#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACACA	31	genome.wustl.edu	37	17	35454000	35454000	+	Silent	SNP	A	A	G			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr17:35454000A>G	ENST00000394406.2	-	54	6901	c.6711T>C	c.(6709-6711)ccT>ccC	p.P2237P	ACACA_ENST00000360679.3_Silent_p.P2179P|ACACA_ENST00000353139.5_Silent_p.P2274P|ACACA_ENST00000361253.5_Silent_p.P363P|ACACA_ENST00000335166.5_Silent_p.P2159P	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2237					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CAGTCAGCTCAGGGTTGGCAT	0.498																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	dbGAP											0													179.0	155.0	163.0					17																	35454000		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.6711T>C	17.37:g.35454000A>G			B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.P2274	ENST00000394406.2	37	c.6822	CCDS11317.1	17																																																																																			ACACA	-	NULL	ENSG00000132142		0.498	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	92	0.00	0	A	NM_198836		35454000	35454000	-1	no_errors	ENST00000353139	ensembl	human	known	69_37n	silent	53	29.33	22	SNP	0.994	G
ACSS1	84532	genome.wustl.edu	37	20	24988539	24988539	+	Silent	SNP	G	G	A			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr20:24988539G>A	ENST00000323482.4	-	14	2008	c.1929C>T	c.(1927-1929)gtC>gtT	p.V643V	ACSS1_ENST00000537502.1_Silent_p.V560V|ACSS1_ENST00000542618.1_Silent_p.V522V|ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000484396.1_5'UTR	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	643					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCCGCCGCATGACCTTCCCAG	0.577																																						dbGAP											0													97.0	79.0	85.0					20																	24988539		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.1929C>T	20.37:g.24988539G>A			B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Silent	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Ac_CoA_lig	p.V643	ENST00000323482.4	37	c.1929	CCDS13167.1	20																																																																																			ACSS1	-	tigrfam_Ac_CoA_lig	ENSG00000154930		0.577	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS1	HGNC	protein_coding	OTTHUMT00000078386.2	62	0.00	0	G	NM_032501		24988539	24988539	-1	no_errors	ENST00000323482	ensembl	human	known	69_37n	silent	37	45.59	31	SNP	1.000	A
ALS2	57679	genome.wustl.edu	37	2	202606414	202606414	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr2:202606414G>C	ENST00000264276.6	-	11	2706	c.2334C>G	c.(2332-2334)ttC>ttG	p.F778L	ALS2_ENST00000457679.2_Missense_Mutation_p.F90L	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	778	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AACTATCCAAGAAGAGACTTG	0.463																																						dbGAP											0													66.0	64.0	64.0					2																	202606414		1901	4124	6025	-	-	-	SO:0001583	missense	0			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.2334C>G	2.37:g.202606414G>C	ENSP00000264276:p.Phe778Leu		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,prints_Reg_chr_condens,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain	p.F778L	ENST00000264276.6	37	c.2334	CCDS42800.1	2	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690597	0.88735	.	.	ENSG00000003393	ENST00000264276;ENST00000457679	T;T	0.65549	-0.16;-0.16	5.97	5.97	0.96955	Dbl homology (DH) domain (4);	0.000000	0.85682	D	0.000000	T	0.69672	0.3137	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.91635	0.987;0.999;0.984	T	0.70702	-0.4799	10	0.66056	D	0.02	.	11.3462	0.49563	0.108:0.0:0.892:0.0	.	778;778;778	Q96Q42-3;Q6IQ41;Q96Q42	.;.;ALS2_HUMAN	L	778;90	ENSP00000264276:F778L;ENSP00000394823:F90L	ENSP00000264276:F778L	F	-	3	2	ALS2	202314659	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.440000	0.59975	2.836000	0.97738	0.655000	0.94253	TTC	ALS2	-	pfam_DH-domain,superfamily_DH-domain,pfscan_DH-domain	ENSG00000003393		0.463	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2	HGNC	protein_coding	OTTHUMT00000335562.3	77	0.00	0	G	NM_020919		202606414	202606414	-1	no_errors	ENST00000264276	ensembl	human	known	69_37n	missense	40	47.37	36	SNP	1.000	C
ARMCX1	51309	genome.wustl.edu	37	X	100809228	100809228	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chrX:100809228G>A	ENST00000372829.3	+	4	1686	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	439						integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						AAATCACAATGATCTGGTGGT	0.358																																						dbGAP											0													55.0	55.0	55.0					X																	100809228		2160	4264	6424	-	-	-	SO:0001583	missense	0			AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"""Armadillo repeat containing"""	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.1315G>A	X.37:g.100809228G>A	ENSP00000361917:p.Asp439Asn		Q53HK2|Q9H2Q0	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.D439N	ENST00000372829.3	37	c.1315	CCDS14487.1	X	.	.	.	.	.	.	.	.	.	.	g	16.08	3.020921	0.54576	.	.	ENSG00000126947	ENST00000372829;ENST00000538894	T	0.60548	0.18	3.03	3.03	0.35002	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67813	0.2933	L	0.60067	1.865	0.44162	D	0.99696	D	0.89917	1.0	D	0.85130	0.997	T	0.68070	-0.5506	10	0.52906	T	0.07	-17.1513	8.6881	0.34249	0.0:0.0:1.0:0.0	.	439	Q9P291	ARMX1_HUMAN	N	439;144	ENSP00000361917:D439N	ENSP00000361917:D439N	D	+	1	0	ARMCX1	100695884	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	4.439000	0.59968	1.778000	0.52293	0.415000	0.27848	GAT	ARMCX1	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	ENSG00000126947		0.358	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMCX1	HGNC	protein_coding	OTTHUMT00000057561.1	353	0.00	0	G	NM_016608		100809228	100809228	+1	no_errors	ENST00000372829	ensembl	human	known	69_37n	missense	208	34.59	110	SNP	0.997	A
AXDND1	126859	genome.wustl.edu	37	1	179337954	179337955	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr1:179337954_179337955insA	ENST00000367618.3	+	3	504_505	c.117_118insA	c.(118-120)aaafs	p.K40fs	AXDND1_ENST00000461179.2_Intron|AXDND1_ENST00000457238.2_Frame_Shift_Ins_p.K40fs	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	40										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGCTAAAGGAGAAAAAAAATAT	0.381																																						dbGAP											0										5,4259		0,5,2127						5.2	1.0			50	14,8240		0,14,4113	no	frameshift	AXDND1	NM_144696.4		0,19,6240	A1A1,A1R,RR		0.1696,0.1173,0.1518				19,12499				-	-	-	SO:0001589	frameshift_variant	0			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.125dupA	1.37:g.179337962_179337962dupA	ENSP00000356590:p.Lys40fs		Q6AWB2|Q96LJ3|Q96M01	Frame_Shift_Ins	INS	pfam_Axonemal_dynein_light_chain	p.N41fs	ENST00000367618.3	37	c.117_118	CCDS30948.1	1																																																																																			AXDND1	-	NULL	ENSG00000162779		0.381	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AXDND1	HGNC	protein_coding	OTTHUMT00000085312.1	102	0.00	0	-	NM_144696		179337954	179337955	+1	no_errors	ENST00000367618	ensembl	human	known	69_37n	frame_shift_ins	97	19.17	23	INS	0.827:0.781	A
BLK	640	genome.wustl.edu	37	8	11405607	11405608	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr8:11405607_11405608insG	ENST00000259089.4	+	4	834_835	c.242_243insG	c.(241-246)aaggggfs	p.KG81fs	BLK_ENST00000529894.1_Frame_Shift_Ins_p.KG10fs	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	81	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CAGATGCTGAAGGGGGAGAAGC	0.554																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"""SH2 domain containing"""	1057	protein-coding gene	gene with protein product		191305	"""B lymphoid tyrosine kinase"""			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.247dupG	8.37:g.11405612_11405612dupG	ENSP00000259089:p.Lys81fs		Q16291|Q96IN1	Frame_Shift_Ins	INS	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.E83fs	ENST00000259089.4	37	c.242_243	CCDS5982.1	8																																																																																			BLK	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	ENSG00000136573		0.554	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLK	HGNC	protein_coding	OTTHUMT00000207460.1	31	0.00	0	-			11405607	11405608	+1	no_errors	ENST00000259089	ensembl	human	known	69_37n	frame_shift_ins	18	10.00	2	INS	1.000:1.000	G
C20orf96	140680	genome.wustl.edu	37	20	259038	259038	+	Silent	SNP	C	C	T			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr20:259038C>T	ENST00000360321.2	-	6	636	c.498G>A	c.(496-498)aaG>aaA	p.K166K	C20orf96_ENST00000400269.3_Silent_p.K108K|C20orf96_ENST00000382369.5_Silent_p.K131K	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	166										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCAGCCTCTTCTTGTTTGAGT	0.522																																						dbGAP											0													168.0	173.0	171.0					20																	259038		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.498G>A	20.37:g.259038C>T			A3KPE0|B2RPH9|Q8N840|Q8NAX5	Silent	SNP	NULL	p.K166	ENST00000360321.2	37	c.498	CCDS12994.1	20																																																																																			C20orf96	-	NULL	ENSG00000196476		0.522	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf96	HGNC	protein_coding	OTTHUMT00000077439.2	69	0.00	0	C	NM_153269		259038	259038	-1	no_errors	ENST00000360321	ensembl	human	known	69_37n	silent	65	24.14	21	SNP	0.414	T
CAMSAP1	157922	genome.wustl.edu	37	9	138714836	138714836	+	Silent	SNP	C	C	A	rs144214856	byFrequency	TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr9:138714836C>A	ENST00000389532.4	-	11	1735	c.1671G>T	c.(1669-1671)ccG>ccT	p.P557P	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.P568P|CAMSAP1_ENST00000312405.6_Silent_p.P279P	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	557					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGGGGAACTCCGGGTCAGCCT	0.577																																						dbGAP											0													140.0	153.0	149.0					9																	138714836		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1671G>T	9.37:g.138714836C>A			A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.P568	ENST00000389532.4	37	c.1704	CCDS35176.2	9																																																																																			CAMSAP1	-	NULL	ENSG00000130559		0.577	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	105	0.00	0	C	XM_351857		138714836	138714836	-1	no_errors	ENST00000409386	ensembl	human	known	69_37n	silent	26	50.94	27	SNP	0.000	A
CCDC138	165055	genome.wustl.edu	37	2	109489964	109489964	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr2:109489964C>G	ENST00000295124.4	+	14	1811	c.1751C>G	c.(1750-1752)tCt>tGt	p.S584C	CCDC138_ENST00000412964.2_Intron	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	584										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						CGTACTTGCTCTGTGCTGCTT	0.368																																						dbGAP											0													76.0	78.0	77.0					2																	109489964		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.1751C>G	2.37:g.109489964C>G	ENSP00000295124:p.Ser584Cys		Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Missense_Mutation	SNP	NULL	p.S584C	ENST00000295124.4	37	c.1751	CCDS2080.1	2	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311946	0.60414	.	.	ENSG00000163006	ENST00000295124	T	0.42513	0.97	4.94	4.94	0.65067	.	0.068145	0.64402	D	0.000012	T	0.47358	0.1441	M	0.65975	2.015	0.43688	D	0.996133	P	0.37207	0.587	B	0.38156	0.266	T	0.54951	-0.8216	10	0.66056	D	0.02	-4.6695	18.1469	0.89661	0.0:1.0:0.0:0.0	.	584	Q96M89	CC138_HUMAN	C	584	ENSP00000295124:S584C	ENSP00000295124:S584C	S	+	2	0	CCDC138	108856396	1.000000	0.71417	0.972000	0.41901	0.988000	0.76386	5.574000	0.67424	2.464000	0.83262	0.655000	0.94253	TCT	CCDC138	-	NULL	ENSG00000163006		0.368	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC138	HGNC	protein_coding	OTTHUMT00000253593.1	170	0.00	0	C	NM_144978		109489964	109489964	+1	no_errors	ENST00000295124	ensembl	human	known	69_37n	missense	148	30.19	64	SNP	0.982	G
CCDC47	57003	genome.wustl.edu	37	17	61829358	61829359	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr17:61829358_61829359insT	ENST00000225726.5	-	12	1694_1695	c.1312_1313insA	c.(1312-1314)agafs	p.R438fs	RP11-51F16.8_ENST00000580553.1_Frame_Shift_Ins_p.E34fs|CCDC47_ENST00000582252.1_Frame_Shift_Ins_p.R438fs|CCDC47_ENST00000403162.3_Frame_Shift_Ins_p.R438fs	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	438					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						CTTCTCTGCTCTTTTTTTCTCC	0.46																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.1313dupA	17.37:g.61829365_61829365dupT	ENSP00000225726:p.Arg438fs		B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Frame_Shift_Ins	INS	pfam_DUF1682	p.R438fs	ENST00000225726.5	37	c.1313_1312	CCDS11643.1	17																																																																																			CCDC47	-	pfam_DUF1682	ENSG00000108588		0.460	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC47	HGNC	protein_coding	OTTHUMT00000444016.2	124	0.00	0	-	NM_020198		61829358	61829359	-1	no_errors	ENST00000225726	ensembl	human	known	69_37n	frame_shift_ins	192	13.90	31	INS	1.000:0.998	T
CCDC74A	90557	genome.wustl.edu	37	2	132289293	132289293	+	Missense_Mutation	SNP	T	T	C	rs149647165	byFrequency	TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr2:132289293T>C	ENST00000295171.6	+	4	739	c.601T>C	c.(601-603)Tcc>Ccc	p.S201P	CCDC74A_ENST00000467992.2_Missense_Mutation_p.S303P|CCDC74A_ENST00000409856.3_Missense_Mutation_p.S135P	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	201										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AGCTGACGTCTCCCAGAAGGC	0.582													N|||	1396	0.278754	0.553	0.1787	5008	,	,		12784	0.3452		0.0875	False		,,,				2504	0.1074					dbGAP											0													60.0	102.0	89.0					2																	132289293		1843	4191	6034	-	-	-	SO:0001583	missense	0				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.601T>C	2.37:g.132289293T>C	ENSP00000295171:p.Ser201Pro		Q6P4I5	Missense_Mutation	SNP	NULL	p.S201P	ENST00000295171.6	37	c.601	CCDS2167.1	2	635	0.2907509157509158	166	0.33739837398373984	105	0.2900552486187845	255	0.4458041958041958	109	0.1437994722955145	.	0.001	-3.126559	0.00031	.	.	ENSG00000163040	ENST00000295171;ENST00000409856;ENST00000434330;ENST00000467992	T;T;T;T	0.45668	2.03;2.05;0.89;0.9	1.57	0.658	0.17855	.	0.634264	0.12332	N	0.478305	T	0.00012	0.0000	N	0.00170	-1.935	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42965	-0.9420	9	0.02654	T	1	-0.2433	4.0985	0.10002	0.0:0.5799:0.0:0.4201	.	135;201	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	P	201;135;130;303	ENSP00000295171:S201P;ENSP00000387009:S135P;ENSP00000406839:S130P;ENSP00000444610:S303P	ENSP00000295171:S201P	S	+	1	0	CCDC74A	132005763	0.000000	0.05858	0.037000	0.18230	0.168000	0.22595	-0.493000	0.06459	-0.120000	0.11809	-1.033000	0.02402	TCC	CCDC74A	-	NULL	ENSG00000163040		0.582	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74A	HGNC	protein_coding	OTTHUMT00000254570.2	22	0.00	0	T	NM_138770		132289293	132289293	+1	no_errors	ENST00000295171	ensembl	human	known	69_37n	missense	6	33.33	3	SNP	0.019	C
CCNA2	890	genome.wustl.edu	37	4	122740585	122740585	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr4:122740585A>G	ENST00000274026.5	-	5	1247	c.944T>C	c.(943-945)cTt>cCt	p.L315P		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	315					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						GTATTGGGTAAGAAACTGATT	0.373																																						dbGAP											0													105.0	104.0	104.0					4																	122740585		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.944T>C	4.37:g.122740585A>G	ENSP00000274026:p.Leu315Pro		A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.L315P	ENST00000274026.5	37	c.944	CCDS3723.1	4	.	.	.	.	.	.	.	.	.	.	A	25.7	4.660815	0.88154	.	.	ENSG00000145386	ENST00000274026	T	0.36878	1.23	6.04	6.04	0.98038	Cyclin, C-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.73837	0.3638	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83396	0.0020	10	0.87932	D	0	.	16.5763	0.84648	1.0:0.0:0.0:0.0	.	315	P20248	CCNA2_HUMAN	P	315	ENSP00000274026:L315P	ENSP00000274026:L315P	L	-	2	0	CCNA2	122960035	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.262000	0.95591	2.317000	0.78254	0.459000	0.35465	CTT	CCNA2	-	pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000145386		0.373	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNA2	HGNC	protein_coding	OTTHUMT00000256712.2	134	0.00	0	A	NM_001237		122740585	122740585	-1	no_errors	ENST00000274026	ensembl	human	known	69_37n	missense	59	26.25	21	SNP	1.000	G
CDH1	999	genome.wustl.edu	37	16	68842662	68842662	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr16:68842662delC	ENST00000261769.5	+	5	789	c.598delC	c.(598-600)cccfs	p.P201fs	CDH1_ENST00000422392.2_Frame_Shift_Del_p.P201fs|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	201	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(2)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AGCTGACACACCCCCTGTTGG	0.413			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	2	Unknown(2)	breast(2)											62.0	61.0	61.0					16																	68842662		2198	4300	6498	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.598delC	16.37:g.68842662delC	ENSP00000261769:p.Pro201fs		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P201fs	ENST00000261769.5	37	c.598	CCDS10869.1	16																																																																																			CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000039068		0.413	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	112	0.00	0	C	NM_004360		68842662	68842662	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	frame_shift_del	62	52.21	71	DEL	0.992	-
CDH1	999	genome.wustl.edu	37	16	68842664	68842665	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr16:68842664_68842665CC>AG	ENST00000261769.5	+	5	791_792	c.600_601CC>AG	c.(598-603)ccCCct>ccAGct	p.P201A	CDH1_ENST00000422392.2_Missense_Mutation_p.P201A|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	201	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(2)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CTGACACACCCCCTGTTGGTGT	0.411			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	2	Unknown(2)	breast(2)																																								-	-	-	SO:0001583	missense	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	Exception_encountered	16.37:g.68842664_68842665delinsAG	ENSP00000261769:p.Pro201Ala		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,pfscan_Cadherin|pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P123T|p.P201A	ENST00000261769.5	37	c.367|c.601	CCDS10869.1	16																																																																																			CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin|pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000039068		0.411	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	114	0.00	0	C	NM_004360		68842664|68842665	68842664|68842665	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region|no_errors	ENST00000561751|ENST00000261769	ensembl	human	known	69_37n	missense	59|61	55.07|55.80	76|77	SNP	0.691|1.000	A|G
CERS6	253782	genome.wustl.edu	37	2	169312982	169312982	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr2:169312982C>G	ENST00000305747.6	+	1	611	c.24C>G	c.(22-24)ttC>ttG	p.F8L	CERS6_ENST00000392687.4_Missense_Mutation_p.F8L	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	8					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TAGCCTGGTTCTGGAACGAGA	0.642																																						dbGAP											0													163.0	131.0	142.0					2																	169312982		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"""Homeoboxes / CERS class"""	23826	protein-coding gene	gene with protein product		615336	"""LAG1 longevity assurance homolog 6 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 6"""	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.24C>G	2.37:g.169312982C>G	ENSP00000306579:p.Phe8Leu		Q32M63|Q8N617	Missense_Mutation	SNP	pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeodomain	p.F8L	ENST00000305747.6	37	c.24	CCDS2228.1	2	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305216	0.40795	.	.	ENSG00000172292	ENST00000305747;ENST00000392687	T;T	0.81078	-1.45;-1.45	5.22	2.49	0.30216	.	0.000000	0.85682	D	0.000000	T	0.67850	0.2937	L	0.28694	0.88	0.80722	D	1	B;B	0.23735	0.023;0.09	B;B	0.22386	0.021;0.039	T	0.56757	-0.7926	10	0.30078	T	0.28	-29.3952	10.2372	0.43290	0.0:0.7861:0.0:0.2139	.	8;8	Q32M63;Q6ZMG9	.;CERS6_HUMAN	L	8	ENSP00000306579:F8L;ENSP00000376453:F8L	ENSP00000306579:F8L	F	+	3	2	CERS6	169021228	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	1.825000	0.39081	0.229000	0.21039	-0.350000	0.07774	TTC	CERS6	-	pirsf_Longevity_assurance_LAG1_LAC1	ENSG00000172292		0.642	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERS6	HGNC	protein_coding	OTTHUMT00000255235.2	43	0.00	0	C	NM_203463		169312982	169312982	+1	no_errors	ENST00000305747	ensembl	human	known	69_37n	missense	23	17.86	5	SNP	1.000	G
CTTN	2017	genome.wustl.edu	37	11	70256029	70256029	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr11:70256029G>C	ENST00000301843.8	+	5	460	c.254G>C	c.(253-255)gGa>gCa	p.G85A	CTTN_ENST00000376561.3_Missense_Mutation_p.G85A|CTTN_ENST00000527622.1_3'UTR|CTTN_ENST00000346329.3_Missense_Mutation_p.G85A	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	85					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CATGGCTATGGAGGGAAATTT	0.517																																						dbGAP											0													191.0	187.0	188.0					11																	70256029		2200	4294	6494	-	-	-	SO:0001583	missense	0			AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.254G>C	11.37:g.70256029G>C	ENSP00000301843:p.Gly85Ala		Q8N707|Q96H99	Missense_Mutation	SNP	pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.G85A	ENST00000301843.8	37	c.254	CCDS41680.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.68|18.68	3.676966|3.676966	0.68042|0.68042	.|.	.|.	ENSG00000085733|ENSG00000085733	ENST00000415461|ENST00000346329;ENST00000301843;ENST00000376561	.|T;T;T	.|0.58940	.|0.42;0.35;0.3	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81336|0.81336	0.4801|0.4801	M|M	0.90082|0.90082	3.085|3.085	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.994;1.0	.|D;D;D	.|0.97110	.|1.0;0.983;0.999	D|D	0.85713|0.85713	0.1320|0.1320	5|10	.|0.87932	.|D	.|0	-34.1844|-34.1844	18.5737|18.5737	0.91147|0.91147	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|85;85;85	.|Q96H99;Q14247;Q8N707	.|.;SRC8_HUMAN;.	Q|A	67|85	.|ENSP00000317189:G85A;ENSP00000301843:G85A;ENSP00000365745:G85A	.|ENSP00000301843:G85A	E|G	+|+	1|2	0|0	CTTN|CTTN	69933677|69933677	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.095000|0.095000	0.18619|0.18619	9.491000|9.491000	0.97954|0.97954	2.367000|2.367000	0.80283|0.80283	0.563000|0.563000	0.77884|0.77884	GAG|GGA	CTTN	-	pfam_Hs1_Cortactin,pfscan_Hs1_Cortactin	ENSG00000085733		0.517	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTN	HGNC	protein_coding	OTTHUMT00000259233.2	96	0.00	0	G	NM_138565		70256029	70256029	+1	no_errors	ENST00000301843	ensembl	human	known	69_37n	missense	61	74.48	178	SNP	1.000	C
DUSP6	1848	genome.wustl.edu	37	12	89743172	89743172	+	Silent	SNP	G	G	A			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr12:89743172G>A	ENST00000279488.7	-	3	2236	c.1005C>T	c.(1003-1005)aaC>aaT	p.N335N	DUSP6_ENST00000547291.1_Silent_p.N210N|DUSP6_ENST00000308385.6_Silent_p.N189N|DUSP6_ENST00000547140.1_5'Flank	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	335	Tyrosine-protein phosphatase.				cell differentiation (GO:0030154)|dorsal/ventral pattern formation (GO:0009953)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|regulation of endodermal cell fate specification (GO:0042663)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of heart growth (GO:0060420)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						GACCCATGAAGTTGAAGTTAG	0.488																																					Colon(132;3456 5224)	dbGAP											0													161.0	150.0	154.0					12																	89743172		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3072	protein-coding gene	gene with protein product		602748				8626780, 9205128	Standard	NM_001946		Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.1005C>T	12.37:g.89743172G>A			O75109|Q53Y75|Q9BSH6	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,prints_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.N335	ENST00000279488.7	37	c.1005	CCDS9033.1	12																																																																																			DUSP6	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000139318		0.488	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP6	HGNC	protein_coding	OTTHUMT00000406534.2	104	0.00	0	G	NM_001946, NM_022652		89743172	89743172	-1	no_errors	ENST00000279488	ensembl	human	known	69_37n	silent	42	23.64	13	SNP	1.000	A
DYNC1H1	1778	genome.wustl.edu	37	14	102481649	102481649	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr14:102481649G>A	ENST00000360184.4	+	35	7386	c.7222G>A	c.(7222-7224)Gcc>Acc	p.A2408T		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2408	AAA 2. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GGGGGAGGAGGCCGCTTCCCC	0.617																																						dbGAP											0													35.0	33.0	34.0					14																	102481649		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.7222G>A	14.37:g.102481649G>A	ENSP00000348965:p.Ala2408Thr		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.A2408T	ENST00000360184.4	37	c.7222	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696932	0.30142	.	.	ENSG00000197102	ENST00000360184	T	0.18502	2.21	5.59	5.59	0.84812	.	0.238205	0.43579	D	0.000542	T	0.10252	0.0251	N	0.22421	0.69	0.40821	D	0.983502	B	0.02656	0.0	B	0.01281	0.0	T	0.23619	-1.0183	10	0.13108	T	0.6	.	8.842	0.35148	0.0744:0.0:0.7757:0.1498	.	2408	Q14204	DYHC1_HUMAN	T	2408	ENSP00000348965:A2408T	ENSP00000348965:A2408T	A	+	1	0	DYNC1H1	101551402	1.000000	0.71417	0.998000	0.56505	0.826000	0.46750	2.946000	0.49050	2.648000	0.89879	0.561000	0.74099	GCC	DYNC1H1	-	NULL	ENSG00000197102		0.617	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	42	0.00	0	G	NM_001376		102481649	102481649	+1	no_errors	ENST00000360184	ensembl	human	known	69_37n	missense	45	19.64	11	SNP	1.000	A
EPHA3	2042	genome.wustl.edu	37	3	89448571	89448571	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr3:89448571G>A	ENST00000336596.2	+	7	1760	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q	EPHA3_ENST00000494014.1_Missense_Mutation_p.R512Q|EPHA3_ENST00000452448.2_Missense_Mutation_p.R512Q	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	512	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATCCGAGCCCGAACAGCCGCT	0.463										TSP Lung(6;0.00050)																												dbGAP											0													96.0	92.0	93.0					3																	89448571		2203	4300	6503	-	-	-	SO:0001583	missense	0			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1535G>A	3.37:g.89448571G>A	ENSP00000337451:p.Arg512Gln		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.R512Q	ENST00000336596.2	37	c.1535	CCDS2922.1	3	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025197	0.93518	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.57595	0.39;0.39;0.39	5.53	4.66	0.58398	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68375	0.2994	M	0.63169	1.94	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.80764	0.994;0.992	T	0.68678	-0.5345	9	.	.	.	.	14.2308	0.65890	0.072:0.0:0.928:0.0	.	512;512	P29320;P29320-2	EPHA3_HUMAN;.	Q	512	ENSP00000337451:R512Q;ENSP00000399926:R512Q;ENSP00000419190:R512Q	.	R	+	2	0	EPHA3	89531261	1.000000	0.71417	0.996000	0.52242	0.803000	0.45373	9.869000	0.99810	1.341000	0.45600	0.563000	0.77884	CGA	EPHA3	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000044524		0.463	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	HGNC	protein_coding	OTTHUMT00000352995.1	143	0.00	0	G	NM_005233		89448571	89448571	+1	no_errors	ENST00000336596	ensembl	human	known	69_37n	missense	81	39.10	52	SNP	1.000	A
FANCL	55120	genome.wustl.edu	37	2	58456952	58456952	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr2:58456952T>A	ENST00000233741.4	-	3	249	c.213A>T	c.(211-213)caA>caT	p.Q71H	FANCL_ENST00000402135.3_Missense_Mutation_p.Q71H|FANCL_ENST00000403295.3_Missense_Mutation_p.Q71H|FANCL_ENST00000540646.1_Missense_Mutation_p.Q71H|FANCL_ENST00000403676.1_Intron|FANCL_ENST00000481670.1_5'Flank	NM_018062.3	NP_060532.2	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	71					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|gamete generation (GO:0007276)|protein monoubiquitination (GO:0006513)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						GACTTACCTGTTGTACTATTC	0.289								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP											0													74.0	77.0	76.0					2																	58456952		2201	4294	6495	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001197	CCDS1860.1, CCDS46294.1	2p16.1	2014-09-17	2003-10-14	2003-10-15	ENSG00000115392	ENSG00000115392		"""Zinc fingers, PHD-type"", ""Fanconi anemia, complementation groups"""	20748	protein-coding gene	gene with protein product		608111	"""PHD finger protein 9"""	PHF9			Standard	NM_018062		Approved	FLJ10335, FAAP43, Pog	uc002rzx.4	Q9NW38	OTTHUMG00000129349	ENST00000233741.4:c.213A>T	2.37:g.58456952T>A	ENSP00000233741:p.Gln71His		Q6GU60	Missense_Mutation	SNP	pfam_FancL_WD-rpt_cont_dom	p.Q71H	ENST00000233741.4	37	c.213	CCDS1860.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.47|12.47	1.948633|1.948633	0.34377|0.34377	.|.	.|.	ENSG00000115392|ENSG00000115392	ENST00000403295;ENST00000233741;ENST00000402135;ENST00000540646|ENST00000427708	T;T;T;T|.	0.45276|.	0.9;0.9;0.9;0.9|.	5.34|5.34	-0.0542|-0.0542	0.13815|0.13815	Fanconi anemia complex, subunit FancL, WD-repeat containing domain (1);|.	0.098166|.	0.64402|.	D|.	0.000002|.	T|T	0.33990|0.33990	0.0882|0.0882	L|L	0.47716|0.47716	1.5|1.5	0.30009|0.30009	N|N	0.81536|0.81536	B;P;P|.	0.46277|.	0.124;0.875;0.812|.	B;P;P|.	0.49853|.	0.049;0.49;0.624|.	T|T	0.36040|0.36040	-0.9764|-0.9764	10|5	0.62326|.	D|.	0.03|.	-17.5809|-17.5809	2.8815|2.8815	0.05648|0.05648	0.1178:0.1575:0.1204:0.6043|0.1178:0.1575:0.1204:0.6043	.|.	71;71;71|.	B5MC31;Q9NW38-2;Q9NW38|.	.;.;FANCL_HUMAN|.	H|S	71|71	ENSP00000386097:Q71H;ENSP00000233741:Q71H;ENSP00000385021:Q71H;ENSP00000441431:Q71H|.	ENSP00000233741:Q71H|.	Q|T	-|-	3|1	2|0	FANCL|FANCL	58310456|58310456	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.952000|0.952000	0.60782|0.60782	0.920000|0.920000	0.28705|0.28705	0.039000|0.039000	0.15632|0.15632	-1.162000|-1.162000	0.01777|0.01777	CAA|ACA	FANCL	-	pfam_FancL_WD-rpt_cont_dom	ENSG00000115392		0.289	FANCL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FANCL	HGNC	protein_coding	OTTHUMT00000251497.1	120	0.00	0	T	NM_018062		58456952	58456952	-1	no_errors	ENST00000233741	ensembl	human	known	69_37n	missense	109	24.31	35	SNP	0.883	A
GIGYF1	64599	genome.wustl.edu	37	7	100280053	100280053	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr7:100280053C>T	ENST00000275732.5	-	21	3862	c.2653G>A	c.(2653-2655)Gaa>Aaa	p.E885K	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	885					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AGCTTCTCTTCTTCCTCCGTC	0.612																																						dbGAP											0													65.0	55.0	58.0					7																	100280053		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2653G>A	7.37:g.100280053C>T	ENSP00000275732:p.Glu885Lys		Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.E885K	ENST00000275732.5	37	c.2653	CCDS34708.1	7	.	.	.	.	.	.	.	.	.	.	.	16.40	3.112423	0.56398	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	D	0.87571	-2.27	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.92596	0.7648	M	0.81497	2.545	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.90262	0.4301	10	0.18276	T	0.48	-16.856	15.9105	0.79470	0.0:1.0:0.0:0.0	.	885	O75420	PERQ1_HUMAN	K	604;885	ENSP00000275732:E885K	ENSP00000275732:E885K	E	-	1	0	GIGYF1	100117989	1.000000	0.71417	0.999000	0.59377	0.305000	0.27757	7.651000	0.83577	2.615000	0.88500	0.555000	0.69702	GAA	GIGYF1	-	NULL	ENSG00000146830		0.612	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIGYF1	HGNC	protein_coding	OTTHUMT00000347205.2	18	0.00	0	C	NM_022574		100280053	100280053	-1	no_errors	ENST00000275732	ensembl	human	known	69_37n	missense	8	38.46	5	SNP	1.000	T
GLI2	2736	genome.wustl.edu	37	2	121726426	121726426	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr2:121726426C>G	ENST00000452319.1	+	6	840	c.780C>G	c.(778-780)atC>atG	p.I260M	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.I260M|GLI2_ENST00000314490.11_5'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGGCCTACATCAACAACTCCC	0.652																																						dbGAP											0													72.0	64.0	67.0					2																	121726426		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.780C>G	2.37:g.121726426C>G	ENSP00000390436:p.Ile260Met			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I260M	ENST00000452319.1	37	c.780	CCDS33283.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.15|17.15	3.315002|3.315002	0.60524|0.60524	.|.	.|.	ENSG00000074047|ENSG00000074047	ENST00000452319;ENST00000361492|ENST00000440937;ENST00000360874	T;T|.	0.71341|.	-0.56;-0.56|.	4.91|4.91	3.95|3.95	0.45737|0.45737	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64227|0.64227	0.2579|0.2579	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D|D	0.76494|0.65815	0.999;0.997|0.995	D;D|P	0.79784|0.56612	0.993;0.916|0.802	T|T	0.66654|0.66654	-0.5869|-0.5869	10|8	0.26408|0.87932	T|D	0.33|0	.|.	7.9118|7.9118	0.29796|0.29796	0.1558:0.7149:0.0:0.1293|0.1558:0.7149:0.0:0.1293	.|.	260;260|131	P10070;Q0VGA0|F5H4D9	GLI2_HUMAN;.|.	M|E	260|131;123	ENSP00000390436:I260M;ENSP00000354586:I260M|.	ENSP00000354586:I260M|ENSP00000441454:Q123E	I|Q	+|+	3|1	3|0	GLI2|GLI2	121442896|121442896	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.729000|0.729000	0.41735|0.41735	0.708000|0.708000	0.25719|0.25719	2.557000|2.557000	0.86248|0.86248	0.655000|0.655000	0.94253|0.94253	ATC|CAA	GLI2	-	NULL	ENSG00000074047		0.652	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	24	0.00	0	C	NM_005270		121726426	121726426	+1	no_errors	ENST00000361492	ensembl	human	known	69_37n	missense	15	34.78	8	SNP	1.000	G
GNPTAB	79158	genome.wustl.edu	37	12	102164928	102164928	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr12:102164928delA	ENST00000299314.7	-	8	1041	c.779delT	c.(778-780)ttgfs	p.L260fs	RP11-511H9.3_ENST00000600133.1_RNA|GNPTAB_ENST00000549940.1_Frame_Shift_Del_p.L260fs	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	260					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CTCTGAATACAACTGCAACTA	0.358																																						dbGAP											0													74.0	69.0	71.0					12																	102164928		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.779delT	12.37:g.102164928delA	ENSP00000299314:p.Leu260fs		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Frame_Shift_Del	DEL	pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom	p.L260fs	ENST00000299314.7	37	c.779	CCDS9088.1	12																																																																																			GNPTAB	-	NULL	ENSG00000111670		0.358	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	HGNC	protein_coding	OTTHUMT00000409182.1	181	0.00	0	A			102164928	102164928	-1	no_errors	ENST00000299314	ensembl	human	known	69_37n	frame_shift_del	161	33.33	83	DEL	1.000	-
HOOK2	29911	genome.wustl.edu	37	19	12874242	12874242	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr19:12874242delT	ENST00000397668.3	-	23	2087	c.2014delA	c.(2014-2016)atgfs	p.M672fs	HOOK2_ENST00000264827.5_Frame_Shift_Del_p.M670fs|HOOK2_ENST00000589965.1_5'Flank	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	672	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CNTRL.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						TGCAAGGCCATGCCCTTCAGG	0.622																																						dbGAP											0													81.0	89.0	86.0					19																	12874242		2080	4203	6283	-	-	-	SO:0001589	frameshift_variant	0			AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.2014delA	19.37:g.12874242delT	ENSP00000380785:p.Met672fs		O60562	Frame_Shift_Del	DEL	pfam_HOOK,superfamily_UBA-like	p.M672fs	ENST00000397668.3	37	c.2014	CCDS42508.1	19																																																																																			HOOK2	-	pfam_HOOK	ENSG00000095066		0.622	HOOK2-002	KNOWN	basic|CCDS	protein_coding	HOOK2	HGNC	protein_coding	OTTHUMT00000451008.1	84	0.00	0	T	NM_013312		12874242	12874242	-1	no_errors	ENST00000397668	ensembl	human	known	69_37n	frame_shift_del	29	67.71	65	DEL	0.993	-
IL11RA	3590	genome.wustl.edu	37	9	34655616	34655616	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr9:34655616C>T	ENST00000555003.1	+	3	1471	c.115C>T	c.(115-117)Cag>Tag	p.Q39*	IL11RA_ENST00000478802.2_3'UTR|IL11RA_ENST00000318041.9_Nonsense_Mutation_p.Q39*|GALT_ENST00000556278.1_Nonsense_Mutation_p.Q183*|IL11RA_ENST00000441545.2_Nonsense_Mutation_p.Q39*|IL11RA_ENST00000378817.4_Nonsense_Mutation_p.Q39*|IL11RA_ENST00000602473.1_Nonsense_Mutation_p.Q39*			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	39	Ig-like C2-type.				developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CCAGTATGGGCAGCCAGGCAG	0.547																																						dbGAP											0													99.0	74.0	82.0					9																	34655616		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.115C>T	9.37:g.34655616C>T	ENSP00000450565:p.Gln39*		Q16542|Q5VZ80|Q7KYJ7	Nonsense_Mutation	SNP	superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q39*	ENST00000555003.1	37	c.115	CCDS6567.1	9	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829141	0.90955	.	.	ENSG00000258728;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070	ENST00000556278;ENST00000555003;ENST00000441545;ENST00000556792;ENST00000378817;ENST00000318041;ENST00000556531;ENST00000555981	.	.	.	5.11	5.11	0.69529	.	0.423942	0.28442	N	0.015331	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-14.2713	14.0351	0.64640	0.0:1.0:0.0:0.0	.	.	.	.	X	183;39;39;39;39;39;39;39	.	ENSP00000326500:Q39X	Q	+	1	0	RP11-195F19.29;IL11RA	34645616	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	2.319000	0.43788	2.381000	0.81170	0.561000	0.74099	CAG	IL11RA	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000137070		0.547	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IL11RA	HGNC	protein_coding	OTTHUMT00000410625.1	41	0.00	0	C	NM_001142784		34655616	34655616	+1	no_errors	ENST00000318041	ensembl	human	known	69_37n	nonsense	21	43.24	16	SNP	1.000	T
KANSL1	284058	genome.wustl.edu	37	17	44117113	44117113	+	Frame_Shift_Del	DEL	G	G	-	rs376233499		TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr17:44117113delG	ENST00000262419.6	-	8	2628	c.2158delC	c.(2158-2160)cgtfs	p.R720fs	KANSL1_ENST00000575318.1_Frame_Shift_Del_p.R720fs|KANSL1_ENST00000432791.1_Frame_Shift_Del_p.R720fs|KANSL1_ENST00000393476.3_Frame_Shift_Del_p.R77fs|KANSL1_ENST00000572904.1_Frame_Shift_Del_p.R720fs|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.R720fs	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	720					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CTGTCCTTACGAGCTGAATCT	0.493																																						dbGAP											0													109.0	101.0	104.0					17																	44117113		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2158delC	17.37:g.44117113delG	ENSP00000262419:p.Arg720fs		A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Frame_Shift_Del	DEL	NULL	p.R720fs	ENST00000262419.6	37	c.2158	CCDS11503.1	17																																																																																			KANSL1	-	NULL	ENSG00000120071		0.493	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KANSL1	HGNC	protein_coding	OTTHUMT00000440274.1	123	0.00	0	G	NM_015443		44117113	44117113	-1	no_errors	ENST00000262419	ensembl	human	known	69_37n	frame_shift_del	115	53.55	151	DEL	0.996	-
KIAA0430	9665	genome.wustl.edu	37	16	15696497	15696498	+	Intron	INS	-	-	C	rs370453498|rs546564067|rs528582430	byFrequency	TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr16:15696497_15696498insC	ENST00000396368.3	-	23	4620				KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000548025.1_Intron|KIAA0430_ENST00000602337.1_Intron|KIAA0430_ENST00000344181.3_Frame_Shift_Ins_p.P1108fs|KIAA0430_ENST00000547936.1_Intron|KIAA0430_ENST00000551742.1_Intron	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430						double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						gaaggaagaggagaaagaaAAG	0.431																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.4414-437->G	16.37:g.15696497_15696498insC			A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Frame_Shift_Ins	INS	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.P1107fs	ENST00000396368.3	37	c.3322_3321	CCDS10562.2	16																																																																																			KIAA0430	-	NULL	ENSG00000166783		0.431	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	14	0.00	0	-	NM_014647		15696497	15696498	-1	no_errors	ENST00000344181	ensembl	human	known	69_37n	frame_shift_ins	12	47.83	11	INS	0.001:0.000	C
KRT2	3849	genome.wustl.edu	37	12	53040550	53040550	+	Silent	SNP	G	G	T			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr12:53040550G>T	ENST00000309680.3	-	7	1464	c.1443C>A	c.(1441-1443)cgC>cgA	p.R481R		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	481	Coil 2.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CCAGCAGTTTGCGGTAGGTGG	0.637																																						dbGAP											0													97.0	87.0	90.0					12																	53040550		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1443C>A	12.37:g.53040550G>T			Q4VAQ2	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.R481	ENST00000309680.3	37	c.1443	CCDS8835.1	12																																																																																			KRT2	-	pfam_F	ENSG00000172867		0.637	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT2	HGNC	protein_coding	OTTHUMT00000405704.1	246	0.00	0	G	NM_000423		53040550	53040550	-1	no_errors	ENST00000309680	ensembl	human	known	69_37n	silent	295	12.98	44	SNP	0.886	T
KTN1	3895	genome.wustl.edu	37	14	56130713	56130713	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr14:56130713C>T	ENST00000395314.3	+	33	3199	c.3131C>T	c.(3130-3132)gCa>gTa	p.A1044V	KTN1_ENST00000395308.1_Missense_Mutation_p.A1021V|KTN1_ENST00000555573.1_Missense_Mutation_p.A49V|KTN1_ENST00000413890.2_Missense_Mutation_p.A1021V|KTN1_ENST00000395311.1_Missense_Mutation_p.A1021V|KTN1_ENST00000438792.2_Intron|KTN1_ENST00000416613.1_Missense_Mutation_p.A1044V|KTN1_ENST00000395309.3_Missense_Mutation_p.A1044V|KTN1_ENST00000554507.1_Intron	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1044					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GAAGCATTGGCATCAACTGAA	0.363			T	RET	papillary thryoid																																	dbGAP		Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													83.0	77.0	79.0					14																	56130713		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.3131C>T	14.37:g.56130713C>T	ENSP00000378725:p.Ala1044Val		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	NULL	p.A1044V	ENST00000395314.3	37	c.3131	CCDS41957.1	14	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018492	0.93404	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613;ENST00000553624;ENST00000555573	T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.4	5.4	0.78164	.	0.000000	0.56097	D	0.000034	T	0.46776	0.1410	M	0.71036	2.16	0.54753	D	0.999983	D;D;P;P	0.63880	0.993;0.979;0.84;0.798	P;P;P;B	0.51193	0.662;0.527;0.513;0.409	T	0.37407	-0.9707	10	0.37606	T	0.19	-6.536	19.5415	0.95275	0.0:1.0:0.0:0.0	.	49;1044;1021;1044	B7Z6P3;B4DZ88;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	V	1021;1044;1044;1021;1021;1044;5;49	ENSP00000394992:A1021V;ENSP00000378720:A1044V;ENSP00000378725:A1044V;ENSP00000378719:A1021V;ENSP00000378722:A1021V;ENSP00000388807:A1044V;ENSP00000451698:A49V	ENSP00000378719:A1021V	A	+	2	0	KTN1	55200466	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.062000	0.76706	2.695000	0.91970	0.460000	0.39030	GCA	KTN1	-	NULL	ENSG00000126777		0.363	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2	151	0.00	0	C			56130713	56130713	+1	no_errors	ENST00000395309	ensembl	human	known	69_37n	missense	105	33.54	53	SNP	1.000	T
LEPREL1	55214	genome.wustl.edu	37	3	189705453	189705453	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr3:189705453C>T	ENST00000319332.5	-	5	1158	c.961G>A	c.(961-963)Gag>Aag	p.E321K	LEPREL1_ENST00000427335.2_Missense_Mutation_p.E140K	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	321					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTCACATACTCACCAACTGAA	0.458																																						dbGAP											0													99.0	95.0	96.0					3																	189705453		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.961G>A	3.37:g.189705453C>T	ENSP00000316881:p.Glu321Lys		B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.E321K	ENST00000319332.5	37	c.961	CCDS3294.1	3	.	.	.	.	.	.	.	.	.	.	C	14.71	2.618143	0.46736	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	T;T	0.63096	-0.02;-0.02	6.03	4.98	0.66077	Tetratricopeptide-like helical (1);	0.401214	0.30830	N	0.008782	T	0.46229	0.1382	N	0.20685	0.6	0.33713	D	0.616035	B	0.13145	0.007	B	0.08055	0.003	T	0.49597	-0.8923	9	.	.	.	-16.0124	15.3419	0.74303	0.0:0.9224:0.0:0.0776	.	321	Q8IVL5	P3H2_HUMAN	K	321;140	ENSP00000316881:E321K;ENSP00000408947:E140K	.	E	-	1	0	LEPREL1	191188147	0.753000	0.28349	1.000000	0.80357	0.821000	0.46438	1.682000	0.37628	2.886000	0.99085	0.644000	0.83932	GAG	LEPREL1	-	NULL	ENSG00000090530		0.458	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL1	HGNC	protein_coding	OTTHUMT00000343855.1	122	0.00	0	C	NM_018192		189705453	189705453	-1	no_errors	ENST00000319332	ensembl	human	known	69_37n	missense	126	35.71	70	SNP	0.935	T
MCM3AP	8888	genome.wustl.edu	37	21	47692480	47692480	+	Silent	SNP	G	G	A			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr21:47692480G>A	ENST00000397708.1	-	9	2714	c.2460C>T	c.(2458-2460)atC>atT	p.I820I	MCM3AP_ENST00000291688.1_Silent_p.I820I			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	820	SAC3 homology.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TTCACCTTAGGATGTCTCCCT	0.488																																						dbGAP											0													134.0	119.0	124.0					21																	47692480		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2460C>T	21.37:g.47692480G>A			C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.I820	ENST00000397708.1	37	c.2460	CCDS13734.1	21																																																																																			MCM3AP	-	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	ENSG00000160294		0.488	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	HGNC	protein_coding	OTTHUMT00000207254.1	92	0.00	0	G	NM_003906		47692480	47692480	-1	no_errors	ENST00000291688	ensembl	human	known	69_37n	silent	27	48.08	25	SNP	0.997	A
MPP3	4356	genome.wustl.edu	37	17	41888280	41888280	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr17:41888280G>T	ENST00000398389.4	-	18	1518	c.1353C>A	c.(1351-1353)ttC>ttA	p.F451L	MPP3_ENST00000398393.1_Missense_Mutation_p.F476L	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	451	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CATGTTCCAGGAACCTAAAAC	0.463																																						dbGAP											0													89.0	85.0	86.0					17																	41888280		1876	4098	5974	-	-	-	SO:0001583	missense	0				CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.1353C>A	17.37:g.41888280G>T	ENSP00000381425:p.Phe451Leu		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.F451L	ENST00000398389.4	37	c.1353	CCDS42344.1	17	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730127	0.48939	.	.	ENSG00000161647	ENST00000398393;ENST00000398389	T;T	0.26660	1.72;1.72	5.58	4.59	0.56863	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.050061	0.85682	D	0.000000	T	0.42494	0.1205	L	0.59436	1.845	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.14531	-1.0469	10	0.54805	T	0.06	.	8.1632	0.31211	0.1722:0.0:0.8278:0.0	.	451;476	Q13368;D3DX46	MPP3_HUMAN;.	L	476;451	ENSP00000381430:F476L;ENSP00000381425:F451L	ENSP00000381425:F451L	F	-	3	2	MPP3	39243806	1.000000	0.71417	1.000000	0.80357	0.260000	0.26232	0.851000	0.27751	2.906000	0.99361	0.655000	0.94253	TTC	MPP3	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin	ENSG00000161647		0.463	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP3	HGNC	protein_coding	OTTHUMT00000258371.1	187	0.00	0	G	NM_001932		41888280	41888280	-1	no_errors	ENST00000398389	ensembl	human	known	69_37n	missense	558	12.81	82	SNP	1.000	T
MSL3	10943	genome.wustl.edu	37	X	11783719	11783719	+	Silent	SNP	C	C	T			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chrX:11783719C>T	ENST00000312196.4	+	9	1147	c.1042C>T	c.(1042-1044)Ctg>Ttg	p.L348L	MSL3_ENST00000398527.2_Silent_p.L336L|MSL3_ENST00000337339.2_Silent_p.L348L|MSL3_ENST00000361672.2_Silent_p.L199L|MSL3_ENST00000380693.3_Silent_p.L182L	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	348	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Required for the histone acetyltransferase activity of the MSL complex.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						ATTGCAGTCTCTGAGGCGGTC	0.612																																						dbGAP											0													104.0	104.0	104.0					X																	11783719		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1042C>T	X.37:g.11783719C>T			A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Silent	SNP	pfam_MRG,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.L348	ENST00000312196.4	37	c.1042	CCDS14147.1	X																																																																																			MSL3	-	pfam_MRG	ENSG00000005302		0.612	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	MSL3	HGNC	protein_coding	OTTHUMT00000055757.1	166	0.00	0	C	NM_006800		11783719	11783719	+1	no_errors	ENST00000312196	ensembl	human	known	69_37n	silent	67	43.33	52	SNP	0.999	T
MUC4	4585	genome.wustl.edu	37	3	195492266	195492266	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr3:195492266C>T	ENST00000346145.4	-	8	1004	c.965G>A	c.(964-966)cGt>cAt	p.R322H	MUC4_ENST00000349607.4_Missense_Mutation_p.R271H|MUC4_ENST00000463781.3_Missense_Mutation_p.R4558H|MUC4_ENST00000475231.1_Missense_Mutation_p.R4506H	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1315					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCACTCGAGACGGTAGTTGGG	0.652																																						dbGAP											0													45.0	42.0	43.0					3																	195492266		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.965G>A	3.37:g.195492266C>T	ENSP00000304207:p.Arg322His		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.R4558H	ENST00000346145.4	37	c.13673	CCDS3310.1	3	.	.	.	.	.	.	.	.	.	.	.	12.67	2.008048	0.35415	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.41065	1.01;1.36;1.3;1.3	4.15	3.26	0.37387	AMOP (2);	0.208574	0.21556	U	0.072656	T	0.61476	0.2350	M	0.73598	2.24	0.30861	N	0.73352	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.75484	0.986;0.971;0.955;0.955;0.938;0.938;0.981	T	0.64947	-0.6287	10	0.59425	D	0.04	-0.2742	11.3015	0.49309	0.0:0.9096:0.0:0.0904	.	4430;1315;271;322;4558;4506;1263	E7ESK3;Q99102;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;MUC4_HUMAN;.;.;.;.;.	H	271;322;4558;4506;1284	ENSP00000338109:R271H;ENSP00000304207:R322H;ENSP00000417498:R4558H;ENSP00000420243:R4506H	ENSP00000304207:R322H	R	-	2	0	MUC4	196977937	0.955000	0.32602	0.992000	0.48379	0.138000	0.21146	2.284000	0.43478	0.942000	0.37525	0.461000	0.40582	CGT	MUC4	-	pfam_AMOP,smart_AMOP,pfscan_AMOP	ENSG00000145113		0.652	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000341862.1	15	0.00	0	C	NM_018406		195492266	195492266	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	12	42.86	9	SNP	0.997	T
NFAT5	10725	genome.wustl.edu	37	16	69726520	69726521	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr16:69726520_69726521insA	ENST00000354436.2	+	12	3056_3057	c.2738_2739insA	c.(2737-2742)tcagagfs	p.E914fs	NFAT5_ENST00000349945.1_Frame_Shift_Ins_p.E838fs|NFAT5_ENST00000393742.2_Frame_Shift_Ins_p.E838fs|NFAT5_ENST00000432919.1_Frame_Shift_Ins_p.E932fs|NFAT5_ENST00000566899.1_Frame_Shift_Ins_p.E838fs|NFAT5_ENST00000567239.1_Frame_Shift_Ins_p.E931fs	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	914					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CAGATTCAGTCAGAGTTATTCC	0.495																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2739dupA	16.37:g.69726521_69726521dupA	ENSP00000346420:p.Glu914fs		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Frame_Shift_Ins	INS	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.E932fs	ENST00000354436.2	37	c.2792_2793	CCDS10881.1	16																																																																																			NFAT5	-	NULL	ENSG00000102908		0.495	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	HGNC	protein_coding	OTTHUMT00000268952.2	235	0.00	0	-	NM_138714		69726520	69726521	+1	no_errors	ENST00000432919	ensembl	human	known	69_37n	frame_shift_ins	80	58.97	115	INS	0.998:0.206	A
NOA1	84273	genome.wustl.edu	37	4	57842681	57842681	+	Silent	SNP	C	C	G			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr4:57842681C>G	ENST00000264230.4	-	1	2308	c.1071G>C	c.(1069-1071)acG>acC	p.T357T	POLR2B_ENST00000381227.1_5'Flank|POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000441246.2_5'Flank|POLR2B_ENST00000431623.2_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	357	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										ACTCCAGGAGCGTGTTAAAGA	0.597																																						dbGAP											0													75.0	77.0	76.0					4																	57842681		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1071G>C	4.37:g.57842681C>G			Q8N7L6|Q9BSQ9	Silent	SNP	NULL	p.T357	ENST00000264230.4	37	c.1071	CCDS3510.1	4																																																																																			NOA1	-	NULL	ENSG00000084092		0.597	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOA1	HGNC	protein_coding	OTTHUMT00000250694.2	43	0.00	0	C	NM_032313		57842681	57842681	-1	no_errors	ENST00000264230	ensembl	human	known	69_37n	silent	17	45.16	14	SNP	0.982	G
OR2T34	127068	genome.wustl.edu	37	1	248737930	248737930	+	Silent	SNP	G	G	A			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr1:248737930G>A	ENST00000328782.2	-	1	150	c.129C>T	c.(127-129)gcC>gcT	p.A43A		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCCAGTGAGGGCCATCAAGA	0.552																																						dbGAP											0													22.0	31.0	28.0					1																	248737930		2087	4248	6335	-	-	-	SO:0001819	synonymous_variant	0			BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.129C>T	1.37:g.248737930G>A			B2RNJ8|Q6IEY5|Q96R31	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A43	ENST00000328782.2	37	c.129	CCDS31120.1	1																																																																																			OR2T34	-	pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn	ENSG00000183310		0.552	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T34	HGNC	protein_coding	OTTHUMT00000097138.1	385	0.00	0	G	NM_001001821		248737930	248737930	-1	no_errors	ENST00000328782	ensembl	human	known	69_37n	silent	470	16.07	90	SNP	0.020	A
OTOP1	133060	genome.wustl.edu	37	4	4199564	4199564	+	Silent	SNP	G	G	A			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr4:4199564G>A	ENST00000296358.4	-	5	1021	c.997C>T	c.(997-999)Ctg>Ttg	p.L333L		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	333					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATATGAATCAGGTATACCACC	0.577																																						dbGAP											0													49.0	47.0	48.0					4																	4199564		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.997C>T	4.37:g.4199564G>A			A1L476	Silent	SNP	pfam_Otopetrin	p.L333	ENST00000296358.4	37	c.997	CCDS3372.1	4																																																																																			OTOP1	-	pfam_Otopetrin	ENSG00000163982		0.577	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP1	HGNC	protein_coding	OTTHUMT00000206661.2	45	0.00	0	G	NM_177998		4199564	4199564	-1	no_errors	ENST00000296358	ensembl	human	known	69_37n	silent	49	30.00	21	SNP	0.841	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	186	0.53	1	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	162	36.96	95	SNP	1.000	G
PRR3	80742	genome.wustl.edu	37	6	30529872	30529872	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr6:30529872C>T	ENST00000376560.3	+	3	890	c.431C>T	c.(430-432)cCg>cTg	p.P144L	PRR3_ENST00000498336.1_3'UTR|PRR3_ENST00000376557.3_Missense_Mutation_p.P123L	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3	144							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			lung(1)|ovary(1)	2						AATACCTGCCCGCCCAAGGAT	0.512																																						dbGAP											0													99.0	103.0	102.0					6																	30529872		1188	2503	3691	-	-	-	SO:0001583	missense	0			AK074531	CCDS43440.1, CCDS43441.1	6p21.32	2013-01-18	2004-05-27		ENSG00000204576	ENSG00000204576		"""Zinc fingers, CCCH-type domain containing"""	21149	protein-coding gene	gene with protein product			"""proline-rich polpeptide 3"""				Standard	NM_025263		Approved	CAT56, Em:AB014077.1, Em:AB023052.2	uc003nqi.2	P79522	OTTHUMG00000031037	ENST00000376560.3:c.431C>T	6.37:g.30529872C>T	ENSP00000365744:p.Pro144Leu		A1A4H4|Q5RJB5|Q5STN6	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.P144L	ENST00000376560.3	37	c.431	CCDS43440.1	6	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246821	0.59103	.	.	ENSG00000204576	ENST00000376560;ENST00000376555;ENST00000376557	T;T	0.54866	0.55;0.62	5.06	3.2	0.36748	.	0.000000	0.44097	D	0.000483	T	0.16041	0.0386	N	0.14661	0.345	0.40301	D	0.978609	B;B	0.25850	0.086;0.136	B;B	0.15052	0.012;0.006	T	0.09796	-1.0658	10	0.87932	D	0	-0.9562	6.312	0.21171	0.0:0.6976:0.2013:0.1011	.	123;144	P79522-2;P79522	.;PRR3_HUMAN	L	144;209;123	ENSP00000365744:P144L;ENSP00000365740:P123L	ENSP00000365738:P209L	P	+	2	0	PRR3	30637851	0.930000	0.31532	0.982000	0.44146	0.978000	0.69477	1.842000	0.39250	1.357000	0.45904	0.655000	0.94253	CCG	PRR3	-	NULL	ENSG00000204576		0.512	PRR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR3	HGNC	protein_coding	OTTHUMT00000076033.2	132	0.00	0	C	NM_025263		30529872	30529872	+1	no_errors	ENST00000376560	ensembl	human	known	69_37n	missense	89	34.56	47	SNP	0.950	T
QSER1	79832	genome.wustl.edu	37	11	32996910	32996911	+	Intron	INS	-	-	A			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr11:32996910_32996911insA	ENST00000399302.2	+	12	5402				QSER1_ENST00000527788.1_Intron	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1											breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CTCATTTACTTAAAAAAAATGT	0.292																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.5067+21->A	11.37:g.32996918_32996918dupA			Q6ZU30|Q6ZUR5	Frame_Shift_Ins	INS	NULL	p.M720fs	ENST00000399302.2	37	c.2150_2151	CCDS41631.1	11																																																																																			QSER1	-	NULL	ENSG00000060749		0.292	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	52	0.00	0	-	NM_024774		32996910	32996911	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000524678	ensembl	human	putative	69_37n	frame_shift_ins	88	17.76	19	INS	0.003:0.000	A
RHBG	57127	genome.wustl.edu	37	1	156347927	156347928	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr1:156347927_156347928insG	ENST00000368249.1	+	3	559_560	c.521_522insG	c.(520-525)ctggggfs	p.LG174fs	RHBG_ENST00000451864.2_Frame_Shift_Ins_p.LG105fs|RHBG_ENST00000368246.2_Frame_Shift_Ins_p.LG174fs|RHBG_ENST00000400992.2_Frame_Shift_Ins_p.LG105fs|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000255013.3_Frame_Shift_Ins_p.LG105fs	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	174					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTTCATCTCCTGGGGGTGAGAG	0.658																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"""Solute carriers"""	14572	protein-coding gene	gene with protein product		607079	"""Rhesus blood group, B glycoprotein"""			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.526dupG	1.37:g.156347932_156347932dupG	ENSP00000357232:p.Leu174fs		A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Frame_Shift_Ins	INS	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.V176fs	ENST00000368249.1	37	c.521_522		1																																																																																			RHBG	-	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like	ENSG00000132677		0.658	RHBG-001	NOVEL	basic	protein_coding	RHBG	HGNC	protein_coding	OTTHUMT00000060589.2	24	0.00	0	-	NM_001256395		156347927	156347928	+1	no_errors	ENST00000368246	ensembl	human	known	69_37n	frame_shift_ins	12	14.29	2	INS	1.000:0.995	G
RYR1	6261	genome.wustl.edu	37	19	39025994	39025994	+	Silent	SNP	C	C	T			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr19:39025994C>T	ENST00000359596.3	+	81	11478	c.11478C>T	c.(11476-11478)ggC>ggT	p.G3826G	AC067969.2_ENST00000595853.1_RNA|RYR1_ENST00000355481.4_Silent_p.G3821G|RYR1_ENST00000360985.3_Silent_p.G3826G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3826					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGGAAGTTGGCTTCTTCCAGA	0.522																																						dbGAP											0													147.0	126.0	133.0					19																	39025994		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11478C>T	19.37:g.39025994C>T			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.G3826	ENST00000359596.3	37	c.11478	CCDS33011.1	19																																																																																			RYR1	-	NULL	ENSG00000196218		0.522	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	211	0.00	0	C			39025994	39025994	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	silent	195	28.83	79	SNP	0.999	T
SHC1	6464	genome.wustl.edu	37	1	154938889	154938890	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr1:154938889_154938890insC	ENST00000368445.5	-	8	1301_1302	c.1087_1088insG	c.(1087-1089)gtgfs	p.V363fs	SHC1_ENST00000490667.1_5'Flank|SHC1_ENST00000368449.4_Frame_Shift_Ins_p.V134fs|SHC1_ENST00000448116.2_Frame_Shift_Ins_p.V363fs|PYGO2_ENST00000483463.1_5'Flank|SHC1_ENST00000606391.1_Frame_Shift_Ins_p.V164fs|SHC1_ENST00000368453.4_Frame_Shift_Ins_p.V253fs|SHC1_ENST00000368450.1_Frame_Shift_Ins_p.V253fs	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	363	CH1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CATGTCTACCACCCCCCCCAAG	0.604																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)	dbGAP											0									,,,,	138,4094		4,130,1982					,,,,	4.8	1.0			23	132,8088		1,130,3979	no	frameshift,frameshift,frameshift,frameshift,frameshift	SHC1	NM_183001.4,NM_003029.4,NM_001202859.1,NM_001130041.1,NM_001130040.1	,,,,	5,260,5961	A1A1,A1R,RR		1.6058,3.2609,2.1683	,,,,	,,,,		270,12182				-	-	-	SO:0001589	frameshift_variant	0			U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.1088dupG	1.37:g.154938897_154938897dupC	ENSP00000357430:p.Val363fs		B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Frame_Shift_Ins	INS	pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2	p.V363fs	ENST00000368445.5	37	c.1088_1087	CCDS30881.1	1																																																																																			SHC1	-	NULL	ENSG00000160691		0.604	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHC1	HGNC	protein_coding	OTTHUMT00000090781.2	15	0.00	0	-	NM_183001		154938889	154938890	-1	no_errors	ENST00000448116	ensembl	human	known	69_37n	frame_shift_ins	13	13.33	2	INS	0.985:0.930	C
SCCPDH	51097	genome.wustl.edu	37	1	246930542	246930542	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr1:246930542G>T	ENST00000366510.3	+	12	1606	c.1230G>T	c.(1228-1230)ttG>ttT	p.L410F		NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)	410						lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		AAACAAAGTTGATTGACAGAC	0.413																																						dbGAP											0													109.0	103.0	105.0					1																	246930542		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.1230G>T	1.37:g.246930542G>T	ENSP00000355467:p.Leu410Phe		Q8TAR0|Q9Y363	Missense_Mutation	SNP	pfam_Saccharopine_DH/HSpermid_syn	p.L410F	ENST00000366510.3	37	c.1230	CCDS31084.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357397	0.82243	.	.	ENSG00000143653	ENST00000366510;ENST00000366509	T	0.39787	1.06	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.69842	0.3156	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69566	-0.5111	10	0.48119	T	0.1	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	410	Q8NBX0	SCPDL_HUMAN	F	410;222	ENSP00000355467:L410F	ENSP00000355466:L222F	L	+	3	2	SCCPDH	244997165	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.918000	0.48829	2.793000	0.96121	0.655000	0.94253	TTG	SCCPDH	-	pfam_Saccharopine_DH/HSpermid_syn	ENSG00000143653		0.413	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCCPDH	HGNC	protein_coding	OTTHUMT00000096902.2	51	0.00	0	G	NM_016002		246930542	246930542	+1	no_errors	ENST00000366510	ensembl	human	known	69_37n	missense	75	17.58	16	SNP	1.000	T
SIAE	54414	genome.wustl.edu	37	11	124518025	124518025	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr11:124518025G>C	ENST00000263593.3	-	6	941	c.769C>G	c.(769-771)Ctc>Gtc	p.L257V	SIAE_ENST00000545756.1_Missense_Mutation_p.L222V			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	257					carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		GCATTCCAGAGAACAGAGTGC	0.438																																						dbGAP											0													228.0	188.0	201.0					11																	124518025		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"""sialic acid-specific acetylesterase II"""	610079	"""Ysg2 homolog (mouse)"""	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.769C>G	11.37:g.124518025G>C	ENSP00000263593:p.Leu257Val		B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Missense_Mutation	SNP	pfam_DUF303_acetylest,superfamily_Esterase_SGNH_hydro-type	p.L257V	ENST00000263593.3	37	c.769	CCDS8449.1	11	.	.	.	.	.	.	.	.	.	.	G	15.03	2.710812	0.48517	.	.	ENSG00000110013	ENST00000263593;ENST00000545756	D;D	0.96587	-4.06;-4.06	5.03	4.11	0.48088	Esterase, SGNH hydrolase-type (1);Domain of unknown function DUF303, acetylesterase putative (1);	0.071128	0.56097	N	0.000021	D	0.98163	0.9393	M	0.93375	3.41	0.43613	D	0.995986	P	0.40909	0.732	P	0.53988	0.739	D	0.98903	1.0777	10	0.66056	D	0.02	-11.5167	14.7954	0.69873	0.0:0.1453:0.8547:0.0	.	257	Q9HAT2	SIAE_HUMAN	V	257;222	ENSP00000263593:L257V;ENSP00000437877:L222V	ENSP00000263593:L257V	L	-	1	0	SIAE	124023235	0.999000	0.42202	0.998000	0.56505	0.294000	0.27393	2.766000	0.47629	1.224000	0.43551	0.655000	0.94253	CTC	SIAE	-	pfam_DUF303_acetylest,superfamily_Esterase_SGNH_hydro-type	ENSG00000110013		0.438	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIAE	HGNC	protein_coding	OTTHUMT00000387070.1	151	0.00	0	G	NM_170601		124518025	124518025	-1	no_errors	ENST00000263593	ensembl	human	known	69_37n	missense	49	64.75	90	SNP	1.000	C
SLC13A1	6561	genome.wustl.edu	37	7	122757567	122757567	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr7:122757567A>T	ENST00000194130.2	-	14	1647	c.1608T>A	c.(1606-1608)aaT>aaA	p.N536K	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	536					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	AGACAATAGCATTGGGTGGAT	0.393																																						dbGAP											0													140.0	130.0	133.0					7																	122757567		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1608T>A	7.37:g.122757567A>T	ENSP00000194130:p.Asn536Lys		Q9H5Z0	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.N536K	ENST00000194130.2	37	c.1608	CCDS5786.1	7	.	.	.	.	.	.	.	.	.	.	A	19.09	3.759997	0.69763	.	.	ENSG00000081800	ENST00000194130	T	0.03301	3.98	5.32	1.6	0.23607	.	0.000000	0.85682	D	0.000000	T	0.27134	0.0665	H	0.98295	4.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.11155	-1.0599	10	0.87932	D	0	-25.7291	8.741	0.34558	0.7794:0.0:0.2206:0.0	.	536;536	A4D0X1;Q9BZW2	.;S13A1_HUMAN	K	536	ENSP00000194130:N536K	ENSP00000194130:N536K	N	-	3	2	SLC13A1	122544803	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	1.623000	0.37008	0.095000	0.17434	-0.256000	0.11100	AAT	SLC13A1	-	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	ENSG00000081800		0.393	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A1	HGNC	protein_coding	OTTHUMT00000347404.1	173	0.00	0	A	NM_022444		122757567	122757567	-1	no_errors	ENST00000194130	ensembl	human	known	69_37n	missense	178	16.82	36	SNP	1.000	T
SLC38A4	55089	genome.wustl.edu	37	12	47173756	47173756	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr12:47173756A>G	ENST00000447411.1	-	7	757	c.551T>C	c.(550-552)tTc>tCc	p.F184S	SLC38A4_ENST00000266579.4_Missense_Mutation_p.F184S	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	184					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					AAGTCCCATGAATGCTCTGAT	0.378																																						dbGAP											0													174.0	146.0	156.0					12																	47173756		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.551T>C	12.37:g.47173756A>G	ENSP00000389843:p.Phe184Ser		A8K553	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.F184S	ENST00000447411.1	37	c.551	CCDS8750.1	12	.	.	.	.	.	.	.	.	.	.	A	24.5	4.533433	0.85812	.	.	ENSG00000139209	ENST00000395426;ENST00000447411;ENST00000266579;ENST00000547477;ENST00000546940	T;T;T;T	0.02579	4.24;4.24;4.24;4.24	5.58	5.58	0.84498	.	0.099976	0.64402	D	0.000001	T	0.10423	0.0255	M	0.66939	2.045	0.80722	D	1	P	0.42296	0.775	P	0.51974	0.686	T	0.00710	-1.1599	10	0.51188	T	0.08	-15.9646	16.0502	0.80755	1.0:0.0:0.0:0.0	.	184	Q969I6	S38A4_HUMAN	S	184	ENSP00000389843:F184S;ENSP00000266579:F184S;ENSP00000450071:F184S;ENSP00000448543:F184S	ENSP00000266579:F184S	F	-	2	0	SLC38A4	45460023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.250000	0.74265	0.454000	0.30748	TTC	SLC38A4	-	pfam_AA_transpt_TM	ENSG00000139209		0.378	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A4	HGNC	protein_coding	OTTHUMT00000404574.1	229	0.00	0	A			47173756	47173756	-1	no_errors	ENST00000266579	ensembl	human	known	69_37n	missense	148	45.19	122	SNP	1.000	G
SMG8	55181	genome.wustl.edu	37	17	57288244	57288244	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr17:57288244G>C	ENST00000543872.2	+	2	1096	c.832G>C	c.(832-834)Gaa>Caa	p.E278Q	SMG8_ENST00000580498.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.E278Q|SMG8_ENST00000300917.5_Missense_Mutation_p.E278Q|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	278				E -> V (in Ref. 2; BAB15576). {ECO:0000305}.	gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CCTCAAGGTAGAACCTCCTCG	0.502																																						dbGAP											0													69.0	78.0	75.0					17																	57288244		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.832G>C	17.37:g.57288244G>C	ENSP00000438748:p.Glu278Gln		Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	pfam_Smg8/Smg9	p.E278Q	ENST00000543872.2	37	c.832	CCDS11615.1	17	.	.	.	.	.	.	.	.	.	.	G	8.101	0.776559	0.16120	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.44881	0.91;0.91	5.88	5.88	0.94601	.	0.679496	0.16542	N	0.209903	T	0.38401	0.1039	L	0.34521	1.04	0.35078	D	0.763148	B	0.22909	0.077	B	0.23852	0.049	T	0.37957	-0.9683	10	0.36615	T	0.2	-12.7209	19.2147	0.93772	0.0:0.0:1.0:0.0	.	278	Q8ND04	SMG8_HUMAN	Q	278	ENSP00000300917:E278Q;ENSP00000438748:E278Q	ENSP00000300917:E278Q	E	+	1	0	SMG8	54643026	1.000000	0.71417	0.980000	0.43619	0.816000	0.46133	7.010000	0.76353	2.769000	0.95229	0.655000	0.94253	GAA	SMG8	-	pfam_Smg8/Smg9	ENSG00000167447		0.502	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	HGNC	protein_coding	OTTHUMT00000445960.2	112	0.00	0	G	NM_018149		57288244	57288244	+1	no_errors	ENST00000300917	ensembl	human	known	69_37n	missense	93	38.41	58	SNP	0.985	C
SMTN	6525	genome.wustl.edu	37	22	31487798	31487799	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr22:31487798_31487799insC	ENST00000347557.2	+	11	1815_1816	c.1597_1598insC	c.(1597-1599)gccfs	p.A533fs	SMTN_ENST00000404574.1_5'Flank|SMTN_ENST00000333137.7_Frame_Shift_Ins_p.A533fs|SMTN_ENST00000358743.1_Frame_Shift_Ins_p.A533fs	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	533					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)	p.S536fs*2(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CTTCAGCCATGCCCCCCCCAGT	0.629																																						dbGAP											1	Insertion - Frameshift(1)	ovary(1)							,,,,	39,4217		2,35,2091					,,,,	3.4	1.0			43	90,8154		1,88,4033	no	frameshift,frameshift,frameshift,frameshift,frameshift	SMTN	NM_134270.2,NM_134269.2,NM_006932.4,NM_001207018.1,NM_001207017.1	,,,,	3,123,6124	A1A1,A1R,RR		1.0917,0.9164,1.032	,,,,	,,,,		129,12371				-	-	-	SO:0001589	frameshift_variant	0			AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.1605dupC	22.37:g.31487806_31487806dupC	ENSP00000328635:p.Ala533fs		O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Frame_Shift_Ins	INS	pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.S536fs	ENST00000347557.2	37	c.1597_1598	CCDS13886.1	22																																																																																			SMTN	-	NULL	ENSG00000183963		0.629	SMTN-001	KNOWN	basic|CCDS	protein_coding	SMTN	HGNC	protein_coding	OTTHUMT00000321766.1	17	0.00	0	-	NM_134270		31487798	31487799	+1	no_errors	ENST00000347557	ensembl	human	known	69_37n	frame_shift_ins	3	40.00	2	INS	1.000:0.994	C
SNORD3B-1	26851	genome.wustl.edu	37	17	18967436	18967436	+	lincRNA	SNP	G	G	A			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr17:18967436G>A	ENST00000363359.1	+	0	432				SNORD3B-2_ENST00000364880.1_lincRNA					small nucleolar RNA, C/D box 3B-1																		aatgatccctgaaagtatagt	0.468																																						dbGAP											0																																										-	-	-			0			AF020534, AF020533, AF020532		17p11.2	2013-09-05	2006-11-28	2006-11-28	ENSG00000200229	ENSG00000265185			10168	non-coding RNA	RNA, small nucleolar			"""RNA, U3A1 small nucleolar, RNA, U3A1 small nucleolar"""	RNU3A1		9365252	Standard	NR_003271		Approved	U3a, U3b1, U3b2					17.37:g.18967436G>A				RNA	SNP	-	NULL	ENST00000363359.1	37	NULL		17																																																																																			SNORD3B-2	-	-	ENSG00000201750		0.468	SNORD3B-1-201	KNOWN	basic	snoRNA	SNORD3B-2	HGNC	lincRNA		20	0.00	0	G	NR_003271		18967436	18967436	-1	no_errors	ENST00000364880	ensembl	human	known	69_37n	rna	21	22.22	6	SNP	0.210	A
SNORD3C	780853	genome.wustl.edu	37	17	19091383	19091383	+	lincRNA	SNP	G	G	A	rs555313329	byFrequency	TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr17:19091383G>A	ENST00000362428.1	-	0	432				SNORD3A_ENST00000365494.1_lincRNA					small nucleolar RNA, C/D box 3C																		aagtttctctgaacgtgtaga	0.507																																						dbGAP											0																																										-	-	-			0					17p11.2	2013-09-05			ENSG00000199298	ENSG00000264940			33191	non-coding RNA	RNA, small nucleolar						9365252	Standard	NR_006881		Approved	U3-3					17.37:g.19091383G>A				RNA	SNP	-	NULL	ENST00000362428.1	37	NULL		17																																																																																			SNORD3A	-	-	ENSG00000202364		0.507	SNORD3C-201	KNOWN	basic	snoRNA	SNORD3A	HGNC	lincRNA		177	0.00	0	G	NR_006881		19091383	19091383	+1	no_errors	ENST00000365494	ensembl	human	known	69_37n	rna	123	12.14	17	SNP	0.986	A
STAB2	55576	genome.wustl.edu	37	12	104106175	104106175	+	Silent	SNP	A	A	G			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr12:104106175A>G	ENST00000388887.2	+	41	4569	c.4365A>G	c.(4363-4365)tcA>tcG	p.S1455S		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTACAGCTTCATGCAAGTGTG	0.517																																						dbGAP											0													157.0	145.0	149.0					12																	104106175		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4365A>G	12.37:g.104106175A>G				Silent	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.S1455	ENST00000388887.2	37	c.4365	CCDS31888.1	12																																																																																			STAB2	-	smart_EGF-like_Ca-bd,smart_EGF-like,smart_Prot_inh_squash,pfscan_EG-like_dom	ENSG00000136011		0.517	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	116	0.00	0	A			104106175	104106175	+1	no_errors	ENST00000388887	ensembl	human	known	69_37n	silent	107	21.32	29	SNP	0.001	G
STARD13	90627	genome.wustl.edu	37	13	33859766	33859766	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr13:33859766G>A	ENST00000336934.5	-	1	126	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	STARD13_ENST00000487412.1_5'UTR	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	4					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTGGGCACCTGACTGAACATC	0.552																																						dbGAP											0													158.0	153.0	155.0					13																	33859766		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.10C>T	13.37:g.33859766G>A	ENSP00000338785:p.Gln4*		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Nonsense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.Q4*	ENST00000336934.5	37	c.10	CCDS9348.1	13	.	.	.	.	.	.	.	.	.	.	G	39	7.511086	0.98329	.	.	ENSG00000133121	ENST00000336934	.	.	.	5.12	5.12	0.69794	.	0.234286	0.30930	N	0.008588	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	17.72	0.88348	0.0:0.0:1.0:0.0	.	.	.	.	X	4	.	ENSP00000338785:Q4X	Q	-	1	0	STARD13	32757766	1.000000	0.71417	0.966000	0.40874	0.963000	0.63663	4.355000	0.59424	2.654000	0.90174	0.555000	0.69702	CAG	STARD13	-	NULL	ENSG00000133121		0.552	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	HGNC	protein_coding	OTTHUMT00000276118.2	290	0.00	0	G	NM_001243466		33859766	33859766	-1	no_errors	ENST00000336934	ensembl	human	known	69_37n	nonsense	59	76.11	188	SNP	0.995	A
STK3	6788	genome.wustl.edu	37	8	99591915	99591915	+	Silent	SNP	A	A	G			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr8:99591915A>G	ENST00000419617.2	-	8	1065	c.925T>C	c.(925-927)Ttg>Ctg	p.L309L	STK3_ENST00000523601.1_Silent_p.L337L	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	309	Poly-Glu.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TCCTCTTCCAATTCTCGTTGC	0.313																																						dbGAP											0													194.0	188.0	190.0					8																	99591915		1819	4079	5898	-	-	-	SO:0001819	synonymous_variant	0			BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"""serine/threonine kinase 3 (Ste20, yeast homolog)"""			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.925T>C	8.37:g.99591915A>G			A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH,pfscan_Prot_kinase_cat_dom	p.L309	ENST00000419617.2	37	c.925	CCDS47900.1	8																																																																																			STK3	-	superfamily_Kinase-like_dom	ENSG00000104375		0.313	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK3	HGNC	protein_coding	OTTHUMT00000379635.1	318	0.00	0	A	NM_006281		99591915	99591915	-1	no_errors	ENST00000419617	ensembl	human	known	69_37n	silent	1121	15.58	207	SNP	0.982	G
TBX5	6910	genome.wustl.edu	37	12	114793477	114793477	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr12:114793477G>C	ENST00000310346.4	-	9	2083	c.1417C>G	c.(1417-1419)Cag>Gag	p.Q473E	TBX5_ENST00000405440.2_Missense_Mutation_p.Q473E|TBX5_ENST00000349716.5_Missense_Mutation_p.Q423E	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	473					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		AGGCCAGTCTGAGGCCCACAC	0.627																																					NSCLC(152;1358 1980 4050 23898 40356)	dbGAP											0													36.0	37.0	37.0					12																	114793477		2203	4300	6503	-	-	-	SO:0001583	missense	0			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1417C>G	12.37:g.114793477G>C	ENSP00000309913:p.Gln473Glu		A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box	p.Q473E	ENST00000310346.4	37	c.1417	CCDS9173.1	12	.	.	.	.	.	.	.	.	.	.	G	9.010	0.982210	0.18889	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.52057	0.68;0.68;0.68	5.42	5.42	0.78866	.	0.718325	0.14082	N	0.342616	T	0.38957	0.1060	L	0.32530	0.975	0.80722	D	1	B	0.29037	0.231	B	0.27608	0.081	T	0.24119	-1.0169	10	0.08381	T	0.77	.	19.2304	0.93836	0.0:0.0:1.0:0.0	.	473	Q99593	TBX5_HUMAN	E	423;473;370;473	ENSP00000337723:Q423E;ENSP00000309913:Q473E;ENSP00000384152:Q473E	ENSP00000309913:Q473E	Q	-	1	0	TBX5	113277860	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.698000	0.68302	2.540000	0.85666	0.655000	0.94253	CAG	TBX5	-	NULL	ENSG00000089225		0.627	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TBX5	HGNC	protein_coding	OTTHUMT00000388297.1	23	0.00	0	G	NM_080717		114793477	114793477	-1	no_errors	ENST00000310346	ensembl	human	known	69_37n	missense	24	44.19	19	SNP	1.000	C
TFIP11	24144	genome.wustl.edu	37	22	26890837	26890837	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr22:26890837C>T	ENST00000407690.1	-	13	2201	c.1918G>A	c.(1918-1920)Gac>Aac	p.D640N	TFIP11_ENST00000407148.1_Missense_Mutation_p.D640N|TFIP11_ENST00000405938.1_Missense_Mutation_p.D640N|TFIP11_ENST00000407431.1_Missense_Mutation_p.D640N	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	640					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CCTTCCCAGTCAATCACCCAA	0.493																																						dbGAP											0													111.0	92.0	98.0					22																	26890837		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.1918G>A	22.37:g.26890837C>T	ENSP00000384421:p.Asp640Asn		O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.D640N	ENST00000407690.1	37	c.1918	CCDS13838.1	22	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671703	0.88348	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.43	5.43	0.79202	GC-rich sequence DNA-binding factor domain (1);	0.132906	0.64402	D	0.000002	T	0.44138	0.1279	L	0.53729	1.69	0.80722	D	1	P	0.35493	0.505	B	0.39617	0.305	T	0.17440	-1.0369	10	0.20046	T	0.44	-35.3805	18.4159	0.90570	0.0:1.0:0.0:0.0	.	640	Q9UBB9	TFP11_HUMAN	N	640;640;640;325;640	ENSP00000384421:D640N;ENSP00000383892:D640N;ENSP00000385861:D640N;ENSP00000384297:D640N	ENSP00000384297:D640N	D	-	1	0	TFIP11	25220837	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.370000	0.79589	2.823000	0.97156	0.650000	0.86243	GAC	TFIP11	-	pfam_GCFC_dom	ENSG00000100109		0.493	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TFIP11	HGNC	protein_coding	OTTHUMT00000320750.1	142	0.70	1	C	NM_001008697		26890837	26890837	-1	no_errors	ENST00000405938	ensembl	human	known	69_37n	missense	95	22.13	27	SNP	1.000	T
THRAP3	9967	genome.wustl.edu	37	1	36766611	36766611	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr1:36766611G>A	ENST00000354618.5	+	10	2652	c.2428G>A	c.(2428-2430)Gac>Aac	p.D810N	THRAP3_ENST00000469141.2_Missense_Mutation_p.D810N	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	810	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACGGGCTTTGACAAATCAAG	0.522			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	dbGAP		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0													83.0	77.0	79.0					1																	36766611		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.2428G>A	1.37:g.36766611G>A	ENSP00000346634:p.Asp810Asn		D3DPS5|Q5VTK6	Missense_Mutation	SNP	NULL	p.D810N	ENST00000354618.5	37	c.2428	CCDS405.1	1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427722	0.83667	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.15372	2.43;2.43	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.29061	0.0722	L	0.34521	1.04	0.45161	D	0.998176	D	0.58268	0.982	P	0.60345	0.873	T	0.00360	-1.1790	10	0.29301	T	0.29	-13.6249	19.0254	0.92930	0.0:0.0:1.0:0.0	.	810	Q9Y2W1	TR150_HUMAN	N	810	ENSP00000346634:D810N;ENSP00000433825:D810N	ENSP00000346634:D810N	D	+	1	0	THRAP3	36539198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.310000	0.51911	2.822000	0.97130	0.650000	0.86243	GAC	THRAP3	-	NULL	ENSG00000054118		0.522	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THRAP3	HGNC	protein_coding	OTTHUMT00000021688.2	85	0.00	0	G	NM_005119		36766611	36766611	+1	no_errors	ENST00000354618	ensembl	human	known	69_37n	missense	34	46.88	30	SNP	1.000	A
THBS3	7059	genome.wustl.edu	37	1	155171777	155171777	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr1:155171777C>G	ENST00000368378.3	-	10	1167	c.1147G>C	c.(1147-1149)Gac>Cac	p.D383H	RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000541576.1_5'UTR|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.D263H	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	383	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAGTTTGGGTCACAGCCACCA	0.527																																						dbGAP											0													265.0	223.0	237.0					1																	155171777		2203	4300	6503	-	-	-	SO:0001583	missense	0			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1147G>C	1.37:g.155171777C>G	ENSP00000357362:p.Asp383His		B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.D383H	ENST00000368378.3	37	c.1147	CCDS1099.1	1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713517	0.48517	.	.	ENSG00000169231	ENST00000368378;ENST00000457183;ENST00000428962	D;D;D	0.92249	-3.0;-3.0;-3.0	4.66	4.66	0.58398	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.209112	0.42682	D	0.000662	D	0.84211	0.5422	N	0.05158	-0.105	0.38329	D	0.943756	D;D;D;D	0.55800	0.973;0.973;0.973;0.973	P;P;P;P	0.59115	0.852;0.852;0.852;0.852	D	0.85824	0.1387	10	0.42905	T	0.14	-27.5763	8.9058	0.35523	0.0:0.8998:0.0:0.1002	.	263;383;383;383	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	H	383;263;233	ENSP00000357362:D383H;ENSP00000392207:D263H;ENSP00000404040:D233H	ENSP00000357362:D383H	D	-	1	0	THBS3	153438401	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	3.822000	0.55708	2.597000	0.87782	0.591000	0.81541	GAC	THBS3	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like	ENSG00000169231		0.527	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS3	HGNC	protein_coding	OTTHUMT00000086856.1	77	0.00	0	C	NM_007112		155171777	155171777	-1	no_errors	ENST00000368378	ensembl	human	known	69_37n	missense	42	17.65	9	SNP	1.000	G
TRIM24	8805	genome.wustl.edu	37	7	138203954	138203954	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr7:138203954C>T	ENST00000343526.4	+	4	867	c.652C>T	c.(652-654)Cag>Tag	p.Q218*	TRIM24_ENST00000415680.2_Nonsense_Mutation_p.Q218*|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	218					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TGTCACCAGCCAGCGACCAGT	0.383																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	dbGAP											0													88.0	85.0	86.0					7																	138203954		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.652C>T	7.37:g.138203954C>T	ENSP00000340507:p.Gln218*		A4D1R7|A4D1R8|O95854	Nonsense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain	p.Q218*	ENST00000343526.4	37	c.652	CCDS5847.1	7	.	.	.	.	.	.	.	.	.	.	C	37	6.603133	0.97697	.	.	ENSG00000122779	ENST00000343526;ENST00000452999;ENST00000536822;ENST00000415680;ENST00000378381	.	.	.	4.47	4.47	0.54385	.	0.062472	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-5.0514	17.2617	0.87071	0.0:1.0:0.0:0.0	.	.	.	.	X	218;218;129;218;176	.	ENSP00000340507:Q218X	Q	+	1	0	TRIM24	137854494	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.562000	0.82300	2.464000	0.83262	0.563000	0.77884	CAG	TRIM24	-	smart_Znf_B-box,pfscan_Znf_B-box	ENSG00000122779		0.383	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM24	HGNC	protein_coding	OTTHUMT00000341814.1	100	0.00	0	C	NM_015905		138203954	138203954	+1	no_errors	ENST00000343526	ensembl	human	known	69_37n	nonsense	77	38.40	48	SNP	1.000	T
TUBGCP4	27229	genome.wustl.edu	37	15	43687823	43687823	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr15:43687823C>A	ENST00000260383.7	+	11	1362	c.1108C>A	c.(1108-1110)Cag>Aag	p.Q370K	TUBGCP4_ENST00000399460.3_Missense_Mutation_p.Q234K|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.Q370K			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	370					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		AGAACTGTTTCAGGCCTTCAT	0.433																																						dbGAP											0													307.0	289.0	294.0					15																	43687823		1940	4144	6084	-	-	-	SO:0001583	missense	0			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1108C>A	15.37:g.43687823C>A	ENSP00000260383:p.Gln370Lys		B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.Q370K	ENST00000260383.7	37	c.1108		15	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822356	0.71028	.	.	ENSG00000137822	ENST00000260383;ENST00000399460	T;T	0.08458	3.09;3.09	5.74	5.74	0.90152	.	0.050625	0.85682	D	0.000000	T	0.13670	0.0331	M	0.61703	1.905	0.80722	D	1	P;B	0.37548	0.599;0.411	B;B	0.38296	0.27;0.176	T	0.04796	-1.0926	10	0.23302	T	0.38	-11.1124	19.3307	0.94285	0.0:1.0:0.0:0.0	.	370;370	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	K	370;234	ENSP00000260383:Q370K;ENSP00000382387:Q234K	ENSP00000260383:Q370K	Q	+	1	0	TUBGCP4	41475115	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.776000	0.85560	2.881000	0.98747	0.650000	0.86243	CAG	TUBGCP4	-	pfam_Spc97_Spc98	ENSG00000137822		0.433	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	TUBGCP4	HGNC	protein_coding	OTTHUMT00000432970.1	665	0.00	0	C	NM_014444		43687823	43687823	+1	no_errors	ENST00000260383	ensembl	human	known	69_37n	missense	542	26.56	196	SNP	1.000	A
WFDC2	10406	genome.wustl.edu	37	20	44108611	44108611	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr20:44108611A>G	ENST00000372676.3	+	3	329	c.253A>G	c.(253-255)Att>Gtt	p.I85V	WFDC2_ENST00000488143.1_3'UTR|WFDC2_ENST00000339946.3_Missense_Mutation_p.I37V|WFDC2_ENST00000342873.3_Missense_Mutation_p.I34V|AL031663.1_ENST00000599747.1_5'Flank	NM_006103.3	NP_006094.3	Q14508	WFDC2_HUMAN	WAP four-disulfide core domain 2	85	WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.				negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase inhibitor activity (GO:0019828)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			lung(1)	1		Myeloproliferative disorder(115;0.0122)				CCAGGTGAACATTAACTTTCC	0.557																																						dbGAP											0													169.0	172.0	171.0					20																	44108611		2203	4300	6503	-	-	-	SO:0001583	missense	0			X63187	CCDS35501.1	20q13.12	2013-01-21			ENSG00000101443	ENSG00000101443		"""WAP four-disulfide core domain containing"""	15939	protein-coding gene	gene with protein product	"""epididymal protein 4"""					1686187, 10570965	Standard	NM_006103		Approved	HE4, WAP5, dJ461P17.6, EDDM4	uc002xoo.3	Q14508	OTTHUMG00000032594	ENST00000372676.3:c.253A>G	20.37:g.44108611A>G	ENSP00000361761:p.Ile85Val		A2A2A5|A2A2A6|A6PVD5|Q6IB27|Q8WXV9|Q8WXW0|Q8WXW1|Q8WXW2|Q96KJ1	Missense_Mutation	SNP	pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,prints_4-disulphide_core	p.I85V	ENST00000372676.3	37	c.253	CCDS35501.1	20	.	.	.	.	.	.	.	.	.	.	A	5.445	0.267130	0.10294	.	.	ENSG00000101443	ENST00000372676;ENST00000339946;ENST00000342873	T;T;T	0.71103	-0.54;-0.54;-0.54	3.96	-7.93	0.01156	Whey acidic protein, 4-disulphide core (5);	7.903700	0.00397	N	0.000056	T	0.43322	0.1242	N	0.17248	0.465	0.09310	N	1	B;B;B	0.22146	0.001;0.003;0.065	B;B;B	0.18871	0.004;0.006;0.023	T	0.47911	-0.9080	10	0.11182	T	0.66	.	0.4293	0.00468	0.2029:0.2415:0.1729:0.3826	.	34;37;85	Q14508-2;Q14508-3;Q14508	.;.;WFDC2_HUMAN	V	85;37;34	ENSP00000361761:I85V;ENSP00000340215:I37V;ENSP00000342890:I34V	ENSP00000340215:I37V	I	+	1	0	WFDC2	43542025	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.085000	0.01362	-2.554000	0.00477	0.533000	0.62120	ATT	WFDC2	-	pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core	ENSG00000101443		0.557	WFDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WFDC2	HGNC	protein_coding	OTTHUMT00000079476.3	355	0.00	0	A			44108611	44108611	+1	no_errors	ENST00000372676	ensembl	human	known	69_37n	missense	113	48.65	108	SNP	0.000	G
WSCD2	9671	genome.wustl.edu	37	12	108634315	108634315	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr12:108634315G>A	ENST00000332082.4	+	9	2157	c.1339G>A	c.(1339-1341)Ggc>Agc	p.G447S	WSCD2_ENST00000261400.3_Missense_Mutation_p.G447S|WSCD2_ENST00000547525.1_Missense_Mutation_p.G447S|WSCD2_ENST00000549903.1_Missense_Mutation_p.G447S			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	447						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CCACTGGAAGGGCAAAGGTAC	0.662																																						dbGAP											0													50.0	50.0	50.0					12																	108634315		1880	4100	5980	-	-	-	SO:0001583	missense	0				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.1339G>A	12.37:g.108634315G>A	ENSP00000331933:p.Gly447Ser		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.G447S	ENST00000332082.4	37	c.1339	CCDS41828.1	12	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535225	0.27475	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.30714	1.52;1.59;1.52;1.59	4.77	4.77	0.60923	.	0.049310	0.85682	D	0.000000	T	0.17195	0.0413	N	0.11313	0.125	0.80722	D	1	B;B	0.27853	0.101;0.191	B;B	0.31495	0.131;0.1	T	0.04467	-1.0949	10	0.02654	T	1	-37.3928	17.0051	0.86391	0.0:0.0:1.0:0.0	.	447;447	Q2TBF2-2;Q2TBF2	.;WSCD2_HUMAN	S	447	ENSP00000448047:G447S;ENSP00000261400:G447S;ENSP00000331933:G447S;ENSP00000447272:G447S	ENSP00000261400:G447S	G	+	1	0	WSCD2	107158445	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.134000	0.71689	2.481000	0.83766	0.549000	0.68633	GGC	WSCD2	-	NULL	ENSG00000075035		0.662	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WSCD2	HGNC	protein_coding	OTTHUMT00000405554.1	48	0.00	0	G	NM_014653		108634315	108634315	+1	no_errors	ENST00000261400	ensembl	human	known	69_37n	missense	27	28.95	11	SNP	1.000	A
ZHX1	11244	genome.wustl.edu	37	8	124266785	124266785	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr8:124266785G>A	ENST00000522655.1	-	3	1942	c.1402C>T	c.(1402-1404)Cgg>Tgg	p.R468W	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522595.1_5'Flank|ZHX1_ENST00000297857.2_Missense_Mutation_p.R468W|ZHX1_ENST00000395571.3_Missense_Mutation_p.R468W			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	468	Required for interaction with NFYA.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R468W(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTTTTTGCCCGAATGCCAAAT	0.383																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											140.0	149.0	146.0					8																	124266785		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.1402C>T	8.37:g.124266785G>A	ENSP00000428821:p.Arg468Trp		Q8IWD8	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.R468W	ENST00000522655.1	37	c.1402	CCDS6342.1	8	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297728	0.40694	.	.	ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655	D;D;D	0.99186	-5.53;-5.53;-5.53	5.27	4.41	0.53225	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.270097	0.36628	N	0.002491	D	0.99217	0.9728	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	D	0.99208	1.0875	9	0.72032	D	0.01	-7.535	15.6154	0.76764	0.0:0.0:0.8615:0.1385	.	468	Q9UKY1	ZHX1_HUMAN	W	468	ENSP00000297857:R468W;ENSP00000378938:R468W;ENSP00000428821:R468W	ENSP00000297857:R468W	R	-	1	2	ZHX1	124335966	1.000000	0.71417	0.996000	0.52242	0.374000	0.29953	5.173000	0.65010	1.464000	0.47987	-0.234000	0.12200	CGG	ZHX1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000165156		0.383	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZHX1	HGNC	protein_coding	OTTHUMT00000381759.1	300	0.00	0	G			124266785	124266785	-1	no_errors	ENST00000297857	ensembl	human	known	69_37n	missense	1024	10.79	124	SNP	1.000	A
ZNF281	23528	genome.wustl.edu	37	1	200376828	200376828	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr1:200376828G>C	ENST00000294740.3	-	2	2130	c.2006C>G	c.(2005-2007)tCc>tGc	p.S669C	ZNF281_ENST00000367353.1_Missense_Mutation_p.S669C|ZNF281_ENST00000367352.3_Missense_Mutation_p.S633C	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	669					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						GAGGTATTTGGAGTATTCTTG	0.413																																						dbGAP											0													120.0	130.0	127.0					1																	200376828		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.2006C>G	1.37:g.200376828G>C	ENSP00000294740:p.Ser669Cys		A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S669C	ENST00000294740.3	37	c.2006	CCDS1402.1	1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690660	0.48097	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.58358	0.34;0.34;0.34	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.73385	0.3580	M	0.71036	2.16	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.987	T	0.75659	-0.3241	10	0.87932	D	0	-0.1	19.4807	0.95008	0.0:0.0:1.0:0.0	.	633;669	A6NF48;Q9Y2X9	.;ZN281_HUMAN	C	669;669;633;374	ENSP00000294740:S669C;ENSP00000356322:S669C;ENSP00000356321:S633C	ENSP00000294740:S669C	S	-	2	0	ZNF281	198643451	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.858000	0.86971	2.597000	0.87782	0.655000	0.94253	TCC	ZNF281	-	NULL	ENSG00000162702		0.413	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF281	HGNC	protein_coding	OTTHUMT00000086879.2	120	0.00	0	G	NM_012482		200376828	200376828	-1	no_errors	ENST00000294740	ensembl	human	known	69_37n	missense	69	47.33	62	SNP	1.000	C
ZNF431	170959	genome.wustl.edu	37	19	21366706	21366706	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr19:21366706C>T	ENST00000311048.7	+	5	1744	c.1600C>T	c.(1600-1602)Cat>Tat	p.H534Y	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	534					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						TAGGAAAATTCATACTAGACA	0.318																																						dbGAP											0													65.0	74.0	71.0					19																	21366706		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.1600C>T	19.37:g.21366706C>T	ENSP00000308578:p.His534Tyr		A8KAK7|Q8IWC4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H534Y	ENST00000311048.7	37	c.1600	CCDS32979.1	19	.	.	.	.	.	.	.	.	.	.	.	14.10	2.434086	0.43224	.	.	ENSG00000196705	ENST00000311048	T	0.67523	-0.27	0.421	0.421	0.16451	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.71256	0.3318	M	0.87269	2.87	0.33388	D	0.575688	B	0.28470	0.213	B	0.37451	0.25	T	0.76418	-0.2966	9	0.87932	D	0	.	8.3187	0.32115	0.0:1.0:0.0:0.0	.	534	Q8TF32	ZN431_HUMAN	Y	534	ENSP00000308578:H534Y	ENSP00000308578:H534Y	H	+	1	0	ZNF431	21158546	0.998000	0.40836	0.094000	0.20943	0.085000	0.17905	5.154000	0.64894	0.452000	0.26830	0.455000	0.32223	CAT	ZNF431	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196705		0.318	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF431	HGNC	protein_coding	OTTHUMT00000463943.1	212	0.00	0	C	XM_086098		21366706	21366706	+1	no_errors	ENST00000311048	ensembl	human	known	69_37n	missense	224	40.90	155	SNP	1.000	T
ZNF592	9640	genome.wustl.edu	37	15	85327107	85327107	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr15:85327107C>T	ENST00000560079.2	+	4	1489	c.1201C>T	c.(1201-1203)Cca>Tca	p.P401S	ZNF592_ENST00000299927.3_Missense_Mutation_p.P401S	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	401					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCCTGATGATCCAAGTAAGTC	0.532																																						dbGAP											0													53.0	55.0	55.0					15																	85327107		2203	4299	6502	-	-	-	SO:0001583	missense	0			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.1201C>T	15.37:g.85327107C>T	ENSP00000452877:p.Pro401Ser		Q2M1T2|Q504Y9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P401S	ENST00000560079.2	37	c.1201	CCDS32317.1	15	.	.	.	.	.	.	.	.	.	.	C	5.974	0.363652	0.11296	.	.	ENSG00000166716	ENST00000299927	T	0.00608	6.25	5.63	4.66	0.58398	.	0.324485	0.32655	N	0.005807	T	0.00384	0.0012	N	0.08118	0	0.28675	N	0.90543	B	0.26845	0.161	B	0.24394	0.053	T	0.49273	-0.8957	10	0.08837	T	0.75	-5.676	13.7481	0.62887	0.0:0.8448:0.1552:0.0	.	401	Q92610	ZN592_HUMAN	S	401	ENSP00000299927:P401S	ENSP00000299927:P401S	P	+	1	0	ZNF592	83128111	0.845000	0.29573	1.000000	0.80357	0.754000	0.42855	2.687000	0.46976	2.654000	0.90174	0.643000	0.83706	CCA	ZNF592	-	NULL	ENSG00000166716		0.532	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF592	HGNC	protein_coding	OTTHUMT00000418779.2	67	0.00	0	C	NM_014630		85327107	85327107	+1	no_errors	ENST00000299927	ensembl	human	known	69_37n	missense	63	21.25	17	SNP	0.902	T
ZSWIM5	57643	genome.wustl.edu	37	1	45516765	45516765	+	Silent	SNP	C	C	T			TCGA-A8-A07B-01A-11W-A019-09	TCGA-A8-A07B-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	734421b9-ed55-45b0-9ad5-51bc754ebe90	0a007a6c-2f85-4061-9949-841299150cfc	g.chr1:45516765C>T	ENST00000359600.5	-	5	1618	c.1413G>A	c.(1411-1413)caG>caA	p.Q471Q		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	471						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GAATGGCACTCTGGGGAAGTG	0.537																																						dbGAP											0													74.0	74.0	74.0					1																	45516765		2017	4183	6200	-	-	-	SO:0001819	synonymous_variant	0			AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.1413G>A	1.37:g.45516765C>T			Q5SXQ9	Silent	SNP	pfscan_Znf_SWIM	p.Q471	ENST00000359600.5	37	c.1413	CCDS41319.1	1																																																																																			ZSWIM5	-	NULL	ENSG00000162415		0.537	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM5	HGNC	protein_coding	OTTHUMT00000024823.2	149	0.00	0	C	XM_046581		45516765	45516765	-1	no_errors	ENST00000359600	ensembl	human	known	69_37n	silent	107	43.68	83	SNP	1.000	T
