#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
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	T	T	C			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	T	T					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chrUnknown:0T>C								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								13782	SO:0001628	intergenic_variant	4540																															Unknown.37:g.0T>C			13782		Missense_Mutation	SNP	HMMPfam_Oxidored_q1_N,HMMPfam_Oxidored_q1,HMMPfam_NADH5_C	p.I482T		37	c.1445		MT																																																																																			-	HMMPfam_NADH5_C	0	0					MT-ND5			T			13782	+1	no_errors	ENST00000361567	ensembl	human	known	54_36p	missense	SNP	NULL	C
SMARCA2	6595	genome.wustl.edu	37	9	2039892	2039892	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr9:2039892G>A	ENST00000382203.1	+	4	991	c.782G>A	c.(781-783)aGa>aAa	p.R261K	RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R261K|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R261K|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R261K			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	261					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AACTACAACAGACCATCTGGT	0.542																																																0			9											38.0	39.0	39.0					9																	2039892		2203	4300	6503	2029892	SO:0001583	missense	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.782G>A	9.37:g.2039892G>A	ENSP00000371638:p.Arg261Lys		2029892	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	HMMPfam_QLQ,HMMPfam_HSA,HMMSmart_SM00573,HMMPfam_BRK,HMMSmart_SM00592,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1	p.R261K	ENST00000382203.1	37	c.782	CCDS34977.1	9	.	.	.	.	.	.	.	.	.	.	G	11.35	1.612646	0.28712	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000382203;ENST00000382194	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02	5.59	5.59	0.84812	.	0.415936	0.26955	N	0.021648	T	0.65471	0.2694	N	0.01352	-0.895	0.80722	D	1	P;P	0.47910	0.902;0.841	P;P	0.60173	0.87;0.745	T	0.65907	-0.6054	10	0.05721	T	0.95	-5.231	17.0833	0.86604	0.0:0.0:1.0:0.0	.	261;261	P51531-2;P51531	.;SMCA2_HUMAN	K	261	ENSP00000265773:R261K;ENSP00000349788:R261K;ENSP00000392081:R261K;ENSP00000371638:R261K;ENSP00000371629:R261K	ENSP00000265773:R261K	R	+	2	0	SMARCA2	2029892	1.000000	0.71417	0.253000	0.24343	0.970000	0.65996	6.696000	0.74598	2.645000	0.89757	0.650000	0.86243	AGA	-	NULL		0.542	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	protein_coding	OTTHUMT00000051505.1	G	NM_003070		2029892	+1	no_errors	NM_003070	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
INSR	3643	genome.wustl.edu	37	19	7163164	7163164	+	Silent	SNP	G	G	C			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr19:7163164G>C	ENST00000302850.5	-	9	2050	c.1908C>G	c.(1906-1908)tcC>tcG	p.S636S	AC010311.1_ENST00000581768.1_RNA|INSR_ENST00000341500.5_Silent_p.S636S	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	636	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GAATAATCTGGGATGATGAGT	0.517																																																0			19											160.0	165.0	163.0					19																	7163164		2203	4300	6503	7114164	SO:0001819	synonymous_variant	3643			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.1908C>G	19.37:g.7163164G>C			7114164	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	superfamily_L domain-like,HMMPfam_Recep_L_domain,HMMPfam_Furin-like,superfamily_Growth factor receptor domain,HMMSmart_SM00261,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_fn3,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,PatternScan_RECEPTOR_TYR_KIN_II	p.S636	ENST00000302850.5	37	c.1908	CCDS12176.1	19																																																																																			-	superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060		0.517	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	protein_coding	OTTHUMT00000458544.1	G			7114164	-1	no_errors	NM_000208	genbank	human	reviewed	54_36p	silent	SNP	1.000	C
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		2203	4300	6503	7519131	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	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.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7519131	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
STK33	65975	genome.wustl.edu	37	11	8457667	8457667	+	Missense_Mutation	SNP	A	A	T			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr11:8457667A>T	ENST00000447869.1	-	9	1885	c.967T>A	c.(967-969)Ttt>Att	p.F323I	STK33_ENST00000534493.1_Missense_Mutation_p.F282I|STK33_ENST00000315204.1_Missense_Mutation_p.F323I|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000396672.1_Missense_Mutation_p.F323I|STK33_ENST00000358872.3_Missense_Mutation_p.F136I|STK33_ENST00000396673.1_Missense_Mutation_p.F323I			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	323	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CTTGCCAAAAAGGGTGGTTCT	0.323																																																0			11											46.0	42.0	44.0					11																	8457667		2201	4296	6497	8414243	SO:0001583	missense	65975			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.967T>A	11.37:g.8457667A>T	ENSP00000416750:p.Phe323Ile		8414243	Q658S6|Q8NEF5	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.F323I	ENST00000447869.1	37	c.967	CCDS7789.1	11	.	.	.	.	.	.	.	.	.	.	A	26.7	4.761129	0.89932	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000396673;ENST00000444064;ENST00000534493	T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64216	0.2578	M	0.89601	3.045	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72117	-0.4387	10	0.87932	D	0	.	16.2377	0.82389	1.0:0.0:0.0:0.0	.	282;323	B4DDH2;Q9BYT3	.;STK33_HUMAN	I	323;323;323;136;323;78;282	ENSP00000416750:F323I;ENSP00000320754:F323I;ENSP00000379905:F323I;ENSP00000351743:F136I;ENSP00000379906:F323I;ENSP00000415688:F78I;ENSP00000436418:F282I	ENSP00000320754:F323I	F	-	1	0	STK33	8414243	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.232000	0.78116	2.371000	0.80710	0.533000	0.62120	TTT	-	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase		0.323	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STK33	protein_coding	OTTHUMT00000276819.2	A	NM_030906		8414243	-1	no_errors	NM_030906	genbank	human	validated	54_36p	missense	SNP	1.000	T
SLC2A9	56606	genome.wustl.edu	37	4	9982324	9982324	+	Missense_Mutation	SNP	C	C	G	rs376990050		TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr4:9982324C>G	ENST00000264784.3	-	5	626	c.573G>C	c.(571-573)gaG>gaC	p.E191D	SLC2A9_ENST00000309065.3_Missense_Mutation_p.E162D|SLC2A9_ENST00000506583.1_Missense_Mutation_p.E162D	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	191			E -> D. {ECO:0000269|PubMed:18327256}.		glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	TGGGTGAGATCTCACTAAGGT	0.582																																																0			4						C	ASP/GLU,ASP/GLU	0,4406		0,0,2203	70.0	64.0	66.0		486,573	3.7	1.0	4		66	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC2A9	NM_001001290.1,NM_020041.2	45,45	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	162/512,191/541	9982324	1,13005	2203	4300	6503	9591422	SO:0001583	missense	56606			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.573G>C	4.37:g.9982324C>G	ENSP00000264784:p.Glu191Asp		9591422	Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,PatternScan_SUGAR_TRANSPORT_1	p.E191D	ENST00000264784.3	37	c.573	CCDS3407.1	4	.	.	.	.	.	.	.	.	.	.	C	18.19	3.570036	0.65765	0.0	1.16E-4	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065;ENST00000513129	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	4.67	3.67	0.42095	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.131906	0.49916	D	0.000122	D	0.91831	0.7415	M	0.87758	2.905	0.31397	N	0.677148	D;D	0.69078	0.993;0.997	P;D	0.68192	0.894;0.956	D	0.89667	0.3881	9	.	.	.	.	4.1264	0.10129	0.0:0.6968:0.0:0.3032	.	162;191	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	D	162;191;162;162	ENSP00000422209:E162D;ENSP00000264784:E191D;ENSP00000311383:E162D;ENSP00000426800:E162D	.	E	-	3	2	SLC2A9	9591422	1.000000	0.71417	0.999000	0.59377	0.745000	0.42441	1.036000	0.30228	2.123000	0.65237	0.650000	0.86243	GAG	-	superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2		0.582	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC2A9	protein_coding	OTTHUMT00000207055.1	C			9591422	-1	no_errors	NM_020041	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
ZNF355P	100505852	genome.wustl.edu	37	21	14469746	14469746	+	IGR	SNP	G	G	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr21:14469746G>A								RNU6-614P (49736 upstream) : AL050302.1 (272184 downstream)																							TTGCTTAAAGGCTTTGCCACA	0.363																																																0			21																																								13391617	SO:0001628	intergenic_variant	0																															21.37:g.14469746G>A			13391617		Missense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.A76V		37	c.227		21																																																																																			-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	0	0.363					ZNF834			G			13391617	-1	no_start_codon	ENST00000305570	ensembl	human	known	54_36p	missense	SNP	0.030	A
GFOD1	54438	genome.wustl.edu	37	6	13470447	13470447	+	Intron	SNP	G	G	C			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr6:13470447G>C	ENST00000379287.3	-	1	918				GFOD1_ENST00000379278.3_5'UTR|GFOD1_ENST00000603223.1_3'UTR|AL583828.1_ENST00000558378.1_Silent_p.T22T	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			ATCTTGACTGGGTCTGGGGAC	0.567																																																0			6											55.0	45.0	48.0					6																	13470447		2203	4300	6503	13578426	SO:0001627	intron_variant	85411			AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 114"""	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.253+16422C>G	6.37:g.13470447G>C			13578426	A8E4L6|Q5T058|Q96JD4|Q9H5K2	Silent	SNP	NULL	p.T22	ENST00000379287.3	37	c.66	CCDS4524.1	6																																																																																			-	NULL		0.567	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf114	protein_coding	OTTHUMT00000039902.1	G	NM_018988		13578426	-1	no_errors	NM_033069	genbank	human	predicted	54_36p	silent	SNP	0.040	C
ESF1	51575	genome.wustl.edu	37	20	13763219	13763219	+	Missense_Mutation	SNP	A	A	T			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr20:13763219A>T	ENST00000202816.1	-	2	675	c.568T>A	c.(568-570)Tca>Aca	p.S190T	NDUFAF5_ENST00000463598.1_5'Flank|NDUFAF5_ENST00000378106.5_5'Flank	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GAGGTGCCTGAGTCTAATGTC	0.348																																																0			20											64.0	64.0	64.0					20																	13763219		2203	4300	6503	13711219	SO:0001583	missense	51575				CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.568T>A	20.37:g.13763219A>T	ENSP00000202816:p.Ser190Thr		13711219	Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	NULL	p.S190T	ENST00000202816.1	37	c.568	CCDS13117.1	20	.	.	.	.	.	.	.	.	.	.	A	0.353	-0.943839	0.02322	.	.	ENSG00000089048	ENST00000202816	T	0.22539	1.95	5.21	0.39	0.16275	.	0.725861	0.12263	N	0.484506	T	0.09686	0.0238	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35919	-0.9769	10	0.13853	T	0.58	.	1.6589	0.02787	0.4146:0.1386:0.3123:0.1345	.	190	Q9H501	ESF1_HUMAN	T	190	ENSP00000202816:S190T	ENSP00000202816:S190T	S	-	1	0	ESF1	13711219	0.000000	0.05858	0.002000	0.10522	0.154000	0.21943	-0.657000	0.05335	0.275000	0.22094	0.443000	0.29094	TCA	-	NULL		0.348	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESF1	protein_coding	OTTHUMT00000078049.1	A	NM_016649		13711219	-1	no_errors	NM_016649	genbank	human	provisional	54_36p	missense	SNP	0.000	T
CUBN	8029	genome.wustl.edu	37	10	16877187	16877187	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr10:16877187G>T	ENST00000377833.4	-	64	10253	c.10188C>A	c.(10186-10188)aaC>aaA	p.N3396K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3396	CUB 26. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GATAGTCTCTGTTGCAATCTT	0.413																																																0			10											114.0	104.0	108.0					10																	16877187		2203	4300	6503	16917193	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10188C>A	10.37:g.16877187G>T	ENSP00000367064:p.Asn3396Lys		16917193	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,PatternScan_EGF_1,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_EGF_2,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042	p.N3396K	ENST00000377833.4	37	c.10188	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151721	0.38021	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.17054	2.3	4.84	3.01	0.34805	CUB (5);	0.288485	0.24740	N	0.035988	T	0.24699	0.0599	L	0.45422	1.42	0.80722	D	1	D	0.59767	0.986	P	0.60609	0.877	T	0.01858	-1.1259	10	0.23891	T	0.37	.	8.7416	0.34560	0.2308:0.0:0.7692:0.0	.	3396	O60494	CUBN_HUMAN	K	3396;237	ENSP00000367064:N3396K	ENSP00000367064:N3396K	N	-	3	2	CUBN	16917193	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	3.486000	0.53215	0.657000	0.30906	-0.224000	0.12420	AAC	-	superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042		0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	protein_coding	OTTHUMT00000047009.1	G	NM_001081		16917193	-1	no_errors	NM_001081	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
GGT3P	2679	genome.wustl.edu	37	22	18769686	18769686	+	RNA	SNP	T	T	G			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr22:18769686T>G	ENST00000412448.1	-	0	992							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										ACGGTCCGCTTGTTTTCCAGG	0.682																																																0			22																																								17149686			2679					22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769686T>G			17149686		Missense_Mutation	SNP	HMMPfam_G_glu_transpept,PatternScan_G_GLU_TRANSPEPTIDASE	p.K181Q	ENST00000412448.1	37	c.541		22																																																																																			-	HMMPfam_G_glu_transpept		0.682	GGT3P-002	KNOWN	basic	processed_transcript	GGT3P	pseudogene	OTTHUMT00000341281.1	T	NR_003267		17149686	-1	no_errors	ENST00000255845	ensembl	human	known	54_36p	missense	SNP	0.000	G
RAD51AP2	729475	genome.wustl.edu	37	2	17692186	17692186	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr2:17692186G>A	ENST00000399080.2	-	3	3388	c.3365C>T	c.(3364-3366)cCg>cTg	p.P1122L		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1122	Interaction with RAD51.									endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGTCTTAAGCGGTCGTACTCT	0.328																																																0			2											114.0	101.0	105.0					2																	17692186		1834	4085	5919	17555667	SO:0001583	missense	729475			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.3365C>T	2.37:g.17692186G>A	ENSP00000382030:p.Pro1122Leu		17555667		Missense_Mutation	SNP	NULL	p.P1122L	ENST00000399080.2	37	c.3365	CCDS42656.1	2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412401	0.83340	.	.	ENSG00000214842	ENST00000399080	T	0.56275	0.47	5.62	5.62	0.85841	.	.	.	.	.	T	0.64136	0.2571	L	0.32530	0.975	0.50813	D	0.999899	D	0.89917	1.0	D	0.97110	1.0	T	0.66508	-0.5906	9	0.87932	D	0	-4.7462	16.8134	0.85727	0.0:0.0:1.0:0.0	.	1122	Q09MP3	R51A2_HUMAN	L	1122	ENSP00000382030:P1122L	ENSP00000382030:P1122L	P	-	2	0	RAD51AP2	17555667	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.441000	0.73439	2.637000	0.89404	0.491000	0.48974	CCG	-	NULL		0.328	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD51AP2	protein_coding	OTTHUMT00000323801.3	G	NM_001099218		17555667	-1	no_errors	NM_001099218	genbank	human	provisional	54_36p	missense	SNP	1.000	A
Unknown	0	genome.wustl.edu	37	15	20456743	20456743	+	IGR	SNP	G	G	A	rs566357797	byFrequency	TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr15:20456743G>A								RP11-173D3.1 (103537 upstream) : CHEK2P2 (31253 downstream)																							TTTCACCAGCGCCTGGCTCAT	0.622													N|||	98	0.0195687	0.0061	0.0173	5008	,	,		50178	0.005		0.0547	False		,,,				2504	0.0184															0			15																																								18716757	SO:0001628	intergenic_variant	646090																															15.37:g.20456743G>A			18716757		RNA	SNP	-	NULL		37	NULL		15																																																																																			-	-	0	0.622					LOC646090			G			18716757	-1	pseudogene	XR_017120	genbank	human	model	54_36p	rna	SNP	0.801	A
ARL5B	221079	genome.wustl.edu	37	10	18957497	18957497	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr10:18957497G>A	ENST00000377275.3	+	3	379	c.146G>A	c.(145-147)gGa>gAa	p.G49E		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	49					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			lung(1)|ovary(1)	2						CCAACCATAGGAAGCAATGTT	0.373																																																0			10											127.0	121.0	123.0					10																	18957497		2203	4300	6503	18997503	SO:0001583	missense	221079			AF494061	CCDS7131.1	10p13	2014-05-09	2005-11-03	2005-11-03	ENSG00000165997	ENSG00000165997		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	23052	protein-coding gene	gene with protein product		608909	"""ADP-ribosylation factor-like 8"""	ARL8		12853149	Standard	XM_005252400		Approved		uc001iqd.1	Q96KC2	OTTHUMG00000017765	ENST00000377275.3:c.146G>A	10.37:g.18957497G>A	ENSP00000366487:p.Gly49Glu		18997503		Missense_Mutation	SNP	HMMSmart_SM00178,HMMPfam_Arf,HMMSmart_SM00177,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_ARF	p.G49E	ENST00000377275.3	37	c.146	CCDS7131.1	10	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523589	0.64747	.	.	ENSG00000165997	ENST00000377275	D	0.85773	-2.03	5.83	4.93	0.64822	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93556	0.7943	M	0.93420	3.415	0.80722	D	1	D	0.54964	0.969	P	0.62298	0.9	D	0.95019	0.8159	10	0.87932	D	0	-16.4588	14.8941	0.70630	0.0685:0.0:0.9315:0.0	.	49	Q96KC2	ARL5B_HUMAN	E	49	ENSP00000366487:G49E	ENSP00000366487:G49E	G	+	2	0	ARL5B	18997503	1.000000	0.71417	1.000000	0.80357	0.212000	0.24457	9.864000	0.99589	1.477000	0.48234	-0.136000	0.14681	GGA	-	HMMSmart_SM00178,HMMPfam_Arf,HMMSmart_SM00177,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.373	ARL5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL5B	protein_coding	OTTHUMT00000047078.1	G	NM_178815		18997503	+1	no_errors	NM_178815	genbank	human	validated	54_36p	missense	SNP	1.000	A
ABCB5	340273	genome.wustl.edu	37	7	20768044	20768044	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr7:20768044C>G	ENST00000404938.2	+	23	3485	c.2833C>G	c.(2833-2835)Caa>Gaa	p.Q945E	ABCB5_ENST00000258738.6_Missense_Mutation_p.Q500E	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	945	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTATTTAATTCAAGCTGGACG	0.453																																																0			7											101.0	99.0	100.0					7																	20768044		2203	4300	6503	20734569	SO:0001583	missense	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2833C>G	7.37:g.20768044C>G	ENSP00000384881:p.Gln945Glu		20734569	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_ABC_tran,HMMSmart_SM00382,PatternScan_ABC_TRANSPORTER_1,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane	p.Q500E	ENST00000404938.2	37	c.1498	CCDS55090.1	7	.	.	.	.	.	.	.	.	.	.	C	6.277	0.419164	0.11870	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.88896	-2.44;-2.44	3.91	3.91	0.45181	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.246891	0.27331	N	0.019858	T	0.71945	0.3400	N	0.04132	-0.27	0.27573	N	0.949833	B;B;B	0.14012	0.004;0.009;0.002	B;B;B	0.17098	0.017;0.005;0.017	T	0.57165	-0.7858	10	0.09590	T	0.72	.	9.1694	0.37072	0.2168:0.7832:0.0:0.0	.	945;123;500	A7BKA4;A0ASV4;Q2M3G0	.;.;ABCB5_HUMAN	E	945;500	ENSP00000384881:Q945E;ENSP00000258738:Q500E	ENSP00000258738:Q500E	Q	+	1	0	ABCB5	20734569	0.488000	0.25996	1.000000	0.80357	0.991000	0.79684	1.373000	0.34272	2.472000	0.83506	0.655000	0.94253	CAA	-	superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane		0.453	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	protein_coding	OTTHUMT00000326736.2	C	NM_178559		20734569	+1	no_errors	NM_178559	genbank	human	validated	54_36p	missense	SNP	0.989	G
NPAP1	23742	genome.wustl.edu	37	15	24921934	24921934	+	Missense_Mutation	SNP	C	C	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr15:24921934C>A	ENST00000329468.2	+	1	1394	c.920C>A	c.(919-921)cCt>cAt	p.P307H		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	307	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GATGAGAAGCCTTTCTGTATT	0.582																																																0			15											52.0	51.0	51.0					15																	24921934		2203	4300	6503	22473027	SO:0001583	missense	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.920C>A	15.37:g.24921934C>A	ENSP00000333735:p.Pro307His		22473027		Missense_Mutation	SNP	NULL	p.P307H	ENST00000329468.2	37	c.920	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	7.686	0.690114	0.15039	.	.	ENSG00000185823	ENST00000329468	T	0.11821	2.74	1.97	-1.7	0.08159	.	2.733260	0.01617	N	0.022826	T	0.24198	0.0586	L	0.42245	1.32	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.19516	-1.0303	10	0.39692	T	0.17	.	0.697	0.00900	0.2409:0.3513:0.2371:0.1707	.	307	Q9NZP6	CO002_HUMAN	H	307	ENSP00000333735:P307H	ENSP00000333735:P307H	P	+	2	0	C15orf2	22473027	0.001000	0.12720	0.000000	0.03702	0.102000	0.19082	0.149000	0.16243	-0.433000	0.07286	0.205000	0.17691	CCT	-	NULL		0.582	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf2	protein_coding	OTTHUMT00000251253.1	C	NM_018958		22473027	+1	no_errors	NM_018958	genbank	human	validated	54_36p	missense	SNP	0.000	A
GABRB3	2562	genome.wustl.edu	37	15	26793249	26793249	+	Silent	SNP	C	C	T	rs139370891	byFrequency	TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr15:26793249C>T	ENST00000311550.5	-	9	1224	c.1113G>A	c.(1111-1113)tcG>tcA	p.S371S	GABRB3_ENST00000400188.3_Silent_p.S300S|GABRB3_ENST00000299267.4_Silent_p.S371S|GABRB3_ENST00000541819.2_Silent_p.S427S|GABRB3_ENST00000545868.1_Silent_p.S286S	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	371					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.S371S(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GAACTTCCAGCGATGTCAACA	0.453																																																1	Substitution - coding silent(1)	lung(1)	15						C	,,,	0,4406		0,0,2203	126.0	120.0	122.0		1113,858,900,1113	-7.0	0.1	15	dbSNP_134	122	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GABRB3	NM_000814.5,NM_001191320.1,NM_001191321.1,NM_021912.4	,,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,,	371/474,286/389,300/403,371/474	26793249	3,13003	2203	4300	6503	24344342	SO:0001819	synonymous_variant	2562				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1113G>A	15.37:g.26793249C>T			24344342	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb	p.S371	ENST00000311550.5	37	c.1113	CCDS10019.1	15																																																																																			-	superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb		0.453	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB3	protein_coding	OTTHUMT00000251352.2	C			24344342	-1	no_errors	NM_000814	genbank	human	reviewed	54_36p	silent	SNP	0.866	T
HERC2	8924	genome.wustl.edu	37	15	28414686	28414686	+	Silent	SNP	C	C	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr15:28414686C>A	ENST00000261609.7	-	66	10281	c.10173G>T	c.(10171-10173)ctG>ctT	p.L3391L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCTGTTTGGCCAGATTTCCAT	0.403																																																0			15											83.0	79.0	80.0					15																	28414686		2203	4300	6503	26088281	SO:0001819	synonymous_variant	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10173G>T	15.37:g.28414686C>A			26088281		Silent	SNP	superfamily_RCC1/BLIP-II,HMMPfam_RCC1,HMMSmart_SM00706,superfamily_Cytochrome b5-like heme/steroid binding domain,HMMPfam_Cyt-b5,HMMPfam_MIB_HERC2,HMMPfam_ZZ,HMMSmart_SM00291,PatternScan_ZF_ZZ_1,superfamily_Galactose-binding domain-like,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RCC1_2,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT	p.L3391	ENST00000261609.7	37	c.10173	CCDS10021.1	15																																																																																			-	NULL		0.403	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	protein_coding	OTTHUMT00000251358.2	C	NM_004667		26088281	-1	no_errors	NM_004667	genbank	human	validated	54_36p	silent	SNP	0.995	A
ULK4P3	89837	genome.wustl.edu	37	15	30419898	30419898	+	RNA	SNP	G	G	T			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr15:30419898G>T	ENST00000568486.1	+	0	460					NR_026859.1				ULK4 pseudogene 3																		ATGGGCCAAGGTTGCTCGGGT	0.433																																																0			15																																								28207190			89838			BC023564		15q13.2	2014-03-20	2013-09-12	2011-11-25	ENSG00000178081	ENSG00000178081			15777	pseudogene	pseudogene			"""family with sequence similarity 7, member A3"", ""unc-51-like kinase 4 (C. elegans) pseudogene 3"""	FAM7A3		11829490	Standard	NR_026859		Approved	D-X	uc001zdk.3		OTTHUMG00000175637		15.37:g.30419898G>T			28207190		Missense_Mutation	SNP	NULL	p.V31F	ENST00000568486.1	37	c.91		15	.	.	.	.	.	.	.	.	.	.	G	7.470	0.646467	0.14451	.	.	ENSG00000178081	ENST00000341955	.	.	.	1.2	0.2	0.15181	.	.	.	.	.	T	0.43456	0.1248	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51818	-0.8657	4	0.87932	D	0	.	3.7017	0.08384	0.2684:0.0:0.7316:0.0	.	.	.	.	F	31	.	ENSP00000345449:V31F	V	+	1	0	FAM7A3	28207190	0.996000	0.38824	0.974000	0.42286	0.093000	0.18481	0.554000	0.23407	0.074000	0.16767	0.162000	0.16502	GTT	-	NULL		0.433	ULK4P3-002	PUTATIVE	basic	processed_transcript	FAM7A1	pseudogene	OTTHUMT00000430688.1	G			28207190	+1	no_errors	ENST00000341955	ensembl	human	known	54_36p	missense	SNP	0.994	T
USPL1	10208	genome.wustl.edu	37	13	31205033	31205033	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr13:31205033G>A	ENST00000255304.4	+	4	632	c.290G>A	c.(289-291)tGt>tAt	p.C97Y	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	97					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TTGGAAGAATGTCACACTCCA	0.323																																					Ovarian(60;318 1180 1554 28110 31601)											0			13											61.0	63.0	62.0					13																	31205033		2203	4300	6503	30103033	SO:0001583	missense	10208			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.290G>A	13.37:g.31205033G>A	ENSP00000255304:p.Cys97Tyr		30103033	Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	NULL	p.C97Y	ENST00000255304.4	37	c.290	CCDS9336.1	13	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.197695	0.00299	.	.	ENSG00000132952	ENST00000255304	T	0.06768	3.26	6.07	-1.73	0.08081	.	1.131910	0.06188	N	0.680878	T	0.05502	0.0145	L	0.42245	1.32	0.09310	N	1	B	0.16802	0.019	B	0.12156	0.007	T	0.43766	-0.9371	10	0.08381	T	0.77	0.0227	0.2182	0.00164	0.2634:0.2421:0.1555:0.3389	.	97	Q5W0Q7	USPL1_HUMAN	Y	97	ENSP00000255304:C97Y	ENSP00000255304:C97Y	C	+	2	0	USPL1	30103033	0.884000	0.30299	0.059000	0.19551	0.088000	0.18126	0.243000	0.18106	-0.060000	0.13132	0.655000	0.94253	TGT	-	NULL		0.323	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USPL1	protein_coding	OTTHUMT00000044369.1	G	NM_005800		30103033	+1	no_errors	NM_005800	genbank	human	validated	54_36p	missense	SNP	0.000	A
DEPDC5	9681	genome.wustl.edu	37	22	32218713	32218713	+	Missense_Mutation	SNP	T	T	G			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr22:32218713T>G	ENST00000382112.3	+	23	2111	c.2041T>G	c.(2041-2043)Tcc>Gcc	p.S681A	DEPDC5_ENST00000400246.1_Missense_Mutation_p.S681A|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S681A|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S681A|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S681A|DEPDC5_ENST00000400248.2_Missense_Mutation_p.S681A|DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000382105.2_Intron	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	681					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGACGGCATGTCCTTCTTGAA	0.507																																																0			22											75.0	74.0	74.0					22																	32218713		1982	4172	6154	30548713	SO:0001583	missense	9681			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2041T>G	22.37:g.32218713T>G	ENSP00000371546:p.Ser681Ala		30548713	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	"superfamily_""Winged helix"" DNA-binding domain,HMMPfam_DEP,HMMSmart_SM00049"	p.S681A	ENST00000382112.3	37	c.2041	CCDS46692.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.12|14.12	2.441722|2.441722	0.43326|0.43326	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000266091;ENST00000400249;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248|ENST00000433147	T;T;T;T;T;T|.	0.24538|.	1.93;1.85;1.92;1.85;1.92;1.85|.	5.09|5.09	4.06|4.06	0.47325|0.47325	.|.	0.095481|.	0.64402|.	D|.	0.000008|.	T|T	0.54431|0.54431	0.1858|0.1858	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.27013|.	0.166;0.16;0.023;0.13;0.13|.	B;B;B;B;B|.	0.30572|.	0.117;0.046;0.01;0.023;0.033|.	T|T	0.48007|0.48007	-0.9072|-0.9072	10|5	0.22706|.	T|.	0.39|.	.|.	8.8341|8.8341	0.35102|0.35102	0.0:0.0869:0.0:0.9131|0.0:0.0869:0.0:0.9131	.|.	2;681;681;681;681|.	B4DSS1;B9EGN9;O75140-4;A8MPX9;O75140|.	.;.;.;.;DEPD5_HUMAN|.	A|G	681|78	ENSP00000266091:S681A;ENSP00000383108:S681A;ENSP00000383105:S681A;ENSP00000371546:S681A;ENSP00000371545:S681A;ENSP00000383107:S681A|.	ENSP00000266091:S681A|.	S|V	+|+	1|2	0|0	DEPDC5|DEPDC5	30548713|30548713	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	2.335000|2.335000	0.43929|0.43929	0.883000|0.883000	0.36040|0.36040	-0.376000|-0.376000	0.06991|0.06991	TCC|GTC	-	NULL		0.507	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	protein_coding	OTTHUMT00000129087.1	T	NM_014662		30548713	+1	no_errors	NM_014662	genbank	human	validated	54_36p	missense	SNP	1.000	G
KRTAP13-4	284827	genome.wustl.edu	37	21	31803040	31803040	+	Silent	SNP	A	A	G			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr21:31803040A>G	ENST00000334068.2	+	1	469	c.447A>G	c.(445-447)ccA>ccG	p.P149P		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	149						intermediate filament (GO:0005882)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						GTTACAGACCAATCTGTGGAT	0.428																																					NSCLC(196;2401 3038 18004 35753)											0			21											98.0	98.0	98.0					21																	31803040		2203	4300	6503	30724911	SO:0001819	synonymous_variant	284827			AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"""Keratin associated proteins"""	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.447A>G	21.37:g.31803040A>G			30724911	A2RRL3	Silent	SNP	HMMPfam_PMG	p.P149	ENST00000334068.2	37	c.447	CCDS13592.1	21																																																																																			-	HMMPfam_PMG		0.428	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP13-4	protein_coding	OTTHUMT00000128222.1	A			30724911	+1	no_errors	NM_181600	genbank	human	provisional	54_36p	silent	SNP	0.269	G
KCTD9P6	642513	genome.wustl.edu	37	8	31078043	31078043	+	IGR	SNP	C	C	T			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr8:31078043C>T								RP11-363L24.3 (43360 upstream) : RP11-566H8.3 (55068 downstream)																							ACCCTGGCATCGCAGTTCTGA	0.438																																																0			8																																								31197585	SO:0001628	intergenic_variant	642513																															8.37:g.31078043C>T			31197585		RNA	SNP	-	NULL		37	NULL		8																																																																																			-	-	0	0.438					LOC642513			C			31197585	-1	pseudogene	XR_016174	genbank	human	model	54_36p	rna	SNP	1.000	T
H3F3C	440093	genome.wustl.edu	37	12	31944867	31944867	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr12:31944867G>T	ENST00000340398.3	-	1	308	c.234C>A	c.(232-234)ttC>ttA	p.F78L		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	78					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						GGTCAGTGTTGAAATCCTGCG	0.582										HNSCC(67;0.2)																																						0			12											120.0	111.0	114.0					12																	31944867		2203	4300	6503	31836134	SO:0001583	missense	440093			BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"""Histones / Replication-independent"""	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.234C>A	12.37:g.31944867G>T	ENSP00000339835:p.Phe78Leu		31836134	E9P281	Missense_Mutation	SNP	superfamily_Histone-fold,PatternScan_HISTONE_H3_1,HMMSmart_H3,HMMPfam_Histone,PatternScan_HISTONE_H3_2	p.F78L	ENST00000340398.3	37	c.234	CCDS31769.1	12	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086411	0.36855	.	.	ENSG00000188375	ENST00000340398	T	0.41758	0.99	1.3	1.3	0.21679	Histone-fold (2);Histone core (1);	0.000000	0.53938	U	0.000056	T	0.46308	0.1386	M	0.67953	2.075	0.38910	D	0.957508	P	0.36483	0.555	P	0.45639	0.488	T	0.54563	-0.8275	10	0.87932	D	0	.	8.6214	0.33864	0.0:0.0:1.0:0.0	.	78	Q6NXT2	H3C_HUMAN	L	78	ENSP00000339835:F78L	ENSP00000339835:F78L	F	-	3	2	H3F3C	31836134	1.000000	0.71417	0.087000	0.20705	0.081000	0.17604	4.942000	0.63547	1.049000	0.40321	0.413000	0.27773	TTC	-	superfamily_Histone-fold,HMMSmart_H3,HMMPfam_Histone		0.582	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC440093	protein_coding	OTTHUMT00000349653.1	G	NM_001013699		31836134	-1	no_errors	NM_001013699	genbank	human	validated	54_36p	missense	SNP	1.000	T
NAA16	79612	genome.wustl.edu	37	13	41905483	41905483	+	Silent	SNP	A	A	G			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr13:41905483A>G	ENST00000379406.3	+	8	1209	c.885A>G	c.(883-885)agA>agG	p.R295R	NAA16_ENST00000379367.3_Silent_p.R295R|NAA16_ENST00000403412.3_Silent_p.R295R	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	295					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						CACCCAGAAGATTACCTTTGA	0.303																																																0			13											77.0	84.0	82.0					13																	41905483		2203	4296	6499	40803483	SO:0001819	synonymous_variant	79612			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.885A>G	13.37:g.41905483A>G			40803483	B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Silent	SNP	superfamily_TPR-like,HMMSmart_SM00028,HMMPfam_TPR_2,HMMPfam_TPR_1	p.R295	ENST00000379406.3	37	c.885	CCDS9379.1	13																																																																																			-	superfamily_TPR-like		0.303	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NARG1L	protein_coding	OTTHUMT00000044672.2	A	NM_018527		40803483	+1	no_errors	NM_024561	genbank	human	validated	54_36p	silent	SNP	1.000	G
ARHGAP33	115703	genome.wustl.edu	37	19	36278456	36278456	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr19:36278456G>C	ENST00000007510.4	+	21	3133	c.2989G>C	c.(2989-2991)Gcc>Ccc	p.A997P	AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.A861P|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.A836P			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	997					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCGAGGCCCTGCCCAGGTCAG	0.677																																																0			19											15.0	19.0	17.0					19																	36278456		2189	4264	6453	40970296	SO:0001583	missense	115703			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.2989G>C	19.37:g.36278456G>C	ENSP00000007510:p.Ala997Pro		40970296	O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	superfamily_PX,superfamily_SH3,HMMSmart_SH3,HMMPfam_SH3_2,superfamily_Rho_GAP,HMMSmart_RhoGAP,HMMPfam_RhoGAP	p.A836P	ENST00000007510.4	37	c.2506		19	.	.	.	.	.	.	.	.	.	.	G	7.169	0.587240	0.13812	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.12774	3.07;2.65;3.09	4.77	-4.93	0.03066	.	1.211620	0.06001	N	0.647779	T	0.12518	0.0304	N	0.14661	0.345	0.09310	N	1	B;B;D	0.69078	0.037;0.062;0.997	B;B;P	0.62184	0.043;0.059;0.899	T	0.14811	-1.0459	10	0.21540	T	0.41	.	3.7774	0.08667	0.3608:0.0:0.2508:0.3884	.	997;861;836	O14559;O14559-10;O14559-11	RHG33_HUMAN;.;.	P	997;836;861	ENSP00000007510:A997P;ENSP00000320038:A836P;ENSP00000368227:A861P	ENSP00000007510:A997P	A	+	1	0	ARHGAP33	40970296	0.000000	0.05858	0.185000	0.23176	0.862000	0.49288	-1.356000	0.02609	-0.964000	0.03595	-0.448000	0.05591	GCC	-	NULL		0.677	ARHGAP33-201	KNOWN	basic	protein_coding	SNX26	protein_coding		G	NM_052948		40970296	+1	no_errors	NM_052948	genbank	human	reviewed	54_36p	missense	SNP	0.085	C
CNGA1	1259	genome.wustl.edu	37	4	47939130	47939130	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr4:47939130G>T	ENST00000514170.1	-	11	1700	c.1381C>A	c.(1381-1383)Cta>Ata	p.L461I	CNGA1_ENST00000402813.3_Missense_Mutation_p.L530I|CNGA1_ENST00000420489.2_Missense_Mutation_p.L461I|CNGA1_ENST00000544810.1_Missense_Mutation_p.L461I|CNGA1_ENST00000358519.4_Missense_Mutation_p.L461I			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	461					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TCTGCTCTTAGTTTATCAGGT	0.368																																																0			4											170.0	161.0	163.0					4																	47939130		1883	4119	6002	47633887	SO:0001583	missense	1259			M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1381C>A	4.37:g.47939130G>T	ENSP00000426862:p.Leu461Ile		47633887	A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2	p.L461I	ENST00000514170.1	37	c.1381	CCDS43226.1	4	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762480	0.49574	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.97791	-4.54;-4.54;-4.54;-4.54;-4.54	5.22	4.37	0.52481	Cyclic nucleotide-binding-like (1);	0.000000	0.64402	D	0.000001	D	0.98308	0.9439	M	0.90145	3.09	0.52501	D	0.999954	D;D	0.61697	0.99;0.99	P;P	0.57911	0.829;0.829	D	0.98358	1.0547	10	0.87932	D	0	.	8.4057	0.32614	0.2342:0.0:0.7658:0.0	.	461;461	Q4W5E3;P29973	.;CNGA1_HUMAN	I	530;461;461;461;461	ENSP00000384264:L530I;ENSP00000426862:L461I;ENSP00000443401:L461I;ENSP00000351320:L461I;ENSP00000389881:L461I	ENSP00000351320:L461I	L	-	1	2	CNGA1	47633887	1.000000	0.71417	0.960000	0.40013	0.723000	0.41478	4.614000	0.61183	1.191000	0.43056	0.491000	0.48974	CTA	-	superfamily_cAMP-binding domain-like		0.368	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	CNGA1	protein_coding	OTTHUMT00000372070.2	G	NM_000087		47633887	-1	no_errors	NM_000087	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
KRT83	3889	genome.wustl.edu	37	12	52711550	52711550	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr12:52711550C>G	ENST00000293670.3	-	4	727	c.665G>C	c.(664-666)tGc>tCc	p.C222S		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	222	Coil 1B.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GAGGTAGGCGCAGTCCACATC	0.622																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)											0			12											90.0	91.0	91.0					12																	52711550		2203	4300	6503	50997817	SO:0001583	missense	3889			X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.665G>C	12.37:g.52711550C>G	ENSP00000293670:p.Cys222Ser		50997817	A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	HMMPfam_Filament,PatternScan_IF	p.C222S	ENST00000293670.3	37	c.665	CCDS8823.1	12	.	.	.	.	.	.	.	.	.	.	C	10.29	1.309261	0.23821	.	.	ENSG00000170523	ENST00000293670	D	0.87887	-2.31	4.64	4.64	0.57946	Filament (1);	0.000000	0.46758	U	0.000269	D	0.82701	0.5094	L	0.43152	1.355	0.32391	N	0.553215	B	0.06786	0.001	B	0.13407	0.009	D	0.83484	0.0066	10	0.51188	T	0.08	.	13.7228	0.62737	0.0:0.7227:0.2773:0.0	.	222	P78385	KRT83_HUMAN	S	222	ENSP00000293670:C222S	ENSP00000293670:C222S	C	-	2	0	KRT83	50997817	0.004000	0.15560	1.000000	0.80357	0.852000	0.48524	0.349000	0.20055	2.299000	0.77371	0.655000	0.94253	TGC	-	HMMPfam_Filament		0.622	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT83	protein_coding	OTTHUMT00000405182.1	C	NM_002282		50997817	-1	no_errors	NM_002282	genbank	human	reviewed	54_36p	missense	SNP	0.991	G
UNC13C	440279	genome.wustl.edu	37	15	54305271	54305271	+	Nonsense_Mutation	SNP	C	C	A	rs150304639		TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr15:54305271C>A	ENST00000260323.11	+	1	171	c.171C>A	c.(169-171)taC>taA	p.Y57*	UNC13C_ENST00000545554.1_Nonsense_Mutation_p.Y57*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.Y57*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	57					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AATTTTCTTACACTTTTAAAA	0.408																																																0			15											88.0	91.0	90.0					15																	54305271		1834	4071	5905	52092563	SO:0001587	stop_gained	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.171C>A	15.37:g.54305271C>A	ENSP00000260323:p.Tyr57*		52092563	Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD	p.Y57*	ENST00000260323.11	37	c.171	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	T	12.26	1.883847	0.33255	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	4.48	-4.13	0.03904	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	8.9042	0.35512	0.0:0.4433:0.1098:0.4469	.	.	.	.	X	57	.	ENSP00000260323:Y57X	Y	+	3	2	UNC13C	52092563	0.365000	0.25006	0.448000	0.26945	0.006000	0.05464	0.044000	0.13992	-0.707000	0.05022	-2.115000	0.00351	TAC	-	NULL		0.408	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	protein_coding	OTTHUMT00000419028.3	C	NM_173166		52092563	+1	no_errors	NM_001080534	genbank	human	provisional	54_36p	nonsense	SNP	0.529	A
ZNF280D	54816	genome.wustl.edu	37	15	56961080	56961080	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr15:56961080G>C	ENST00000267807.7	-	14	1702	c.1486C>G	c.(1486-1488)Caa>Gaa	p.Q496E	ZNF280D_ENST00000559000.1_Missense_Mutation_p.Q483E|ZNF280D_ENST00000396245.1_Missense_Mutation_p.Q200E|ZNF280D_ENST00000559237.1_Missense_Mutation_p.Q483E	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	496					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CGATGGTGTTGAGTCTTATGA	0.313																																																0			15											156.0	146.0	150.0					15																	56961080		2192	4292	6484	54748372	SO:0001583	missense	54816			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.1486C>G	15.37:g.56961080G>C	ENSP00000267807:p.Gln496Glu		54748372	A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2	p.Q496E	ENST00000267807.7	37	c.1486	CCDS32245.1	15	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785344	0.49997	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000396245	T;T	0.03212	4.01;4.5	5.4	5.4	0.78164	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.222157	0.22320	U	0.061620	T	0.06600	0.0169	L	0.45698	1.435	0.41103	D	0.98568	B;B	0.29432	0.244;0.209	B;B	0.32393	0.145;0.145	T	0.34976	-0.9807	10	0.44086	T	0.13	-7.8107	18.1698	0.89742	0.0:0.0:1.0:0.0	.	559;496	B4DHL1;Q6N043	.;Z280D_HUMAN	E	496;483;200	ENSP00000267807:Q496E;ENSP00000379545:Q200E	ENSP00000267807:Q496E	Q	-	1	0	ZNF280D	54748372	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.515000	0.81761	2.528000	0.85240	0.650000	0.86243	CAA	-	HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.313	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF280D	protein_coding	OTTHUMT00000418891.2	G	XM_370867		54748372	-1	no_errors	NM_017661	genbank	human	validated	54_36p	missense	SNP	1.000	C
TBPL2	387332	genome.wustl.edu	37	14	55903530	55903530	+	Missense_Mutation	SNP	G	G	T	rs369692725		TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr14:55903530G>T	ENST00000247219.5	-	2	427	c.357C>A	c.(355-357)caC>caA	p.H119Q		NM_199047.2	NP_950248.1			TATA box binding protein like 2											endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						CTTCAGTTTCGTGTTTGCTAA	0.438																																																0			14											194.0	163.0	174.0					14																	55903530		2203	4300	6503	54973283	SO:0001583	missense	387332			AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.357C>A	14.37:g.55903530G>T	ENSP00000247219:p.His119Gln		54973283		Missense_Mutation	SNP	superfamily_TFIID_C/glycos_N,HMMPfam_TBP,PatternScan_TFIID	p.H119Q	ENST00000247219.5	37	c.357	CCDS9724.1	14	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.399723	0.01165	.	.	ENSG00000182521	ENST00000247219	T	0.42513	0.97	4.89	-3.09	0.05331	.	0.723155	0.12905	N	0.429462	T	0.18130	0.0435	L	0.38531	1.155	0.09310	N	1	B	0.27882	0.192	B	0.23150	0.044	T	0.31668	-0.9935	10	0.02654	T	1	4.5987	0.2077	0.00153	0.2477:0.2731:0.1828:0.2965	.	119	Q6SJ96	TBPL2_HUMAN	Q	119	ENSP00000247219:H119Q	ENSP00000247219:H119Q	H	-	3	2	TBPL2	54973283	0.001000	0.12720	0.005000	0.12908	0.011000	0.07611	0.077000	0.14738	-0.242000	0.09667	-0.339000	0.08088	CAC	-	NULL		0.438	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBPL2	protein_coding	OTTHUMT00000276916.1	G	NM_199047		54973283	-1	no_errors	NM_199047	genbank	human	validated	54_36p	missense	SNP	0.000	T
KATNB1	10300	genome.wustl.edu	37	16	57771184	57771184	+	Missense_Mutation	SNP	C	C	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr16:57771184C>A	ENST00000379661.3	+	2	421	c.29C>A	c.(28-30)gCc>gAc	p.A10D		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1											cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				ACCAAGACAGCCTGGAAGTTG	0.527																																																0			16											182.0	135.0	151.0					16																	57771184		2198	4300	6498	56328685	SO:0001583	missense	10300			AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854		"""WD repeat domain containing"""	6217	protein-coding gene	gene with protein product		602703	"""katanin p80 (WD40-containing) subunit B 1"""			9568719	Standard	XM_006721121		Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.29C>A	16.37:g.57771184C>A	ENSP00000368982:p.Ala10Asp		56328685		Missense_Mutation	SNP	superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.A10D	ENST00000379661.3	37	c.29	CCDS10788.1	16	.	.	.	.	.	.	.	.	.	.	c	17.71	3.457848	0.63401	.	.	ENSG00000140854	ENST00000379661	T	0.56103	0.48	4.97	4.97	0.65823	.	0.195446	0.45361	D	0.000361	T	0.43500	0.1250	L	0.42245	1.32	0.42780	D	0.993868	B	0.33694	0.421	B	0.22753	0.041	T	0.51020	-0.8758	10	0.72032	D	0.01	-0.0593	15.0221	0.71637	0.0:1.0:0.0:0.0	.	10	Q9BVA0	KTNB1_HUMAN	D	10	ENSP00000368982:A10D	ENSP00000368982:A10D	A	+	2	0	KATNB1	56328685	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.180000	0.65048	2.308000	0.77769	0.558000	0.71614	GCC	-	superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40		0.527	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KATNB1	protein_coding	OTTHUMT00000257343.3	C			56328685	+1	no_errors	NM_005886	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
AVIL	10677	genome.wustl.edu	37	12	58190306	58190306	+	IGR	SNP	G	G	A	rs149429981		TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr12:58190306G>A	ENST00000257861.3	-	0	2891				TSFM_ENST00000454289.3_Silent_p.S306S|TSFM_ENST00000350762.5_Silent_p.S266S|TSFM_ENST00000548851.1_Intron|TSFM_ENST00000323833.8_Silent_p.S327S|TSFM_ENST00000543727.1_Intron|TSFM_ENST00000540550.1_3'UTR|TSFM_ENST00000550559.1_Intron	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin						actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGGGGGTGTCGGTAGTAGACT	0.507																																																0			12						G	,,,	2,4404	4.2+/-10.8	0,2,2201	61.0	55.0	57.0		,981,,918	-4.9	0.7	12	dbSNP_134	57	0,8600		0,0,4300	no	utr-3,coding-synonymous,intron,coding-synonymous	TSFM	NM_001172695.1,NM_001172696.1,NM_001172697.1,NM_005726.5	,,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,,	,327/347,,306/326	58190306	2,13004	2203	4300	6503	56476573	SO:0001628	intergenic_variant	10102			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461		12.37:g.58190306G>A			56476573	B2RAU7|Q2NKM9	Silent	SNP	superfamily_UBA_like,HMMPfam_UBA,PatternScan_EF_TS_1,superfamily_EF_TS,HMMPfam_EF_TS,PatternScan_EF_TS_2	p.S327	ENST00000257861.3	37	c.981	CCDS8959.1	12																																																																																			-	HMMPfam_EF_TS,superfamily_EF_TS		0.507	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSFM	protein_coding	OTTHUMT00000409276.1	G	NM_006576		56476573	+1	no_errors	NM_005726	genbank	human	validated	54_36p	silent	SNP	0.949	A
DST	667	genome.wustl.edu	37	6	56437682	56437682	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr6:56437682C>G	ENST00000361203.3	-	48	12791	c.12784G>C	c.(12784-12786)Gag>Cag	p.E4262Q	DST_ENST00000244364.6_Missense_Mutation_p.E1850Q|DST_ENST00000446842.2_Missense_Mutation_p.E3938Q|DST_ENST00000370769.4_Missense_Mutation_p.E4264Q|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.E2176Q|DST_ENST00000370788.2_Missense_Mutation_p.E2176Q|DST_ENST00000370754.5_Missense_Mutation_p.E4442Q			Q03001	DYST_HUMAN	dystonin	4262					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTAGCTCCTCCATTTTGGCA	0.408																																																0			6											109.0	97.0	100.0					6																	56437682		1828	4085	5913	56545641	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12784G>C	6.37:g.56437682C>G	ENSP00000354508:p.Glu4262Gln		56545641	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMSmart_SM00150,HMMPfam_Spectrin,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_GAS2,HMMSmart_SM00243	p.E2176Q	ENST00000361203.3	37	c.6526		6	.	.	.	.	.	.	.	.	.	.	C	18.18	3.565766	0.65651	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.65364	1.09;-0.1;-0.1;0.02;0.88;-0.04;-0.15	5.98	5.98	0.97165	.	0.118364	0.36815	N	0.002398	T	0.71022	0.3291	M	0.62723	1.935	0.26550	N	0.973938	D;D;D;P;P	0.67145	0.968;0.992;0.996;0.857;0.946	P;P;D;P;P	0.71656	0.653;0.904;0.974;0.478;0.802	T	0.62081	-0.6929	9	0.19590	T	0.45	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	2176;4264;4442;4262;1850	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	Q	1850;4442;4264;2176;3938;2176;4262	ENSP00000244364:E1850Q;ENSP00000359790:E4442Q;ENSP00000359805:E4264Q;ENSP00000400883:E2176Q;ENSP00000393645:E3938Q;ENSP00000359824:E2176Q;ENSP00000354508:E4262Q	ENSP00000244364:E1850Q	E	-	1	0	DST	56545641	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	7.294000	0.78760	2.835000	0.97688	0.650000	0.86243	GAG	-	superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150		0.408	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56545641	-1	no_errors	NM_183380	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
RP11-458F8.4	0	genome.wustl.edu	37	7	66367365	66367365	+	lincRNA	SNP	G	G	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr7:66367365G>A	ENST00000610177.1	+	0	0																											CTTGCCTCTCGCCATCCTCTC	0.672																																																0			7																																								66004800			644791																															7.37:g.66367365G>A			66004800		RNA	SNP	-	NULL	ENST00000610177.1	37	NULL		7																																																																																			-	-		0.672	RP11-458F8.4-001	KNOWN	basic	lincRNA	LOC644791	lincRNA	OTTHUMT00000472525.1	G			66004800	+1	pseudogene	XR_037288	genbank	human	model	54_36p	rna	SNP	0.121	A
SSH3	54961	genome.wustl.edu	37	11	67074401	67074401	+	Silent	SNP	G	G	A	rs528844729		TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr11:67074401G>A	ENST00000308127.4	+	4	610	c.432G>A	c.(430-432)acG>acA	p.T144T	SSH3_ENST00000308298.7_Silent_p.T144T|SSH3_ENST00000376757.5_Silent_p.T144T|SSH3_ENST00000532181.1_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	144					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AGGATGAGACGGTCCTCCTGG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		19442	0.0		0.0	False		,,,				2504	0.001															0			11											49.0	47.0	48.0					11																	67074401		2200	4295	6495	66830977	SO:0001819	synonymous_variant	54961			AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.432G>A	11.37:g.67074401G>A			66830977	Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Silent	SNP	HMMPfam_DEK_C,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_DSPc,HMMSmart_SM00195,PatternScan_TYR_PHOSPHATASE_1	p.T144	ENST00000308127.4	37	c.432	CCDS8157.1	11																																																																																			-	NULL		0.637	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH3	protein_coding	OTTHUMT00000393167.1	G	NM_018276		66830977	+1	no_errors	NM_017857	genbank	human	provisional	54_36p	silent	SNP	0.722	A
ARG2	384	genome.wustl.edu	37	14	68113451	68113451	+	Nonsense_Mutation	SNP	G	G	T			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr14:68113451G>T	ENST00000261783.3	+	5	793	c.613G>T	c.(613-615)Gaa>Taa	p.E205*	ARG2_ENST00000556491.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	205					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	GGACCCTCCTGAACAGTAAGT	0.433																																																0			14											170.0	158.0	162.0					14																	68113451		2203	4300	6503	67183204	SO:0001587	stop_gained	384			D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"""arginase, type II"""			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.613G>T	14.37:g.68113451G>T	ENSP00000261783:p.Glu205*		67183204	B2R690|Q6FHY8	Nonsense_Mutation	SNP	HMMPfam_Arginase,superfamily_Arginase/deacetylase,PatternScan_ARGINASE_1,PatternScan_ARGINASE_2,PatternScan_ARGINASE_3	p.E205*	ENST00000261783.3	37	c.613	CCDS9785.1	14	.	.	.	.	.	.	.	.	.	.	G	33	5.209626	0.95069	.	.	ENSG00000081181	ENST00000261783	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	.	.	.	X	205	.	ENSP00000261783:E205X	E	+	1	0	ARG2	67183204	1.000000	0.71417	1.000000	0.80357	0.496000	0.33645	9.739000	0.98837	2.873000	0.98535	0.561000	0.74099	GAA	-	HMMPfam_Arginase,superfamily_Arginase/deacetylase		0.433	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARG2	protein_coding	OTTHUMT00000415190.2	G	NM_001172		67183204	+1	no_errors	NM_001172	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
IGHMBP2	3508	genome.wustl.edu	37	11	68673626	68673626	+	Missense_Mutation	SNP	T	T	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr11:68673626T>A	ENST00000255078.3	+	2	287	c.176T>A	c.(175-177)cTg>cAg	p.L59Q	IGHMBP2_ENST00000539224.1_Missense_Mutation_p.L59Q|MRPL21_ENST00000450904.2_5'Flank|MRPL21_ENST00000362034.2_5'Flank|MRPL21_ENST00000567045.1_5'Flank	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	59					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CGCACTGGGCTGTACGGACGG	0.582																																																0			11											99.0	98.0	98.0					11																	68673626		2200	4294	6494	68430202	SO:0001583	missense	3508			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.176T>A	11.37:g.68673626T>A	ENSP00000255078:p.Leu59Gln		68430202	A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMSmart_SM00382,HMMSmart_SM00393,superfamily_R3H domain,HMMPfam_R3H,HMMSmart_SM00154	p.L59Q	ENST00000255078.3	37	c.176	CCDS8187.1	11	.	.	.	.	.	.	.	.	.	.	T	19.76	3.886896	0.72410	.	.	ENSG00000132740	ENST00000255078;ENST00000539224	D;T	0.93076	-3.16;-0.94	3.63	3.63	0.41609	.	0.273894	0.30547	N	0.009396	D	0.96800	0.8955	M	0.90870	3.155	0.48288	D	0.999628	D	0.89917	1.0	D	0.80764	0.994	D	0.96933	0.9682	10	0.87932	D	0	-18.7944	10.5064	0.44836	0.0:0.0:0.0:1.0	.	59	P38935	SMBP2_HUMAN	Q	59	ENSP00000255078:L59Q;ENSP00000440465:L59Q	ENSP00000255078:L59Q	L	+	2	0	IGHMBP2	68430202	1.000000	0.71417	0.970000	0.41538	0.780000	0.44128	6.813000	0.75231	1.635000	0.50512	0.459000	0.35465	CTG	-	NULL		0.582	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGHMBP2	protein_coding	OTTHUMT00000396862.1	T	NM_002180		68430202	+1	no_errors	NM_002180	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
KIF19	124602	genome.wustl.edu	37	17	72350990	72350990	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr17:72350990G>A	ENST00000389916.4	+	19	2914	c.2776G>A	c.(2776-2778)Gtg>Atg	p.V926M	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	926					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CAGGATGCCAGTGTGCAGGCA	0.612																																																0			17											29.0	32.0	31.0					17																	72350990		1999	4122	6121	69862585	SO:0001583	missense	124602			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2776G>A	17.37:g.72350990G>A	ENSP00000374566:p.Val926Met		69862585	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1	p.V926M	ENST00000389916.4	37	c.2776	CCDS32718.2	17	.	.	.	.	.	.	.	.	.	.	G	7.946	0.743832	0.15642	.	.	ENSG00000196169	ENST00000389916	T	0.72051	-0.62	4.77	3.79	0.43588	.	.	.	.	.	T	0.60366	0.2263	L	0.36672	1.1	0.09310	N	1	B	0.29805	0.257	B	0.35353	0.201	T	0.50189	-0.8857	9	0.31617	T	0.26	.	7.3291	0.26571	0.089:0.0:0.7469:0.164	.	926	Q2TAC6	KIF19_HUMAN	M	926	ENSP00000374566:V926M	ENSP00000374566:V926M	V	+	1	0	KIF19	69862585	0.146000	0.22672	0.074000	0.20217	0.126000	0.20510	0.618000	0.24373	2.214000	0.71695	0.306000	0.20318	GTG	-	NULL		0.612	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF19	protein_coding	OTTHUMT00000319644.2	G	NM_153209		69862585	+1	no_errors	NM_153209	genbank	human	validated	54_36p	missense	SNP	0.148	A
INPPL1	3636	genome.wustl.edu	37	11	71939237	71939237	+	Silent	SNP	T	T	C			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr11:71939237T>C	ENST00000298229.2	+	2	390	c.186T>C	c.(184-186)taT>taC	p.Y62Y	INPPL1_ENST00000538751.1_5'UTR|INPPL1_ENST00000541756.1_5'UTR	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	62	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCATCAGGTATCAGAAGCATG	0.587																																																0			11											121.0	107.0	112.0					11																	71939237		2200	4293	6493	71616885	SO:0001819	synonymous_variant	3636			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.186T>C	11.37:g.71939237T>C			71616885	B2RTX5|Q13577|Q13578	Silent	SNP	superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_Exo_endo_phos,HMMSmart_IPPc,HMMPfam_Exo_endo_phos,superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1	p.Y62	ENST00000298229.2	37	c.186	CCDS8213.1	11																																																																																			-	superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2		0.587	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPPL1	protein_coding	OTTHUMT00000396789.1	T	NM_001567		71616885	+1	no_errors	NM_001567	genbank	human	reviewed	54_36p	silent	SNP	1.000	C
C2CD3	26005	genome.wustl.edu	37	11	73785420	73785420	+	Missense_Mutation	SNP	G	G	T	rs576006031		TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr11:73785420G>T	ENST00000334126.7	-	24	5055	c.4829C>A	c.(4828-4830)aCc>aAc	p.T1610N	C2CD3_ENST00000313663.7_Missense_Mutation_p.T1610N			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1610					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGGGACCTGGGTGGAGGCAGG	0.577																																																0			11											132.0	113.0	120.0					11																	73785420		2200	4293	6493	73463068	SO:0001583	missense	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4829C>A	11.37:g.73785420G>T	ENSP00000334379:p.Thr1610Asn		73463068	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2	p.T1610N	ENST00000334126.7	37	c.4829		11	.	.	.	.	.	.	.	.	.	.	G	3.500	-0.101989	0.06967	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.14144	2.91;2.92;2.53	5.25	3.38	0.38709	.	1.162760	0.05975	N	0.643188	T	0.12008	0.0292	L	0.27053	0.805	0.22366	N	0.999164	P	0.39216	0.664	B	0.38616	0.277	T	0.33471	-0.9867	10	0.23302	T	0.38	-0.4874	10.1166	0.42593	0.2244:0.0:0.7756:0.0	.	1610	Q4AC94-1	.	N	1610;1610;1591;418	ENSP00000334379:T1610N;ENSP00000323339:T1610N;ENSP00000388750:T418N	ENSP00000323339:T1610N	T	-	2	0	C2CD3	73463068	0.981000	0.34729	0.957000	0.39632	0.145000	0.21501	0.997000	0.29731	0.870000	0.35726	0.655000	0.94253	ACC	-	NULL		0.577	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	protein_coding		G	NM_015531		73463068	-1	no_errors	NM_015531	genbank	human	validated	54_36p	missense	SNP	0.003	T
PRUNE2	158471	genome.wustl.edu	37	9	79319997	79319997	+	Missense_Mutation	SNP	A	A	C			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr9:79319997A>C	ENST00000376718.3	-	8	7316	c.7193T>G	c.(7192-7194)tTg>tGg	p.L2398W	PRUNE2_ENST00000428286.1_Missense_Mutation_p.L2039W	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2398					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAGATAAGACAAATCAAAGGG	0.502																																																0			9											72.0	67.0	68.0					9																	79319997		1568	3582	5150	78509817	SO:0001583	missense	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7193T>G	9.37:g.79319997A>C	ENSP00000365908:p.Leu2398Trp		78509817	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	superfamily_Ferritin-like,superfamily_CRAL/TRIO domain,HMMSmart_SM00516	p.L2039W	ENST00000376718.3	37	c.6116	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.48|14.48	2.549211|2.549211	0.45383|0.45383	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.57907	.|0.37;0.38	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.000000	.|0.47093	.|D	.|0.000251	T|T	0.67915|0.67915	0.2944|0.2944	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.75484	.|0.986	T|T	0.71374|0.71374	-0.4612|-0.4612	5|10	.|0.87932	.|D	.|0	-10.1491|-10.1491	9.4534|9.4534	0.38741|0.38741	0.9144:0.0:0.0856:0.0|0.9144:0.0:0.0856:0.0	.|.	.|2398	.|Q8WUY3	.|PRUN2_HUMAN	L|W	1719|2398;2039;2397	.|ENSP00000365908:L2398W;ENSP00000397425:L2039W	.|ENSP00000365908:L2398W	F|L	-|-	3|2	2|0	PRUNE2|PRUNE2	78509817|78509817	0.877000|0.877000	0.30153|0.30153	0.997000|0.997000	0.53966|0.53966	0.212000|0.212000	0.24457|0.24457	3.163000|3.163000	0.50763|0.50763	2.220000|2.220000	0.72140|0.72140	0.533000|0.533000	0.62120|0.62120	TTT|TTG	-	NULL		0.502	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	protein_coding	OTTHUMT00000052730.2	A	NM_138818		78509817	-1	no_errors	ENST00000376718	ensembl	human	known	54_36p	missense	SNP	0.993	C
PHIP	55023	genome.wustl.edu	37	6	79700592	79700592	+	Missense_Mutation	SNP	A	A	G			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr6:79700592A>G	ENST00000275034.4	-	20	2479	c.2312T>C	c.(2311-2313)gTc>gCc	p.V771A		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	771					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TACCTTTGAGACAGTGGGTAT	0.299																																																0			6											68.0	71.0	70.0					6																	79700592		2203	4296	6499	79757311	SO:0001583	missense	55023			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2312T>C	6.37:g.79700592A>G	ENSP00000275034:p.Val771Ala		79757311	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	HMMSmart_SM00320,HMMPfam_WD40,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,PatternScan_WD_REPEATS_1,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1	p.V771A	ENST00000275034.4	37	c.2312	CCDS4987.1	6	.	.	.	.	.	.	.	.	.	.	A	9.576	1.122275	0.20877	.	.	ENSG00000146247	ENST00000275034	T	0.27890	1.64	5.14	3.98	0.46160	.	0.376390	0.25011	N	0.033823	T	0.09113	0.0225	L	0.39898	1.24	0.24273	N	0.995237	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.25847	-1.0120	9	.	.	.	-1.7186	8.9949	0.36045	0.9117:0.0:0.0883:0.0	.	771;771	A7J992;Q8WWQ0	.;PHIP_HUMAN	A	771	ENSP00000275034:V771A	.	V	-	2	0	PHIP	79757311	0.888000	0.30383	0.920000	0.36463	0.921000	0.55340	4.086000	0.57664	0.810000	0.34279	0.402000	0.26972	GTC	-	NULL		0.299	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHIP	protein_coding	OTTHUMT00000041297.2	A			79757311	-1	no_errors	NM_017934	genbank	human	validated	54_36p	missense	SNP	0.865	G
CTSLP6	642413	genome.wustl.edu	37	10	81630754	81630754	+	IGR	SNP	A	A	C	rs377555400		TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr10:81630754A>C								NUTM2E (20122 upstream) : MBL1P (49179 downstream)																							CCTGTTCTTCACCAGCCAATA	0.413																																																0			10																																								81620734	SO:0001628	intergenic_variant	642413																															10.37:g.81630754A>C			81620734		RNA	SNP	-	NULL		37	NULL		10																																																																																			-	-	0	0.413					LOC642413			A			81620734	-1	pseudogene	XR_016155	genbank	human	model	54_36p	rna	SNP	1.000	C
PRKACB	5567	genome.wustl.edu	37	1	84668419	84668419	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr1:84668419G>C	ENST00000370689.2	+	8	960	c.696G>C	c.(694-696)atG>atC	p.M232I	PRKACB_ENST00000394839.2_Missense_Mutation_p.M202I|PRKACB_ENST00000394838.2_Missense_Mutation_p.M239I|PRKACB_ENST00000370682.3_Missense_Mutation_p.M236I|PRKACB_ENST00000370688.3_Missense_Mutation_p.M232I|PRKACB_ENST00000370685.3_Missense_Mutation_p.M279I|PRKACB_ENST00000370680.1_Missense_Mutation_p.M238I	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	232	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TCTATGAAATGGCAGCTGGCT	0.373																																																0			1											154.0	149.0	150.0					1																	84668419		2203	4300	6503	84441007	SO:0001583	missense	5567			BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.696G>C	1.37:g.84668419G>C	ENSP00000359723:p.Met232Ile		84441007	B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Missense_Mutation	SNP	superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X	p.M279I	ENST00000370689.2	37	c.837	CCDS691.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.209892	0.95069	.	.	ENSG00000142875	ENST00000370689;ENST00000370688;ENST00000370685;ENST00000370684;ENST00000394838;ENST00000370682;ENST00000370679;ENST00000370680;ENST00000394839;ENST00000370681	T;T;T;T;T;T;T;T	0.08807	3.05;3.05;3.05;3.05;3.05;3.05;3.05;3.05	5.54	5.54	0.83059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.033218	0.85682	D	0.000000	T	0.22666	0.0547	M	0.69463	2.115	0.80722	D	1	B;D;D;D;D;D;D;D;D;B;P	0.69078	0.343;0.995;0.996;0.984;0.997;0.995;0.966;0.997;0.988;0.343;0.843	P;D;D;D;D;D;D;D;D;P;D	0.78314	0.794;0.957;0.975;0.974;0.991;0.957;0.957;0.976;0.986;0.794;0.936	T	0.00565	-1.1668	10	0.87932	D	0	-20.3169	19.8568	0.96762	0.0:0.0:1.0:0.0	.	232;220;239;238;202;238;236;279;279;232;232	B2RB89;P22694-3;B4DKB0;B1APG3;B1APG4;P22694-6;P22694-7;P22694-2;B4E2L0;P22694;P22694-8	.;.;.;.;.;.;.;.;.;KAPCB_HUMAN;.	I	232;232;279;220;239;236;238;238;202;194	ENSP00000359723:M232I;ENSP00000359722:M232I;ENSP00000359719:M279I;ENSP00000359718:M220I;ENSP00000378314:M239I;ENSP00000359716:M236I;ENSP00000359714:M238I;ENSP00000378315:M202I	ENSP00000359713:M238I	M	+	3	0	PRKACB	84441007	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.751000	0.98889	2.764000	0.94973	0.650000	0.86243	ATG	-	superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase		0.373	PRKACB-001	KNOWN	basic|CCDS	protein_coding	PRKACB	protein_coding	OTTHUMT00000027641.1	G	NM_182948		84441007	+1	no_errors	NM_182948	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
MAN2A2	4122	genome.wustl.edu	37	15	91463013	91463013	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr15:91463013G>T	ENST00000559717.1	+	23	3908	c.3449G>T	c.(3448-3450)gGt>gTt	p.G1150V	MAN2A2_ENST00000431652.2_Missense_Mutation_p.G658V|MAN2A2_ENST00000430376.2_Missense_Mutation_p.G340V|AC068831.15_ENST00000560522.1_RNA|MAN2A2_ENST00000360468.3_Missense_Mutation_p.G1150V			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1150					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTCCGCTTGGGTTAGGGCTTC	0.527																																																0			15											130.0	110.0	117.0					15																	91463013		2198	4298	6496	89264017	SO:0001583	missense	4122			L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.3449G>T	15.37:g.91463013G>T	ENSP00000452948:p.Gly1150Val		89264017	A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	superfamily_Glyco_hydro/deAcase_b/a-brl,HMMPfam_Glyco_hydro_38,superfamily_SSF88688,HMMPfam_Alpha-mann_mid,superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C	p.G1150V	ENST00000559717.1	37	c.3449	CCDS32332.1	15	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586295	0.46110	.	.	ENSG00000196547	ENST00000360468;ENST00000431652;ENST00000430376	T;D;D	0.94046	-1.25;-1.79;-3.34	5.24	4.3	0.51218	Glycoside hydrolase-type carbohydrate-binding (1);	0.256729	0.41294	N	0.000907	D	0.88702	0.6508	L	0.28274	0.84	0.58432	D	0.999996	P;B;B	0.38788	0.647;0.136;0.136	B;B;B	0.38378	0.272;0.033;0.074	D	0.88992	0.3415	10	0.66056	D	0.02	-6.7698	13.8834	0.63693	0.0:0.0:0.723:0.2769	.	658;778;1150	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	V	1150;658;340	ENSP00000353655:G1150V;ENSP00000388221:G658V;ENSP00000394372:G340V	ENSP00000353655:G1150V	G	+	2	0	MAN2A2	89264017	1.000000	0.71417	0.998000	0.56505	0.746000	0.42486	3.663000	0.54518	1.323000	0.45263	0.555000	0.69702	GGT	-	NULL		0.527	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A2	protein_coding	OTTHUMT00000418246.5	G	NM_006122		89264017	+1	no_errors	NM_006122	genbank	human	validated	54_36p	missense	SNP	1.000	T
EEA1	8411	genome.wustl.edu	37	12	93219961	93219961	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr12:93219961G>C	ENST00000322349.8	-	13	1769	c.1505C>G	c.(1504-1506)gCa>gGa	p.A502G		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	502	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCGAAGTTTTGCCGTGGTGCT	0.323																																																0			12											219.0	198.0	205.0					12																	93219961		2203	4300	6503	91744092	SO:0001583	missense	8411			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1505C>G	12.37:g.93219961G>C	ENSP00000317955:p.Ala502Gly		91744092	Q14221	Missense_Mutation	SNP	HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_FYVE_PHD_ZnF,HMMSmart_FYVE,HMMPfam_FYVE	p.A502G	ENST00000322349.8	37	c.1505	CCDS31874.1	12	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372396	0.24857	.	.	ENSG00000102189	ENST00000322349	T	0.78003	-1.14	5.14	5.14	0.70334	.	0.656596	0.13211	N	0.405143	T	0.63768	0.2539	N	0.08118	0	0.30409	N	0.779293	B	0.24258	0.1	B	0.21708	0.036	T	0.57837	-0.7742	10	0.29301	T	0.29	.	18.5865	0.91191	0.0:0.0:1.0:0.0	.	502	Q15075	EEA1_HUMAN	G	502	ENSP00000317955:A502G	ENSP00000317955:A502G	A	-	2	0	EEA1	91744092	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	6.347000	0.73004	2.401000	0.81631	0.460000	0.39030	GCA	-	NULL		0.323	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEA1	protein_coding	OTTHUMT00000407304.1	G	NM_003566		91744092	-1	no_errors	NM_003566	genbank	human	validated	54_36p	missense	SNP	1.000	C
CNOT11	55571	genome.wustl.edu	37	2	101879065	101879065	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr2:101879065C>G	ENST00000289382.3	+	3	907	c.744C>G	c.(742-744)gaC>gaG	p.D248E		NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	248					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)											GTGACCCAGACCCGGATTCTT	0.438																																																0			2											84.0	84.0	84.0					2																	101879065		2203	4300	6503	101245497	SO:0001583	missense	55571			AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 29"""	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.744C>G	2.37:g.101879065C>G	ENSP00000289382:p.Asp248Glu		101245497	Q6P2M9|Q8N681	Missense_Mutation	SNP	HMMPfam_DUF2363	p.D248E	ENST00000289382.3	37	c.744	CCDS2050.1	2	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726995	0.48833	.	.	ENSG00000158435	ENST00000289382	T	0.37752	1.18	5.8	3.68	0.42216	.	0.045796	0.85682	D	0.000000	T	0.52613	0.1745	L	0.59436	1.845	0.58432	D	0.999994	D	0.64830	0.994	D	0.72625	0.978	T	0.48758	-0.9007	10	0.27785	T	0.31	-35.8563	13.7671	0.63002	0.0:0.8565:0.0:0.1435	.	248	Q9UKZ1	CB029_HUMAN	E	248	ENSP00000289382:D248E	ENSP00000289382:D248E	D	+	3	2	C2orf29	101245497	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.642000	0.37207	1.461000	0.47929	0.655000	0.94253	GAC	-	NULL		0.438	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf29	protein_coding	OTTHUMT00000253181.1	C	NM_017546		101245497	+1	no_errors	NM_017546	genbank	human	validated	54_36p	missense	SNP	1.000	G
SENP7	57337	genome.wustl.edu	37	3	101085490	101085490	+	Silent	SNP	G	G	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr3:101085490G>A	ENST00000394095.2	-	9	1155	c.1102C>T	c.(1102-1104)Cta>Tta	p.L368L	SENP7_ENST00000348610.3_Silent_p.L335L|SENP7_ENST00000314261.7_Silent_p.L302L|SENP7_ENST00000394091.1_Silent_p.L204L|SENP7_ENST00000394094.2_Silent_p.L303L|SENP7_ENST00000358203.3_Silent_p.L204L	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	368						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGTGAGGATAGTTTAGTAAAA	0.383																																																0			3											111.0	109.0	110.0					3																	101085490		2203	4300	6503	102568180	SO:0001819	synonymous_variant	57337				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.1102C>T	3.37:g.101085490G>A			102568180	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Silent	SNP	superfamily_Cysteine proteinases,HMMPfam_Peptidase_C48	p.L368	ENST00000394095.2	37	c.1102	CCDS2941.2	3																																																																																			-	NULL		0.383	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP7	protein_coding	OTTHUMT00000313957.2	G	NM_020654		102568180	-1	no_errors	NM_020654	genbank	human	validated	54_36p	silent	SNP	0.001	A
SARS	6301	genome.wustl.edu	37	1	109771018	109771018	+	Silent	SNP	G	G	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr1:109771018G>A	ENST00000234677.2	+	3	327	c.252G>A	c.(250-252)gtG>gtA	p.V84V	SARS_ENST00000369923.4_Silent_p.V84V	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	84					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	CAGAGAATGTGCTGAGTTTCG	0.373																																																0			1											186.0	167.0	173.0					1																	109771018		2203	4300	6503	109572541	SO:0001819	synonymous_variant	6301			BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	10537	protein-coding gene	gene with protein product	"""serine tRNA ligase 1, cytoplasmic"""	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.252G>A	1.37:g.109771018G>A			109572541	B2R6Y9|Q5T5C8|Q9NSE3	Silent	SNP	HMMPfam_Seryl_tRNA_N,superfamily_tRNA-binding arm,superfamily_Class II aaRS and biotin synthetases,HMMPfam_tRNA-synt_2b	p.V84	ENST00000234677.2	37	c.252	CCDS795.1	1																																																																																			-	HMMPfam_Seryl_tRNA_N,superfamily_tRNA-binding arm		0.373	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARS	protein_coding	OTTHUMT00000032394.2	G	NM_006513		109572541	+1	no_errors	NM_006513	genbank	human	reviewed	54_36p	silent	SNP	0.003	A
CELSR2	1952	genome.wustl.edu	37	1	109795086	109795086	+	Silent	SNP	G	G	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr1:109795086G>A	ENST00000271332.3	+	1	2446	c.2385G>A	c.(2383-2385)aaG>aaA	p.K795K		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	795	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TTCCCCAGAAGTCCGACACCA	0.567																																					NSCLC(158;1285 2011 34800 34852 42084)											0			1											107.0	88.0	94.0					1																	109795086		2203	4300	6503	109596609	SO:0001819	synonymous_variant	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2385G>A	1.37:g.109795086G>A			109596609	Q5T2Y7|Q92566	Silent	SNP	PatternScan_G_PROTEIN_RECEP_F2_1,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_EGF_CA,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,PatternScan_ASX_HYDROXYL,HMMSmart_TNFR,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,HMMSmart_HormR,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2	p.K795	ENST00000271332.3	37	c.2385	CCDS796.1	1																																																																																			-	superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA		0.567	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	protein_coding	OTTHUMT00000033200.1	G	NM_001408		109596609	+1	no_errors	NM_001408	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
TTF2	8458	genome.wustl.edu	37	1	117629064	117629064	+	Missense_Mutation	SNP	A	A	T			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr1:117629064A>T	ENST00000369466.4	+	12	2124	c.2080A>T	c.(2080-2082)Act>Tct	p.T694S		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	694	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CATCGTGATCACTACCTATAG	0.488																																																0			1											111.0	98.0	102.0					1																	117629064		2203	4300	6503	117430587	SO:0001583	missense	8458			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.2080A>T	1.37:g.117629064A>T	ENSP00000358478:p.Thr694Ser		117430587	A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	HMMPfam_zf-GRF,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C	p.T694S	ENST00000369466.4	37	c.2080	CCDS892.1	1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.690773	0.88735	.	.	ENSG00000116830	ENST00000369466	D	0.95588	-3.75	5.25	5.25	0.73442	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.36409	N	0.002603	D	0.97043	0.9034	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97852	1.0275	10	0.87932	D	0	-16.9256	13.4065	0.60915	1.0:0.0:0.0:0.0	.	694	Q9UNY4	TTF2_HUMAN	S	694	ENSP00000358478:T694S	ENSP00000358478:T694S	T	+	1	0	TTF2	117430587	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.806000	0.86020	2.109000	0.64355	0.455000	0.32223	ACT	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N		0.488	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF2	protein_coding	OTTHUMT00000033277.3	A			117430587	+1	no_errors	NM_003594	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
PDZD8	118987	genome.wustl.edu	37	10	119043968	119043968	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr10:119043968G>A	ENST00000334464.5	-	5	2515	c.2276C>T	c.(2275-2277)gCc>gTc	p.A759V	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	759					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.A759V(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		AGGTGAGGGGGCTTCCAGTCT	0.418																																																1	Substitution - Missense(1)	large_intestine(1)	10											128.0	114.0	119.0					10																	119043968		2203	4300	6503	119033958	SO:0001583	missense	118987			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2276C>T	10.37:g.119043968G>A	ENSP00000334642:p.Ala759Val		119033958	Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	PatternScan_ZF_DAG_PE_1,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_SSF57889,HMMPfam_C1_1,HMMSmart_C1	p.A759V	ENST00000334464.5	37	c.2276	CCDS7600.1	10	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664717	0.67700	.	.	ENSG00000165650	ENST00000334464	D	0.86769	-2.17	5.96	5.96	0.96718	.	0.113339	0.64402	D	0.000013	D	0.84074	0.5392	L	0.29908	0.895	0.43360	D	0.995434	P	0.46706	0.883	B	0.42827	0.399	D	0.84944	0.0867	10	0.54805	T	0.06	-3.8266	20.4116	0.99017	0.0:0.0:1.0:0.0	.	759	Q8NEN9	PDZD8_HUMAN	V	759	ENSP00000334642:A759V	ENSP00000334642:A759V	A	-	2	0	PDZD8	119033958	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.827000	0.97445	0.655000	0.94253	GCC	-	NULL		0.418	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD8	protein_coding	OTTHUMT00000050565.1	G	NM_173791		119033958	-1	no_errors	NM_173791	genbank	human	provisional	54_36p	missense	SNP	1.000	A
ARHGEF12	23365	genome.wustl.edu	37	11	120347425	120347425	+	Silent	SNP	A	A	G			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr11:120347425A>G	ENST00000397843.2	+	34	3499	c.3333A>G	c.(3331-3333)gaA>gaG	p.E1111E	ARHGEF12_ENST00000532993.1_Silent_p.E1008E|ARHGEF12_ENST00000356641.3_Silent_p.E1092E	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1111	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AGATTTATGAACTGGTGGCAC	0.363			T	MLL	AML																																		Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0			11											120.0	114.0	116.0					11																	120347425		1865	4113	5978	119852635	SO:0001819	synonymous_variant	23365			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3333A>G	11.37:g.120347425A>G			119852635	O15086|Q6P526	Silent	SNP	superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_RGS-like,superfamily_Regulator of G-protein signaling RGS,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_PH domain-like,HMMSmart_SM00233	p.E1111	ENST00000397843.2	37	c.3333	CCDS41727.1	11																																																																																			-	superfamily_PH domain-like,HMMSmart_SM00233		0.363	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	protein_coding	OTTHUMT00000388052.1	A	NM_015313		119852635	+1	no_errors	NM_015313	genbank	human	reviewed	54_36p	silent	SNP	1.000	G
GRIK4	2900	genome.wustl.edu	37	11	120702642	120702642	+	Missense_Mutation	SNP	G	G	A	rs562688896		TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr11:120702642G>A	ENST00000527524.2	+	7	880	c.593G>A	c.(592-594)cGg>cAg	p.R198Q	GRIK4_ENST00000438375.2_Missense_Mutation_p.R198Q	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	198					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GATGACACCCGGGACCCCACC	0.597													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13023	0.0		0.0	False		,,,				2504	0.0															0			11											111.0	103.0	105.0					11																	120702642		2203	4299	6502	120207852	SO:0001583	missense	2900			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.593G>A	11.37:g.120702642G>A	ENSP00000435648:p.Arg198Gln		120207852	A8K9L1	Missense_Mutation	SNP	superfamily_SSF53822,HMMPfam_ANF_receptor,HMMSmart_PBPe,superfamily_SSF53850,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan	p.R198Q	ENST00000527524.2	37	c.593	CCDS8433.1	11	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316272	0.40996	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	D;D	0.82619	-1.63;-1.63	4.81	4.81	0.61882	Extracellular ligand-binding receptor (1);	0.709587	0.14039	N	0.345548	T	0.71558	0.3354	N	0.12182	0.205	0.36549	D	0.87174	B;B	0.22604	0.041;0.072	B;B	0.09377	0.004;0.004	T	0.68655	-0.5351	10	0.30078	T	0.28	.	18.0832	0.89449	0.0:0.0:1.0:0.0	.	198;198	A6H8K8;Q16099	.;GRIK4_HUMAN	Q	198	ENSP00000435648:R198Q;ENSP00000404063:R198Q	ENSP00000404063:R198Q	R	+	2	0	GRIK4	120207852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.615000	0.46368	2.477000	0.83638	0.561000	0.74099	CGG	-	superfamily_SSF53822,HMMPfam_ANF_receptor		0.597	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	protein_coding	OTTHUMT00000109760.4	G	NM_014619		120207852	+1	no_errors	NM_014619	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
LRRC43	254050	genome.wustl.edu	37	12	122674696	122674696	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr12:122674696G>A	ENST00000339777.4	+	5	710	c.682G>A	c.(682-684)Gac>Aac	p.D228N	LRRC43_ENST00000425921.1_Missense_Mutation_p.D43N	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	228										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CGTCTCCCTGGACCTGGGCTT	0.652																																																0			12											110.0	121.0	118.0					12																	122674696		2145	4249	6394	121240649	SO:0001583	missense	254050			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.682G>A	12.37:g.122674696G>A	ENSP00000344233:p.Asp228Asn		121240649	Q6ZVT9	Missense_Mutation	SNP	superfamily_Outer arm dynein light chain 1	p.D228N	ENST00000339777.4	37	c.682	CCDS45001.1	12	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064669	0.76187	.	.	ENSG00000158113	ENST00000537729;ENST00000339777;ENST00000289014;ENST00000425921	T;T;T	0.25749	1.78;1.78;1.78	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.48607	0.1509	L	0.58925	1.835	0.47819	D	0.999522	D	0.71674	0.998	D	0.81914	0.995	T	0.46428	-0.9192	10	0.52906	T	0.07	-52.8423	17.807	0.88604	0.0:0.0:1.0:0.0	.	228	Q8N309	LRC43_HUMAN	N	43;228;99;43	ENSP00000438751:D43N;ENSP00000344233:D228N;ENSP00000416628:D43N	ENSP00000289014:D99N	D	+	1	0	LRRC43	121240649	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	7.918000	0.87506	2.309000	0.77851	0.561000	0.74099	GAC	-	superfamily_Outer arm dynein light chain 1		0.652	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC43	protein_coding	OTTHUMT00000401589.1	G	NM_152759		121240649	+1	no_errors	NM_001098519	genbank	human	validated	54_36p	missense	SNP	1.000	A
TMEM132B	114795	genome.wustl.edu	37	12	126138278	126138278	+	Silent	SNP	A	A	G			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr12:126138278A>G	ENST00000299308.3	+	9	2267	c.2259A>G	c.(2257-2259)gaA>gaG	p.E753E	TMEM132B_ENST00000535886.1_Silent_p.E265E	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	753						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CAGAGGGTGAAGGACAAGGGC	0.438																																																0			12											137.0	132.0	133.0					12																	126138278		1930	4140	6070	124704231	SO:0001819	synonymous_variant	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2259A>G	12.37:g.126138278A>G			124704231	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	NULL	p.E753	ENST00000299308.3	37	c.2259	CCDS41859.1	12																																																																																			-	NULL		0.438	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	protein_coding	OTTHUMT00000400043.1	A	NM_052907		124704231	+1	no_errors	NM_052907	genbank	human	provisional	54_36p	silent	SNP	1.000	G
NUP188	23511	genome.wustl.edu	37	9	131768870	131768870	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr9:131768870G>C	ENST00000372577.2	+	44	5184	c.5163G>C	c.(5161-5163)aaG>aaC	p.K1721N	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1721					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CGCAGGGCAAGTCCACCTCTC	0.617											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			9											99.0	95.0	96.0					9																	131768870		2203	4300	6503	130808691	SO:0001583	missense	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.5163G>C	9.37:g.131768870G>C	ENSP00000361658:p.Lys1721Asn	1590	130808691	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	HMMPfam_Nup188	p.K1721N	ENST00000372577.2	37	c.5163	CCDS35156.1	9	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938007	0.73557	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.35605	1.3	5.22	3.36	0.38483	.	0.146868	0.64402	D	0.000012	T	0.41673	0.1169	L	0.54323	1.7	0.46279	D	0.998966	B	0.20780	0.048	B	0.38803	0.282	T	0.37686	-0.9695	10	0.66056	D	0.02	-2.2628	11.2595	0.49074	0.1514:0.0:0.8486:0.0	.	1721	Q5SRE5	NU188_HUMAN	N	1610;1721	ENSP00000361658:K1721N	ENSP00000349125:K1610N	K	+	3	2	NUP188	130808691	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	2.086000	0.41643	0.561000	0.29186	0.561000	0.74099	AAG	-	NULL		0.617	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	protein_coding	OTTHUMT00000054529.2	G			130808691	+1	no_errors	NM_015354	genbank	human	validated	54_36p	missense	SNP	0.953	C
GLB1L2	89944	genome.wustl.edu	37	11	134241661	134241661	+	Silent	SNP	A	A	C			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr11:134241661A>C	ENST00000535456.2	+	15	1632	c.1444A>C	c.(1444-1446)Agg>Cgg	p.R482R	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Silent_p.R482R|GLB1L2_ENST00000339772.7_Silent_p.R482R	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	482					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CACCGTGCTGAGGATCTTGGT	0.542																																																0			11											122.0	108.0	113.0					11																	134241661		2201	4297	6498	133746871	SO:0001819	synonymous_variant	89944				CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1444A>C	11.37:g.134241661A>C			133746871	A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Silent	SNP	HMMPfam_Glyco_hydro_35,superfamily_Glyco_hydro_cat,PatternScan_GLYCOSYL_HYDROL_F35	p.R482	ENST00000535456.2	37	c.1444	CCDS31724.1	11	.	.	.	.	.	.	.	.	.	.	A	7.676	0.688061	0.14973	.	.	ENSG00000149328	ENST00000525089	.	.	.	5.74	4.6	0.57074	.	.	.	.	.	T	0.57577	0.2063	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54662	-0.8260	4	.	.	.	-34.0238	7.1622	0.25671	0.5791:0.2842:0.0:0.1367	.	.	.	.	A	420	.	.	E	+	2	0	GLB1L2	133746871	1.000000	0.71417	0.999000	0.59377	0.604000	0.37047	2.036000	0.41165	1.091000	0.41335	-0.329000	0.08387	GAG	-	NULL		0.542	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L2	protein_coding	OTTHUMT00000393629.2	A	NM_138342		133746871	+1	no_errors	NM_138342	genbank	human	provisional	54_36p	silent	SNP	1.000	C
SLC9A6	10479	genome.wustl.edu	37	X	135092657	135092657	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chrX:135092657C>T	ENST00000370698.3	+	7	895	c.860C>T	c.(859-861)gCg>gTg	p.A287V	SLC9A6_ENST00000370701.1_Missense_Mutation_p.A267V|SLC9A6_ENST00000370695.4_Missense_Mutation_p.A319V	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	287					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GATGTCACAGCGATGTTCAAG	0.428																																																0			X											209.0	164.0	179.0					X																	135092657		2203	4300	6503	134920323	SO:0001583	missense	10479			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.860C>T	X.37:g.135092657C>T	ENSP00000359732:p.Ala287Val		134920323	A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	HMMPfam_Na_H_Exchanger	p.A319V	ENST00000370698.3	37	c.956	CCDS14654.1	X	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210701	0.79240	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.15603	2.41;2.41;2.41	5.49	5.49	0.81192	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.23846	0.0577	L	0.39467	1.215	0.80722	D	1	P;P;P	0.52577	0.905;0.884;0.954	B;B;P	0.48552	0.33;0.149;0.581	T	0.00842	-1.1544	10	0.87932	D	0	.	17.2696	0.87097	0.0:1.0:0.0:0.0	.	267;319;287	B4DU30;Q92581-2;Q92581	.;.;SL9A6_HUMAN	V	267;287;319	ENSP00000359735:A267V;ENSP00000359732:A287V;ENSP00000359729:A319V	ENSP00000359729:A319V	A	+	2	0	SLC9A6	134920323	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.487000	0.81328	2.290000	0.77057	0.513000	0.50165	GCG	-	HMMPfam_Na_H_Exchanger		0.428	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	SLC9A6	protein_coding	OTTHUMT00000058450.1	C	NM_006359		134920323	+1	no_errors	NM_001042537	genbank	human	validated	54_36p	missense	SNP	1.000	T
ATP11C	286410	genome.wustl.edu	37	X	138869372	138869372	+	Nonsense_Mutation	SNP	C	C	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chrX:138869372C>A	ENST00000327569.3	-	15	1659	c.1561G>T	c.(1561-1563)Gga>Tga	p.G521*	ATP11C_ENST00000359686.2_Nonsense_Mutation_p.G521*|ATP11C_ENST00000370543.1_Nonsense_Mutation_p.G521*|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Nonsense_Mutation_p.G521*|ATP11C_ENST00000370557.1_Nonsense_Mutation_p.G518*	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	521					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CTCATATATCCATTTCGATTT	0.284																																																0			X											111.0	89.0	96.0					X																	138869372		2201	4299	6500	138697038	SO:0001587	stop_gained	286410			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1561G>T	X.37:g.138869372C>A	ENSP00000332756:p.Gly521*		138697038	Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Nonsense_Mutation	SNP	HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N	p.G521*	ENST00000327569.3	37	c.1561	CCDS14668.1	X	.	.	.	.	.	.	.	.	.	.	C	38	6.947059	0.97956	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	.	.	.	5.76	3.78	0.43462	.	0.373017	0.30850	N	0.008743	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	3.1703	0.06550	0.1478:0.5578:0.141:0.1535	.	.	.	.	X	518;521;521;521;521	.	ENSP00000332756:G521X	G	-	1	0	ATP11C	138697038	0.985000	0.35326	0.970000	0.41538	0.877000	0.50540	0.599000	0.24089	2.422000	0.82143	0.594000	0.82650	GGA	-	superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N		0.284	ATP11C-008	KNOWN	basic|CCDS	protein_coding	ATP11C	protein_coding	OTTHUMT00000354945.1	C	NM_173694		138697038	-1	no_errors	NM_173694	genbank	human	validated	54_36p	nonsense	SNP	0.727	A
PGLYRP4	57115	genome.wustl.edu	37	1	153303306	153303306	+	Silent	SNP	T	T	C			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr1:153303306T>C	ENST00000359650.5	-	9	1123	c.1059A>G	c.(1057-1059)cgA>cgG	p.R353R	PGLYRP4_ENST00000368739.3_Silent_p.R349R|RNU6-160P_ENST00000384591.1_RNA	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	353	Interaction with murein.				defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGACAAGGTTCGGGCCACAT	0.562																																																0			1											117.0	110.0	113.0					1																	153303306		2203	4300	6503	151569930	SO:0001819	synonymous_variant	57115			AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.1059A>G	1.37:g.153303306T>C			151569930	A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Silent	SNP	superfamily_N-acetylmuramoyl-L-alanine amidase-like,HMMSmart_SM00701,HMMSmart_SM00644,HMMPfam_Amidase_2	p.R353	ENST00000359650.5	37	c.1059	CCDS30871.1	1																																																																																			-	superfamily_N-acetylmuramoyl-L-alanine amidase-like,HMMSmart_SM00644,HMMPfam_Amidase_2		0.562	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PGLYRP4	protein_coding	OTTHUMT00000089978.1	T	NM_020393		151569930	-1	no_errors	NM_020393	genbank	human	validated	54_36p	silent	SNP	0.001	C
GALNT13	114805	genome.wustl.edu	37	2	155099398	155099398	+	Silent	SNP	G	G	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr2:155099398G>A	ENST00000392825.3	+	6	1233	c.666G>A	c.(664-666)ctG>ctA	p.L222L	GALNT13_ENST00000409237.1_Silent_p.L222L	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	222	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AGCCTTTGCTGGCAAGAATAA	0.463																																																0			2											76.0	71.0	73.0					2																	155099398		2203	4300	6503	154807644	SO:0001819	synonymous_variant	114805			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.666G>A	2.37:g.155099398G>A			154807644	Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Silent	SNP	superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,HMMSmart_SM00458,HMMPfam_Ricin_B_lectin	p.L222	ENST00000392825.3	37	c.666	CCDS2199.1	2																																																																																			-	superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2		0.463	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT13	protein_coding	OTTHUMT00000254870.2	G	NM_052917		154807644	+1	no_errors	NM_052917	genbank	human	validated	54_36p	silent	SNP	1.000	A
FGB	2244	genome.wustl.edu	37	4	155490337	155490337	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr4:155490337G>T	ENST00000302068.4	+	6	899	c.836G>T	c.(835-837)tGg>tTg	p.W279L	FGB_ENST00000509493.1_Missense_Mutation_p.W60L|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	279	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	ACCAAAGGATGGACAGTGATT	0.388																																					NSCLC(106;1133 1613 21870 46110 52656)											0			4											109.0	109.0	109.0					4																	155490337		2203	4300	6503	155709787	SO:0001583	missense	2244				CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.836G>T	4.37:g.155490337G>T	ENSP00000306099:p.Trp279Leu		155709787	A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	HMMPfam_Fib_beta,superfamily_Fibrinogen C-terminal domain-like,HMMSmart_SM00186,HMMPfam_Fibrinogen_C,PatternScan_FIBRIN_AG_C_DOMAIN	p.W279L	ENST00000302068.4	37	c.836	CCDS3786.1	4	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039418	0.93630	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	D;T	0.91577	-2.87;0.6	5.83	5.83	0.93111	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.97216	0.9090	H	0.96547	3.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97820	1.0256	10	0.87932	D	0	.	20.126	0.97982	0.0:0.0:1.0:0.0	.	262;279	B4E1D3;P02675	.;FIBB_HUMAN	L	279;262;60	ENSP00000306099:W279L;ENSP00000426757:W60L	ENSP00000306099:W279L	W	+	2	0	FGB	155709787	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.405000	0.97313	2.749000	0.94314	0.655000	0.94253	TGG	-	superfamily_Fibrinogen C-terminal domain-like,HMMSmart_SM00186,HMMPfam_Fibrinogen_C		0.388	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGB	protein_coding	OTTHUMT00000317595.1	G	NM_005141		155709787	+1	no_errors	NM_005141	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
PKP4	8502	genome.wustl.edu	37	2	159519468	159519468	+	Silent	SNP	G	G	C			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr2:159519468G>C	ENST00000389759.3	+	14	2383	c.2271G>C	c.(2269-2271)gtG>gtC	p.V757V	PKP4_ENST00000389757.3_Silent_p.V757V|AC005042.4_ENST00000342892.4_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	757					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						AGCTGGAGGTGCCCCAGGCCC	0.532										HNSCC(62;0.18)																																						0			2											45.0	47.0	46.0					2																	159519468		2203	4300	6503	159227714	SO:0001819	synonymous_variant	0			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.2271G>C	2.37:g.159519468G>C			159227714	Q86W91	Missense_Mutation	SNP	superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185	p.C607S	ENST00000389759.3	37	c.1820	CCDS33305.1	2	.	.	.	.	.	.	.	.	.	.	G	7.058	0.565734	0.13560	.	.	ENSG00000144283	ENST00000428353	.	.	.	5.63	0.269	0.15631	.	.	.	.	.	T	0.56775	0.2008	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56974	-0.7890	5	0.87932	D	0	-10.2143	4.1729	0.10337	0.1652:0.1852:0.4963:0.1532	.	.	.	.	S	607	.	ENSP00000397471:C607S	C	+	2	0	PKP4	159227714	0.996000	0.38824	0.990000	0.47175	0.782000	0.44232	0.469000	0.22067	0.328000	0.23435	-0.340000	0.08031	TGC	-	NULL		0.532	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PK4P	protein_coding	OTTHUMT00000333250.1	G			159227714	+1	no_errors	ENST00000389756	ensembl	human	known	54_36p	missense	SNP	0.987	C
NUDCD2	134492	genome.wustl.edu	37	5	162884595	162884595	+	Missense_Mutation	SNP	T	T	C	rs190479135		TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr5:162884595T>C	ENST00000302764.4	-	2	300	c.211A>G	c.(211-213)Ata>Gta	p.I71V	HMMR_ENST00000353866.3_5'Flank|NUDCD2_ENST00000519395.1_5'UTR|HMMR_ENST00000393915.4_5'Flank|NUDCD2_ENST00000517501.1_Missense_Mutation_p.I71V	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	71	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		TCATCAGCTATTGTAGAATCA	0.269													T|||	1	0.000199681	0.0	0.0014	5008	,	,		16796	0.0		0.0	False		,,,				2504	0.0															0			5											79.0	92.0	88.0					5																	162884595		2203	4298	6501	162817173	SO:0001583	missense	134492			BX538290	CCDS4361.1	5q34	2008-02-05			ENSG00000170584	ENSG00000170584			30535	protein-coding gene	gene with protein product							Standard	NM_145266		Approved	DKFZp686E10109	uc003lze.3	Q8WVJ2	OTTHUMG00000130378	ENST00000302764.4:c.211A>G	5.37:g.162884595T>C	ENSP00000304854:p.Ile71Val		162817173	B2R4V0	Missense_Mutation	SNP	superfamily_HSP20-like chaperones,HMMPfam_CS	p.I71V	ENST00000302764.4	37	c.211	CCDS4361.1	5	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	3.530	-0.095878	0.07010	.	.	ENSG00000170584	ENST00000302764;ENST00000517501	T;T	0.12984	2.63;2.63	5.49	5.49	0.81192	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.093882	0.64402	D	0.000001	T	0.06600	0.0169	N	0.03238	-0.38	0.39718	D	0.971439	B	0.02656	0.0	B	0.01281	0.0	T	0.33599	-0.9862	10	0.11794	T	0.64	-16.8571	15.2332	0.73407	0.0:0.0:0.0:1.0	.	71	Q8WVJ2	NUDC2_HUMAN	V	71	ENSP00000304854:I71V;ENSP00000430347:I71V	ENSP00000304854:I71V	I	-	1	0	NUDCD2	162817173	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.214000	0.51161	2.088000	0.63022	0.533000	0.62120	ATA	-	superfamily_HSP20-like chaperones,HMMPfam_CS		0.269	NUDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDCD2	protein_coding	OTTHUMT00000252747.3	T	NM_145266		162817173	-1	no_errors	NM_145266	genbank	human	provisional	54_36p	missense	SNP	1.000	C
RGS21	431704	genome.wustl.edu	37	1	192335109	192335109	+	Missense_Mutation	SNP	T	T	G			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr1:192335109T>G	ENST00000417209.2	+	5	488	c.314T>G	c.(313-315)cTc>cGc	p.L105R		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	105	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						GAACCAACACTCAAATGCTTT	0.348																																																0			1											94.0	94.0	94.0					1																	192335109		1835	4085	5920	190601732	SO:0001583	missense	431704			AY643711	CCDS41448.1	1q31.2	2013-09-24	2007-08-14		ENSG00000253148	ENSG00000253148		"""Regulators of G-protein signaling"""	26839	protein-coding gene	gene with protein product		612407	"""regulator of G-protein signalling 21"""			15066150	Standard	NM_001039152		Approved		uc001gsh.3	Q2M5E4	OTTHUMG00000035594	ENST00000417209.2:c.314T>G	1.37:g.192335109T>G	ENSP00000428343:p.Leu105Arg		190601732		Missense_Mutation	SNP	superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS	p.L105R	ENST00000417209.2	37	c.314	CCDS41448.1	1	.	.	.	.	.	.	.	.	.	.	T	6.229	0.410309	0.11812	.	.	ENSG00000253148	ENST00000417209	T	0.01665	4.7	5.51	3.19	0.36642	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.31113	U	0.008240	T	0.00936	0.0031	N	0.04655	-0.195	0.26465	N	0.975387	B	0.06786	0.001	B	0.08055	0.003	T	0.48352	-0.9043	10	0.07990	T	0.79	.	8.6732	0.34163	0.0:0.1492:0.0:0.8508	.	105	Q2M5E4	RGS21_HUMAN	R	105	ENSP00000428343:L105R	ENSP00000428343:L105R	L	+	2	0	RGS21	190601732	0.007000	0.16637	0.798000	0.32154	0.807000	0.45602	1.070000	0.30653	0.390000	0.25115	0.402000	0.26972	CTC	-	superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS		0.348	RGS21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS21	protein_coding	OTTHUMT00000086387.2	T			190601732	+1	no_errors	NM_001039152	genbank	human	provisional	54_36p	missense	SNP	0.999	G
CFHR5	81494	genome.wustl.edu	37	1	196973821	196973821	+	Missense_Mutation	SNP	C	C	A			TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr1:196973821C>A	ENST00000256785.4	+	9	1470	c.1361C>A	c.(1360-1362)tCt>tAt	p.S454Y	CFHR5_ENST00000367414.5_Missense_Mutation_p.S478Y			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	454	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CCCCCTCCATCTATTAACAAT	0.398																																																0			1											132.0	130.0	131.0					1																	196973821		2203	4300	6503	195240444	SO:0001583	missense	81494			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1361C>A	1.37:g.196973821C>A	ENSP00000256785:p.Ser454Tyr		195240444	Q2NKK2	Missense_Mutation	SNP	superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP	p.S454Y	ENST00000256785.4	37	c.1361	CCDS1387.1	1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966674	0.34659	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.66280	-0.2;-0.2	3.69	2.76	0.32466	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.52484	0.1737	L	0.47716	1.5	0.09310	N	1	B	0.19706	0.038	B	0.29524	0.103	T	0.41840	-0.9486	9	0.19147	T	0.46	.	7.4232	0.27083	0.0:0.8702:0.0:0.1298	.	454	Q9BXR6	FHR5_HUMAN	Y	478;454	ENSP00000356384:S478Y;ENSP00000256785:S454Y	ENSP00000256785:S454Y	S	+	2	0	CFHR5	195240444	0.001000	0.12720	0.008000	0.14137	0.421000	0.31385	0.063000	0.14410	0.644000	0.30656	0.491000	0.48974	TCT	-	superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP		0.398	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR5	protein_coding	OTTHUMT00000088814.2	C	NM_030787		195240444	+1	no_errors	NM_030787	genbank	human	validated	54_36p	missense	SNP	0.305	A
ETNK2	55224	genome.wustl.edu	37	1	204106375	204106375	+	Missense_Mutation	SNP	C	C	T	rs533254441	byFrequency	TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr1:204106375C>T	ENST00000367202.4	-	6	1021	c.871G>A	c.(871-873)Gtg>Atg	p.V291M	ETNK2_ENST00000367199.2_Missense_Mutation_p.V222M|ETNK2_ENST00000477125.1_5'Flank|ETNK2_ENST00000367197.1_De_novo_Start_InFrame|ETNK2_ENST00000367201.3_Missense_Mutation_p.V291M|ETNK2_ENST00000367198.2_Missense_Mutation_p.V113M	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	291					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCTCATTCACGCCTGAGGGG	0.607													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18598	0.0		0.0	False		,,,				2504	0.001															0			1											41.0	39.0	40.0					1																	204106375		2203	4300	6503	202372998	SO:0001583	missense	55224			AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.871G>A	1.37:g.204106375C>T	ENSP00000356170:p.Val291Met		202372998	B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Missense_Mutation	SNP	superfamily_Kinase_like,HMMPfam_Choline_kinase	p.V291M	ENST00000367202.4	37	c.871	CCDS1442.2	1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352666	0.41700	.	.	ENSG00000143845	ENST00000367201;ENST00000367202;ENST00000367199;ENST00000455266;ENST00000367198;ENST00000422699;ENST00000452983;ENST00000444817	T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.46	5.46	0.80206	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.051867	0.85682	D	0.000000	T	0.51278	0.1665	L	0.45698	1.435	0.39177	D	0.962711	P;P;D	0.60575	0.794;0.828;0.988	B;B;P	0.48063	0.176;0.269;0.565	T	0.52403	-0.8580	10	0.34782	T	0.22	-4.5192	12.9904	0.58616	0.1612:0.8388:0.0:0.0	.	250;291;291	Q9NVF9-3;Q9NVF9;Q9NVF9-2	.;EKI2_HUMAN;.	M	291;291;222;157;113;157;148;137	ENSP00000356169:V291M;ENSP00000356170:V291M;ENSP00000356167:V222M;ENSP00000356166:V113M;ENSP00000405497:V157M;ENSP00000398091:V148M;ENSP00000406241:V137M	ENSP00000356166:V113M	V	-	1	0	ETNK2	202372998	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	3.870000	0.56070	2.557000	0.86248	0.467000	0.42956	GTG	-	superfamily_Kinase_like,HMMPfam_Choline_kinase		0.607	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETNK2	protein_coding	OTTHUMT00000087893.1	C	NM_018208		202372998	-1	no_errors	NM_018208	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ACTN2	88	genome.wustl.edu	37	1	236910986	236910986	+	Missense_Mutation	SNP	G	G	T	rs142943120	byFrequency	TCGA-20-1685-01A-01W-0633-09	TCGA-20-1685-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	3256582d-896d-454d-8b5b-371bd75b3a12	335a7e51-3ae8-4c94-b3da-18ba5da1b200	g.chr1:236910986G>T	ENST00000366578.4	+	13	1592	c.1426G>T	c.(1426-1428)Gct>Tct	p.A476S	ACTN2_ENST00000542672.1_Missense_Mutation_p.A476S|ACTN2_ENST00000546208.1_5'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	476					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CTATCACGACGCTGTGAATGT	0.398																																																0			1											45.0	47.0	46.0					1																	236910986		2203	4300	6503	234977609	SO:0001583	missense	88			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1426G>T	1.37:g.236910986G>T	ENSP00000355537:p.Ala476Ser		234977609	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,HMMPfam_efhand_Ca_insen	p.A476S	ENST00000366578.4	37	c.1426	CCDS1613.1	1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142012	0.37825	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.48522	0.81;0.81	5.73	5.73	0.89815	.	0.147340	0.64402	D	0.000009	T	0.51635	0.1686	N	0.11756	0.17	0.80722	D	1	P;B;B;B	0.37207	0.587;0.016;0.156;0.393	P;B;P;P	0.61328	0.887;0.151;0.599;0.719	T	0.30416	-0.9979	10	0.07990	T	0.79	.	20.2699	0.98469	0.0:0.0:1.0:0.0	.	261;476;246;476	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	S	476;476;245	ENSP00000443495:A476S;ENSP00000355537:A476S	ENSP00000355537:A476S	A	+	1	0	ACTN2	234977609	1.000000	0.71417	0.970000	0.41538	0.676000	0.39594	5.635000	0.67841	2.854000	0.98071	0.655000	0.94253	GCT	-	superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150		0.398	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	protein_coding	OTTHUMT00000096628.1	G	NM_001103		234977609	+1	no_errors	NM_001103	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
