)gGg>gTg	p.G173V	KCNE4_ENST00000604125.1_Missense_Mutation_p.G122V|KCNE4_ENST00000488477.2_Intron			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	173						apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	voltage-gated potassium channel activity (GO:0005249)	p.G122V(1)		large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCCATGGAAGGGGACAGCGTG	0.667																																																1	Substitution - Missense(1)	lung(1)	2											47.0	48.0	48.0					2																	223917913		2203	4300	6503	223626157	SO:0001583	missense	23704			AY065987	CCDS2456.1, CCDS2456.2	2q36.1	2008-02-05			ENSG00000152049	ENSG00000152049		"""Potassium channels"""	6244	protein-coding gene	gene with protein product		607775				10219239, 12670483	Standard	NM_080671		Approved	MiRP3	uc002vnl.5	Q8WWG9	OTTHUMG00000133161	ENST00000281830.3:c.518G>T	2.37:g.223917913G>T	ENSP00000281830:p.Gly173Val		223626157	B7Z275|Q53SM4|Q96CC4	Missense_Mutation	SNP	HMMPfam_ISK_Channel	p.G122V	ENST00000281830.3	37	c.365		2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175170	0.78564	.	.	ENSG00000152049	ENST00000281830	.	.	.	6.16	5.25	0.73442	.	0.167838	0.53938	D	0.000046	T	0.60637	0.2284	N	0.19112	0.55	0.80722	D	1	D	0.64830	0.994	P	0.57720	0.826	T	0.63808	-0.6553	9	0.59425	D	0.04	-12.3328	19.2387	0.93873	0.0:0.1223:0.8777:0.0	.	122	Q8WWG9	KCNE4_HUMAN	V	122	.	ENSP00000281830:G122V	G	+	2	0	KCNE4	223626157	1.000000	0.71417	0.987000	0.45799	0.973000	0.67179	5.926000	0.70070	2.937000	0.99478	0.650000	0.86243	GGG	-	NULL		0.667	KCNE4-001	KNOWN	basic	protein_coding	KCNE4	protein_coding	OTTHUMT00000330997.2	G	NM_080671		223626157	+1	no_errors	NM_080671	genbank	human	validated	54_36p	missense	SNP	0.998	T
