#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ABCG5	64240	genome.wustl.edu	37	2	44040269	44040269	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr2:44040269G>C	ENST00000260645.1	-	13	2081	c.1942C>G	c.(1942-1944)Ctc>Gtc	p.L648V	ABCG5_ENST00000405322.1_Missense_Mutation_p.L477V|ABCG5_ENST00000543989.1_Missense_Mutation_p.L253V	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	648					ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTGCTAATGAGATGATCCCTT	0.403																																						dbGAP											0													75.0	75.0	75.0					2																	44040269		2203	4300	6503	-	-	-	SO:0001583	missense	0			T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.1942C>G	2.37:g.44040269G>C	ENSP00000260645:p.Leu648Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2T9G2|Q96QZ2|Q96QZ3	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L648V	ENST00000260645.1	37	c.1942	CCDS1814.1	2	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365954	0.24684	.	.	ENSG00000138075	ENST00000260645;ENST00000405322;ENST00000543989	D;T;T	0.90197	-2.63;-1.27;0.96	5.0	-1.97	0.07503	.	0.540328	0.16063	N	0.231386	T	0.82181	0.4981	L	0.60455	1.87	0.29004	N	0.887279	B;B	0.23128	0.08;0.051	B;B	0.18871	0.023;0.01	T	0.65368	-0.6185	10	0.15066	T	0.55	.	1.9265	0.03318	0.4763:0.1029:0.191:0.2298	.	477;648	E7EX35;Q9H222	.;ABCG5_HUMAN	V	648;477;253	ENSP00000260645:L648V;ENSP00000384513:L477V;ENSP00000445107:L253V	ENSP00000260645:L648V	L	-	1	0	ABCG5	43893773	0.044000	0.20184	0.891000	0.34965	0.599000	0.36880	0.167000	0.16602	-0.303000	0.08856	-0.345000	0.07892	CTC	ABCG5	-	NULL	ENSG00000138075		0.403	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG5	HGNC	protein_coding	OTTHUMT00000250675.1	71	0.00	0	G	NM_022436		44040269	44040269	-1	no_errors	ENST00000260645	ensembl	human	known	69_37n	missense	54	11.48	7	SNP	0.013	C
ADD2	119	genome.wustl.edu	37	2	70905998	70905998	+	Silent	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr2:70905998G>A	ENST00000264436.4	-	11	1665	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	ADD2_ENST00000413157.2_Silent_p.F407F|ADD2_ENST00000430656.1_Silent_p.F423F|ADD2_ENST00000355733.3_Silent_p.F407F|ADD2_ENST00000407644.2_Silent_p.F407F	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	407					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCTCAAACACGAAGGCTGTGA	0.562																																						dbGAP											0													165.0	162.0	163.0					2																	70905998		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1221C>T	2.37:g.70905998G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Silent	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.F407	ENST00000264436.4	37	c.1221	CCDS1906.1	2																																																																																			ADD2	-	NULL	ENSG00000075340		0.562	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD2	HGNC	protein_coding	OTTHUMT00000251918.4	320	0.00	0	G	NM_001617		70905998	70905998	-1	no_errors	ENST00000264436	ensembl	human	known	69_37n	silent	272	10.82	33	SNP	0.918	A
AMBRA1	55626	genome.wustl.edu	37	11	46564007	46564007	+	Silent	SNP	C	C	T			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr11:46564007C>T	ENST00000458649.2	-	7	1978	c.1560G>A	c.(1558-1560)ctG>ctA	p.L520L	AMBRA1_ENST00000528950.1_Silent_p.L520L|AMBRA1_ENST00000298834.3_Silent_p.L520L|AMBRA1_ENST00000533727.1_Silent_p.L430L|AMBRA1_ENST00000426438.1_Silent_p.L520L|AMBRA1_ENST00000314845.3_Silent_p.L430L|AMBRA1_ENST00000534300.1_Silent_p.L520L			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	520					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTTCCCCACTCAGGCTCTGAT	0.567																																						dbGAP											0													59.0	59.0	59.0					11																	46564007		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.1560G>A	11.37:g.46564007C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L520	ENST00000458649.2	37	c.1560		11																																																																																			AMBRA1	-	NULL	ENSG00000110497		0.567	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	94	0.00	0	C	NM_017749		46564007	46564007	-1	no_errors	ENST00000458649	ensembl	human	known	69_37n	silent	103	14.17	17	SNP	0.936	T
ANKFY1	51479	genome.wustl.edu	37	17	4109717	4109717	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr17:4109717C>T	ENST00000341657.4	-	7	832	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	ANKFY1_ENST00000570535.1_Missense_Mutation_p.R308Q|ANKFY1_ENST00000433651.1_Missense_Mutation_p.R266Q|ANKFY1_ENST00000574367.1_Missense_Mutation_p.R266Q	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	266					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CTCCAGTCGTCGTGAGAGGGC	0.488																																						dbGAP											0													161.0	153.0	156.0					17																	4109717		2003	4162	6165	-	-	-	SO:0001583	missense	0			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.797G>A	17.37:g.4109717C>T	ENSP00000343362:p.Arg266Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.R308Q	ENST00000341657.4	37	c.923		17	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154719	0.38021	.	.	ENSG00000185722	ENST00000341657;ENST00000535427;ENST00000433651	T;T	0.53423	0.62;0.63	5.77	5.77	0.91146	Ankyrin repeat-containing domain (3);	0.156952	0.44688	D	0.000422	T	0.35799	0.0944	L	0.36672	1.1	0.52501	D	0.999954	B;B;B;B;B	0.23316	0.007;0.083;0.002;0.004;0.04	B;B;B;B;B	0.17433	0.007;0.018;0.001;0.003;0.003	T	0.13072	-1.0523	10	0.16420	T	0.52	-10.8648	12.2376	0.54524	0.0:0.9149:0.0:0.0851	.	207;266;266;266;308	F5H754;Q9P2R3-3;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;.;ANFY1_HUMAN;.;.	Q	266;207;266	ENSP00000343362:R266Q;ENSP00000416005:R266Q	ENSP00000343362:R266Q	R	-	2	0	ANKFY1	4056466	0.998000	0.40836	0.458000	0.27068	0.953000	0.61014	3.837000	0.55820	2.726000	0.93360	0.650000	0.86243	CGA	ANKFY1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000185722		0.488	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	HGNC	protein_coding	OTTHUMT00000438702.1	167	0.00	0	C	NM_016376		4109717	4109717	-1	no_errors	ENST00000570535	ensembl	human	known	69_37n	missense	187	13.82	30	SNP	0.972	T
ANO3	63982	genome.wustl.edu	37	11	26569062	26569062	+	Silent	SNP	C	C	T			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr11:26569062C>T	ENST00000256737.3	+	12	2106	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	ANO3_ENST00000525139.1_Silent_p.F402F|ANO3_ENST00000531568.1_Silent_p.F272F|ANO3_ENST00000537978.1_Silent_p.F402F|ANO3_ENST00000529242.1_3'UTR	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	418					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GCGTTTTCTTCTATGGATTAT	0.358																																						dbGAP											0													282.0	254.0	264.0					11																	26569062		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1254C>T	11.37:g.26569062C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3F5	Silent	SNP	pfam_Anoctamin	p.F418	ENST00000256737.3	37	c.1254	CCDS31447.1	11																																																																																			ANO3	-	pfam_Anoctamin	ENSG00000134343		0.358	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO3	HGNC	protein_coding	OTTHUMT00000387806.1	822	0.00	0	C	NM_031418		26569062	26569062	+1	no_errors	ENST00000256737	ensembl	human	known	69_37n	silent	646	12.09	89	SNP	0.996	T
ASIC2	40	genome.wustl.edu	37	17	31439028	31439028	+	Silent	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr17:31439028G>A	ENST00000359872.6	-	2	1374	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000225823.2_Silent_p.L256L|ASIC2_ENST00000448983.1_5'UTR	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	205					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	GTGGTGAGCAGAGGTTTGCCA	0.522																																						dbGAP											0													134.0	109.0	118.0					17																	31439028		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.613C>T	17.37:g.31439028G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PBX2|Q13553|Q6DJU1|Q8N3E2	Silent	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.L256	ENST00000359872.6	37	c.766	CCDS42296.1	17																																																																																			ASIC2	-	pfam_Na+channel_ASC,tigrfam_EnaC	ENSG00000108684		0.522	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC2	HGNC	protein_coding	OTTHUMT00000447552.1	192	0.00	0	G	NM_183377, NM_001094		31439028	31439028	-1	no_errors	ENST00000225823	ensembl	human	known	69_37n	silent	170	16.26	33	SNP	1.000	A
ASPM	259266	genome.wustl.edu	37	1	197069570	197069570	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr1:197069570T>C	ENST00000367409.4	-	18	9067	c.8811A>G	c.(8809-8811)atA>atG	p.I2937M	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2937	IQ 33. {ECO:0000255|PROSITE- ProRule:PRU00116}.|IQ 34. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCTGAATTTTTATGGTGCTAT	0.274																																						dbGAP											0													20.0	22.0	21.0					1																	197069570		2153	4273	6426	-	-	-	SO:0001583	missense	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.8811A>G	1.37:g.197069570T>C	ENSP00000356379:p.Ile2937Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.I2937M	ENST00000367409.4	37	c.8811	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.234844	0.58886	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.35048	1.33	5.09	2.51	0.30379	.	0.474289	0.21181	N	0.078806	T	0.56834	0.2012	M	0.85859	2.78	0.80722	D	1	P;D	0.69078	0.922;0.997	P;D	0.68621	0.717;0.959	T	0.57923	-0.7727	10	0.72032	D	0.01	.	6.4364	0.21825	0.2385:0.0:0.2506:0.511	.	923;2937	E7EQ84;Q8IZT6	.;ASPM_HUMAN	M	2937;923	ENSP00000356379:I2937M	ENSP00000356376:I923M	I	-	3	3	ASPM	195336193	0.989000	0.36119	0.997000	0.53966	0.939000	0.58152	0.048000	0.14078	0.848000	0.35191	0.460000	0.39030	ATA	ASPM	-	pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000066279		0.274	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	115	0.00	0	T	NM_018136		197069570	197069570	-1	no_errors	ENST00000367409	ensembl	human	known	69_37n	missense	77	14.44	13	SNP	0.997	C
BACE1	23621	genome.wustl.edu	37	11	117161249	117161249	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr11:117161249C>T	ENST00000313005.6	-	8	1679	c.1219G>A	c.(1219-1221)Gat>Aat	p.D407N	BACE1_ENST00000392937.6_Missense_Mutation_p.D307N|BACE1_ENST00000510630.1_Missense_Mutation_p.D282N|BACE1_ENST00000428381.2_Missense_Mutation_p.D338N|BACE1_ENST00000528053.1_Missense_Mutation_p.D373N|BACE1_ENST00000513780.1_Missense_Mutation_p.D382N|BACE1_ENST00000445823.2_Missense_Mutation_p.D363N	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	407					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CGGGCCCGATCAAAGACAACG	0.527																																						dbGAP											0													122.0	97.0	106.0					11																	117161249		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"""beta-site APP-cleaving enzyme"""	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.1219G>A	11.37:g.117161249C>T	ENSP00000318585:p.Asp407Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Missense_Mutation	SNP	pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Pept_A1_BACE,prints_Pept_A1_BACE1,prints_Peptidase_A1	p.D407N	ENST00000313005.6	37	c.1219	CCDS8383.1	11	.	.	.	.	.	.	.	.	.	.	C	37	6.073787	0.97256	.	.	ENSG00000186318	ENST00000313005;ENST00000392937;ENST00000528053;ENST00000510630;ENST00000428381;ENST00000513780;ENST00000445823	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	5.9	5.9	0.94986	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.82075	0.4958	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.999;0.999;0.981;1.0;0.993	D;D;D;P;D;P	0.79108	0.984;0.992;0.978;0.854;0.966;0.901	T	0.82800	-0.0278	10	0.87932	D	0	.	19.2604	0.93966	0.0:1.0:0.0:0.0	.	307;282;407;363;338;382	F8W807;E9PE65;P56817;P56817-3;P56817-4;P56817-2	.;.;BACE1_HUMAN;.;.;.	N	407;307;373;282;338;382;363	ENSP00000318585:D407N;ENSP00000431848:D373N;ENSP00000422461:D282N;ENSP00000402228:D338N;ENSP00000424536:D382N;ENSP00000403685:D363N	ENSP00000318585:D407N	D	-	1	0	BACE1	116666459	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.792000	0.85828	2.793000	0.96121	0.563000	0.77884	GAT	BACE1	-	pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1	ENSG00000186318		0.527	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BACE1	HGNC	protein_coding	OTTHUMT00000361505.1	159	0.00	0	C			117161249	117161249	-1	no_errors	ENST00000313005	ensembl	human	known	69_37n	missense	178	11.44	23	SNP	1.000	T
BCAT1	586	genome.wustl.edu	37	12	25054773	25054773	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr12:25054773G>A	ENST00000261192.7	-	2	579	c.53C>T	c.(52-54)tCa>tTa	p.S18L	BCAT1_ENST00000539780.1_Missense_Mutation_p.S18L|BCAT1_ENST00000538118.1_Missense_Mutation_p.S17L|BCAT1_ENST00000539282.1_Missense_Mutation_p.S30L|BCAT1_ENST00000544418.1_5'UTR|AC026310.1_ENST00000599478.1_5'Flank|BCAT1_ENST00000342945.5_Intron	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	18					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	CACCTCTTTTGATCCTCCTTC	0.453																																						dbGAP											0													71.0	68.0	69.0					12																	25054773		1876	4118	5994	-	-	-	SO:0001583	missense	0				CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"""branched chain aminotransferase 1, cytosolic"""	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.53C>T	12.37:g.25054773G>A	ENSP00000261192:p.Ser18Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Missense_Mutation	SNP	pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII	p.S18L	ENST00000261192.7	37	c.53	CCDS44845.1	12	.	.	.	.	.	.	.	.	.	.	G	11.31	1.599734	0.28534	.	.	ENSG00000060982	ENST00000261192;ENST00000538118;ENST00000539282;ENST00000539780	T;T;T;T	0.18810	2.21;2.21;2.22;2.19	4.7	1.73	0.24493	.	0.716982	0.12888	N	0.430822	T	0.13372	0.0324	L	0.38175	1.15	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.08055	0.002;0.002;0.002;0.003	T	0.28299	-1.0048	10	0.25751	T	0.34	-9.7277	3.6698	0.08269	0.0936:0.1641:0.5731:0.1692	.	18;30;18;17	B7Z5L0;F5H5E4;P54687;Q68DQ7	.;.;BCAT1_HUMAN;.	L	18;17;30;18	ENSP00000261192:S18L;ENSP00000440817:S17L;ENSP00000443459:S30L;ENSP00000440827:S18L	ENSP00000261192:S18L	S	-	2	0	BCAT1	24946040	0.009000	0.17119	0.001000	0.08648	0.065000	0.16274	1.792000	0.38754	0.562000	0.29204	-0.165000	0.13383	TCA	BCAT1	-	NULL	ENSG00000060982		0.453	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BCAT1	HGNC	protein_coding	OTTHUMT00000402080.1	90	0.00	0	G	NM_005504		25054773	25054773	-1	no_errors	ENST00000261192	ensembl	human	known	69_37n	missense	45	13.46	7	SNP	0.000	A
BLM	641	genome.wustl.edu	37	15	91293183	91293183	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr15:91293183G>A	ENST00000355112.3	+	3	803	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	BLM_ENST00000560509.1_Missense_Mutation_p.E229K	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	229					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GGATGACTCAGAATGGTTAAG	0.423			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													dbGAP	yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"""L, E"""	0													68.0	68.0	68.0					15																	91293183		2198	4298	6496	-	-	-	SO:0001583	missense	0	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.685G>A	15.37:g.91293183G>A	ENSP00000347232:p.Glu229Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52M96	Missense_Mutation	SNP	pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/RNaseD_C,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.E229K	ENST00000355112.3	37	c.685	CCDS10363.1	15	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254383	0.80135	.	.	ENSG00000197299	ENST00000355112	T	0.55588	0.51	5.77	2.91	0.33838	.	0.590538	0.16499	N	0.211755	T	0.39489	0.1080	L	0.32530	0.975	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.003	T	0.31447	-0.9943	10	0.54805	T	0.06	-11.4745	7.8483	0.29440	0.2554:0.0:0.7446:0.0	.	229;229	B2RAN0;P54132	.;BLM_HUMAN	K	229	ENSP00000347232:E229K	ENSP00000347232:E229K	E	+	1	0	BLM	89094187	0.006000	0.16342	0.001000	0.08648	0.972000	0.66771	0.757000	0.26433	0.380000	0.24823	0.650000	0.86243	GAA	BLM	-	NULL	ENSG00000197299		0.423	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLM	HGNC	protein_coding	OTTHUMT00000313495.1	235	0.00	0	G			91293183	91293183	+1	no_errors	ENST00000355112	ensembl	human	known	69_37n	missense	177	12.81	26	SNP	0.002	A
BMP2K	55589	genome.wustl.edu	37	4	79782550	79782550	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr4:79782550C>G	ENST00000335016.5	+	9	1161	c.995C>G	c.(994-996)tCt>tGt	p.S332C	BMP2K_ENST00000502871.1_Missense_Mutation_p.S332C	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	332					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AAGAATTCTTCTATTCCTTCA	0.323																																						dbGAP											0													60.0	56.0	58.0					4																	79782550		2201	4299	6500	-	-	-	SO:0001583	missense	0			AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.995C>G	4.37:g.79782550C>G	ENSP00000334836:p.Ser332Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S332C	ENST00000335016.5	37	c.995	CCDS47083.1	4	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	12.38|12.38|12.38	1.919180|1.919180|1.919180	0.33908|0.33908|0.33908	.|.|.	.|.|.	ENSG00000138756|ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000264889|ENST00000502871;ENST00000335016	.|.|T;T	.|.|0.74526	.|.|-0.85;-0.75	5.82|5.82|5.82	3.13|3.13|3.13	0.36017|0.36017|0.36017	.|.|Protein kinase-like domain (1);	.|.|0.572758	.|.|0.17589	.|.|N	.|.|0.168852	T|T|T	0.61110|0.61110|0.61110	0.2321|0.2321|0.2321	L|L|L	0.29908|0.29908|0.29908	0.895|0.895|0.895	0.22762|0.22762|0.22762	N|N|N	0.998768|0.998768|0.998768	.|.|B;B	.|.|0.21520	.|.|0.057;0.014	.|.|B;B	.|.|0.23419	.|.|0.046;0.01	T|T|T	0.51482|0.51482|0.51482	-0.8700|-0.8700|-0.8700	5|6|10	.|0.28530|0.44086	.|T|T	.|0.3|0.13	-0.1211|-0.1211|-0.1211	8.3637|8.3637|8.3637	0.32374|0.32374|0.32374	0.0:0.7282:0.129:0.1429|0.0:0.7282:0.129:0.1429|0.0:0.7282:0.129:0.1429	.|.|.	.|.|332;332	.|.|Q9NSY1;Q4W5H2	.|.|BMP2K_HUMAN;.	L|V|C	24|347|332	.|.|ENSP00000421768:S332C;ENSP00000334836:S332C	.|ENSP00000264889:L347V|ENSP00000334836:S332C	F|L|S	+|+|+	3|1|2	2|2|0	BMP2K|BMP2K|BMP2K	80001574|80001574|80001574	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.898000|0.898000|0.898000	0.35279|0.35279|0.35279	0.990000|0.990000|0.990000	0.78478|0.78478|0.78478	2.715000|2.715000|2.715000	0.47210|0.47210|0.47210	0.358000|0.358000|0.358000	0.24211|0.24211|0.24211	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	TTC|CTA|TCT	BMP2K	-	superfamily_Kinase-like_dom	ENSG00000138756		0.323	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BMP2K	HGNC	protein_coding		141	0.00	0	C	NM_017593		79782550	79782550	+1	no_errors	ENST00000335016	ensembl	human	known	69_37n	missense	125	11.35	16	SNP	1.000	G
BMP3	651	genome.wustl.edu	37	4	81967616	81967616	+	Silent	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr4:81967616G>A	ENST00000282701.2	+	2	1361	c.1041G>A	c.(1039-1041)caG>caA	p.Q347Q		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	347					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GGAAGAGCCAGACGCTCCAAT	0.493																																						dbGAP											0													54.0	53.0	54.0					4																	81967616		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.1041G>A	4.37:g.81967616G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VAS5	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10	p.Q347	ENST00000282701.2	37	c.1041	CCDS3588.1	4																																																																																			BMP3	-	pirsf_BMP3/GDF10	ENSG00000152785		0.493	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP3	HGNC	protein_coding	OTTHUMT00000252634.1	298	0.33	1	G			81967616	81967616	+1	no_errors	ENST00000282701	ensembl	human	known	69_37n	silent	276	10.68	33	SNP	1.000	A
CAMTA1	23261	genome.wustl.edu	37	1	7725242	7725242	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr1:7725242G>C	ENST00000303635.7	+	9	2842	c.2635G>C	c.(2635-2637)Gag>Cag	p.E879Q	CAMTA1_ENST00000439411.2_Missense_Mutation_p.E879Q	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	879	IPT/TIG.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTACTCCCCAGAGTGGTCTTA	0.677			T	WWTR1	epitheliod hemangioendothelioma																																	dbGAP		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													32.0	25.0	27.0					1																	7725242		2071	4117	6188	-	-	-	SO:0001583	missense	0			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2635G>C	1.37:g.7725242G>C	ENSP00000306522:p.Glu879Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.E879Q	ENST00000303635.7	37	c.2635	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	g	18.26	3.583843	0.65992	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.76709	-1.04;-1.04	5.34	5.34	0.76211	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89698	0.6790	M	0.86178	2.8	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.90982	0.4828	10	0.72032	D	0.01	-22.8381	19.0264	0.92934	0.0:0.0:1.0:0.0	.	879	Q9Y6Y1	CMTA1_HUMAN	Q	879	ENSP00000306522:E879Q;ENSP00000402561:E879Q	ENSP00000306522:E879Q	E	+	1	0	CAMTA1	7647829	1.000000	0.71417	0.956000	0.39512	0.936000	0.57629	9.404000	0.97306	2.512000	0.84698	0.478000	0.44815	GAG	CAMTA1	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set	ENSG00000171735		0.677	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	10	0.00	0	G	NM_015215		7725242	7725242	+1	no_errors	ENST00000303635	ensembl	human	known	69_37n	missense	7	36.36	4	SNP	1.000	C
CARD18	59082	genome.wustl.edu	37	11	105009659	105009659	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr11:105009659C>T	ENST00000530950.1	-	2	153	c.154G>A	c.(154-156)Gat>Aat	p.D52N	CARD18_ENST00000526823.1_Missense_Mutation_p.D13N|CARD18_ENST00000532895.1_Missense_Mutation_p.D13N	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN	caspase recruitment domain family, member 18	52	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				inflammatory response (GO:0006954)|regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)			central_nervous_system(1)|ovary(1)	2						CGAGCCTTATCCATGACAGTG	0.428																																						dbGAP											0													203.0	187.0	192.0					11																	105009659		1924	4143	6067	-	-	-	SO:0001583	missense	0			AY358231	CCDS53705.1	11q22.3	2008-09-02				ENSG00000255501			28861	protein-coding gene	gene with protein product		605354				11051551	Standard	NM_021571		Approved	UNQ5804, ICEBERG, pseudo-ICE	uc021qpy.1	P57730		ENST00000530950.1:c.154G>A	11.37:g.105009659C>T	ENSP00000436691:p.Asp52Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRF8	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	p.D52N	ENST00000530950.1	37	c.154	CCDS53705.1	11	.	.	.	.	.	.	.	.	.	.	.	17.63	3.436948	0.62955	.	.	ENSG00000255501	ENST00000530950;ENST00000526823;ENST00000532895	T;T;T	0.23552	1.9;1.9;1.9	2.69	1.77	0.24775	DEATH-like (2);Caspase Recruitment (3);	0.220594	0.44688	U	0.000421	T	0.30634	0.0771	.	.	.	0.09310	N	1	P	0.41475	0.751	P	0.50860	0.652	T	0.06427	-1.0827	9	0.56958	D	0.05	.	5.5194	0.16923	0.0:0.8424:0.0:0.1576	.	52	P57730	CAR18_HUMAN	N	52;13;13	ENSP00000436691:D52N;ENSP00000437035:D13N;ENSP00000437187:D13N	ENSP00000437035:D13N	D	-	1	0	CARD18	104514869	0.007000	0.16637	0.014000	0.15608	0.613000	0.37349	1.137000	0.31479	0.703000	0.31848	0.558000	0.71614	GAT	CARD18	-	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	ENSG00000255501		0.428	CARD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD18	HGNC	protein_coding	OTTHUMT00000388183.2	1191	0.00	0	C	NM_021571		105009659	105009659	-1	no_errors	ENST00000530950	ensembl	human	known	69_37n	missense	1143	10.68	137	SNP	0.018	T
CFAP53	220136	genome.wustl.edu	37	18	47787564	47787564	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr18:47787564C>A	ENST00000398545.4	-	3	460	c.343G>T	c.(343-345)Gaa>Taa	p.E115*		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		AATTGCATTTCTGTAAAATAC	0.303																																						dbGAP											0													86.0	78.0	81.0					18																	47787564		1794	4063	5857	-	-	-	SO:0001587	stop_gained	0																														ENST00000398545.4:c.343G>T	18.37:g.47787564C>A	ENSP00000381553:p.Glu115*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	NULL	p.E115*	ENST00000398545.4	37	c.343	CCDS11940.2	18	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949897	0.92660	.	.	ENSG00000172361	ENST00000398545	.	.	.	6.06	5.2	0.72013	.	0.000000	0.51477	U	0.000099	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-1.5754	13.1409	0.59434	0.0:0.9233:0.0:0.0767	.	.	.	.	X	115	.	ENSP00000381553:E115X	E	-	1	0	CCDC11	46041562	1.000000	0.71417	0.907000	0.35723	0.510000	0.34073	5.472000	0.66768	1.583000	0.49898	-0.142000	0.14014	GAA	CCDC11	-	NULL	ENSG00000172361		0.303	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC11	HGNC	protein_coding	OTTHUMT00000255922.3	251	0.00	0	C			47787564	47787564	-1	no_errors	ENST00000398545	ensembl	human	known	69_37n	nonsense	187	12.15	26	SNP	0.990	A
CDH1	999	genome.wustl.edu	37	16	68844139	68844139	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr16:68844139G>A	ENST00000261769.5	+	6	918	c.727G>A	c.(727-729)Gag>Aag	p.E243K	CDH1_ENST00000422392.2_Missense_Mutation_p.E243K|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	243	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.?(4)|p.E243*(2)|p.E243K(1)		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)		GAATGCAGTTGAGGATCCAAT	0.493			"""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	7	Unknown(4)|Substitution - Nonsense(2)|Substitution - Missense(1)	breast(7)											161.0	149.0	153.0					16																	68844139		2198	4300	6498	-	-	-	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	ENST00000261769.5:c.727G>A	16.37:g.68844139G>A	ENSP00000261769:p.Glu243Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E243K	ENST00000261769.5	37	c.727	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006465	0.74932	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.53857	0.6;0.6	5.22	5.22	0.72569	Cadherin (4);Cadherin-like (1);	0.000000	0.49916	D	0.000129	T	0.79137	0.4395	M	0.90870	3.155	0.80722	D	1	P;D	0.89917	0.955;1.0	P;D	0.87578	0.758;0.998	D	0.84040	0.0364	10	0.87932	D	0	.	17.9295	0.88992	0.0:0.0:1.0:0.0	.	243;243	Q9UII8;P12830	.;CADH1_HUMAN	K	243	ENSP00000261769:E243K;ENSP00000414946:E243K	ENSP00000261769:E243K	E	+	1	0	CDH1	67401640	1.000000	0.71417	0.566000	0.28421	0.030000	0.12068	9.476000	0.97823	2.592000	0.87571	0.557000	0.71058	GAG	CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000039068		0.493	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	257	0.00	0	G	NM_004360		68844139	68844139	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	missense	321	14.63	55	SNP	0.999	A
CELA3A	10136	genome.wustl.edu	37	1	22332186	22332186	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr1:22332186G>A	ENST00000290122.3	+	4	278	c.259G>A	c.(259-261)Gag>Aag	p.E87K	CELA3A_ENST00000374663.1_Missense_Mutation_p.E87K|RN7SL768P_ENST00000584415.1_RNA	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	87	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGTGTTGGGTGAGTACAACCT	0.602											OREG0013211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													110.0	97.0	101.0					1																	22332186		2197	4300	6497	-	-	-	SO:0001583	missense	0			D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"""protease E"""		"""elastase 3A, pancreatic (protease E)"", ""elastase 3A, pancreatic"""	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.259G>A	1.37:g.22332186G>A	ENSP00000290122:p.Glu87Lys	Somatic	755	WXS	Illumina GAIIx	Phase_IV	B1AQ53|Q9BRW4	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E87K	ENST00000290122.3	37	c.259	CCDS220.1	1	.	.	.	.	.	.	.	.	.	.	G	0.148	-1.094201	0.01858	.	.	ENSG00000142789	ENST00000290122;ENST00000374663;ENST00000374661	D;D	0.88818	-2.43;-2.43	3.88	2.96	0.34315	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.81064	0.4745	N	0.17800	0.525	0.33615	D	0.604053	P;P	0.42357	0.766;0.777	P;P	0.47206	0.541;0.504	T	0.77897	-0.2416	9	0.06236	T	0.91	-29.556	9.139	0.36892	0.1103:0.0:0.8897:0.0	.	87;87	B1AQ52;P09093	.;CEL3A_HUMAN	K	87;87;103	ENSP00000290122:E87K;ENSP00000363795:E87K	ENSP00000290122:E87K	E	+	1	0	CELA3A	22204773	1.000000	0.71417	0.725000	0.30721	0.007000	0.05969	3.507000	0.53371	0.831000	0.34780	0.400000	0.26472	GAG	CELA3A	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000142789		0.602	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA3A	HGNC	protein_coding	OTTHUMT00000007791.1	77	0.00	0	G	NM_005747		22332186	22332186	+1	no_errors	ENST00000290122	ensembl	human	known	69_37n	missense	96	15.04	17	SNP	0.993	A
CIR1	9541	genome.wustl.edu	37	2	175213464	175213464	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr2:175213464C>T	ENST00000342016.3	-	10	1206	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	372	Arg/Ser-rich (RS domain).				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						TCCTTTCTTTCAGAGCCTCTC	0.507																																						dbGAP											0													98.0	102.0	100.0					2																	175213464		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"""recepin"", ""CBF1 interacting corepressor"""	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.1114G>A	2.37:g.175213464C>T	ENSP00000339723:p.Glu372Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Missense_Mutation	SNP	pfam_CIR_N_dom,superfamily_Znf_CCHC	p.E372K	ENST00000342016.3	37	c.1114	CCDS2256.1	2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653008	0.88056	.	.	ENSG00000138433	ENST00000342016	.	.	.	6.16	6.16	0.99307	.	0.786919	0.12418	N	0.470647	T	0.41858	0.1177	L	0.56769	1.78	0.26535	N	0.974187	P;B	0.38922	0.651;0.361	B;B	0.33521	0.165;0.081	T	0.43442	-0.9391	9	0.19147	T	0.46	.	18.648	0.91418	0.0:1.0:0.0:0.0	.	372;372	A0PJI7;Q86X95	.;CIR1_HUMAN	K	372	.	ENSP00000339723:E372K	E	-	1	0	CIR1	174921710	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	4.482000	0.60257	2.937000	0.99478	0.650000	0.86243	GAA	CIR1	-	NULL	ENSG00000138433		0.507	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIR1	HGNC	protein_coding	OTTHUMT00000255460.1	228	0.00	0	C	NM_004882		175213464	175213464	-1	no_errors	ENST00000342016	ensembl	human	known	69_37n	missense	238	10.82	29	SNP	0.999	T
CMAS	55907	genome.wustl.edu	37	12	22214234	22214234	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr12:22214234G>A	ENST00000229329.2	+	6	938	c.808G>A	c.(808-810)Gag>Aag	p.E270K		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	270					lipopolysaccharide biosynthetic process (GO:0009103)|N-acetylneuraminate metabolic process (GO:0006054)	membrane (GO:0016020)|nucleus (GO:0005634)	N-acylneuraminate cytidylyltransferase activity (GO:0008781)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						TTTTGGCAAAGAGAAGCTTAA	0.343																																						dbGAP											0													99.0	105.0	103.0					12																	22214234		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF271388	CCDS8696.1	12p12.1	2008-08-04			ENSG00000111726	ENSG00000111726			18290	protein-coding gene	gene with protein product	"""CMP-Neu5Ac synthetase"""	603316				8889549, 7566098	Standard	NM_018686		Approved		uc001rfm.4	Q8NFW8	OTTHUMG00000169097	ENST00000229329.2:c.808G>A	12.37:g.22214234G>A	ENSP00000229329:p.Glu270Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96AX5|Q9NQZ0	Missense_Mutation	SNP	pfam_Cytidylyl_trans,superfamily_HAD-like_dom	p.E270K	ENST00000229329.2	37	c.808	CCDS8696.1	12	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631990	0.67015	.	.	ENSG00000111726	ENST00000229329	T	0.24908	1.83	5.97	5.97	0.96955	HAD-like domain (1);	0.181086	0.49305	D	0.000148	T	0.09949	0.0244	N	0.00985	-1.075	0.50313	D	0.999865	P	0.36010	0.532	B	0.31686	0.134	T	0.37384	-0.9708	10	0.14252	T	0.57	-4.3639	20.4135	0.99023	0.0:0.0:1.0:0.0	.	270	Q8NFW8	NEUA_HUMAN	K	270	ENSP00000229329:E270K	ENSP00000229329:E270K	E	+	1	0	CMAS	22105501	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.478000	0.66806	2.835000	0.97688	0.591000	0.81541	GAG	CMAS	-	pfam_Cytidylyl_trans	ENSG00000111726		0.343	CMAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMAS	HGNC	protein_coding	OTTHUMT00000402235.1	200	0.00	0	G	NM_018686		22214234	22214234	+1	no_errors	ENST00000229329	ensembl	human	known	69_37n	missense	152	11.05	19	SNP	1.000	A
COL1A2	1278	genome.wustl.edu	37	7	94047827	94047827	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr7:94047827G>C	ENST00000297268.6	+	33	2459	c.1988G>C	c.(1987-1989)aGa>aCa	p.R663T		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	663					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCTGGTCTCAGAGGTGAAATT	0.333										HNSCC(75;0.22)																												dbGAP											0													168.0	163.0	165.0					7																	94047827		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1988G>C	7.37:g.94047827G>C	ENSP00000297268:p.Arg663Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C	p.R663T	ENST00000297268.6	37	c.1988	CCDS34682.1	7	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892954	0.52121	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93133	-3.17	5.85	4.96	0.65561	.	0.146546	0.64402	D	0.000008	D	0.89962	0.6867	L	0.37800	1.135	0.36682	D	0.879124	B	0.27559	0.181	B	0.33960	0.173	D	0.90190	0.4249	10	0.72032	D	0.01	.	10.6933	0.45884	0.0688:0.1318:0.7994:0.0	.	663	P08123	CO1A2_HUMAN	T	663;664	ENSP00000297268:R663T	ENSP00000297268:R663T	R	+	2	0	COL1A2	93885763	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.712000	0.54875	1.616000	0.50265	0.655000	0.94253	AGA	COL1A2	-	NULL	ENSG00000164692		0.333	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A2	HGNC	protein_coding	OTTHUMT00000309045.2	248	0.40	1	G	NM_000089		94047827	94047827	+1	no_errors	ENST00000297268	ensembl	human	known	69_37n	missense	230	10.85	28	SNP	1.000	C
COPS5	10987	genome.wustl.edu	37	8	67976671	67976671	+	5'Flank	SNP	C	C	T			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr8:67976671C>T	ENST00000357849.4	-	0	0				COPS5_ENST00000517736.1_5'UTR|COPS5_ENST00000519963.1_Intron|CSPP1_ENST00000412460.1_5'UTR|CSPP1_ENST00000262210.5_Missense_Mutation_p.S13L	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5						cullin deneddylation (GO:0010388)|exosomal secretion (GO:1990182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein deneddylation (GO:0000338)|protein deubiquitination (GO:0016579)|regulation of cell cycle (GO:0051726)|regulation of JNK cascade (GO:0046328)|transcription from RNA polymerase II promoter (GO:0006366)|translation (GO:0006412)|translational initiation (GO:0006413)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 3 complex (GO:0005852)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|transcription coactivator activity (GO:0003713)|translation initiation factor activity (GO:0003743)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GTAACCTCTTCGGTCCGCGAC	0.697											OREG0018811	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													38.0	45.0	43.0					8																	67976671		2020	4182	6202	-	-	-	SO:0001631	upstream_gene_variant	0			U65928	CCDS6198.1	8q13.1	2013-03-14	2013-03-14		ENSG00000121022	ENSG00000121022			2240	protein-coding gene	gene with protein product		604850	"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 5"", ""COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis)"""			8837781, 9341143	Standard	NM_006837		Approved	JAB1, SGN5, MOV-34, CSN5	uc003xxe.3	Q92905	OTTHUMG00000164563		8.37:g.67976671C>T	Exception_encountered	Somatic	1103	WXS	Illumina GAIIx	Phase_IV	O15386|Q6AW95|Q86WQ4|Q9BQ17	Missense_Mutation	SNP	NULL	p.S13L	ENST00000357849.4	37	c.38	CCDS6198.1	8	.	.	.	.	.	.	.	.	.	.	C	11.04	1.520796	0.27211	.	.	ENSG00000104218	ENST00000262210;ENST00000389042	T	0.35973	1.28	3.48	-6.97	0.01616	.	.	.	.	.	T	0.13586	0.0329	N	0.08118	0	0.20307	N	0.999913	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.32955	-0.9887	9	0.62326	D	0.03	15.9121	0.8439	0.01156	0.2018:0.1232:0.2339:0.441	.	13;13;13	Q1MSJ5-1;Q1MSJ5;F8W7C3	.;CSPP1_HUMAN;.	L	13	ENSP00000262210:S13L	ENSP00000262210:S13L	S	+	2	0	CSPP1	68139225	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.289000	0.00525	-5.366000	0.00016	-2.246000	0.00285	TCG	CSPP1	-	NULL	ENSG00000104218		0.697	COPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPP1	HGNC	protein_coding	OTTHUMT00000379245.2	18	0.00	0	C			67976671	67976671	+1	no_errors	ENST00000262210	ensembl	human	known	69_37n	missense	34	20.93	9	SNP	0.000	T
CTTNBP2	83992	genome.wustl.edu	37	7	117432081	117432081	+	Nonsense_Mutation	SNP	G	G	C			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr7:117432081G>C	ENST00000160373.3	-	4	1260	c.1169C>G	c.(1168-1170)tCa>tGa	p.S390*	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	390	Pro-rich.				brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ATCTGGTGTTGAGCCAGTGCT	0.547																																						dbGAP											0													189.0	158.0	168.0					7																	117432081		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1169C>G	7.37:g.117432081G>C	ENSP00000160373:p.Ser390*	Somatic		WXS	Illumina GAIIx	Phase_IV	O43389|Q7LG11|Q9C0A5	Nonsense_Mutation	SNP	pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S390*	ENST00000160373.3	37	c.1169	CCDS5774.1	7	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344519	0.41498	.	.	ENSG00000077063	ENST00000160373	.	.	.	5.3	4.33	0.51752	.	0.542745	0.20338	N	0.094291	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-8.1212	7.7931	0.29131	0.0837:0.0:0.711:0.2053	.	.	.	.	X	390	.	ENSP00000160373:S390X	S	-	2	0	CTTNBP2	117219317	.	.	0.041000	0.18516	0.103000	0.19146	.	.	1.131000	0.42111	0.650000	0.86243	TCA	CTTNBP2	-	NULL	ENSG00000077063		0.547	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2	HGNC	protein_coding	OTTHUMT00000059201.4	464	0.00	0	G	NM_033427		117432081	117432081	-1	no_errors	ENST00000160373	ensembl	human	known	69_37n	nonsense	393	12.47	56	SNP	0.017	C
DLGAP3	58512	genome.wustl.edu	37	1	35370730	35370731	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr1:35370730_35370731insC	ENST00000373347.1	-	3	522_523	c.254_255insG	c.(253-255)ggtfs	p.G85fs	DLGAP3_ENST00000495979.1_5'Flank|DLGAP3_ENST00000235180.4_Frame_Shift_Ins_p.G85fs			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	85					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				AGGTGCTGCTACCCCCCCCAAC	0.703																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.255dupG	1.37:g.35370738_35370738dupC	ENSP00000362444:p.Gly85fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TDD5|Q9H3X7	Frame_Shift_Ins	INS	pfam_GKAP	p.S86fs	ENST00000373347.1	37	c.255_254	CCDS30670.1	1																																																																																			DLGAP3	-	NULL	ENSG00000116544		0.703	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP3	HGNC	protein_coding	OTTHUMT00000011554.1	20	0.00	0	-	NM_021234		35370730	35370731	-1	no_errors	ENST00000235180	ensembl	human	known	69_37n	frame_shift_ins	12	20.00	3	INS	0.928:1.000	C
ENOX2	10495	genome.wustl.edu	37	X	129822967	129822967	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chrX:129822967C>T	ENST00000370927.1	-	3	231	c.210G>A	c.(208-210)atG>atA	p.M70I	ENOX2_ENST00000394363.1_Missense_Mutation_p.M41I|ENOX2_ENST00000338144.3_Missense_Mutation_p.M70I|ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000370935.1_Missense_Mutation_p.M41I			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	70	Pro-rich.				cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GAATTCCAGTCATCATTCCAA	0.393																																					Ovarian(101;828 1506 2951 9500 35258)	dbGAP											0													136.0	113.0	121.0					X																	129822967		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.210G>A	X.37:g.129822967C>T	ENSP00000359965:p.Met70Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.M70I	ENST00000370927.1	37	c.210	CCDS14626.1	X	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497547	0.85069	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.74183	0.3683	L	0.56769	1.78	0.52099	D	0.999946	D	0.61080	0.989	D	0.68483	0.958	T	0.73662	-0.3912	8	.	.	.	-15.0217	14.7785	0.69749	0.0:1.0:0.0:0.0	.	70	Q16206	ENOX2_HUMAN	I	41;41;70;41;98;70;41	.	.	M	-	3	0	ENOX2	129650648	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.125000	0.77193	2.368000	0.80403	0.600000	0.82982	ATG	ENOX2	-	NULL	ENSG00000165675		0.393	ENOX2-004	KNOWN	basic|CCDS	protein_coding	ENOX2	HGNC	protein_coding	OTTHUMT00000058277.1	407	0.00	0	C	NM_182314		129822967	129822967	-1	no_errors	ENST00000338144	ensembl	human	known	69_37n	missense	229	11.58	30	SNP	1.000	T
EP300	2033	genome.wustl.edu	37	22	41545099	41545099	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr22:41545099C>T	ENST00000263253.7	+	13	3518	c.2299C>T	c.(2299-2301)Cag>Tag	p.Q767*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	767					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GTTCCTTCCTCAGACTCAGTT	0.453			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													dbGAP		Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0													141.0	122.0	128.0					22																	41545099		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.2299C>T	22.37:g.41545099C>T	ENSP00000263253:p.Gln767*	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKC2	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.Q767*	ENST00000263253.7	37	c.2299	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	50	16.467401	0.99864	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.52	5.52	0.82312	.	0.000000	0.43260	D	0.000583	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-7.1338	19.4558	0.94889	0.0:1.0:0.0:0.0	.	.	.	.	X	767	.	ENSP00000263253:Q767X	Q	+	1	0	EP300	39875045	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.072000	0.76777	2.611000	0.88343	0.655000	0.94253	CAG	EP300	-	NULL	ENSG00000100393		0.453	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	316	0.32	1	C	NM_001429		41545099	41545099	+1	no_errors	ENST00000263253	ensembl	human	known	69_37n	nonsense	300	11.76	40	SNP	1.000	T
ESYT1	23344	genome.wustl.edu	37	12	56522465	56522465	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr12:56522465A>G	ENST00000394048.5	+	1	626	c.362A>G	c.(361-363)tAt>tGt	p.Y121C	RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA|ESYT1_ENST00000541590.1_Missense_Mutation_p.Y121C|ESYT1_ENST00000267113.4_Missense_Mutation_p.Y121C	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	121					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AAAACTCTCTATATGAGTCAT	0.612																																						dbGAP											0													75.0	72.0	73.0					12																	56522465		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.362A>G	12.37:g.56522465A>G	ENSP00000377612:p.Tyr121Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_C2_dom,pfscan_C2_membr_targeting	p.Y121C	ENST00000394048.5	37	c.362	CCDS8904.1	12	.	.	.	.	.	.	.	.	.	.	A	15.67	2.900784	0.52227	.	.	ENSG00000139641	ENST00000394048;ENST00000267113;ENST00000541590	T;T;T	0.78246	-1.16;-1.16;-1.16	5.45	5.45	0.79879	.	0.445960	0.25801	N	0.028205	T	0.74718	0.3753	N	0.14661	0.345	0.27103	N	0.962575	P;D	0.76494	0.663;0.999	P;P	0.58820	0.487;0.846	T	0.69094	-0.5236	10	0.39692	T	0.17	-2.2616	13.3433	0.60557	1.0:0.0:0.0:0.0	.	121;121	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	C	121	ENSP00000377612:Y121C;ENSP00000267113:Y121C;ENSP00000445952:Y121C	ENSP00000267113:Y121C	Y	+	2	0	ESYT1	54808732	0.671000	0.27521	0.276000	0.24689	0.928000	0.56348	2.191000	0.42640	2.215000	0.71742	0.459000	0.35465	TAT	ESYT1	-	NULL	ENSG00000139641		0.612	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ESYT1	HGNC	protein_coding	OTTHUMT00000407906.1	60	0.00	0	A	NM_015292		56522465	56522465	+1	no_errors	ENST00000267113	ensembl	human	known	69_37n	missense	51	65.07	95	SNP	0.560	G
FAM153B	202134	genome.wustl.edu	37	5	175517376	175517376	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr5:175517376G>C	ENST00000253490.4	+	4	295	c.238G>C	c.(238-240)Gac>Cac	p.D80H	FAM153B_ENST00000515817.1_Missense_Mutation_p.D3H|FAM153B_ENST00000510151.1_Missense_Mutation_p.D3H|FAM153B_ENST00000512862.1_Missense_Mutation_p.D3H			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	80										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		AATGCAGGTGGACAAAGACAC	0.433																																						dbGAP											0													52.0	52.0	52.0					5																	175517376		1911	3450	5361	-	-	-	SO:0001583	missense	0			AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.238G>C	5.37:g.175517376G>C	ENSP00000253490:p.Asp80His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTI1	Missense_Mutation	SNP	prints_FAM153	p.D80H	ENST00000253490.4	37	c.238		5	.	.	.	.	.	.	.	.	.	.	G	9.587	1.125195	0.20959	.	.	ENSG00000182230	ENST00000515817;ENST00000253490	.	.	.	1.02	0.103	0.14526	.	.	.	.	.	T	0.36690	0.0976	N	0.19112	0.55	0.09310	N	1	D	0.76494	0.999	D	0.72982	0.979	T	0.17137	-1.0379	8	0.87932	D	0	.	3.4155	0.07375	0.2917:0.0:0.7083:0.0	.	80	P0C7A2	F153B_HUMAN	H	3;80	.	ENSP00000253490:D80H	D	+	1	0	FAM153B	175449982	0.948000	0.32251	0.005000	0.12908	0.057000	0.15508	0.836000	0.27545	0.017000	0.15025	0.411000	0.27672	GAC	FAM153B	-	prints_FAM153	ENSG00000182230		0.433	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	FAM153B	HGNC	protein_coding		159	0.00	0	G	NM_001079529		175517376	175517376	+1	no_errors	ENST00000253490	ensembl	human	known	69_37n	missense	171	13.64	27	SNP	0.005	C
FBXO43	286151	genome.wustl.edu	37	8	101153488	101153488	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr8:101153488C>T	ENST00000428847.2	-	2	1310	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	332					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CCACTGTCTTCAGGCGTTGAA	0.413																																						dbGAP											0													90.0	84.0	86.0					8																	101153488		1864	4105	5969	-	-	-	SO:0001583	missense	0			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.994G>A	8.37:g.101153488C>T	ENSP00000403293:p.Glu332Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C6HC,superfamily_F-box_dom_cyclin-like,smart_Znf_C6HC	p.E332K	ENST00000428847.2	37	c.994	CCDS47904.1	8	.	.	.	.	.	.	.	.	.	.	C	17.10	3.304315	0.60305	.	.	ENSG00000156509	ENST00000428847	T	0.44482	0.92	5.33	3.53	0.40419	.	0.093832	0.64402	N	0.000001	T	0.43545	0.1252	M	0.75264	2.295	0.46241	D	0.998943	B;B	0.25390	0.125;0.071	B;B	0.22753	0.041;0.019	T	0.43686	-0.9376	10	0.72032	D	0.01	-9.9053	11.8426	0.52364	0.0:0.8577:0.0:0.1423	.	298;332	C9J908;Q4G163	.;FBX43_HUMAN	K	332	ENSP00000403293:E332K	ENSP00000403293:E332K	E	-	1	0	FBXO43	101222664	1.000000	0.71417	0.991000	0.47740	0.985000	0.73830	3.583000	0.53928	0.749000	0.32854	0.655000	0.94253	GAA	FBXO43	-	NULL	ENSG00000156509		0.413	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO43	HGNC	protein_coding	OTTHUMT00000380380.1	211	0.00	0	C	XM_209918		101153488	101153488	-1	no_errors	ENST00000428847	ensembl	human	known	69_37n	missense	171	26.92	63	SNP	1.000	T
GP2	2813	genome.wustl.edu	37	16	20331055	20331055	+	Silent	SNP	G	G	C			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr16:20331055G>C	ENST00000381362.4	-	7	979	c.903C>G	c.(901-903)ctC>ctG	p.L301L	GP2_ENST00000381360.5_Silent_p.L154L|GP2_ENST00000302555.5_Silent_p.L298L|GP2_ENST00000341642.5_Silent_p.L151L|GP2_ENST00000573897.1_5'UTR	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	301	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGACCAAGGAGAGGGTGTTTT	0.418																																						dbGAP											0													439.0	412.0	421.0					16																	20331055		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.903C>G	16.37:g.20331055G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFM9|A6NJA8|Q13338|Q9UIF1	Silent	SNP	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.L301	ENST00000381362.4	37	c.903	CCDS42128.1	16																																																																																			GP2	-	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	ENSG00000169347		0.418	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GP2	HGNC	protein_coding	OTTHUMT00000436920.1	451	0.22	1	G	NM_016295		20331055	20331055	-1	no_errors	ENST00000381362	ensembl	human	known	69_37n	silent	460	11.52	60	SNP	0.474	C
GUCY1A2	2977	genome.wustl.edu	37	11	106810633	106810633	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr11:106810633C>T	ENST00000526355.2	-	4	1227	c.759G>A	c.(757-759)atG>atA	p.M253I	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.M253I|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.M253I	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	253					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	CAGCCTTAATCATCCCCAGCA	0.473																																						dbGAP											0													105.0	102.0	103.0					11																	106810633		2201	4298	6499	-	-	-	SO:0001583	missense	0			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.759G>A	11.37:g.106810633C>T	ENSP00000431245:p.Met253Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4C4|B7ZLT5	Missense_Mutation	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.M253I	ENST00000526355.2	37	c.759	CCDS8335.1	11	.	.	.	.	.	.	.	.	.	.	C	1.093	-0.663462	0.03428	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	T;T;T	0.38560	1.13;1.13;1.13	5.01	5.01	0.66863	Heme-NO binding (1);NO signalling/Golgi transport  ligand-binding domain (1);	0.000000	0.53938	U	0.000041	T	0.22475	0.0542	N	0.04090	-0.28	0.40138	D	0.9768	B;B;B	0.26002	0.006;0.004;0.139	B;B;B	0.25405	0.01;0.004;0.06	T	0.11470	-1.0586	10	0.10636	T	0.68	.	17.3097	0.87206	0.0:1.0:0.0:0.0	.	253;253;253	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	I	253	ENSP00000431245:M253I;ENSP00000282249:M253I;ENSP00000344874:M253I	ENSP00000282249:M253I	M	-	3	0	GUCY1A2	106315843	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.094000	0.50227	2.330000	0.79161	0.591000	0.81541	ATG	GUCY1A2	-	pfam_Heme_NO-bd,superfamily_NO_sig/Golgi_transp_ligand-bd	ENSG00000152402		0.473	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	GUCY1A2	HGNC	protein_coding	OTTHUMT00000389003.2	475	0.00	0	C			106810633	106810633	-1	no_errors	ENST00000282249	ensembl	human	known	69_37n	missense	375	10.64	45	SNP	1.000	T
HSPG2	3339	genome.wustl.edu	37	1	22211641	22211642	+	Frame_Shift_Ins	INS	-	-	G	rs546808961		TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr1:22211641_22211642insG	ENST00000374695.3	-	11	1298_1299	c.1219_1220insC	c.(1219-1221)cagfs	p.Q407fs		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	407	Ig-like C2-type 1.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGTCACCACCTGGGGGGGCACT	0.668																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.1220dupC	1.37:g.22211648_22211648dupG	ENSP00000363827:p.Gln407fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16287|Q5SZI3|Q9H3V5	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.Q407fs	ENST00000374695.3	37	c.1220_1219	CCDS30625.1	1																																																																																			HSPG2	-	pfam_Ig_I-set,superfamily_LDrepeatLR_classA_rpt,pfscan_Ig-like	ENSG00000142798		0.668	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	9	0.00	0	-	NM_005529		22211641	22211642	-1	no_errors	ENST00000374695	ensembl	human	known	69_37n	frame_shift_ins	8	20.00	2	INS	1.000:0.999	G
INCENP	3619	genome.wustl.edu	37	11	61908274	61908274	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr11:61908274C>T	ENST00000394818.3	+	9	1644	c.1442C>T	c.(1441-1443)tCa>tTa	p.S481L	INCENP_ENST00000278849.4_Missense_Mutation_p.S481L	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	481					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ACCCCTTCCTCACCCTGCCCA	0.667																																						dbGAP											0													41.0	39.0	40.0					11																	61908274		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.1442C>T	11.37:g.61908274C>T	ENSP00000378295:p.Ser481Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MQD2|Q5Y192	Missense_Mutation	SNP	pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd	p.S481L	ENST00000394818.3	37	c.1442	CCDS44624.1	11	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144897	0.57044	.	.	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.15017	2.46;2.46	5.46	4.56	0.56223	.	0.139677	0.33005	N	0.005399	T	0.11110	0.0271	N	0.22421	0.69	0.29436	N	0.859466	P;B;B	0.44986	0.847;0.001;0.0	B;B;B	0.36464	0.225;0.003;0.001	T	0.04268	-1.0964	10	0.51188	T	0.08	.	11.9522	0.52961	0.0:0.9159:0.0:0.0841	.	481;481;481	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	L	481	ENSP00000378295:S481L;ENSP00000278849:S481L	ENSP00000278849:S481L	S	+	2	0	INCENP	61664850	0.998000	0.40836	0.928000	0.36995	0.853000	0.48598	5.521000	0.67086	1.319000	0.45190	0.655000	0.94253	TCA	INCENP	-	NULL	ENSG00000149503		0.667	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INCENP	HGNC	protein_coding	OTTHUMT00000394723.2	17	0.00	0	C	NM_020238		61908274	61908274	+1	no_errors	ENST00000394818	ensembl	human	known	69_37n	missense	13	31.58	6	SNP	0.968	T
ITCH	83737	genome.wustl.edu	37	20	33026307	33026307	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr20:33026307G>A	ENST00000262650.6	+	9	809	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	ITCH_ENST00000535650.1_Missense_Mutation_p.E74K|ITCH_ENST00000374864.4_Missense_Mutation_p.E184K			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	225					apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						AGATGACCCTGAAGATGCAGG	0.428																																						dbGAP											0													113.0	106.0	108.0					20																	33026307		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.673G>A	20.37:g.33026307G>A	ENSP00000262650:p.Glu225Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.E225K	ENST00000262650.6	37	c.673	CCDS58768.1	20	.	.	.	.	.	.	.	.	.	.	G	5.851	0.341161	0.11069	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.30448	1.53;1.55;1.97	5.12	5.12	0.69794	.	0.575032	0.19823	N	0.105270	T	0.21347	0.0514	L	0.27053	0.805	0.41596	D	0.988827	B;P;P	0.45594	0.063;0.862;0.594	B;B;B	0.39185	0.026;0.293;0.164	T	0.04400	-1.0954	10	0.10902	T	0.67	.	16.3636	0.83296	0.0:0.0:1.0:0.0	.	136;225;184	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	K	184;74;225	ENSP00000363998:E184K;ENSP00000445608:E74K;ENSP00000262650:E225K	ENSP00000262650:E225K	E	+	1	0	ITCH	32489968	1.000000	0.71417	0.998000	0.56505	0.096000	0.18686	6.788000	0.75105	2.384000	0.81235	0.655000	0.94253	GAA	ITCH	-	NULL	ENSG00000078747		0.428	ITCH-002	KNOWN	basic|CCDS	protein_coding	ITCH	HGNC	protein_coding	OTTHUMT00000078783.2	488	0.00	0	G			33026307	33026307	+1	no_errors	ENST00000262650	ensembl	human	known	69_37n	missense	468	19.28	112	SNP	0.994	A
ITPR1	3708	genome.wustl.edu	37	3	4726864	4726864	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr3:4726864G>A	ENST00000443694.2	+	27	3631	c.3631G>A	c.(3631-3633)Gag>Aag	p.E1211K	ITPR1_ENST00000423119.2_Missense_Mutation_p.E1217K|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.E1226K|ITPR1_ENST00000302640.8_Missense_Mutation_p.E1211K|ITPR1_ENST00000357086.4_Missense_Mutation_p.E1217K|ITPR1_ENST00000456211.2_Missense_Mutation_p.E1202K			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1226					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CGTGGTGCTGGAGCTGCTGCA	0.577																																						dbGAP											0													31.0	31.0	31.0					3																	4726864		2092	4229	6321	-	-	-	SO:0001583	missense	0			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.3631G>A	3.37:g.4726864G>A	ENSP00000401671:p.Glu1211Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.E1211K	ENST00000443694.2	37	c.3631	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.720400	0.96839	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	5.25	5.25	0.73442	Intracellular calcium-release channel (1);	0.050938	0.85682	N	0.000000	D	0.92799	0.7710	M	0.68593	2.085	0.80722	D	1	D;P	0.59767	0.986;0.837	P;B	0.58266	0.836;0.431	D	0.92810	0.6263	10	0.51188	T	0.08	.	18.8703	0.92311	0.0:0.0:1.0:0.0	.	1226;1217	Q14643;G5E9P1	ITPR1_HUMAN;.	K	1226;1211;1226;1217;1217;1202;1211	ENSP00000306253:E1211K;ENSP00000346595:E1226K;ENSP00000405934:E1217K;ENSP00000349597:E1217K;ENSP00000397885:E1202K;ENSP00000401671:E1211K	ENSP00000306253:E1211K	E	+	1	0	ITPR1	4701864	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.731000	0.98807	2.425000	0.82216	0.591000	0.81541	GAG	ITPR1	-	pfam_Ca-rel_channel	ENSG00000150995		0.577	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	62	0.00	0	G	NM_002222		4726864	4726864	+1	no_errors	ENST00000302640	ensembl	human	known	69_37n	missense	45	10.00	5	SNP	1.000	A
KDM5C	8242	genome.wustl.edu	37	X	53223539	53223539	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chrX:53223539C>T	ENST00000375401.3	-	23	4352	c.3820G>A	c.(3820-3822)Gag>Aag	p.E1274K	KDM5C_ENST00000404049.3_Missense_Mutation_p.E1273K|KDM5C_ENST00000452825.3_Missense_Mutation_p.E1207K|KDM5C_ENST00000375383.3_Missense_Mutation_p.E1233K|KDM5C_ENST00000375379.3_Missense_Mutation_p.E1274K	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1274					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GCCTCGCCCTCGGGCAGCCGC	0.647			"""N, F, S"""		clear cell renal carcinoma																																	dbGAP		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													19.0	18.0	18.0					X																	53223539		2200	4299	6499	-	-	-	SO:0001583	missense	0			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.3820G>A	X.37:g.53223539C>T	ENSP00000364550:p.Glu1274Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.E1274K	ENST00000375401.3	37	c.3820	CCDS14351.1	X	.	.	.	.	.	.	.	.	.	.	c	25.8	4.674661	0.88445	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.01178	5.22;5.22;5.22;5.22;5.22	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.08358	0.0208	M	0.86343	2.81	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.00797	-1.1562	10	0.87932	D	0	-21.8272	14.4625	0.67459	0.0:1.0:0.0:0.0	.	1207;1273;1274	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	K	1207;1274;1273;1274;1233	ENSP00000445176:E1207K;ENSP00000364550:E1274K;ENSP00000385394:E1273K;ENSP00000364528:E1274K;ENSP00000364532:E1233K	ENSP00000364528:E1274K	E	-	1	0	KDM5C	53240264	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	7.781000	0.85668	1.991000	0.58162	0.525000	0.51046	GAG	KDM5C	-	NULL	ENSG00000126012		0.647	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	HGNC	protein_coding	OTTHUMT00000056737.2	53	0.00	0	C	NM_004187		53223539	53223539	-1	no_errors	ENST00000375401	ensembl	human	known	69_37n	missense	59	16.44	12	SNP	1.000	T
KRT5	3852	genome.wustl.edu	37	12	52910585	52910585	+	Silent	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr12:52910585G>A	ENST00000252242.4	-	7	1665	c.1275C>T	c.(1273-1275)ctC>ctT	p.L425L		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	425	Coil 2.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGCATCCTTGAGGGCCAGCT	0.617																																						dbGAP											0													85.0	77.0	80.0					12																	52910585		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1275C>T	12.37:g.52910585G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PI71|Q6UBJ0|Q8TA91	Nonsense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.Q133*	ENST00000252242.4	37	c.397	CCDS8830.1	12	.	.	.	.	.	.	.	.	.	.	G	9.501	1.103116	0.20632	.	.	ENSG00000186081	ENST00000548409	.	.	.	5.93	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.301	0.43653	0.0685:0.0:0.7988:0.1327	.	.	.	.	X	133	.	.	Q	-	1	0	KRT5	51196852	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	1.627000	0.37050	2.805000	0.96524	0.655000	0.94253	CAA	KRT5	-	pfam_F,prints_Keratin_II	ENSG00000186081		0.617	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT5	HGNC	protein_coding	OTTHUMT00000405312.1	251	0.00	0	G			52910585	52910585	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000548409	ensembl	human	putative	69_37n	nonsense	169	12.44	24	SNP	1.000	A
LPXN	9404	genome.wustl.edu	37	11	58338121	58338121	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr11:58338121G>A	ENST00000395074.2	-	2	167	c.79C>T	c.(79-81)Cct>Tct	p.P27S	LPXN_ENST00000528954.1_Missense_Mutation_p.P32S|LPXN_ENST00000528489.1_Silent_p.L22L	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	27					cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AGGGGAAGAGGAGCTGGGTTG	0.458																																						dbGAP											0													92.0	86.0	88.0					11																	58338121		2201	4295	6496	-	-	-	SO:0001583	missense	0			AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.79C>T	11.37:g.58338121G>A	ENSP00000378512:p.Pro27Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8B4|B4DV71|Q53FW6|Q6FI07	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM	p.P32S	ENST00000395074.2	37	c.94	CCDS7969.1	11	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.186219	0.00305	.	.	ENSG00000110031	ENST00000528954;ENST00000395074	T;T	0.27256	1.71;1.68	4.64	-4.02	0.04034	.	0.830271	0.10910	N	0.620716	T	0.11965	0.0291	N	0.05383	-0.06	0.21841	N	0.999519	B;B	0.12630	0.0;0.006	B;B	0.15870	0.001;0.014	T	0.25847	-1.0120	10	0.38643	T	0.18	.	11.7885	0.52055	0.7786:0.0:0.2214:0.0	.	32;27	B4DV71;O60711	.;LPXN_HUMAN	S	32;27	ENSP00000431284:P32S;ENSP00000378512:P27S	ENSP00000378512:P27S	P	-	1	0	LPXN	58094697	0.004000	0.15560	0.001000	0.08648	0.180000	0.23129	-0.639000	0.05446	-0.688000	0.05155	-1.028000	0.02416	CCT	LPXN	-	pirsf_Leupaxin	ENSG00000110031		0.458	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPXN	HGNC	protein_coding	OTTHUMT00000394709.1	208	0.00	0	G	NM_004811		58338121	58338121	-1	no_errors	ENST00000528954	ensembl	human	known	69_37n	missense	170	11.46	22	SNP	0.000	A
LRRIQ1	84125	genome.wustl.edu	37	12	85518188	85518188	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr12:85518188G>A	ENST00000393217.2	+	17	3959	c.3898G>A	c.(3898-3900)Gaa>Aaa	p.E1300K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1300										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCAGAAGAGAGAAGACAGCAA	0.413																																						dbGAP											0													166.0	180.0	175.0					12																	85518188		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3898G>A	12.37:g.85518188G>A	ENSP00000376910:p.Glu1300Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.E1300K	ENST00000393217.2	37	c.3898	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	G	13.07	2.128234	0.37533	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.54479	0.57	5.63	2.23	0.28157	.	0.757438	0.11474	N	0.560383	T	0.33177	0.0854	N	0.19112	0.55	0.09310	N	1	B;B	0.24043	0.096;0.096	B;B	0.21708	0.021;0.036	T	0.19451	-1.0305	10	0.25751	T	0.34	.	6.3636	0.21443	0.1892:0.1563:0.6545:0.0	.	1300;1275	Q96JM4;C9JI57	LRIQ1_HUMAN;.	K	1300;1275;1300	ENSP00000376910:E1300K	ENSP00000256007:E1300K	E	+	1	0	LRRIQ1	84042319	0.864000	0.29904	0.139000	0.22197	0.116000	0.19942	0.552000	0.23376	0.670000	0.31165	0.591000	0.81541	GAA	LRRIQ1	-	NULL	ENSG00000133640		0.413	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	734	0.14	1	G	NM_032165		85518188	85518188	+1	no_errors	ENST00000393217	ensembl	human	known	69_37n	missense	315	15.01	56	SNP	0.065	A
MCF2L2	23101	genome.wustl.edu	37	3	182937693	182937693	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr3:182937693G>C	ENST00000328913.3	-	21	2618	c.2321C>G	c.(2320-2322)tCt>tGt	p.S774C	MCF2L2_ENST00000473233.1_Missense_Mutation_p.S774C	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	774	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ATCTTCAGGAGACTCGAAATC	0.353																																						dbGAP											0													81.0	82.0	81.0					3																	182937693		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2321C>G	3.37:g.182937693G>C	ENSP00000328118:p.Ser774Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.S774C	ENST00000328913.3	37	c.2321	CCDS3243.1	3	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753487	0.49362	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.64260	-0.09;-0.09	4.05	3.12	0.35913	Dbl homology (DH) domain (5);	0.485646	0.17700	N	0.164975	T	0.68495	0.3007	M	0.65975	2.015	0.80722	D	1	D	0.63046	0.992	P	0.57371	0.819	T	0.69146	-0.5222	10	0.72032	D	0.01	.	6.1774	0.20451	0.1504:0.0:0.8496:0.0	.	774	Q86YR7	MF2L2_HUMAN	C	774	ENSP00000328118:S774C;ENSP00000420070:S774C	ENSP00000328118:S774C	S	-	2	0	MCF2L2	184420387	0.972000	0.33761	0.981000	0.43875	0.924000	0.55760	1.872000	0.39549	1.194000	0.43101	0.655000	0.94253	TCT	MCF2L2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000053524		0.353	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	HGNC	protein_coding	OTTHUMT00000350868.1	383	0.00	0	G	NM_015078		182937693	182937693	-1	no_errors	ENST00000328913	ensembl	human	known	69_37n	missense	253	13.01	38	SNP	0.989	C
MCOLN3	55283	genome.wustl.edu	37	1	85486834	85486834	+	Silent	SNP	G	G	C			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr1:85486834G>C	ENST00000370589.2	-	12	1498	c.1446C>G	c.(1444-1446)ctC>ctG	p.L482L	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Silent_p.L426L|MCOLN3_ENST00000474447.1_5'UTR	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	482					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TGAATGAGTAGAGGTAAATTC	0.343																																						dbGAP											0													81.0	86.0	84.0					1																	85486834		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.1446C>G	1.37:g.85486834G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T4H5|Q5T4H6|Q9NV09	Silent	SNP	pfam_PKD1_2_channel	p.L482	ENST00000370589.2	37	c.1446	CCDS701.1	1																																																																																			MCOLN3	-	pfam_PKD1_2_channel	ENSG00000055732		0.343	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN3	HGNC	protein_coding	OTTHUMT00000027569.2	126	0.00	0	G	NM_018298		85486834	85486834	-1	no_errors	ENST00000302814	ensembl	human	known	69_37n	silent	154	12.50	22	SNP	1.000	C
MGAT5	4249	genome.wustl.edu	37	2	135012084	135012084	+	Missense_Mutation	SNP	G	G	A	rs548835362		TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr2:135012084G>A	ENST00000409645.1	+	2	362	c.110G>A	c.(109-111)cGa>cAa	p.R37Q	MGAT5_ENST00000468758.1_3'UTR|MGAT5_ENST00000281923.2_Missense_Mutation_p.R37Q			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	37					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		ATCCAGCAGCGAACTCAGCCT	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		19733	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													120.0	105.0	110.0					2																	135012084		2203	4300	6503	-	-	-	SO:0001583	missense	0			D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.110G>A	2.37:g.135012084G>A	ENSP00000386377:p.Arg37Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DP70	Missense_Mutation	SNP	NULL	p.R37Q	ENST00000409645.1	37	c.110	CCDS2171.1	2	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704470	0.68615	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	4.88	4.88	0.63580	.	0.067261	0.64402	D	0.000012	T	0.39989	0.1099	N	0.21448	0.665	0.49130	D	0.999756	B	0.18461	0.028	B	0.08055	0.003	T	0.22243	-1.0222	9	0.30078	T	0.28	-7.0292	9.6065	0.39637	0.1271:0.0:0.8729:0.0	.	37	Q09328	MGT5A_HUMAN	Q	37	.	ENSP00000281923:R37Q	R	+	2	0	MGAT5	134728554	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.156000	0.71840	2.677000	0.91161	0.650000	0.86243	CGA	MGAT5	-	NULL	ENSG00000152127		0.507	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT5	HGNC	protein_coding	OTTHUMT00000254584.3	133	0.00	0	G	NM_002410		135012084	135012084	+1	no_errors	ENST00000281923	ensembl	human	known	69_37n	missense	149	12.87	22	SNP	1.000	A
MTF2	22823	genome.wustl.edu	37	1	93594862	93594862	+	Silent	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr1:93594862G>A	ENST00000370298.4	+	11	1306	c.1017G>A	c.(1015-1017)aaG>aaA	p.K339K	MTF2_ENST00000370303.4_Intron|MTF2_ENST00000540243.1_Silent_p.K237K|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000545708.1_Silent_p.K237K	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	339					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		AAATAAAGAAGAAGAAGCATT	0.323																																						dbGAP											0													78.0	81.0	80.0					1																	93594862		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.1017G>A	1.37:g.93594862G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.K339	ENST00000370298.4	37	c.1017	CCDS742.1	1																																																																																			MTF2	-	NULL	ENSG00000143033		0.323	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTF2	HGNC	protein_coding	OTTHUMT00000028075.3	295	0.00	0	G	NM_007358		93594862	93594862	+1	no_errors	ENST00000370298	ensembl	human	known	69_37n	silent	284	10.69	34	SNP	1.000	A
MTHFS	10588	genome.wustl.edu	37	15	80181521	80181521	+	Missense_Mutation	SNP	G	G	C	rs149273610		TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr15:80181521G>C	ENST00000258874.3	-	2	353	c.293C>G	c.(292-294)cCa>cGa	p.P98R	ST20-MTHFS_ENST00000494999.1_5'UTR|ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.P74R|MTHFS_ENST00000559722.1_5'UTR	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	98					formate metabolic process (GO:0015942)|tetrahydrofolate metabolic process (GO:0046653)	cytoplasm (GO:0005737)	5-formyltetrahydrofolate cyclo-ligase activity (GO:0030272)|ATP binding (GO:0005524)|folic acid binding (GO:0005542)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		AATTTCCTCTGGTGATTCTAT	0.468																																						dbGAP											0													178.0	158.0	164.0					15																	80181521		2203	4300	6503	-	-	-	SO:0001583	missense	0			L38928	CCDS10311.1	15q24.3	2014-05-15			ENSG00000136371	ENSG00000136371	6.3.3.2		7437	protein-coding gene	gene with protein product		604197				8522195	Standard	NM_006441		Approved	HsT19268	uc002bex.4	P49914	OTTHUMG00000144174	ENST00000258874.3:c.293C>G	15.37:g.80181521G>C	ENSP00000258874:p.Pro98Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	H3BQ75	Missense_Mutation	SNP	pfam_FTHF_cligase,pirsf_FTHF_cligase,tigrfam_FTHF_cligase	p.P98R	ENST00000258874.3	37	c.293	CCDS10311.1	15	.	.	.	.	.	.	.	.	.	.	G	7.537	0.659895	0.14645	.	.	ENSG00000136371	ENST00000258874	T	0.42513	0.97	5.33	4.41	0.53225	5-formyltetrahydrofolate cyclo-ligase-like domain (1);	0.367991	0.28577	N	0.014846	T	0.40670	0.1126	M	0.68952	2.095	0.09310	N	1	P	0.36577	0.558	B	0.41860	0.368	T	0.27673	-1.0067	10	0.25106	T	0.35	-14.4752	5.8462	0.18667	0.1533:0.0:0.6862:0.1605	.	98	P49914	MTHFS_HUMAN	R	98	ENSP00000258874:P98R	ENSP00000258874:P98R	P	-	2	0	MTHFS	77968576	0.078000	0.21339	0.048000	0.18961	0.535000	0.34838	2.742000	0.47434	2.505000	0.84491	0.655000	0.94253	CCA	MTHFS	-	pfam_FTHF_cligase,pirsf_FTHF_cligase,tigrfam_FTHF_cligase	ENSG00000136371		0.468	MTHFS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFS	HGNC	protein_coding	OTTHUMT00000291374.2	347	0.00	0	G	NM_006441		80181521	80181521	-1	no_errors	ENST00000258874	ensembl	human	known	69_37n	missense	380	13.44	59	SNP	0.003	C
MYH9	4627	genome.wustl.edu	37	22	36745008	36745008	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr22:36745008G>C	ENST00000216181.5	-	2	504	c.274C>G	c.(274-276)Ctc>Gtc	p.L92V	MYH9_ENST00000401701.1_Missense_Mutation_p.L92V	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	92	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTTCGTTGAGGCACGTGAGC	0.577			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													dbGAP		Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0													168.0	130.0	143.0					22																	36745008		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.274C>G	22.37:g.36745008G>C	ENSP00000216181:p.Leu92Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.L92V	ENST00000216181.5	37	c.274	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911303	0.72983	.	.	ENSG00000100345	ENST00000216181;ENST00000401701;ENST00000456729	D;D;D	0.91740	-2.35;-2.35;-2.9	5.32	5.32	0.75619	Myosin head, motor domain (2);	0.000000	0.64402	D	0.000001	D	0.96275	0.8785	M	0.88181	2.935	0.51233	D	0.999919	D;D	0.76494	0.999;0.99	D;D	0.85130	0.997;0.947	D	0.96603	0.9446	10	0.87932	D	0	.	12.3528	0.55157	0.0771:0.0:0.9229:0.0	.	92;92	Q5BKV1;P35579	.;MYH9_HUMAN	V	92	ENSP00000216181:L92V;ENSP00000384631:L92V;ENSP00000414852:L92V	ENSP00000216181:L92V	L	-	1	0	MYH9	35074954	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.770000	0.68873	2.491000	0.84063	0.563000	0.77884	CTC	MYH9	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000100345		0.577	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	92	0.00	0	G	NM_002473		36745008	36745008	-1	no_errors	ENST00000216181	ensembl	human	known	69_37n	missense	66	15.38	12	SNP	1.000	C
NR1H2	7376	genome.wustl.edu	37	19	50837601	50837602	+	Intron	INS	-	-	C			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr19:50837601_50837602insC	ENST00000600978.1	+	2	74				KCNC3_ENST00000474951.1_5'Flank|KCNC3_ENST00000391818.2_5'Flank|NAPSB_ENST00000527780.1_RNA|NR1H2_ENST00000542413.1_Intron			P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2						cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.V333fs*4(1)		endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		ATTAAACCAGACCCCCCCAATG	0.525																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001627	intron_variant	0			U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000600978.1:c.75-3657->C	19.37:g.50837608_50837608dupC		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	RNA	INS	-	NULL	ENST00000600978.1	37	NULL		19																																																																																			NAPSB	-	-	ENSG00000131401		0.525	NR1H2-012	KNOWN	basic	processed_transcript	NAPSB	HGNC	protein_coding	OTTHUMT00000464783.1	21	0.00	0	-			50837601	50837602	-1	no_errors	ENST00000527780	ensembl	human	known	69_37n	rna	18	10.00	2	INS	0.861:0.853	C
NBEA	26960	genome.wustl.edu	37	13	36202288	36202288	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr13:36202288G>A	ENST00000400445.3	+	49	8054	c.7520G>A	c.(7519-7521)cGa>cAa	p.R2507Q	NBEA_ENST00000379939.2_Missense_Mutation_p.R2504Q|NBEA_ENST00000540320.1_Missense_Mutation_p.R2507Q|NBEA_ENST00000379922.3_Missense_Mutation_p.R64Q|NBEA_ENST00000310336.4_Missense_Mutation_p.R2507Q|NBEA_ENST00000537702.1_Missense_Mutation_p.R300Q	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2507	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026, ECO:0000305}.				protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TATAAGCAGCGAGGACCAGAA	0.433																																						dbGAP											0													117.0	111.0	113.0					13																	36202288		1904	4136	6040	-	-	-	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.7520G>A	13.37:g.36202288G>A	ENSP00000383295:p.Arg2507Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.R2507Q	ENST00000400445.3	37	c.7520	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202738	0.79127	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.6	5.6	0.85130	BEACH domain (4);	0.000000	0.85682	D	0.000000	T	0.72953	0.3525	L	0.37750	1.13	0.80722	D	1	P;P;P	0.39060	0.657;0.657;0.486	B;B;B	0.32533	0.093;0.147;0.032	T	0.72590	-0.4247	10	0.33940	T	0.23	.	19.6287	0.95691	0.0:0.0:1.0:0.0	.	2507;64;2504	Q8NFP9;Q8NFP9-2;Q5T321	NBEA_HUMAN;.;.	Q	2507;2507;2504;2507;1134;64;300;64	ENSP00000440951:R2507Q;ENSP00000383295:R2507Q;ENSP00000369271:R2504Q;ENSP00000308534:R2507Q;ENSP00000440233:R300Q;ENSP00000369254:R64Q	ENSP00000308534:R2507Q	R	+	2	0	NBEA	35100288	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.863000	0.87023	2.652000	0.90054	0.563000	0.77884	CGA	NBEA	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom	ENSG00000172915		0.433	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		98	0.00	0	G	NM_015678		36202288	36202288	+1	no_errors	ENST00000310336	ensembl	human	known	69_37n	missense	82	13.54	13	SNP	1.000	A
NCAM1	4684	genome.wustl.edu	37	11	113076824	113076824	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr11:113076824G>A	ENST00000533760.1	+	5	795	c.196G>A	c.(196-198)Gag>Aag	p.E66K	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.E183K|NCAM1_ENST00000316851.7_Missense_Mutation_p.E174K	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	184	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GAAAACAGATGAGGGCACTTA	0.498																																						dbGAP											0													152.0	152.0	152.0					11																	113076824		1986	4173	6159	-	-	-	SO:0001583	missense	0				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.196G>A	11.37:g.113076824G>A	ENSP00000473281:p.Glu66Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,prints_Neural_cell_adh,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E174K	ENST00000533760.1	37	c.520		11	.	.	.	.	.	.	.	.	.	.	G	37	6.082398	0.97267	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.68181	-0.31;-0.31	5.75	5.75	0.90469	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83811	0.5335	.	.	.	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.995;0.999;0.996	D	0.84915	0.0850	9	0.72032	D	0.01	-15.6363	19.9417	0.97165	0.0:0.0:1.0:0.0	.	184;184;184;184;184	P13591-5;P13591-1;P13591;P13591-3;P13591-6	.;.;NCAM1_HUMAN;.;.	K	66;183;174	ENSP00000384055:E183K;ENSP00000318472:E174K	ENSP00000318472:E174K	E	+	1	0	NCAM1	112582034	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.756000	0.98918	2.720000	0.93068	0.655000	0.94253	GAG	NCAM1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000149294		0.498	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	NCAM1	HGNC	protein_coding	OTTHUMT00000394068.2	653	0.00	0	G	NM_000615		113076824	113076824	+1	no_errors	ENST00000316851	ensembl	human	known	69_37n	missense	432	10.74	52	SNP	1.000	A
NCOA3	8202	genome.wustl.edu	37	20	46252812	46252812	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr20:46252812C>A	ENST00000371998.3	+	4	432	c.241C>A	c.(241-243)Caa>Aaa	p.Q81K	NCOA3_ENST00000372004.3_Missense_Mutation_p.Q81K|NCOA3_ENST00000371997.3_Missense_Mutation_p.Q81K|NCOA3_ENST00000341724.6_Missense_Mutation_p.Q81K			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	81	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACAGATACGTCAAATAAAAGA	0.378																																						dbGAP											0													64.0	61.0	62.0					20																	46252812		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.241C>A	20.37:g.46252812C>A	ENSP00000361066:p.Gln81Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd	p.Q81K	ENST00000371998.3	37	c.241	CCDS13407.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.434575	0.96150	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.02395	4.33;4.49;4.49;4.31	6.17	6.17	0.99709	Helix-loop-helix DNA-binding (4);	0.000000	0.85682	D	0.000000	T	0.13756	0.0333	L	0.49350	1.555	0.80722	D	1	D;P;P;P;P	0.76494	0.999;0.751;0.874;0.923;0.874	D;P;P;P;P	0.83275	0.996;0.495;0.709;0.848;0.709	T	0.00019	-1.2358	10	0.72032	D	0.01	-16.9708	20.8794	0.99867	0.0:1.0:0.0:0.0	.	81;85;81;81;81	Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;NCOA3_HUMAN	K	81	ENSP00000342123:Q81K;ENSP00000361073:Q81K;ENSP00000361066:Q81K;ENSP00000361065:Q81K	ENSP00000345671:Q81K	Q	+	1	0	NCOA3	45686219	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CAA	NCOA3	-	superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pirsf_Nuclear_rcpt_coactivator,pfscan_HLH_DNA-bd	ENSG00000124151		0.378	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA3	HGNC	protein_coding	OTTHUMT00000080405.1	146	0.00	0	C	NM_006534		46252812	46252812	+1	no_errors	ENST00000371998	ensembl	human	known	69_37n	missense	154	23.38	47	SNP	1.000	A
OR8D4	338662	genome.wustl.edu	37	11	123777208	123777208	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr11:123777208C>T	ENST00000321355.2	+	1	100	c.70C>T	c.(70-72)Cag>Tag	p.Q24*		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		AGCAGAGCTTCAGCTGCCCCT	0.423																																						dbGAP											0													112.0	107.0	109.0					11																	123777208		2202	4299	6501	-	-	-	SO:0001587	stop_gained	0			AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.70C>T	11.37:g.123777208C>T	ENSP00000325381:p.Gln24*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFE9	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Q24*	ENST00000321355.2	37	c.70	CCDS31698.1	11	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367010	0.82463	.	.	ENSG00000181518	ENST00000321355	.	.	.	5.58	5.58	0.84498	.	0.161503	0.29192	N	0.012874	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	18.3203	0.90236	0.0:1.0:0.0:0.0	.	.	.	.	X	24	.	ENSP00000325381:Q24X	Q	+	1	0	OR8D4	123282418	0.244000	0.23889	0.995000	0.50966	0.597000	0.36814	2.087000	0.41653	2.601000	0.87937	0.655000	0.94253	CAG	OR8D4	-	NULL	ENSG00000181518		0.423	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D4	HGNC	protein_coding	OTTHUMT00000387262.1	538	0.19	1	C	NM_001005197		123777208	123777208	+1	no_errors	ENST00000321355	ensembl	human	known	69_37n	nonsense	399	10.14	45	SNP	0.992	T
PABPC1	26986	genome.wustl.edu	37	8	101719153	101719153	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr8:101719153G>A	ENST00000318607.5	-	10	2537	c.1409C>T	c.(1408-1410)tCt>tTt	p.S470F	PABPC1_ENST00000519004.1_Missense_Mutation_p.S425F|PABPC1_ENST00000522387.1_Missense_Mutation_p.S438F|AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519596.1_Intron	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	470					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			AACCTGTGAAGAAGCTGGTCT	0.403																																						dbGAP											0													86.0	81.0	82.0					8																	101719153		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1409C>T	8.37:g.101719153G>A	ENSP00000313007:p.Ser470Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15097|Q93004	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.S470F	ENST00000318607.5	37	c.1409	CCDS6289.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.5|26.5	4.746356|4.746356	0.89663|0.89663	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000520868;ENST00000517403|ENST00000318607;ENST00000519004;ENST00000522387;ENST00000522658	.|T;T;T;T	.|0.47177	.|1.58;1.49;2.56;0.85	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	T|T	0.50888|0.50888	0.1642|0.1642	M|M	0.67397|0.67397	2.05|2.05	0.47819|0.47819	D|D	0.999528|0.999528	.|B;B;B	.|0.29481	.|0.245;0.001;0.02	.|B;B;B	.|0.31191	.|0.125;0.003;0.042	T|T	0.43734|0.43734	-0.9373|-0.9373	5|10	.|0.26408	.|T	.|0.33	.|.	20.0338|20.0338	0.97549|0.97549	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|438;470;470	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	F|F	3;123|470;425;438;17	.|ENSP00000313007:S470F;ENSP00000429594:S425F;ENSP00000429395:S438F;ENSP00000428840:S17F	.|ENSP00000313007:S470F	L|S	-|-	1|2	0|0	PABPC1|PABPC1	101788329|101788329	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.531000|8.531000	0.90610|0.90610	2.816000|2.816000	0.96949|0.96949	0.650000|0.650000	0.86243|0.86243	CTT|TCT	PABPC1	-	tigrfam_PABP_1234	ENSG00000070756		0.403	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC1	HGNC	protein_coding	OTTHUMT00000380217.1	174	0.00	0	G	NM_002568		101719153	101719153	-1	no_errors	ENST00000318607	ensembl	human	known	69_37n	missense	154	23.76	48	SNP	1.000	A
PAPPA2	60676	genome.wustl.edu	37	1	176671822	176671822	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr1:176671822C>G	ENST00000367662.3	+	9	4480	c.3316C>G	c.(3316-3318)Ctg>Gtg	p.L1106V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1106					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTCGCCTCCTCTGAACCACAT	0.493																																						dbGAP											0													97.0	94.0	95.0					1																	176671822		1965	4145	6110	-	-	-	SO:0001583	missense	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3316C>G	1.37:g.176671822C>G	ENSP00000356634:p.Leu1106Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.L1106V	ENST00000367662.3	37	c.3316	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592246	0.66219	.	.	ENSG00000116183	ENST00000367662	T	0.45668	0.89	5.26	5.26	0.73747	Fibronectin, type III (1);	0.000000	0.64402	D	0.000001	T	0.48484	0.1502	M	0.64404	1.975	0.80722	D	1	D	0.56035	0.974	P	0.51701	0.677	T	0.47032	-0.9148	10	0.44086	T	0.13	-11.1492	9.3166	0.37937	0.0:0.8384:0.0:0.1616	.	1106	Q9BXP8	PAPP2_HUMAN	V	1106	ENSP00000356634:L1106V	ENSP00000356634:L1106V	L	+	1	2	PAPPA2	174938445	1.000000	0.71417	0.885000	0.34714	0.983000	0.72400	2.107000	0.41844	2.444000	0.82710	0.563000	0.77884	CTG	PAPPA2	-	superfamily_Fibronectin_type3	ENSG00000116183		0.493	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	295	0.00	0	C			176671822	176671822	+1	no_errors	ENST00000367662	ensembl	human	known	69_37n	missense	246	10.83	30	SNP	0.997	G
PDE4A	5141	genome.wustl.edu	37	19	10572600	10572600	+	Silent	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr19:10572600G>A	ENST00000352831.6	+	13	1778	c.1668G>A	c.(1666-1668)ctG>ctA	p.L556L	PDE4A_ENST00000440014.2_Silent_p.L495L|PDE4A_ENST00000293683.5_Silent_p.L530L|PDE4A_ENST00000344979.3_Silent_p.L317L|PDE4A_ENST00000592685.1_Silent_p.L534L|PDE4A_ENST00000380702.2_Silent_p.L534L	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	556	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	TGGCTGACCTGAAGACCATGG	0.632																																						dbGAP											0													116.0	97.0	104.0					19																	10572600		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1668G>A	19.37:g.10572600G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.L556	ENST00000352831.6	37	c.1668	CCDS45961.1	19																																																																																			PDE4A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	ENSG00000065989		0.632	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4A	HGNC	protein_coding	OTTHUMT00000451244.1	160	0.00	0	G			10572600	10572600	+1	no_errors	ENST00000352831	ensembl	human	known	69_37n	silent	148	11.90	20	SNP	1.000	A
PGK2	5232	genome.wustl.edu	37	6	49753829	49753829	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr6:49753829C>A	ENST00000304801.3	-	1	1224	c.1072G>T	c.(1072-1074)Gaa>Taa	p.E358*		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	358					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TTCACAATTTCATCCATGAGG	0.473																																						dbGAP											0													145.0	144.0	144.0					6																	49753829		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.1072G>T	6.37:g.49753829C>A	ENSP00000305995:p.Glu358*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6Y8|Q9H107	Nonsense_Mutation	SNP	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase	p.E358*	ENST00000304801.3	37	c.1072	CCDS4930.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.241732	0.95272	.	.	ENSG00000170950	ENST00000304801	.	.	.	4.19	4.19	0.49359	.	0.144416	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-20.6362	8.1204	0.30967	0.0:0.8931:0.0:0.1069	.	.	.	.	X	358	.	ENSP00000305995:E358X	E	-	1	0	PGK2	49861788	1.000000	0.71417	0.997000	0.53966	0.760000	0.43138	2.858000	0.48356	2.619000	0.88677	0.585000	0.79938	GAA	PGK2	-	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase	ENSG00000170950		0.473	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGK2	HGNC	protein_coding	OTTHUMT00000040872.1	714	0.00	0	C			49753829	49753829	-1	no_errors	ENST00000304801	ensembl	human	known	69_37n	nonsense	668	12.09	92	SNP	1.000	A
PIK3CB	5291	genome.wustl.edu	37	3	138474685	138474685	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr3:138474685C>T	ENST00000477593.1	-	3	381	c.308G>A	c.(307-309)aGa>aAa	p.R103K	PIK3CB_ENST00000289153.2_Missense_Mutation_p.R103K			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	103	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	AAGAAAAGGTCTGACATCACA	0.373																																						dbGAP											0													112.0	110.0	111.0					3																	138474685		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.308G>A	3.37:g.138474685C>T	ENSP00000418143:p.Arg103Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNF0|Q24JU2	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ARM-type_fold,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.R103K	ENST00000477593.1	37	c.308	CCDS3104.1	3	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325956	0.60743	.	.	ENSG00000051382	ENST00000477593;ENST00000289153;ENST00000483968	T;T;T	0.74947	-0.89;-0.89;-0.89	5.52	3.73	0.42828	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	T	0.68650	0.3024	L	0.46885	1.475	0.80722	D	1	B	0.29085	0.232	B	0.35607	0.206	T	0.60667	-0.7218	10	0.23302	T	0.38	-13.7883	12.1452	0.54020	0.0:0.8605:0.0:0.1395	.	103	P42338	PK3CB_HUMAN	K	103	ENSP00000418143:R103K;ENSP00000289153:R103K;ENSP00000419857:R103K	ENSP00000289153:R103K	R	-	2	0	PIK3CB	139957375	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.128000	0.64733	0.696000	0.31696	0.585000	0.79938	AGA	PIK3CB	-	pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom	ENSG00000051382		0.373	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CB	HGNC	protein_coding	OTTHUMT00000358019.1	373	0.00	0	C			138474685	138474685	-1	no_errors	ENST00000289153	ensembl	human	known	69_37n	missense	518	11.26	66	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178938934	178938934	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr3:178938934G>A	ENST00000263967.3	+	14	2333	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	726			E -> K (in MCAP). {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.E726K(8)		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)	GAAGAAGGATGAAACACAAAA	0.428		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"""	8	Substitution - Missense(8)	lung(4)|large_intestine(2)|breast(2)											89.0	78.0	82.0					3																	178938934		1917	4118	6035	-	-	-	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.2176G>A	3.37:g.178938934G>A	ENSP00000263967:p.Glu726Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	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.E726K	ENST00000263967.3	37	c.2176	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308869	0.60305	.	.	ENSG00000121879	ENST00000263967	T	0.80653	-1.4	5.67	5.67	0.87782	Protein kinase-like domain (1);	0.166180	0.38778	U	0.001568	T	0.73450	0.3588	L	0.36672	1.1	0.80722	D	1	P	0.46064	0.872	B	0.42738	0.396	T	0.71401	-0.4604	10	0.02654	T	1	-19.3819	19.7612	0.96319	0.0:0.0:1.0:0.0	.	726	P42336	PK3CA_HUMAN	K	726	ENSP00000263967:E726K	ENSP00000263967:E726K	E	+	1	0	PIK3CA	180421628	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.476000	0.97823	2.670000	0.90874	0.655000	0.94253	GAA	PIK3CA	-	superfamily_Kinase-like_dom	ENSG00000121879		0.428	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	128	0.00	0	G			178938934	178938934	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	110	13.39	17	SNP	1.000	A
PIK3R2	5296	genome.wustl.edu	37	19	18274193	18274193	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr19:18274193delT	ENST00000593731.1	+	11	1971	c.1411delT	c.(1411-1413)tccfs	p.S471fs	PIK3R2_ENST00000222254.8_Frame_Shift_Del_p.S471fs			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	471					blood coagulation (GO:0007596)|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)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	CACACGGACCTCCCAGGTACT	0.587																																						dbGAP											0													91.0	77.0	82.0					19																	18274193		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1411delT	19.37:g.18274193delT	ENSP00000471914:p.Ser471fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5EAT5|Q9UPH9	Frame_Shift_Del	DEL	pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.S471fs	ENST00000593731.1	37	c.1411	CCDS12371.1	19																																																																																			PIK3R2	-	NULL	ENSG00000105647		0.587	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	PIK3R2	HGNC	protein_coding	OTTHUMT00000466386.2	29	0.00	0	T	NM_005027		18274193	18274193	+1	no_errors	ENST00000222254	ensembl	human	known	69_37n	frame_shift_del	12	33.33	6	DEL	1.000	-
LRRC7	57554	genome.wustl.edu	37	1	70385341	70385341	+	Intron	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr1:70385341G>A	ENST00000035383.5	+	6	563				LRRC7_ENST00000310961.5_Intron|LRRC7_ENST00000415775.2_Intron|PIN1P1_ENST00000412108.1_RNA	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7							cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GAAGGACTTTGAGTCTCCGGC	0.597																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.534-11849G>A	1.37:g.70385341G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	RNA	SNP	-	NULL	ENST00000035383.5	37	NULL	CCDS645.1	1																																																																																			PIN1P1	-	-	ENSG00000229359		0.597	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIN1P1	HGNC	protein_coding	OTTHUMT00000131261.1	41	0.00	0	G	NM_020794		70385341	70385341	+1	no_errors	ENST00000412108	ensembl	human	known	69_37n	rna	31	11.43	4	SNP	0.990	A
PLCG2	5336	genome.wustl.edu	37	16	81969832	81969832	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr16:81969832C>G	ENST00000359376.3	+	27	3115	c.2901C>G	c.(2899-2901)atC>atG	p.I967M		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	967	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ACAGCATCATCAGACAGAAGC	0.498																																						dbGAP											0													76.0	79.0	78.0					16																	81969832		1956	4141	6097	-	-	-	SO:0001583	missense	0				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2901C>G	16.37:g.81969832C>G	ENSP00000352336:p.Ile967Met	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_Ca-dep,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.I967M	ENST00000359376.3	37	c.2901	CCDS42204.1	16	.	.	.	.	.	.	.	.	.	.	C	6.664	0.491020	0.12702	.	.	ENSG00000197943	ENST00000359376	T	0.54279	0.58	4.79	2.36	0.29203	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.667620	0.16489	N	0.212163	T	0.38665	0.1049	L	0.35414	1.06	0.18873	N	0.999986	B	0.24651	0.108	B	0.27170	0.077	T	0.32824	-0.9892	10	0.56958	D	0.05	.	6.1661	0.20390	0.0:0.6145:0.1801:0.2054	.	967	P16885	PLCG2_HUMAN	M	967	ENSP00000352336:I967M	ENSP00000352336:I967M	I	+	3	3	PLCG2	80527333	0.018000	0.18449	0.792000	0.32020	0.108000	0.19459	0.303000	0.19210	0.969000	0.38237	0.561000	0.74099	ATC	PLCG2	-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pirsf_PLC-gamma,pfscan_PLipase_C_Pinositol-sp_Y	ENSG00000197943		0.498	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCG2	HGNC	protein_coding	OTTHUMT00000432429.1	86	0.00	0	C			81969832	81969832	+1	no_errors	ENST00000359376	ensembl	human	known	69_37n	missense	52	21.21	14	SNP	0.998	G
PTBP3	9991	genome.wustl.edu	37	9	114997156	114997156	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr9:114997156G>A	ENST00000374255.2	-	9	1055	c.908C>T	c.(907-909)tCa>tTa	p.S303L	PTBP3_ENST00000334318.6_Missense_Mutation_p.S306L|PTBP3_ENST00000374257.1_Missense_Mutation_p.S275L|PTBP3_ENST00000458258.1_Missense_Mutation_p.S309L|PTBP3_ENST00000343327.2_Missense_Mutation_p.S208L			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	303					anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										TGCATATGGTGAAGAAATTAT	0.383																																						dbGAP											0													60.0	60.0	60.0					9																	114997156		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"""RNA binding motif (RRM) containing"""	10253	protein-coding gene	gene with protein product		607527	"""regulator of differentiation (in S. pombe) 1"", ""ROD1 regulator of differentiation 1 (S. pombe)"""	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.908C>T	9.37:g.114997156G>A	ENSP00000363373:p.Ser303Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.S309L	ENST00000374255.2	37	c.926	CCDS6784.1	9	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332511	0.60853	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000343327	T;T;T;T;T	0.57595	0.4;0.4;0.39;0.4;1.4	4.74	4.74	0.60224	.	0.435749	0.25164	N	0.032649	T	0.33585	0.0868	N	0.21194	0.64	0.48975	D	0.999739	B;B;B;P;B;B	0.42518	0.003;0.38;0.167;0.782;0.073;0.002	B;B;B;B;B;B	0.35550	0.002;0.205;0.044;0.154;0.043;0.005	T	0.15235	-1.0444	10	0.10902	T	0.67	-4.3737	14.4672	0.67492	0.0:0.0:0.8529:0.1471	.	275;275;208;306;303;309	B1ALY5;O95758-2;B1ALY6;O95758-5;O95758;O95758-4	.;.;.;.;ROD1_HUMAN;.	L	275;306;309;303;208	ENSP00000363375:S275L;ENSP00000334499:S306L;ENSP00000414921:S309L;ENSP00000363373:S303L;ENSP00000340705:S208L	ENSP00000334499:S306L	S	-	2	0	ROD1	114036977	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.100000	0.71473	2.444000	0.82710	0.655000	0.94253	TCA	PTBP3	-	tigrfam_HnRNP-L_PTB	ENSG00000119314		0.383	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP3	HGNC	protein_coding	OTTHUMT00000053679.1	147	0.00	0	G			114997156	114997156	-1	no_errors	ENST00000458258	ensembl	human	known	69_37n	missense	124	12.68	18	SNP	1.000	A
RGS21	431704	genome.wustl.edu	37	1	192335120	192335120	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr1:192335120G>A	ENST00000417209.2	+	5	499	c.325G>A	c.(325-327)Gat>Aat	p.D109N		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	109	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						CAAATGCTTTGATGAGGCTCA	0.368																																						dbGAP											0													94.0	93.0	93.0					1																	192335120		1832	4086	5918	-	-	-	SO:0001583	missense	0			AY643711	CCDS41448.1	1q31.2	2013-09-24	2007-08-14		ENSG00000253148	ENSG00000253148		"""Regulators of G-protein signaling"""	26839	protein-coding gene	gene with protein product		612407	"""regulator of G-protein signalling 21"""			15066150	Standard	NM_001039152		Approved		uc001gsh.3	Q2M5E4	OTTHUMG00000035594	ENST00000417209.2:c.325G>A	1.37:g.192335120G>A	ENSP00000428343:p.Asp109Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.D109N	ENST00000417209.2	37	c.325	CCDS41448.1	1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742630	0.69418	.	.	ENSG00000253148	ENST00000417209	T	0.02015	4.5	5.51	5.51	0.81932	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.34853	U	0.003622	T	0.07503	0.0189	M	0.71206	2.165	0.47009	D	0.999283	P	0.34955	0.477	B	0.43251	0.413	T	0.03473	-1.1033	10	0.59425	D	0.04	.	17.9626	0.89090	0.0:0.0:1.0:0.0	.	109	Q2M5E4	RGS21_HUMAN	N	109	ENSP00000428343:D109N	ENSP00000428343:D109N	D	+	1	0	RGS21	190601743	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.649000	0.54417	2.577000	0.86979	0.491000	0.48974	GAT	RGS21	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	ENSG00000253148		0.368	RGS21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS21	HGNC	protein_coding	OTTHUMT00000086387.2	459	0.00	0	G			192335120	192335120	+1	no_errors	ENST00000417209	ensembl	human	known	69_37n	missense	346	14.36	58	SNP	1.000	A
ROBO1	6091	genome.wustl.edu	37	3	78666819	78666819	+	Silent	SNP	C	C	G			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr3:78666819C>G	ENST00000464233.1	-	27	4361	c.4248G>C	c.(4246-4248)ctG>ctC	p.L1416L	ROBO1_ENST00000436010.2_Silent_p.L1377L|ROBO1_ENST00000467549.1_Silent_p.L1316L|ROBO1_ENST00000495273.1_Silent_p.L1371L	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1416					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GTGCTACTTTCAGACCAGCAT	0.493																																						dbGAP											0													70.0	71.0	70.0					3																	78666819		1972	4154	6126	-	-	-	SO:0001819	synonymous_variant	0			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4248G>C	3.37:g.78666819C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L1416	ENST00000464233.1	37	c.4248	CCDS54611.1	3																																																																																			ROBO1	-	NULL	ENSG00000169855		0.493	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	232	0.00	0	C	NM_002941		78666819	78666819	-1	no_errors	ENST00000464233	ensembl	human	known	69_37n	silent	162	15.18	29	SNP	0.971	G
RPL26	6154	genome.wustl.edu	37	17	8285480	8285480	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr17:8285480C>T	ENST00000584164.1	-	2	540	c.149G>A	c.(148-150)cGa>cAa	p.R50Q	RPL26_ENST00000293842.5_Missense_Mutation_p.R50Q|RPL26_ENST00000583011.1_Missense_Mutation_p.R50Q|RPL26_ENST00000578812.1_Missense_Mutation_p.R50Q|RPL26_ENST00000585176.1_Intron|RP11-849F2.5_ENST00000585181.1_RNA|RPL26_ENST00000582556.1_Missense_Mutation_p.R50Q|RP11-849F2.5_ENST00000579904.1_RNA|RP11-849F2.7_ENST00000582471.1_Missense_Mutation_p.R50Q			P61254	RL26_HUMAN	ribosomal protein L26	50					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			skin(1)|urinary_tract(1)	2						ATCATCCTTTCGGATGGGCAT	0.438																																						dbGAP											0													164.0	144.0	151.0					17																	8285480		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11142.1	17p13	2011-04-06			ENSG00000161970	ENSG00000161970		"""L ribosomal proteins"""	10327	protein-coding gene	gene with protein product		603704				8479925	Standard	XM_005256749		Approved	L26	uc002glh.1	P61254	OTTHUMG00000108191	ENST00000584164.1:c.149G>A	17.37:g.8285480C>T	ENSP00000463784:p.Arg50Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4F0|D3DTR8|Q02877|Q6IPY2	Missense_Mutation	SNP	pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L26/L24P_euk/arc	p.R50Q	ENST00000584164.1	37	c.149	CCDS11142.1	17	.	.	.	.	.	.	.	.	.	.	C	18.77	3.693881	0.68386	.	.	ENSG00000161970	ENST00000293842	.	.	.	5.08	5.08	0.68730	KOW (1);Translation protein SH3-like (1);Ribosomal protein L24, SH3-like (1);	0.000000	0.85682	D	0.000000	T	0.66781	0.2824	M	0.65498	2.005	0.80722	D	1	B	0.19073	0.033	B	0.17098	0.017	T	0.66720	-0.5852	9	0.66056	D	0.02	-2.0254	16.3071	0.82852	0.0:1.0:0.0:0.0	.	50	P61254	RL26_HUMAN	Q	50	.	ENSP00000293842:R50Q	R	-	2	0	RPL26	8226205	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.736000	0.84948	2.515000	0.84797	0.579000	0.79373	CGA	RPL26	-	superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L26/L24P_euk/arc	ENSG00000161970		0.438	RPL26-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL26	HGNC	protein_coding	OTTHUMT00000442322.1	129	0.00	0	C	NM_000987		8285480	8285480	-1	no_errors	ENST00000293842	ensembl	human	known	69_37n	missense	90	13.46	14	SNP	1.000	T
RYR1	6261	genome.wustl.edu	37	19	38966090	38966090	+	Splice_Site	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr19:38966090G>A	ENST00000359596.3	+	29	4293	c.4293G>A	c.(4291-4293)acG>acA	p.T1431T	RYR1_ENST00000360985.3_Splice_Site_p.T1431T|RYR1_ENST00000355481.4_Splice_Site_p.T1431T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1431	6 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)	ACACCACCACGGTGTGGACCA	0.602																																						dbGAP											0													60.0	49.0	53.0					19																	38966090		2203	4300	6503	-	-	-	SO:0001630	splice_region_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.4293+1G>A	19.37:g.38966090G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	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.T1431	ENST00000359596.3	37	c.4293	CCDS33011.1	19																																																																																			RYR1	-	pfam_SPRY_rcpt,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000196218		0.602	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	108	0.00	0	G		Silent	38966090	38966090	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	silent	90	10.00	10	SNP	1.000	A
SEC23IP	11196	genome.wustl.edu	37	10	121658202	121658202	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr10:121658202G>A	ENST00000369075.3	+	2	499	c.427G>A	c.(427-429)Ggt>Agt	p.G143S	SEC23IP_ENST00000543134.1_Intron	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	143	Interaction with SEC23A.|Pro-rich.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GGCTCAACCTGGTGCTCCACC	0.478																																						dbGAP											0													147.0	127.0	133.0					10																	121658202		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.427G>A	10.37:g.121658202G>A	ENSP00000358071:p.Gly143Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	pfam_DDHD,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD	p.G143S	ENST00000369075.3	37	c.427	CCDS7618.1	10	.	.	.	.	.	.	.	.	.	.	G	4.572	0.106179	0.08780	.	.	ENSG00000107651	ENST00000369075	D	0.96745	-4.11	5.44	4.43	0.53597	.	0.283130	0.42294	D	0.000736	D	0.86619	0.5976	N	0.10733	0.035	0.25277	N	0.989464	B	0.02656	0.0	B	0.04013	0.001	T	0.72931	-0.4142	10	0.05351	T	0.99	-8.017	6.1956	0.20548	0.3073:0.0:0.6927:0.0	.	143	Q9Y6Y8	S23IP_HUMAN	S	143	ENSP00000358071:G143S	ENSP00000358071:G143S	G	+	1	0	SEC23IP	121648192	0.992000	0.36948	0.993000	0.49108	0.738000	0.42128	2.331000	0.43894	2.546000	0.85860	0.655000	0.94253	GGT	SEC23IP	-	NULL	ENSG00000107651		0.478	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC23IP	HGNC	protein_coding	OTTHUMT00000050688.1	685	0.29	2	G			121658202	121658202	+1	no_errors	ENST00000369075	ensembl	human	known	69_37n	missense	768	12.41	109	SNP	0.284	A
SERPINE3	647174	genome.wustl.edu	37	13	51915321	51915321	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr13:51915321G>A	ENST00000521255.1	+	1	154	c.94G>A	c.(94-96)Gag>Aag	p.E32K	SERPINE3_ENST00000524365.1_Missense_Mutation_p.E32K|SERPINE3_ENST00000400389.4_Missense_Mutation_p.E32K	NM_001101320.1	NP_001094790.1	A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	32					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(2)	2						GCTGAAGACTGAGTTTGCACT	0.542																																						dbGAP											0													112.0	113.0	113.0					13																	51915321		2114	4246	6360	-	-	-	SO:0001583	missense	0			AX772926	CCDS53870.1	13q14.3	2014-02-18			ENSG00000253309	ENSG00000253309		"""Serine (or cysteine) peptidase inhibitors"""	24774	protein-coding gene	gene with protein product						24172014	Standard	NM_001101320		Approved		uc001vfh.2	A8MV23	OTTHUMG00000016943	ENST00000521255.1:c.94G>A	13.37:g.51915321G>A	ENSP00000428316:p.Glu32Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1V8P3	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.E32K	ENST00000521255.1	37	c.94	CCDS53870.1	13	.	.	.	.	.	.	.	.	.	.	G	8.977	0.974276	0.18736	.	.	ENSG00000253309	ENST00000524365;ENST00000419898;ENST00000521255;ENST00000400389	D;D;D	0.83992	-1.79;-1.79;-1.79	4.34	2.53	0.30540	Serpin domain (2);	0.633028	0.13351	U	0.394402	T	0.82010	0.4944	M	0.74258	2.255	0.09310	N	0.999998	P;P	0.43662	0.814;0.811	B;B	0.43838	0.402;0.433	T	0.70890	-0.4749	10	0.37606	T	0.19	.	7.9444	0.29978	0.086:0.3019:0.6121:0.0	.	32;32	A8MV23-2;A8MV23	.;SERP3_HUMAN	K	32	ENSP00000430755:E32K;ENSP00000428316:E32K;ENSP00000441468:E32K	ENSP00000441468:E32K	E	+	1	0	SERPINE3	50813322	0.866000	0.29940	0.231000	0.23993	0.036000	0.12997	1.221000	0.32503	1.033000	0.39918	0.563000	0.77884	GAG	SERPINE3	-	pfam_Sepin_dom,superfamily_Sepin_dom	ENSG00000253309		0.542	SERPINE3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SERPINE3	HGNC	protein_coding	OTTHUMT00000045021.2	304	0.00	0	G	NM_001101320		51915321	51915321	+1	no_errors	ENST00000521255	ensembl	human	known	69_37n	missense	273	10.20	31	SNP	0.177	A
SKIV2L	6499	genome.wustl.edu	37	6	31931758	31931758	+	Silent	SNP	C	C	T			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr6:31931758C>T	ENST00000375394.2	+	16	1829	c.1716C>T	c.(1714-1716)ttC>ttT	p.F572F	SKIV2L_ENST00000544581.1_Silent_p.F379F	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	572					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TGGTGGTGTTCACCTTCTCCC	0.642																																						dbGAP											0													142.0	159.0	153.0					6																	31931758		1510	2708	4218	-	-	-	SO:0001819	synonymous_variant	0				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1716C>T	6.37:g.31931758C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O15005|Q12902|Q15476|Q5ST66	Silent	SNP	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.F572	ENST00000375394.2	37	c.1716	CCDS4731.1	6																																																																																			SKIV2L	-	pirsf_RNA_helicase_ATP-dep_SK12/DOB1	ENSG00000204351		0.642	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L	HGNC	protein_coding	OTTHUMT00000076264.3	93	0.00	0	C			31931758	31931758	+1	no_errors	ENST00000375394	ensembl	human	known	69_37n	silent	77	15.38	14	SNP	1.000	T
SLC5A8	160728	genome.wustl.edu	37	12	101555848	101555848	+	Silent	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr12:101555848G>A	ENST00000536262.2	-	13	2092	c.1534C>T	c.(1534-1536)Ctg>Ttg	p.L512L		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTATCCATCAGTGGAGTCCTA	0.378																																					GBM(60;420 1056 13605 22380 47675)	dbGAP											0													149.0	149.0	149.0					12																	101555848		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1534C>T	12.37:g.101555848G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.L512	ENST00000536262.2	37	c.1534	CCDS9080.1	12																																																																																			SLC5A8	-	NULL	ENSG00000256870		0.378	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A8	HGNC	protein_coding	OTTHUMT00000409401.1	510	0.00	0	G	NM_145913		101555848	101555848	-1	no_errors	ENST00000536262	ensembl	human	known	69_37n	silent	437	13.47	68	SNP	0.211	A
SLC8A1	6546	genome.wustl.edu	37	2	40402401	40402401	+	Splice_Site	SNP	C	C	T			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr2:40402401C>T	ENST00000403092.1	-	4	1969	c.1936G>A	c.(1936-1938)Ggt>Agt	p.G646S	SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000406785.2_Intron|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Intron|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405901.3_Splice_Site_p.G646S|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000332839.4_Splice_Site_p.G646S|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_Splice_Site_p.G646S|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	646					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AAATGCTTACCAAGCTCATTC	0.358																																						dbGAP											0													72.0	71.0	71.0					2																	40402401		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1936+1G>A	2.37:g.40402401C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_N,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	p.G646S	ENST00000403092.1	37	c.1936	CCDS1806.1	2	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302431	0.60195	.	.	ENSG00000183023	ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000332839	T;T;T;T	0.26518	1.73;1.77;1.73;1.77	5.66	5.66	0.87406	.	0.480492	0.23016	N	0.052903	T	0.26412	0.0645	L	0.48642	1.525	0.80722	D	1	B;B	0.18166	0.026;0.015	B;B	0.20767	0.015;0.031	T	0.03051	-1.1078	9	.	.	.	.	17.247	0.87031	0.0:1.0:0.0:0.0	.	646;646	F6VPY9;P32418	.;NAC1_HUMAN	S	646	ENSP00000440727:G646S;ENSP00000384763:G646S;ENSP00000385678:G646S;ENSP00000332931:G646S	.	G	-	1	0	SLC8A1	40255905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.411000	0.59781	2.682000	0.91365	0.650000	0.86243	GGT	SLC8A1	-	tigrfam_Na_Ca_Ex	ENSG00000183023		0.358	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	HGNC	protein_coding	OTTHUMT00000326065.1	253	0.00	0	C	NM_021097	Missense_Mutation	40402401	40402401	-1	no_errors	ENST00000332839	ensembl	human	known	69_37n	missense	166	11.23	21	SNP	1.000	T
SNX4	8723	genome.wustl.edu	37	3	125216188	125216188	+	Silent	SNP	C	C	T			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr3:125216188C>T	ENST00000251775.4	-	5	618	c.594G>A	c.(592-594)ctG>ctA	p.L198L	SNX4_ENST00000473417.1_5'UTR|SNX4_ENST00000536067.1_Silent_p.L53L	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	198					endocytic recycling (GO:0032456)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|early endosome membrane (GO:0031901)|membrane (GO:0016020)|protein complex (GO:0043234)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TTCTTACCTTCAGCTGAAACC	0.328																																						dbGAP											0													60.0	60.0	60.0					3																	125216188		2196	4293	6489	-	-	-	SO:0001819	synonymous_variant	0			AF065485	CCDS3032.1	3q21.2	2014-02-12			ENSG00000114520	ENSG00000114520		"""Sorting nexins"""	11175	protein-coding gene	gene with protein product		605931				9819414	Standard	NM_003794		Approved	ATG24B	uc003eib.4	O95219	OTTHUMG00000159575	ENST00000251775.4:c.594G>A	3.37:g.125216188C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMH0|B4DQV4|D3DNA3	Silent	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.L198	ENST00000251775.4	37	c.594	CCDS3032.1	3																																																																																			SNX4	-	NULL	ENSG00000114520		0.328	SNX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX4	HGNC	protein_coding	OTTHUMT00000356299.1	83	0.00	0	C	NM_003794		125216188	125216188	-1	no_errors	ENST00000251775	ensembl	human	known	69_37n	silent	112	11.81	15	SNP	0.918	T
STK31	56164	genome.wustl.edu	37	7	23827616	23827616	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr7:23827616G>T	ENST00000355870.3	+	21	2624	c.2505G>T	c.(2503-2505)atG>atT	p.M835I	STK31_ENST00000354639.3_Missense_Mutation_p.M812I|STK31_ENST00000433467.2_Missense_Mutation_p.M835I|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.M812I	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	835	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TAAAGGTCATGAAAGGTGTTG	0.353																																						dbGAP											0													134.0	128.0	130.0					7																	23827616		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2505G>T	7.37:g.23827616G>T	ENSP00000348132:p.Met835Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	pfam_Tudor,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_cat_dom	p.M835I	ENST00000355870.3	37	c.2505	CCDS5386.1	7	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281901	0.80692	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.72942	-0.7;2.24;-0.7;-0.7	5.84	5.84	0.93424	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73745	0.3626	N	0.12182	0.205	0.53688	D	0.999974	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.81914	0.995;0.992;0.973	T	0.76266	-0.3022	10	0.45353	T	0.12	-16.9419	19.7486	0.96260	0.0:0.0:1.0:0.0	.	835;835;835	B4DZ06;A4D159;Q9BXU1	.;.;STK31_HUMAN	I	835;835;812;812	ENSP00000348132:M835I;ENSP00000411852:M835I;ENSP00000346660:M812I;ENSP00000406146:M812I	ENSP00000346660:M812I	M	+	3	0	STK31	23794141	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.514000	0.81750	2.764000	0.94973	0.650000	0.86243	ATG	STK31	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000196335		0.353	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK31	HGNC	protein_coding	OTTHUMT00000214036.2	300	0.00	0	G	NM_031414		23827616	23827616	+1	no_errors	ENST00000355870	ensembl	human	known	69_37n	missense	259	11.00	32	SNP	1.000	T
SUV420H1	51111	genome.wustl.edu	37	11	67939066	67939066	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr11:67939066G>A	ENST00000304363.4	-	7	1117	c.764C>T	c.(763-765)tCc>tTc	p.S255F	SUV420H1_ENST00000402789.1_Missense_Mutation_p.S255F|SUV420H1_ENST00000405515.1_Missense_Mutation_p.S255F|SUV420H1_ENST00000402185.2_Missense_Mutation_p.S232F|SUV420H1_ENST00000401547.2_Missense_Mutation_p.S255F	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	255	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTTCCTTGTGGAGTACATGAC	0.448																																						dbGAP											0													129.0	127.0	128.0					11																	67939066		2200	4294	6494	-	-	-	SO:0001583	missense	0			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.764C>T	11.37:g.67939066G>A	ENSP00000305899:p.Ser255Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.S255F	ENST00000304363.4	37	c.764	CCDS31623.1	11	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019238	0.93462	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185	D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67	5.73	5.73	0.89815	SET domain (2);	0.157828	0.64402	D	0.000015	D	0.88596	0.6479	L	0.41824	1.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.997;0.999	D;D;D;D	0.97110	1.0;1.0;0.994;0.967	D	0.88302	0.2950	10	0.59425	D	0.04	-15.5039	20.2699	0.98469	0.0:0.0:1.0:0.0	.	232;255;255;255	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	F	255;255;255;255;232	ENSP00000305899:S255F;ENSP00000385965:S255F;ENSP00000385640:S255F;ENSP00000385005:S255F;ENSP00000384724:S232F	ENSP00000305899:S255F	S	-	2	0	SUV420H1	67695642	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.854000	0.98071	0.655000	0.94253	TCC	SUV420H1	-	pfam_SET_dom,smart_SET_dom	ENSG00000110066		0.448	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV420H1	HGNC	protein_coding	OTTHUMT00000318319.1	116	0.00	0	G	NM_017635		67939066	67939066	-1	no_errors	ENST00000304363	ensembl	human	known	69_37n	missense	140	11.32	18	SNP	1.000	A
SYMPK	8189	genome.wustl.edu	37	19	46341874	46341874	+	Splice_Site	SNP	C	C	G			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr19:46341874C>G	ENST00000245934.7	-	10	1332		c.e10-1			NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin						cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		AGGTTGGGCTCTGGGATGAGG	0.627																																						dbGAP											0													44.0	42.0	43.0					19																	46341874		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1088-1G>C	19.37:g.46341874C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O00521|O00689|O00733|Q59GT5|Q8N2U5	Splice_Site	SNP	-	e9-1	ENST00000245934.7	37	c.1088-1	CCDS12676.2	19	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251584	0.80135	.	.	ENSG00000125755	ENST00000245934	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7724	0.88496	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYMPK	51033714	1.000000	0.71417	0.999000	0.59377	0.820000	0.46376	6.591000	0.74090	2.798000	0.96311	0.650000	0.86243	.	SYMPK	-	-	ENSG00000125755		0.627	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYMPK	HGNC	protein_coding	OTTHUMT00000316581.1	68	0.00	0	C	NM_004819	Intron	46341874	46341874	-1	no_errors	ENST00000245934	ensembl	human	known	69_37n	splice_site	59	20.27	15	SNP	1.000	G
SYNE2	23224	genome.wustl.edu	37	14	64669610	64669610	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr14:64669610G>C	ENST00000344113.4	+	100	18342	c.18130G>C	c.(18130-18132)Gag>Cag	p.E6044Q	SYNE2_ENST00000555022.1_5'Flank|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6006Q|SYNE2_ENST00000357395.3_Missense_Mutation_p.E2429Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2429Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2678Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6044Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6044					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATTGAGTCTGAGCTTTCCAA	0.468																																						dbGAP											0													147.0	129.0	135.0					14																	64669610		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18130G>C	14.37:g.64669610G>C	ENSP00000341781:p.Glu6044Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E6044Q	ENST00000344113.4	37	c.18130	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320282	0.81469	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000556906	T;T;T;T;T;T;T	0.50548	0.74;1.21;0.74;0.74;1.21;1.21;1.21	5.93	5.93	0.95920	.	0.000000	0.52532	D	0.000080	T	0.62829	0.2460	L	0.38531	1.155	0.80722	D	1	D;D;D;D;D	0.89917	0.993;0.998;1.0;0.998;1.0	D;D;D;D;D	0.87578	0.986;0.98;0.998;0.996;0.994	T	0.61431	-0.7064	10	0.56958	D	0.05	.	20.3409	0.98764	0.0:0.0:1.0:0.0	.	2429;432;6006;6044;6044	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	Q	6044;2429;6044;6006;6012;2678;2429;14	ENSP00000350719:E6044Q;ENSP00000349969:E2429Q;ENSP00000341781:E6044Q;ENSP00000452570:E6006Q;ENSP00000450831:E2678Q;ENSP00000378249:E2429Q;ENSP00000452298:E14Q	ENSP00000261678:E6012Q	E	+	1	0	SYNE2	63739363	1.000000	0.71417	0.990000	0.47175	0.276000	0.26787	9.869000	0.99810	2.814000	0.96858	0.655000	0.94253	GAG	SYNE2	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000054654		0.468	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	214	0.00	0	G	NM_182914		64669610	64669610	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	missense	213	12.35	30	SNP	1.000	C
TAPBPL	55080	genome.wustl.edu	37	12	6567931	6567931	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr12:6567931G>A	ENST00000266556.7	+	5	1190	c.1025G>A	c.(1024-1026)gGa>gAa	p.G342E	TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	342	Ig-like C1-type.				negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						GAGCTGGGTGGATCCCCAGCC	0.602																																						dbGAP											0													112.0	99.0	104.0					12																	6567931		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001005	CCDS8546.1	12p13.31	2013-01-11						"""Immunoglobulin superfamily / C1-set domain containing"""	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.1025G>A	12.37:g.6567931G>A	ENSP00000266556:p.Gly342Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NWB8	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like	p.G342E	ENST00000266556.7	37	c.1025	CCDS8546.1	12	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628206	0.28978	.	.	ENSG00000139192	ENST00000266556	T	0.22945	1.93	5.22	4.27	0.50696	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.329359	0.35677	N	0.003046	T	0.26593	0.0650	L	0.42245	1.32	0.09310	N	0.999998	B	0.29136	0.234	B	0.37047	0.24	T	0.25433	-1.0132	10	0.87932	D	0	-3.1024	11.2697	0.49131	0.0:0.1844:0.8156:0.0	.	342	Q9BX59	TPSNR_HUMAN	E	342	ENSP00000266556:G342E	ENSP00000266556:G342E	G	+	2	0	TAPBPL	6438192	0.010000	0.17322	0.363000	0.25875	0.403000	0.30841	1.835000	0.39181	2.603000	0.88011	0.650000	0.86243	GGA	TAPBPL	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like	ENSG00000139192		0.602	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAPBPL	HGNC	protein_coding	OTTHUMT00000399263.1	67	0.00	0	G	NM_018009		6567931	6567931	+1	no_errors	ENST00000266556	ensembl	human	known	69_37n	missense	62	12.68	9	SNP	0.216	A
TCF4	6925	genome.wustl.edu	37	18	52896160	52896160	+	Silent	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr18:52896160G>A	ENST00000356073.4	-	18	2396	c.1785C>T	c.(1783-1785)ctC>ctT	p.L595L	TCF4_ENST00000564228.1_Silent_p.L524L|TCF4_ENST00000566286.1_Silent_p.L592L|TCF4_ENST00000544241.2_Silent_p.L528L|TCF4_ENST00000537578.1_Silent_p.L575L|TCF4_ENST00000568740.1_Silent_p.L570L|TCF4_ENST00000566279.1_Silent_p.L539L|TCF4_ENST00000568673.1_Silent_p.L575L|TCF4_ENST00000537856.3_Silent_p.L465L|TCF4_ENST00000543082.1_Silent_p.L553L|TCF4_ENST00000561992.1_Silent_p.L465L|TCF4_ENST00000570287.2_Silent_p.L435L|TCF4_ENST00000398339.1_Silent_p.L701L|TCF4_ENST00000570177.2_Silent_p.L465L|TCF4_ENST00000354452.3_Silent_p.L599L|TCF4_ENST00000564403.2_Silent_p.L605L|TCF4_ENST00000567880.1_Silent_p.L535L|TCF4_ENST00000561831.3_Silent_p.L435L|TCF4_ENST00000540999.1_Silent_p.L571L|TCF4_ENST00000565018.2_Silent_p.L599L|TCF4_ENST00000457482.3_Silent_p.L439L|TCF4_ENST00000564999.1_Silent_p.L595L	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	595	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TGTCACTCTTGAGGTGGAGCT	0.617																																						dbGAP											0													110.0	95.0	100.0					18																	52896160		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1785C>T	18.37:g.52896160G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Silent	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.L701	ENST00000356073.4	37	c.2103	CCDS11960.1	18																																																																																			TCF4	-	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	ENSG00000196628		0.617	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	TCF4	HGNC	protein_coding	OTTHUMT00000256014.1	122	0.00	0	G	NM_003199		52896160	52896160	-1	no_errors	ENST00000398339	ensembl	human	known	69_37n	silent	122	11.59	16	SNP	1.000	A
TET1	80312	genome.wustl.edu	37	10	70333675	70333675	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr10:70333675C>T	ENST00000373644.4	+	2	1789	c.1580C>T	c.(1579-1581)tCa>tTa	p.S527L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	527					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTCCATGCTTCACTGGGTATA	0.493																																						dbGAP											0													70.0	63.0	65.0					10																	70333675		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.1580C>T	10.37:g.70333675C>T	ENSP00000362748:p.Ser527Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.S527L	ENST00000373644.4	37	c.1580	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	C	3.683	-0.065136	0.07273	.	.	ENSG00000138336	ENST00000373644	T	0.08193	3.12	5.31	1.92	0.25849	.	2.149120	0.02458	N	0.086329	T	0.07638	0.0192	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32428	-0.9907	10	0.39692	T	0.17	.	7.3859	0.26882	0.0:0.6253:0.0:0.3747	.	527	Q8NFU7	TET1_HUMAN	L	527	ENSP00000362748:S527L	ENSP00000362748:S527L	S	+	2	0	TET1	70003681	0.001000	0.12720	0.000000	0.03702	0.274000	0.26718	0.747000	0.26290	0.605000	0.29947	0.305000	0.20034	TCA	TET1	-	NULL	ENSG00000138336		0.493	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	124	0.00	0	C	NM_030625		70333675	70333675	+1	no_errors	ENST00000373644	ensembl	human	known	69_37n	missense	151	12.14	21	SNP	0.000	T
TET1	80312	genome.wustl.edu	37	10	70451292	70451292	+	Silent	SNP	C	C	G	rs202159891		TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr10:70451292C>G	ENST00000373644.4	+	12	6341	c.6132C>G	c.(6130-6132)ctC>ctG	p.L2044L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2044	2-oxoglutarate binding. {ECO:0000250}.				chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CAACCCGCCTCTCCCTTGTCT	0.473																																						dbGAP											0													59.0	60.0	60.0					10																	70451292		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.6132C>G	10.37:g.70451292C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.L2044	ENST00000373644.4	37	c.6132	CCDS7281.1	10																																																																																			TET1	-	NULL	ENSG00000138336		0.473	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	223	0.00	0	C	NM_030625		70451292	70451292	+1	no_errors	ENST00000373644	ensembl	human	known	69_37n	silent	212	12.35	30	SNP	1.000	G
TGIF2	60436	genome.wustl.edu	37	20	35207199	35207199	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr20:35207199G>A	ENST00000373874.2	+	2	221	c.22G>A	c.(22-24)Gag>Aag	p.E8K	RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Missense_Mutation_p.E8K|TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.E8K	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	8					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway (GO:0038092)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TGATCTAGGTGAGGACGAAGG	0.602																																						dbGAP											0													96.0	91.0	93.0					20																	35207199		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB042646	CCDS13278.1	20q11.23	2012-12-12	2007-02-07		ENSG00000118707	ENSG00000118707		"""Homeoboxes / TALE class"""	15764	protein-coding gene	gene with protein product		607294	"""TGFB-induced factor 2 (TALE family homeobox)"""			11006116	Standard	NM_021809		Approved		uc021wcv.1	Q9GZN2	OTTHUMG00000172332	ENST00000373874.2:c.22G>A	20.37:g.35207199G>A	ENSP00000362981:p.Glu8Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9U3|E1P5T9|H0YNI0	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E8K	ENST00000373874.2	37	c.22	CCDS13278.1	20	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333457	0.60853	.	.	ENSG00000118707	ENST00000373874;ENST00000373872	T;T	0.66638	-0.22;-0.22	5.01	5.01	0.66863	.	1.125180	0.06682	N	0.768187	T	0.63510	0.2517	N	0.22421	0.69	0.26135	N	0.980362	D	0.53151	0.958	P	0.47528	0.549	T	0.58047	-0.7705	10	0.30854	T	0.27	-22.8686	15.8254	0.78703	0.0:0.0:1.0:0.0	.	8	Q9GZN2	TGIF2_HUMAN	K	8	ENSP00000362981:E8K;ENSP00000362979:E8K	ENSP00000362979:E8K	E	+	1	0	TGIF2	34640613	1.000000	0.71417	0.550000	0.28217	0.462000	0.32619	7.610000	0.82949	2.316000	0.78162	0.561000	0.74099	GAG	TGIF2	-	NULL	ENSG00000118707		0.602	TGIF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TGIF2	HGNC	protein_coding	OTTHUMT00000079004.2	86	0.00	0	G	NM_021809		35207199	35207199	+1	no_errors	ENST00000373872	ensembl	human	known	69_37n	missense	105	16.67	21	SNP	0.981	A
TGM2	7052	genome.wustl.edu	37	20	36776435	36776435	+	Silent	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr20:36776435G>A	ENST00000361475.2	-	5	782	c.609C>T	c.(607-609)ttC>ttT	p.F203F	TGM2_ENST00000536724.1_Silent_p.F143F|TGM2_ENST00000536701.1_Silent_p.F122F	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	203					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CGTTCTTCAGGAACTTGGGGT	0.592																																						dbGAP											0													51.0	48.0	49.0					20																	36776435		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.609C>T	20.37:g.36776435G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.F203	ENST00000361475.2	37	c.609	CCDS13302.1	20																																																																																			TGM2	-	NULL	ENSG00000198959		0.592	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM2	HGNC	protein_coding	OTTHUMT00000079151.2	31	0.00	0	G	NM_198951		36776435	36776435	-1	no_errors	ENST00000361475	ensembl	human	known	69_37n	silent	23	17.86	5	SNP	0.997	A
TMEM108	66000	genome.wustl.edu	37	3	133098943	133098943	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr3:133098943G>C	ENST00000321871.6	+	4	598	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	TMEM108_ENST00000515826.1_Missense_Mutation_p.E130Q|TMEM108_ENST00000393130.3_Missense_Mutation_p.E130Q|TMEM108_ENST00000508711.1_Intron	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	130	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTCCAAGCCAGAGGGCCGCCC	0.687																																						dbGAP											0													34.0	34.0	34.0					3																	133098943		2202	4287	6489	-	-	-	SO:0001583	missense	0			AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.388G>C	3.37:g.133098943G>C	ENSP00000324651:p.Glu130Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	NULL	p.E130Q	ENST00000321871.6	37	c.388	CCDS33858.1	3	.	.	.	.	.	.	.	.	.	.	G	8.616	0.890357	0.17613	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000514894;ENST00000512662;ENST00000512137;ENST00000515826;ENST00000510183	T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14	3.32	2.44	0.29823	.	0.278269	0.26086	N	0.026428	T	0.65760	0.2722	L	0.57536	1.79	0.09310	N	1	D;D	0.76494	0.999;0.99	D;P	0.83275	0.996;0.767	T	0.52094	-0.8621	10	0.32370	T	0.25	-16.3945	6.7137	0.23292	0.1309:0.0:0.8691:0.0	.	130;130	E9PB58;Q6UXF1	.;TM108_HUMAN	Q	130;130;81;81;130;130;130	ENSP00000324651:E130Q;ENSP00000376838:E130Q;ENSP00000422072:E81Q;ENSP00000427447:E81Q;ENSP00000426301:E130Q;ENSP00000423338:E130Q;ENSP00000421486:E130Q	ENSP00000324651:E130Q	E	+	1	0	TMEM108	134581633	0.998000	0.40836	0.039000	0.18376	0.013000	0.08279	2.171000	0.42453	0.963000	0.38082	0.462000	0.41574	GAG	TMEM108	-	NULL	ENSG00000144868		0.687	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM108	HGNC	protein_coding	OTTHUMT00000356907.2	140	0.00	0	G	NM_023943		133098943	133098943	+1	no_errors	ENST00000321871	ensembl	human	known	69_37n	missense	70	16.67	14	SNP	0.046	C
TMEM87B	84910	genome.wustl.edu	37	2	112873704	112873704	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr2:112873704C>T	ENST00000283206.4	+	19	2021	c.1652C>T	c.(1651-1653)tCa>tTa	p.S551L		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	551						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						ATGTTCTCTTCAGAAAAGATA	0.348																																						dbGAP											0													67.0	70.0	69.0					2																	112873704		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.1652C>T	2.37:g.112873704C>T	ENSP00000283206:p.Ser551Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2M9|Q1RLN2|Q53R54	Missense_Mutation	SNP	pfam_TM_rcpt_euk	p.S551L	ENST00000283206.4	37	c.1652	CCDS33275.1	2	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757610	0.89843	.	.	ENSG00000153214	ENST00000283206	.	.	.	5.81	5.81	0.92471	.	0.233916	0.39834	N	0.001243	T	0.68467	0.3004	L	0.40543	1.245	0.37925	D	0.931808	D	0.57899	0.981	D	0.69824	0.966	T	0.72776	-0.4191	9	0.87932	D	0	-13.0837	15.5657	0.76290	0.0:1.0:0.0:0.0	.	551	Q96K49	TM87B_HUMAN	L	551	.	ENSP00000283206:S551L	S	+	2	0	TMEM87B	112590175	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.459000	0.53021	2.738000	0.93877	0.557000	0.71058	TCA	TMEM87B	-	NULL	ENSG00000153214		0.348	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM87B	HGNC	protein_coding	OTTHUMT00000330500.1	61	0.00	0	C	NM_032824		112873704	112873704	+1	no_errors	ENST00000283206	ensembl	human	known	69_37n	missense	38	15.56	7	SNP	1.000	T
TMEM99	147184	genome.wustl.edu	37	17	38991475	38991475	+	Missense_Mutation	SNP	C	C	T	rs201131721		TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr17:38991475C>T	ENST00000301665.3	+	3	1011	c.707C>T	c.(706-708)tCt>tTt	p.S236F		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	236						integral component of membrane (GO:0016021)				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				ATATTACTCTCTAGTCTGGTT	0.433																																						dbGAP											0													65.0	61.0	62.0					17																	38991475		1845	4013	5858	-	-	-	SO:0001583	missense	0			AK097454	CCDS42319.1	17q21.2	2008-11-06			ENSG00000167920	ENSG00000167920			28305	protein-coding gene	gene with protein product						12477932	Standard	NM_001195386		Approved	MGC21518	uc021txc.1	Q8N816	OTTHUMG00000133579	ENST00000301665.3:c.707C>T	17.37:g.38991475C>T	ENSP00000301665:p.Ser236Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQ34|Q96BP9	Missense_Mutation	SNP	NULL	p.S236F	ENST00000301665.3	37	c.707	CCDS42319.1	17	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399885	0.25291	.	.	ENSG00000167920	ENST00000301665	T	0.29917	1.55	3.94	2.95	0.34219	.	.	.	.	.	T	0.27278	0.0669	N	0.08118	0	0.09310	N	1	D	0.59767	0.986	P	0.59703	0.862	T	0.12268	-1.0554	8	.	.	.	.	9.2775	0.37709	0.0:0.7788:0.2212:0.0	.	236	Q8N816	TMM99_HUMAN	F	236	ENSP00000301665:S236F	.	S	+	2	0	TMEM99	36245001	0.004000	0.15560	0.001000	0.08648	0.001000	0.01503	1.937000	0.40193	0.847000	0.35167	-0.274000	0.10170	TCT	TMEM99	-	NULL	ENSG00000167920		0.433	TMEM99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM99	HGNC	protein_coding	OTTHUMT00000257681.1	358	0.00	0	C	NM_145274		38991475	38991475	+1	no_errors	ENST00000301665	ensembl	human	known	69_37n	missense	374	11.11	47	SNP	0.002	T
TMPRSS7	344805	genome.wustl.edu	37	3	111768781	111768781	+	Silent	SNP	C	C	G			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr3:111768781C>G	ENST00000452346.2	+	8	1053	c.1050C>G	c.(1048-1050)ctC>ctG	p.L350L	TMPRSS7_ENST00000419127.1_Silent_p.L224L			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	350	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TACGGAGGCTCTCAGGAATCC	0.363																																						dbGAP											0													107.0	96.0	99.0					3																	111768781		1823	4078	5901	-	-	-	SO:0001819	synonymous_variant	0			BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1050C>G	3.37:g.111768781C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	C9J8P7|E9PAS3|Q17RH4	Silent	SNP	pfam_Peptidase_S1_S6,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.L224	ENST00000452346.2	37	c.672		3																																																																																			TMPRSS7	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000176040		0.363	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	TMPRSS7	HGNC	protein_coding	OTTHUMT00000347592.2	248	0.00	0	C	XM_293599		111768781	111768781	+1	no_errors	ENST00000419127	ensembl	human	known	69_37n	silent	161	17.01	33	SNP	0.004	G
TOR1AIP1	26092	genome.wustl.edu	37	1	179851766	179851767	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr1:179851766_179851767insA	ENST00000606911.2	+	1	320_321	c.129_130insA	c.(130-132)gcgfs	p.A44fs	TOR1AIP1_ENST00000435319.4_5'Flank|TOR1AIP1_ENST00000528443.2_Frame_Shift_Ins_p.A44fs|RP11-533E19.7_ENST00000610272.1_lincRNA|TOR1AIP1_ENST00000271583.3_Frame_Shift_Ins_p.A44fs			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	44					positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						GCGATGCGCCTGCGTACAGAAC	0.683																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"""lamina associated polypeptide 1B"""	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	Exception_encountered	1.37:g.179851766_179851767insA	ENSP00000476687:p.Ala44fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Frame_Shift_Ins	INS	pfam_Lamina-ass_polypeptide_CLAP1C	p.A43fs	ENST00000606911.2	37	c.129_130	CCDS1335.1	1																																																																																			TOR1AIP1	-	NULL	ENSG00000143337		0.683	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TOR1AIP1	HGNC	protein_coding	OTTHUMT00000100313.4	15	0.00	0	-	NM_015602		179851766	179851767	+1	no_errors	ENST00000435319	ensembl	human	known	69_37n	frame_shift_ins	23	34.29	12	INS	0.979:0.995	A
TRBV5-1	28614	genome.wustl.edu	37	7	142021121	142021121	+	RNA	SNP	G	G	C			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr7:142021121G>C	ENST00000390381.3	+	0	410									T cell receptor beta variable 5-1																		ATCAAAACGAGAGGACAGCAA	0.527																																						dbGAP											0													61.0	59.0	60.0					7																	142021121		1992	4170	6162	-	-	-			0			L36092		7q34	2012-02-07			ENSG00000211734	ENSG00000211734		"""T cell receptors / TRB locus"""	12218	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV51, TCRBV5S1, TCRBV5S1A1T			OTTHUMG00000158520		7.37:g.142021121G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R34T	ENST00000390381.3	37	c.101		7																																																																																			TRBV5-1	-	pfam_Ig_V-set,pfscan_Ig-like	ENSG00000211734		0.527	TRBV5-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRBV5-1	HGNC	TR_V_gene	OTTHUMT00000351226.1	135	0.00	0	G	NG_001333		142021121	142021121	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390381	ensembl	human	known	69_37n	missense	136	10.53	16	SNP	0.001	C
VWA7	80737	genome.wustl.edu	37	6	31733811	31733811	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr6:31733811G>A	ENST00000375688.4	-	16	2548	c.2348C>T	c.(2347-2349)tCg>tTg	p.S783L	VWA7_ENST00000467576.1_5'Flank|SAPCD1-AS1_ENST00000419679.1_RNA|VWA7_ENST00000375686.3_Missense_Mutation_p.S783L			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	783						extracellular region (GO:0005576)											GCCCCAGGCCGACTCATTCAG	0.642																																						dbGAP											0													95.0	123.0	113.0					6																	31733811		1507	2707	4214	-	-	-	SO:0001583	missense	0				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.2348C>T	6.37:g.31733811G>A	ENSP00000364840:p.Ser783Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	NULL	p.S783L	ENST00000375688.4	37	c.2348	CCDS4721.2	6	.	.	.	.	.	.	.	.	.	.	G	15.12	2.737603	0.49045	.	.	ENSG00000204396	ENST00000375688;ENST00000375686	T;T	0.19938	2.32;2.11	4.75	4.75	0.60458	.	0.170885	0.38720	N	0.001584	T	0.08403	0.0209	L	0.29908	0.895	0.80722	D	1	P	0.39920	0.695	B	0.34180	0.177	T	0.06570	-1.0819	10	0.72032	D	0.01	-17.9746	13.4275	0.61035	0.0:0.0:1.0:0.0	.	783	Q9Y334	G7C_HUMAN	L	783	ENSP00000364840:S783L;ENSP00000364838:S783L	ENSP00000364838:S783L	S	-	2	0	C6orf27	31841790	0.966000	0.33281	0.900000	0.35374	0.363000	0.29612	2.543000	0.45752	2.630000	0.89119	0.563000	0.77884	TCG	VWA7	-	NULL	ENSG00000204396		0.642	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VWA7	HGNC	protein_coding	OTTHUMT00000076233.2	82	0.00	0	G	NM_025258		31733811	31733811	-1	no_errors	ENST00000375686	ensembl	human	known	69_37n	missense	65	19.51	16	SNP	0.958	A
WNK1	65125	genome.wustl.edu	37	12	994442	994442	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr12:994442C>T	ENST00000315939.6	+	19	5115	c.4472C>T	c.(4471-4473)tCa>tTa	p.S1491L	WNK1_ENST00000340908.4_Missense_Mutation_p.S1084L|WNK1_ENST00000530271.2_Missense_Mutation_p.S1989L|WNK1_ENST00000537687.1_Missense_Mutation_p.S1751L|WNK1_ENST00000535572.1_Missense_Mutation_p.S1244L	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1491					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACATTAACATCAGTTTCTACC	0.522																																					Colon(19;451 567 6672 12618 28860)	dbGAP											0													141.0	129.0	133.0					12																	994442		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4472C>T	12.37:g.994442C>T	ENSP00000313059:p.Ser1491Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S1989L	ENST00000315939.6	37	c.5966	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	C	7.999	0.755026	0.15846	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.72051	-0.6;-0.57;-0.55;-0.62;0.61	4.87	3.98	0.46160	.	0.674702	0.13648	N	0.372463	T	0.60235	0.2253	L	0.47716	1.5	0.20563	N	0.999883	P;P;B	0.38078	0.617;0.465;0.335	B;B;B	0.31101	0.11;0.124;0.035	T	0.47674	-0.9099	10	0.24483	T	0.36	-1.5975	13.4372	0.61090	0.0:0.9242:0.0:0.0758	.	1244;1244;1491	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	L	1244;1491;1751;664;1989;1084	ENSP00000441972:S1244L;ENSP00000313059:S1491L;ENSP00000444465:S1751L;ENSP00000433548:S1989L;ENSP00000341292:S1084L	ENSP00000252477:S664L	S	+	2	0	WNK1	864703	0.803000	0.28956	0.224000	0.23877	0.090000	0.18270	4.202000	0.58446	1.409000	0.46915	0.655000	0.94253	TCA	WNK1	-	NULL	ENSG00000060237		0.522	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	472	0.00	0	C	NM_018979		994442	994442	+1	no_errors	ENST00000530271	ensembl	human	known	69_37n	missense	396	14.44	67	SNP	0.254	T
ZNF574	64763	genome.wustl.edu	37	19	42585168	42585168	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr19:42585168G>A	ENST00000600245.1	+	2	3065	c.2410G>A	c.(2410-2412)Gcc>Acc	p.A804T	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Missense_Mutation_p.A804T|ZNF574_ENST00000222339.7_Missense_Mutation_p.A894T			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	804					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CAAGGCCTTTGCCATCTCCAT	0.607																																						dbGAP											0													77.0	76.0	77.0					19																	42585168		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.2410G>A	19.37:g.42585168G>A	ENSP00000469029:p.Ala804Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A894T	ENST00000600245.1	37	c.2680	CCDS12596.1	19	.	.	.	.	.	.	.	.	.	.	G	5.364	0.252375	0.10185	.	.	ENSG00000105732	ENST00000222339;ENST00000359044	T;T	0.07567	3.18;3.18	4.84	3.75	0.43078	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.145735	0.44285	D	0.000480	T	0.03305	0.0096	N	0.10618	0.005	0.31811	N	0.627105	B;B	0.13594	0.0;0.008	B;B	0.10450	0.003;0.005	T	0.31364	-0.9946	10	0.12766	T	0.61	-13.0469	4.8102	0.13340	0.271:0.0:0.729:0.0	.	804;893	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	T	894;804	ENSP00000222339:A894T;ENSP00000351939:A804T	ENSP00000222339:A894T	A	+	1	0	ZNF574	47277008	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.874000	0.39568	2.510000	0.84645	0.557000	0.71058	GCC	ZNF574	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000105732		0.607	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ZNF574	HGNC	protein_coding	OTTHUMT00000463458.1	202	0.00	0	G	NM_022752		42585168	42585168	+1	no_errors	ENST00000222339	ensembl	human	known	69_37n	missense	94	14.41	16	SNP	1.000	A
ZNF350	59348	genome.wustl.edu	37	19	52471868	52471868	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr19:52471868C>G	ENST00000243644.4	-	4	428	c.201G>C	c.(199-201)tgG>tgC	p.W67C	ZNF350_ENST00000600703.1_5'UTR|HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	67	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		CTTCAATTGTCCACAGTTGTT	0.453																																						dbGAP											0													180.0	150.0	160.0					19																	52471868		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"""Zinc fingers, C2H2-type"", ""-"""	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.201G>C	19.37:g.52471868C>G	ENSP00000243644:p.Trp67Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96G73|Q9HAQ4	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.W67C	ENST00000243644.4	37	c.201	CCDS12845.1	19	.	.	.	.	.	.	.	.	.	.	C	6.250	0.414230	0.11870	.	.	ENSG00000256683	ENST00000243644	T	0.10382	2.88	3.53	3.53	0.40419	Krueppel-associated box (2);	0.277596	0.19656	N	0.109087	T	0.23965	0.0580	M	0.71296	2.17	0.28307	N	0.92284	D	0.67145	0.996	P	0.57371	0.819	T	0.02477	-1.1153	10	0.54805	T	0.06	.	10.4518	0.44526	0.0:1.0:0.0:0.0	.	67	Q9GZX5	ZN350_HUMAN	C	67	ENSP00000243644:W67C	ENSP00000243644:W67C	W	-	3	0	ZNF350	57163680	0.019000	0.18553	0.149000	0.22428	0.040000	0.13550	1.870000	0.39529	1.796000	0.52611	0.591000	0.81541	TGG	ZNF350	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000256683		0.453	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF350	HGNC	protein_coding	OTTHUMT00000462278.1	364	0.00	0	C	NM_021632		52471868	52471868	-1	no_errors	ENST00000243644	ensembl	human	known	69_37n	missense	396	20.12	100	SNP	0.301	G
ZNF160	90338	genome.wustl.edu	37	19	53573310	53573310	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr19:53573310C>G	ENST00000429604.1	-	7	892	c.477G>C	c.(475-477)caG>caC	p.Q159H	ZNF160_ENST00000601421.1_Missense_Mutation_p.Q123H|ZNF160_ENST00000599056.1_Missense_Mutation_p.Q159H|ZNF160_ENST00000418871.1_Missense_Mutation_p.Q159H	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	159					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TACCTTCTTTCTGGGCCATAA	0.413																																						dbGAP											0													262.0	227.0	239.0					19																	53573310		2203	4300	6503	-	-	-	SO:0001583	missense	0			X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.477G>C	19.37:g.53573310C>G	ENSP00000406201:p.Gln159His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	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.Q159H	ENST00000429604.1	37	c.477	CCDS12859.1	19	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.489238	0.01018	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.07114	3.22;3.22	2.39	-3.83	0.04269	.	.	.	.	.	T	0.02494	0.0076	N	0.02539	-0.55	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.48234	-0.9053	9	0.11794	T	0.64	.	6.7477	0.23470	0.249:0.6149:0.136:0.0	.	159	Q9HCG1	ZN160_HUMAN	H	159	ENSP00000406201:Q159H;ENSP00000409597:Q159H	ENSP00000409597:Q159H	Q	-	3	2	ZNF160	58265122	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.493000	0.02298	-0.640000	0.05495	-0.314000	0.08810	CAG	ZNF160	-	NULL	ENSG00000170949		0.413	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF160	HGNC	protein_coding	OTTHUMT00000463994.2	298	0.00	0	C	NM_033288		53573310	53573310	-1	no_errors	ENST00000418871	ensembl	human	known	69_37n	missense	374	18.30	84	SNP	0.000	G
ZNF800	168850	genome.wustl.edu	37	7	127013543	127013543	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A7-01A-11W-A019-09	TCGA-A8-A0A7-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	28be7b14-730d-44f7-bf93-a7590b4a08f8	42c2f167-31c5-4e16-8957-a01fd498e05d	g.chr7:127013543G>A	ENST00000393313.1	-	5	2438	c.1847C>T	c.(1846-1848)tCt>tTt	p.S616F	ZNF800_ENST00000265827.3_Missense_Mutation_p.S616F|ZNF800_ENST00000485577.1_5'UTR|ZNF800_ENST00000393312.1_Missense_Mutation_p.S616F			Q2TB10	ZN800_HUMAN	zinc finger protein 800	616					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TCTGTGAAGAGAAAAGTTTTT	0.348																																						dbGAP											0													161.0	156.0	158.0					7																	127013543		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1847C>T	7.37:g.127013543G>A	ENSP00000376989:p.Ser616Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HBN0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S616F	ENST00000393313.1	37	c.1847	CCDS5795.1	7	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986522	0.53934	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.01647	4.71;4.71;4.71	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.04318	0.0119	N	0.08118	0	0.40191	D	0.977405	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.62969	-0.6741	9	0.66056	D	0.02	-6.1886	18.8226	0.92103	0.0:0.0:1.0:0.0	.	519;616	B7Z4V7;Q2TB10	.;ZN800_HUMAN	F	616	ENSP00000376989:S616F;ENSP00000265827:S616F;ENSP00000376988:S616F	ENSP00000265827:S616F	S	-	2	0	ZNF800	126800779	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.206000	0.95056	2.692000	0.91855	0.655000	0.94253	TCT	ZNF800	-	NULL	ENSG00000048405		0.348	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF800	HGNC	protein_coding	OTTHUMT00000141823.1	310	0.00	0	G	NM_176814		127013543	127013543	-1	no_errors	ENST00000265827	ensembl	human	known	69_37n	missense	196	11.31	25	SNP	1.000	A
