#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_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	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
AASS	10157	genome.wustl.edu	37	7	121753715	121753715	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:121753715T>A	ENST00000393376.1	-	9	1198	c.1103A>T	c.(1102-1104)gAg>gTg	p.E368V	AASS_ENST00000417368.2_Missense_Mutation_p.E368V|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	368	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TGTTGTACACTCAGTCATAAA	0.378																																																	0													147.0	124.0	131.0					7																	121753715		2203	4300	6503	SO:0001583	missense	0			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1103A>T	7.37:g.121753715T>A	ENSP00000377040:p.Glu368Val		O95462	Missense_Mutation	SNP	pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N	p.E368V	ENST00000393376.1	37	c.1103	CCDS5783.1	7	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683005	0.88542	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	D;D	0.83755	-1.76;-1.76	4.92	4.92	0.64577	Alanine dehydrogenase/PNT, C-terminal (1);	0.143948	0.64402	D	0.000008	D	0.86226	0.5882	M	0.69823	2.125	0.80722	D	1	P	0.48911	0.917	P	0.50754	0.649	D	0.86406	0.1745	10	0.41790	T	0.15	-16.5948	14.9993	0.71459	0.0:0.0:0.0:1.0	.	368	Q9UDR5	AASS_HUMAN	V	368	ENSP00000377040:E368V;ENSP00000403768:E368V	ENSP00000351834:E368V	E	-	2	0	AASS	121540951	1.000000	0.71417	0.879000	0.34478	0.878000	0.50629	7.785000	0.85724	2.190000	0.69967	0.533000	0.62120	GAG	AASS	-	pfam_AlaDH/PNT_NAD(H)-bd	ENSG00000008311		0.378	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AASS	HGNC	protein_coding	OTTHUMT00000347300.1	-	0.00	18	0	T	NM_005763		121753715	-1	tier1	-	no_errors	ENST00000393376	ensembl	human	known	74_37	missense	68.75	5	11	SNP	1.000	A
ABCA13	154664	genome.wustl.edu	37	7	48321028	48321028	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:48321028C>T	ENST00000435803.1	+	19	8839	c.8815C>T	c.(8815-8817)Cgt>Tgt	p.R2939C		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2939					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GATGGTCGTACGTGTGCTCAC	0.463																																																	0													113.0	113.0	113.0					7																	48321028		2028	4203	6231	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.8815C>T	7.37:g.48321028C>T	ENSP00000411096:p.Arg2939Cys		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R2939C	ENST00000435803.1	37	c.8815	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	16.44	3.125141	0.56721	.	.	ENSG00000179869	ENST00000435803	D	0.87887	-2.31	4.81	3.79	0.43588	.	1.103590	0.06934	N	0.811540	D	0.87176	0.6112	L	0.29908	0.895	0.19945	N	0.99994	D;D	0.76494	0.999;0.999	P;P	0.56474	0.764;0.799	T	0.76658	-0.2878	10	0.87932	D	0	.	9.035	0.36282	0.276:0.724:0.0:0.0	.	641;2939	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	C	2939	ENSP00000411096:R2939C	ENSP00000411096:R2939C	R	+	1	0	ABCA13	48291574	0.023000	0.18921	0.004000	0.12327	0.003000	0.03518	2.501000	0.45389	2.358000	0.79984	0.650000	0.86243	CGT	ABCA13	-	NULL	ENSG00000179869		0.463	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	-	0.00	37	0	C	NM_152701		48321028	+1	tier1	-	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	59.09	9	13	SNP	0.003	T
AASS	10157	genome.wustl.edu	37	7	121756943	121756943	+	Silent	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:121756943G>A	ENST00000393376.1	-	6	851	c.756C>T	c.(754-756)tcC>tcT	p.S252S	AASS_ENST00000417368.2_Silent_p.S252S|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	252	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						CTCCAGTTTGGGAAACTTCTT	0.328																																																	0													78.0	86.0	84.0					7																	121756943		2203	4299	6502	SO:0001819	synonymous_variant	0			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.756C>T	7.37:g.121756943G>A			O95462	Silent	SNP	pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N	p.S252	ENST00000393376.1	37	c.756	CCDS5783.1	7																																																																																			AASS	-	pfam_AlaDH/PNT_NAD(H)-bd	ENSG00000008311		0.328	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AASS	HGNC	protein_coding	OTTHUMT00000347300.1		0.00	53	0	G	NM_005763		121756943	-1			no_errors	ENST00000393376	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.155	A
ABCA6	23460	genome.wustl.edu	37	17	67094077	67094077	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:67094077C>T	ENST00000284425.2	-	23	3278	c.3104G>A	c.(3103-3105)aGc>aAc	p.S1035N	MIR4524B_ENST00000581569.1_RNA|ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1035					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCACTGATGCTGCCCATGGT	0.363																																																	0													58.0	53.0	55.0					17																	67094077		2203	4300	6503	SO:0001583	missense	0			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3104G>A	17.37:g.67094077C>T	ENSP00000284425:p.Ser1035Asn		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S1035N	ENST00000284425.2	37	c.3104	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879495	0.51801	.	.	ENSG00000154262	ENST00000284425	D	0.87029	-2.2	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000007	D	0.89901	0.6849	M	0.76838	2.35	0.80722	D	1	P	0.45474	0.859	P	0.51777	0.679	D	0.87089	0.2171	10	0.21014	T	0.42	.	13.8152	0.63287	0.0:1.0:0.0:0.0	.	1035	Q8N139	ABCA6_HUMAN	N	1035	ENSP00000284425:S1035N	ENSP00000284425:S1035N	S	-	2	0	ABCA6	64605672	0.988000	0.35896	0.995000	0.50966	0.823000	0.46562	3.587000	0.53957	2.717000	0.92951	0.557000	0.71058	AGC	ABCA6	-	NULL	ENSG00000154262		0.363	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	-	0.00	71	0	C	NM_080284		67094077	-1	tier1	-	no_errors	ENST00000284425	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.990	T
ADAM23	8745	genome.wustl.edu	37	2	207437884	207437884	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:207437884G>T	ENST00000264377.3	+	18	2030	c.1702G>T	c.(1702-1704)Gat>Tat	p.D568Y	ADAM23_ENST00000374416.1_Missense_Mutation_p.D568Y|ADAM23_ENST00000374415.3_Missense_Mutation_p.D568Y	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	568	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.|May bind the integrin receptor.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GAACGAGTGTGATATTACTGA	0.378																																					Melanoma(194;1127 2130 19620 24042 27855)												0													272.0	241.0	251.0					2																	207437884		2203	4300	6503	SO:0001583	missense	0			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1702G>T	2.37:g.207437884G>T	ENSP00000264377:p.Asp568Tyr		A2RU59	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.D568Y	ENST00000264377.3	37	c.1702	CCDS2369.1	2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534043	0.85812	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.15487	2.42;2.42;2.42	5.81	5.81	0.92471	Blood coagulation inhibitor, Disintegrin (5);	0.000000	0.64402	D	0.000007	T	0.60508	0.2274	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74962	-0.3485	10	0.87932	D	0	.	18.9069	0.92466	0.0:0.0:1.0:0.0	.	568	O75077	ADA23_HUMAN	Y	568;568;462;568	ENSP00000264377:D568Y;ENSP00000363537:D568Y;ENSP00000363536:D568Y	ENSP00000264377:D568Y	D	+	1	0	ADAM23	207146129	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.216000	0.89764	2.755000	0.94549	0.650000	0.86243	GAT	ADAM23	-	pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin	ENSG00000114948		0.378	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM23	HGNC	protein_coding	OTTHUMT00000256431.2	-	0.00	98	0	G	NM_003812		207437884	+1	tier1	-	no_errors	ENST00000264377	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T
ABCB6	10058	genome.wustl.edu	37	2	220078017	220078017	+	Missense_Mutation	SNP	C	C	T	rs145498806	byFrequency	TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:220078017C>T	ENST00000265316.3	-	12	2067	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H	ABCB6_ENST00000439002.2_Missense_Mutation_p.R538H	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	584					brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCTGAAAGCGAAGGGGCCC	0.522																																																	0								C	HIS/ARG	0,4406		0,0,2203	97.0	101.0	100.0		1751	-7.6	0.0	2	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCB6	NM_005689.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	584/843	220078017	1,13005	2203	4300	6503	SO:0001583	missense	0			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1751G>A	2.37:g.220078017C>T	ENSP00000265316:p.Arg584His		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.R584H	ENST00000265316.3	37	c.1751	CCDS2436.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.03|11.03	1.520142|1.520142	0.27211|0.27211	0.0|0.0	1.16E-4|1.16E-4	ENSG00000115657|ENSG00000115657	ENST00000295750|ENST00000265316;ENST00000439002	.|D;D	.|0.90504	.|-2.68;-2.68	4.7|4.7	-7.61|-7.61	0.01299|0.01299	.|.	.|1.339170	.|0.04236	.|N	.|0.336082	D|D	0.83843|0.83843	0.5342|0.5342	L|L	0.35854|0.35854	1.095|1.095	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.70124|0.70124	-0.4958|-0.4958	5|10	.|0.44086	.|T	.|0.13	-1.7478|-1.7478	9.751|9.751	0.40475|0.40475	0.1034:0.6236:0.1051:0.1679|0.1034:0.6236:0.1051:0.1679	.|.	.|538;584	.|Q9NP58-4;Q9NP58	.|.;ABCB6_HUMAN	T|H	432|584;538	.|ENSP00000265316:R584H;ENSP00000394333:R538H	.|ENSP00000265316:R584H	A|R	-|-	1|2	0|0	ABCB6|ABCB6	219786261|219786261	0.001000|0.001000	0.12720|0.12720	0.012000|0.012000	0.15200|0.15200	0.989000|0.989000	0.77384|0.77384	-0.871000|-0.871000	0.04223|0.04223	-1.866000|-1.866000	0.01145|0.01145	-0.320000|-0.320000	0.08662|0.08662	GCT|CGC	ABCB6	-	superfamily_P-loop_NTPase	ENSG00000115657		0.522	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB6	HGNC	protein_coding	OTTHUMT00000256820.2	-	0.00	42	0	C	NM_005689		220078017	-1	tier1	rs145498806	no_errors	ENST00000265316	ensembl	human	known	74_37	missense	25.00	24	8	SNP	0.001	T
ADPRM	56985	genome.wustl.edu	37	17	10609815	10609815	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:10609815G>A	ENST00000379774.4	+	3	753	c.662G>A	c.(661-663)tGg>tAg	p.W221*	ADPRM_ENST00000609540.1_Nonsense_Mutation_p.W221*	NM_020233.4	NP_064618.3	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	221							ADP-ribose diphosphatase activity (GO:0047631)|CDP-glycerol diphosphatase activity (GO:0047734)|metal ion binding (GO:0046872)										CAGCTAAACTGGTTGAATGAA	0.368																																																	0													126.0	114.0	118.0					17																	10609815		2203	4300	6503	SO:0001587	stop_gained	0			BC070155	CCDS11159.2	17p13.1	2012-07-20	2012-07-20	2012-07-20	ENSG00000170222	ENSG00000170222	3.6.1.13, 3.6.1.16, 3.6.1.53		30925	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 48"""	C17orf48		18352857	Standard	XM_005256738		Approved	MDS006	uc002gmt.3	Q3LIE5	OTTHUMG00000130366	ENST00000379774.4:c.662G>A	17.37:g.10609815G>A	ENSP00000369099:p.Trp221*		A8K9B4|D3DTS4|Q9BVD4|Q9NRU8	Nonsense_Mutation	SNP	pfam_PEstase_dom	p.W221*	ENST00000379774.4	37	c.662	CCDS11159.2	17	.	.	.	.	.	.	.	.	.	.	G	35	5.526160	0.96431	.	.	ENSG00000170222	ENST00000379774	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0423	18.7377	0.91761	0.0:0.0:1.0:0.0	.	.	.	.	X	221	.	ENSP00000369099:W221X	W	+	2	0	C17orf48	10550540	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.037000	0.93765	2.753000	0.94483	0.467000	0.42956	TGG	ADPRM	-	pfam_PEstase_dom	ENSG00000170222		0.368	ADPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADPRM	HGNC	protein_coding	OTTHUMT00000252732.2	-	0.00	61	0	G	NM_020233		10609815	+1	tier1	-	no_errors	ENST00000379774	ensembl	human	known	74_37	nonsense	69.23	12	27	SNP	1.000	A
ADRA1D	146	genome.wustl.edu	37	20	4202294	4202294	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:4202294G>A	ENST00000379453.4	-	2	1711	c.1595C>T	c.(1594-1596)gCg>gTg	p.A532V		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	532				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CTGGGCGCACGCTGCCTCTGC	0.711																																																	0													19.0	22.0	21.0					20																	4202294		2193	4276	6469	SO:0001583	missense	0			U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"""GPCR / Class A : Adrenoceptors : alpha"""	280	protein-coding gene	gene with protein product		104219	"""adrenergic, alpha-1D-, receptor"""			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1595C>T	20.37:g.4202294G>A	ENSP00000368766:p.Ala532Val		Q9NPY0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_ADRA1D_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,pfscan_GPCR_Rhodpsn_7TM	p.A532V	ENST00000379453.4	37	c.1595	CCDS13079.1	20	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124683	0.37533	.	.	ENSG00000171873	ENST00000379453	T	0.63096	-0.02	3.23	2.27	0.28462	.	11.930200	0.00541	U	0.000227	T	0.51210	0.1661	L	0.36672	1.1	0.09310	N	1	P	0.36768	0.569	B	0.26202	0.067	T	0.48151	-0.9060	10	0.54805	T	0.06	.	8.4031	0.32599	0.1235:0.0:0.8765:0.0	.	532	P25100	ADA1D_HUMAN	V	532	ENSP00000368766:A532V	ENSP00000368766:A532V	A	-	2	0	ADRA1D	4150294	0.010000	0.17322	0.001000	0.08648	0.494000	0.33585	1.696000	0.37773	0.662000	0.31006	0.305000	0.20034	GCG	ADRA1D	-	prints_ADRA1D_rcpt	ENSG00000171873		0.711	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA1D	HGNC	protein_coding	OTTHUMT00000077812.2	-	0.00	37	0	G	NM_000678		4202294	-1	tier1	-	no_errors	ENST00000379453	ensembl	human	known	74_37	missense	34.15	27	14	SNP	0.006	A
ADSL	158	genome.wustl.edu	37	22	40761047	40761047	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr22:40761047G>T	ENST00000216194.7	+	12	1411	c.1355G>T	c.(1354-1356)cGt>cTt	p.R452L	ADSL_ENST00000342312.6_Intron|ADSL_ENST00000454266.2_Missense_Mutation_p.R466L	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	452			R -> P (in ADSL deficiency; severe). {ECO:0000269|PubMed:12368987}.		'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						TTCACTGGTCGTGCCTCCCAG	0.488																																					Colon(4;65 130 1097 1516)												0													159.0	127.0	138.0					22																	40761047		2203	4300	6503	SO:0001583	missense	0			X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.1355G>T	22.37:g.40761047G>T	ENSP00000216194:p.Arg452Leu		B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	pfam_Fumarate_lyase_N,pfam_AdenyloSucc_lyase_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Pur_lyase	p.R466L	ENST00000216194.7	37	c.1397	CCDS14001.1	22	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732720	0.89482	.	.	ENSG00000239900	ENST00000216194;ENST00000454266;ENST00000537028	D;D	0.95821	-3.82;-3.82	5.35	5.35	0.76521	Adenylosuccinate lyase C-terminal metazoa/fungi (1);L-Aspartase-like (1);	0.052401	0.85682	D	0.000000	D	0.98457	0.9486	H	0.95151	3.63	0.80722	D	1	D;D;D	0.55800	0.973;0.968;0.968	D;D;D	0.66084	0.941;0.933;0.933	D	0.99194	1.0871	10	0.72032	D	0.01	-6.9125	19.444	0.94840	0.0:0.0:1.0:0.0	.	466;452;452	E7ERF4;Q71UA4;P30566	.;.;PUR8_HUMAN	L	452;466;272	ENSP00000216194:R452L;ENSP00000390107:R466L	ENSP00000216194:R452L	R	+	2	0	ADSL	39090993	1.000000	0.71417	0.641000	0.29422	0.923000	0.55619	8.693000	0.91288	2.687000	0.91594	0.563000	0.77884	CGT	ADSL	-	pfam_AdenyloSucc_lyase_C,superfamily_L-Aspartase-like,tigrfam_Pur_lyase	ENSG00000239900		0.488	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADSL	HGNC	protein_coding	OTTHUMT00000321386.1	-	0.00	59	0	G	NM_000026		40761047	+1	tier1	-	no_errors	ENST00000454266	ensembl	human	known	74_37	missense	21.62	29	8	SNP	1.000	T
AFF2	2334	genome.wustl.edu	37	X	148037969	148037969	+	Silent	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:148037969G>T	ENST00000370460.2	+	11	2873	c.2394G>T	c.(2392-2394)ctG>ctT	p.L798L	AFF2_ENST00000342251.3_Silent_p.L765L|AFF2_ENST00000370457.5_Silent_p.L765L|AFF2_ENST00000286437.5_Silent_p.L439L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	798					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAGAACCTGAAAAACCTCT	0.478																																																	0													119.0	109.0	113.0					X																	148037969		2203	4300	6503	SO:0001819	synonymous_variant	0			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2394G>T	X.37:g.148037969G>T			A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	pfam_TF_AF4/FMR2	p.L798	ENST00000370460.2	37	c.2394	CCDS14684.1	X																																																																																			AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.478	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	-	0.00	46	0	G	NM_002025		148037969	+1	tier1	-	no_errors	ENST00000370460	ensembl	human	known	74_37	silent	51.52	16	17	SNP	0.025	T
AFG3L2	10939	genome.wustl.edu	37	18	12356720	12356720	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr18:12356720C>T	ENST00000269143.3	-	9	1368	c.1137G>A	c.(1135-1137)gaG>gaA	p.E379E		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	379					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CAACGAACATCTCCAAAAACT	0.542																																																	0													209.0	158.0	175.0					18																	12356720		2203	4300	6503	SO:0001819	synonymous_variant	0			Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.1137G>A	18.37:g.12356720C>T			Q6P1L0	Silent	SNP	pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH	p.E379	ENST00000269143.3	37	c.1137	CCDS11859.1	18																																																																																			AFG3L2	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH	ENSG00000141385		0.542	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFG3L2	HGNC	protein_coding	OTTHUMT00000254603.2	-	0.00	51	0	C	NM_006796		12356720	-1	tier1	-	no_errors	ENST00000269143	ensembl	human	known	74_37	silent	43.86	32	25	SNP	1.000	T
AGO4	192670	genome.wustl.edu	37	1	36291296	36291296	+	Missense_Mutation	SNP	C	C	T	rs370159437		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:36291296C>T	ENST00000373210.3	+	5	750	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	169					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)	p.R169C(1)									CCCAGTGGGCCGTTCCTTTTT	0.493																																																	1	Substitution - Missense(1)	urinary_tract(1)						C	CYS/ARG	0,4406		0,0,2203	109.0	113.0	111.0		505	4.6	1.0	1		111	1,8599	1.2+/-3.3	0,1,4299	no	missense	EIF2C4	NM_017629.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	169/862	36291296	1,13005	2203	4300	6503	SO:0001583	missense	0			AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.505C>T	1.37:g.36291296C>T	ENSP00000362306:p.Arg169Cys		A7MD27	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.R169C	ENST00000373210.3	37	c.505	CCDS397.1	1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379038	0.82682	0.0	1.16E-4	ENSG00000134698	ENST00000373210	T	0.20069	2.1	5.53	4.62	0.57501	Argonaute/Dicer protein, PAZ (1);Domain of unknown function DUF1785 (1);	0.000000	0.85682	D	0.000000	T	0.56426	0.1984	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.69577	-0.5108	10	0.87932	D	0	-12.6709	14.271	0.66152	0.0:0.9285:0.0:0.0715	.	169	Q9HCK5	AGO4_HUMAN	C	169	ENSP00000362306:R169C	ENSP00000362306:R169C	R	+	1	0	EIF2C4	36063883	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	7.747000	0.85070	1.348000	0.45733	0.655000	0.94253	CGT	AGO4	-	pfam_DUF1785,superfamily_PAZ_dom	ENSG00000134698		0.493	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGO4	HGNC	protein_coding	OTTHUMT00000012213.3	-	0.00	40	0	C	NM_017629		36291296	+1	tier1	-	no_errors	ENST00000373210	ensembl	human	known	74_37	missense	27.87	43	17	SNP	1.000	T
AGBL4	84871	genome.wustl.edu	37	1	49052820	49052820	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:49052820G>A	ENST00000371839.1	-	11	1239	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	AGBL4_ENST00000334103.7_Missense_Mutation_p.R108W	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	375					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		ACAGCGTCCCGGTTAAAGGAT	0.522																																																	0													27.0	29.0	29.0					1																	49052820		1983	4137	6120	SO:0001583	missense	0			AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 6"""					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.1123C>T	1.37:g.49052820G>A	ENSP00000360905:p.Arg375Trp		B3KT26|B4DG37	Missense_Mutation	SNP	pfam_Peptidase_M14,smart_Peptidase_M14	p.R375W	ENST00000371839.1	37	c.1123	CCDS44137.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.78|19.78	3.890869|3.890869	0.72524|0.72524	.|.	.|.	ENSG00000186094|ENSG00000186094	ENST00000432500|ENST00000371839;ENST00000411952;ENST00000334103	.|T;T	.|0.09255	.|3.0;3.0	5.9|5.9	2.93|2.93	0.34026|0.34026	.|Peptidase M14, carboxypeptidase A (1);	.|0.112845	.|0.64402	.|D	.|0.000008	T|T	0.32704|0.32704	0.0838|0.0838	M|M	0.77103|0.77103	2.36|2.36	0.40313|0.40313	D|D	0.978736|0.978736	.|D;D;D;D;D	.|0.89917	.|0.999;0.998;1.0;0.999;0.999	.|P;P;D;D;D	.|0.74348	.|0.88;0.9;0.983;0.957;0.957	T|T	0.09509|0.09509	-1.0671|-1.0671	5|9	.|.	.|.	.|.	-6.5959|-6.5959	15.3332|15.3332	0.74231|0.74231	0.0:0.0:0.4107:0.5893|0.0:0.0:0.4107:0.5893	.|.	.|190;387;108;220;375	.|A0AVJ2;Q5VU57-2;B4DGK1;B1AMW2;Q5VU57	.|.;.;.;.;CBPC6_HUMAN	L|W	103|375;369;108	.|ENSP00000360905:R375W;ENSP00000335516:R108W	.|.	P|R	-|-	2|1	0|2	AGBL4|AGBL4	48825407|48825407	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.648000|3.648000	0.54410|0.54410	0.358000|0.358000	0.24211|0.24211	0.549000|0.549000	0.68633|0.68633	CCG|CGG	AGBL4	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000186094		0.522	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGBL4	HGNC	protein_coding	OTTHUMT00000021346.4	-	0.00	35	0	G	NM_032785		49052820	-1	tier1	-	no_errors	ENST00000371839	ensembl	human	known	74_37	missense	28.95	27	11	SNP	1.000	A
AHNAK	79026	genome.wustl.edu	37	11	62284501	62284501	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:62284501C>T	ENST00000378024.4	-	5	17662	c.17388G>A	c.(17386-17388)acG>acA	p.T5796T	AHNAK_ENST00000525875.1_5'UTR|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5796					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCAGCGTCCCCGTCGGGGTGG	0.493																																																	0													84.0	88.0	87.0					11																	62284501		2202	4299	6501	SO:0001819	synonymous_variant	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.17388G>A	11.37:g.62284501C>T			A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T5796	ENST00000378024.4	37	c.17388	CCDS31584.1	11																																																																																			AHNAK	-	NULL	ENSG00000124942		0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	-	0.00	40	0	C	NM_024060		62284501	-1	tier1	-	no_errors	ENST00000378024	ensembl	human	known	74_37	silent	26.32	28	10	SNP	0.012	T
AHNAK	79026	genome.wustl.edu	37	11	62299944	62299944	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:62299944G>A	ENST00000378024.4	-	5	2219	c.1945C>T	c.(1945-1947)Cat>Tat	p.H649Y	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	649					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGAGTCATATGAACATCTGGA	0.502																																																	0													128.0	125.0	126.0					11																	62299944		2202	4299	6501	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.1945C>T	11.37:g.62299944G>A	ENSP00000367263:p.His649Tyr		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.H649Y	ENST00000378024.4	37	c.1945	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	G	7.542	0.660794	0.14645	.	.	ENSG00000124942	ENST00000378024	T	0.00678	5.87	5.39	-4.55	0.03441	.	.	.	.	.	T	0.00815	0.0027	N	0.14661	0.345	0.09310	N	1	P	0.46784	0.884	P	0.49561	0.615	T	0.46162	-0.9211	9	0.72032	D	0.01	-0.1252	7.5119	0.27579	0.0:0.2383:0.4276:0.3341	.	649	Q09666	AHNK_HUMAN	Y	649	ENSP00000367263:H649Y	ENSP00000367263:H649Y	H	-	1	0	AHNAK	62056520	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	0.035000	0.13797	-0.953000	0.03645	0.305000	0.20034	CAT	AHNAK	-	NULL	ENSG00000124942		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	-	0.00	87	0	G	NM_024060		62299944	-1	tier1	-	no_errors	ENST00000378024	ensembl	human	known	74_37	missense	27.96	67	26	SNP	0.000	A
AKT2	208	genome.wustl.edu	37	19	40761157	40761157	+	Silent	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:40761157G>A	ENST00000392038.2	-	4	493	c.195C>T	c.(193-195)acC>acT	p.T65T	AKT2_ENST00000579047.1_Silent_p.T3T|AKT2_ENST00000424901.1_Silent_p.T65T|AKT2_ENST00000311278.6_Silent_p.T65T	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	65	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GCGGCCTCTCGGTCTTCATCA	0.607			A		"""ovarian, pancreatic """																																			Dom	yes		19	19q13.1-q13.2	208	v-akt murine thymoma viral oncogene homolog 2		E	0													111.0	108.0	109.0					19																	40761157		2203	4300	6503	SO:0001819	synonymous_variant	0			M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.195C>T	19.37:g.40761157G>A			B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Nonsense_Mutation	SNP	NULL	p.R7*	ENST00000392038.2	37	c.19	CCDS12552.1	19																																																																																			AKT2	-	NULL	ENSG00000105221		0.607	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKT2	HGNC	protein_coding	OTTHUMT00000268029.1	-	0.00	37	0	G	NM_001626		40761157	-1	tier1	-	no_errors	ENST00000391844	ensembl	human	known	74_37	nonsense	27.59	21	8	SNP	0.029	A
ALOX12	239	genome.wustl.edu	37	17	6899505	6899505	+	Silent	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:6899505G>A	ENST00000251535.6	+	1	122	c.69G>A	c.(67-69)caG>caA	p.Q23Q	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron|RP11-589P10.5_ENST00000573222.1_lincRNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	23	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ACCGCGTGCAGCTTTGGCTGG	0.756																																																	0													4.0	4.0	4.0					17																	6899505		1694	3255	4949	SO:0001819	synonymous_variant	0			M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.69G>A	17.37:g.6899505G>A			O95569|Q6ISF8|Q9UQM4	Silent	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C	p.Q23	ENST00000251535.6	37	c.69	CCDS11084.1	17																																																																																			ALOX12	-	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml	ENSG00000108839		0.756	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12	HGNC	protein_coding	OTTHUMT00000219922.2	-	0.00	25	0	G			6899505	+1	tier1	-	no_errors	ENST00000251535	ensembl	human	known	74_37	silent	50.00	7	7	SNP	1.000	A
ALDOC	230	genome.wustl.edu	37	17	26900790	26900790	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:26900790G>A	ENST00000226253.4	-	8	1437	c.962C>T	c.(961-963)gCt>gTt	p.A321V	RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395321.2_Missense_Mutation_p.A321V|PIGS_ENST00000308360.7_5'Flank|ALDOC_ENST00000395319.3_Missense_Mutation_p.A293V|PIGS_ENST00000395346.2_5'Flank|PIGS_ENST00000543734.1_5'Flank	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	321					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					GGCAGCCCCAGCATTGTCCCG	0.652																																																	0													75.0	78.0	77.0					17																	26900790		2203	4299	6502	SO:0001583	missense	0			AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.962C>T	17.37:g.26900790G>A	ENSP00000226253:p.Ala321Val		B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Missense_Mutation	SNP	pfam_Aldolase_I	p.A321V	ENST00000226253.4	37	c.962	CCDS11236.1	17	.	.	.	.	.	.	.	.	.	.	G	4.256	0.046542	0.08243	.	.	ENSG00000109107	ENST00000395319;ENST00000226253;ENST00000395321	D;D;D	0.84070	-1.8;-1.8;-1.8	5.46	4.44	0.53790	Aldolase-type TIM barrel (1);	0.104762	0.64402	D	0.000004	T	0.48502	0.1503	N	0.00387	-1.565	0.36226	D	0.852347	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.59568	-0.7430	10	0.02654	T	1	-9.5166	10.5235	0.44934	0.0:0.0:0.6262:0.3738	.	293;321	A8MVZ9;P09972	.;ALDOC_HUMAN	V	293;321;321	ENSP00000378729:A293V;ENSP00000226253:A321V;ENSP00000378731:A321V	ENSP00000226253:A321V	A	-	2	0	ALDOC	23924917	0.568000	0.26635	1.000000	0.80357	0.982000	0.71751	2.296000	0.43584	2.573000	0.86826	0.462000	0.41574	GCT	ALDOC	-	pfam_Aldolase_I	ENSG00000109107		0.652	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOC	HGNC	protein_coding	OTTHUMT00000255839.4	-	0.00	54	0	G			26900790	-1	tier1	-	no_errors	ENST00000226253	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	A
AMOTL2	51421	genome.wustl.edu	37	3	134079102	134079102	+	Missense_Mutation	SNP	G	G	A	rs145301642		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:134079102G>A	ENST00000422605.2	-	7	1895	c.1729C>T	c.(1729-1731)Cgt>Tgt	p.R577C	AMOTL2_ENST00000513145.1_Missense_Mutation_p.R575C|AMOTL2_ENST00000514516.1_Missense_Mutation_p.R635C|AMOTL2_ENST00000249883.5_Missense_Mutation_p.R577C			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	577					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						CTCATGGCACGTTCCTCCAAA	0.612																																																	0													134.0	94.0	107.0					3																	134079102		2203	4300	6503	SO:0001583	missense	0			AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.1729C>T	3.37:g.134079102G>A	ENSP00000409999:p.Arg577Cys		A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.R577C	ENST00000422605.2	37	c.1729		3	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482490	0.44147	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.17213	2.29;2.29;2.29;2.3	5.23	4.23	0.50019	.	0.150494	0.64402	D	0.000011	T	0.06962	0.0177	N	0.03115	-0.41	0.58432	D	0.999999	B;B;B	0.19583	0.011;0.011;0.037	B;B;B	0.17979	0.007;0.007;0.02	T	0.17623	-1.0363	10	0.46703	T	0.11	-11.2662	6.2102	0.20626	0.2265:0.0:0.7735:0.0	.	575;577;635	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	C	577;577;635;575	ENSP00000249883:R577C;ENSP00000409999:R577C;ENSP00000424765:R635C;ENSP00000425475:R575C	ENSP00000249883:R577C	R	-	1	0	AMOTL2	135561792	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	3.407000	0.52644	2.417000	0.82017	0.561000	0.74099	CGT	AMOTL2	-	pfam_Angiomotin_C	ENSG00000114019		0.612	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	AMOTL2	HGNC	protein_coding	OTTHUMT00000358149.1	-	0.00	71	0	G	NM_016201		134079102	-1	tier1	-	no_errors	ENST00000249883	ensembl	human	known	74_37	missense	21.95	32	9	SNP	1.000	A
AMPH	273	genome.wustl.edu	37	7	38468649	38468649	+	Intron	SNP	T	T	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:38468649T>G	ENST00000356264.2	-	14	1398				AMPH_ENST00000325590.5_Intron|AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Intron	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin						endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						ATAGCTCCAGTGTCTACCTTT	0.413																																																	0																																										SO:0001627	intron_variant	0				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1182+792A>C	7.37:g.38468649T>G			A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	RNA	SNP	-	NULL	ENST00000356264.2	37	NULL	CCDS5456.1	7																																																																																			AMPH	-	-	ENSG00000078053		0.413	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMPH	HGNC	protein_coding	OTTHUMT00000226953.2	-	0.00	36	0	T	NM_001635		38468649	-1	tier1	-	no_errors	ENST00000467580	ensembl	human	known	74_37	rna	11.76	60	8	SNP	0.967	G
ANGPTL5	253935	genome.wustl.edu	37	11	101773359	101773359	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:101773359G>T	ENST00000334289.3	-	6	1128	c.533C>A	c.(532-534)cCa>cAa	p.P178Q		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	178	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TACCTCAAATGGGTAGCTAGA	0.333																																																	0													114.0	118.0	117.0					11																	101773359		2203	4299	6502	SO:0001583	missense	0			BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.533C>A	11.37:g.101773359G>T	ENSP00000335255:p.Pro178Gln		A8K658|Q86VR9	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.P178Q	ENST00000334289.3	37	c.533	CCDS8312.1	11	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130458	0.77549	.	.	ENSG00000187151	ENST00000334289	D	0.83591	-1.74	5.05	4.14	0.48551	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.169277	0.53938	D	0.000047	D	0.89431	0.6713	M	0.77406	2.37	0.40323	D	0.978843	D	0.71674	0.998	D	0.67231	0.95	D	0.88884	0.3341	10	0.36615	T	0.2	.	13.0671	0.59041	0.0773:0.0:0.9227:0.0	.	178	Q86XS5	ANGL5_HUMAN	Q	178	ENSP00000335255:P178Q	ENSP00000335255:P178Q	P	-	2	0	ANGPTL5	101278569	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.122000	0.64697	1.118000	0.41863	0.591000	0.81541	CCA	ANGPTL5	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000187151		0.333	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL5	HGNC	protein_coding	OTTHUMT00000394138.1	-	0.00	58	0	G	NM_178127		101773359	-1	tier1	-	no_errors	ENST00000334289	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T
ANK2	287	genome.wustl.edu	37	4	114158193	114158193	+	Silent	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:114158193G>A	ENST00000357077.4	+	6	587	c.534G>A	c.(532-534)gcG>gcA	p.A178A	ANK2_ENST00000394537.3_Silent_p.A178A|ANK2_ENST00000506722.1_Silent_p.A157A|ANK2_ENST00000264366.6_Silent_p.A178A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	178					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|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 heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACAACCAGGCGGTGGCCATCC	0.498																																																	0													147.0	141.0	143.0					4																	114158193		2203	4300	6503	SO:0001819	synonymous_variant	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.534G>A	4.37:g.114158193G>A			Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.A178	ENST00000357077.4	37	c.534	CCDS3702.1	4																																																																																			ANK2	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000145362		0.498	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	-	0.00	27	0	G	NM_001148		114158193	+1	tier1	-	no_errors	ENST00000357077	ensembl	human	known	74_37	silent	47.62	11	10	SNP	0.136	A
ANK2	287	genome.wustl.edu	37	4	114199051	114199051	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:114199051T>G	ENST00000357077.4	+	16	1795	c.1742T>G	c.(1741-1743)cTt>cGt	p.L581R	ANK2_ENST00000394537.3_Missense_Mutation_p.L581R|ANK2_ENST00000506722.1_Missense_Mutation_p.L560R|ANK2_ENST00000264366.6_Missense_Mutation_p.L581R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	581					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|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 heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTGGCAAAACTTCTCTTGCAA	0.408																																																	0													74.0	76.0	75.0					4																	114199051		2203	4300	6503	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1742T>G	4.37:g.114199051T>G	ENSP00000349588:p.Leu581Arg		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.L581R	ENST00000357077.4	37	c.1742	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	T	25.4	4.638809	0.87760	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.46	5.46	0.80206	Ankyrin repeat-containing domain (3);	0.000000	0.46758	D	0.000267	D	0.82426	0.5034	M	0.80508	2.5	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;1.0;0.997;0.998	D;D;D;D;D	0.91635	0.98;0.999;0.999;0.944;0.949	D	0.85204	0.1017	10	0.87932	D	0	.	15.1945	0.73075	0.0:0.0:0.0:1.0	.	581;581;581;560;560	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	R	560;560;560;596;581;581;581;560	ENSP00000423799:L560R;ENSP00000421011:L560R;ENSP00000421067:L560R;ENSP00000424722:L596R;ENSP00000378044:L581R;ENSP00000349588:L581R;ENSP00000264366:L581R	ENSP00000264366:L581R	L	+	2	0	ANK2	114418500	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.921000	0.87530	2.047000	0.60756	0.455000	0.32223	CTT	ANK2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000145362		0.408	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	-	0.00	42	0	T	NM_001148		114199051	+1	tier1	-	no_errors	ENST00000357077	ensembl	human	known	74_37	missense	34.78	15	8	SNP	1.000	G
ANKFN1	162282	genome.wustl.edu	37	17	54588160	54588160	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:54588160C>T	ENST00000566473.2	+	20	2980	c.2980C>T	c.(2980-2982)Cgg>Tgg	p.R994W				Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	0										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GTCCGGTGGGCGGCCCCCGCT	0.632																																																	0																																										SO:0001583	missense	0			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000566473.2:c.2980C>T	17.37:g.54588160C>T	ENSP00000454224:p.Arg994Trp			Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3	p.R994W	ENST00000566473.2	37	c.2980		17																																																																																			ANKFN1	-	NULL	ENSG00000153930		0.632	ANKFN1-002	NOVEL	basic|exp_conf	protein_coding	ANKFN1	HGNC	protein_coding	OTTHUMT00000435456.2	-	0.00	43	0	C	NM_153228		54588160	+1	tier1	-	no_errors	ENST00000566473	ensembl	human	novel	74_37	missense	23.26	33	10	SNP	0.231	T
ANKRD34B	340120	genome.wustl.edu	37	5	79854965	79854965	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:79854965T>C	ENST00000338682.3	-	5	1546	c.874A>G	c.(874-876)Act>Gct	p.T292A		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	292						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TGGTGCCTAGTGATGAACCGC	0.433																																																	0													83.0	82.0	82.0					5																	79854965		2203	4300	6503	SO:0001583	missense	0				CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.874A>G	5.37:g.79854965T>C	ENSP00000339802:p.Thr292Ala		B2RPH1|Q68D79	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T292A	ENST00000338682.3	37	c.874	CCDS34194.1	5	.	.	.	.	.	.	.	.	.	.	T	14.44	2.534892	0.45073	.	.	ENSG00000189127	ENST00000338682	T	0.19806	2.12	5.96	5.96	0.96718	.	0.080339	0.49916	D	0.000135	T	0.18800	0.0451	L	0.50919	1.6	0.43729	D	0.996219	P	0.39748	0.686	B	0.28305	0.088	T	0.02275	-1.1184	10	0.41790	T	0.15	-17.1769	15.2834	0.73806	0.0:0.0:0.0:1.0	.	292	A5PLL1	AN34B_HUMAN	A	292	ENSP00000339802:T292A	ENSP00000339802:T292A	T	-	1	0	ANKRD34B	79890721	1.000000	0.71417	0.997000	0.53966	0.908000	0.53690	4.017000	0.57167	2.285000	0.76669	0.533000	0.62120	ACT	ANKRD34B	-	NULL	ENSG00000189127		0.433	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34B	HGNC	protein_coding	OTTHUMT00000369475.1		0.00	30	0	T	NM_001004441		79854965	-1			no_errors	ENST00000338682	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	C
ANKRD42	338699	genome.wustl.edu	37	11	82935967	82935967	+	Silent	SNP	G	G	A	rs145591736		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:82935967G>A	ENST00000393392.2	+	6	735	c.573G>A	c.(571-573)acG>acA	p.T191T	ANKRD42_ENST00000533342.1_Silent_p.T219T|ANKRD42_ENST00000260047.6_Silent_p.T218T|ANKRD42_ENST00000531895.1_Silent_p.T219T	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	191					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)		p.T191T(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GCAGTGCGACGCAAGTTTTAA	0.393													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14204	0.0		0.0	False		,,,				2504	0.0																2	Substitution - coding silent(2)	large_intestine(1)|lung(1)						G		1,4405	2.1+/-5.4	0,1,2202	94.0	96.0	96.0		573	0.5	0.6	11	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous	ANKRD42	NM_182603.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		191/390	82935967	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.573G>A	11.37:g.82935967G>A			Q49A49	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.T191	ENST00000393392.2	37	c.573	CCDS8265.1	11																																																																																			ANKRD42	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000137494		0.393	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	ANKRD42	HGNC	protein_coding	OTTHUMT00000392934.1	-	0.00	100	0	G	NM_182603		82935967	+1	tier1	rs145591736	no_errors	ENST00000393392	ensembl	human	known	74_37	silent	18.39	71	16	SNP	0.074	A
ANKRD44	91526	genome.wustl.edu	37	2	197855536	197855536	+	Intron	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:197855536G>A	ENST00000282272.8	-	27	2899					NM_001195144.1	NP_001182073.1	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44											NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTAAACAAACGAAGTTGACAG	0.488																																																	0																																										SO:0001627	intron_variant	0			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000282272.8:c.2900-1163C>T	2.37:g.197855536G>A			Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	RNA	SNP	-	NULL	ENST00000282272.8	37	NULL		2																																																																																			ANKRD44	-	-	ENSG00000065413		0.488	ANKRD44-201	KNOWN	basic	protein_coding	ANKRD44	HGNC	protein_coding		-	0.00	51	0	G	NM_153697		197855536	-1	tier1	-	no_errors	ENST00000493808	ensembl	human	known	74_37	rna	25.64	29	10	SNP	1.000	A
ANKS3	124401	genome.wustl.edu	37	16	4747105	4747105	+	Splice_Site	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:4747105C>T	ENST00000304283.4	-	17	2189	c.1895G>A	c.(1894-1896)gGg>gAg	p.G632E	ANKS3_ENST00000446014.2_Splice_Site_p.G503E|ANKS3_ENST00000585773.1_Splice_Site_p.G559E	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	632										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						CAGTGCTTGCCCTGAGGAATG	0.652																																																	0													73.0	59.0	64.0					16																	4747105		2197	4299	6496	SO:0001630	splice_region_variant	0			AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.1895-1G>A	16.37:g.4747105C>T			B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt	p.G632E	ENST00000304283.4	37	c.1895	CCDS10520.1	16	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519735	0.85495	.	.	ENSG00000168096	ENST00000304283;ENST00000446014	T;T	0.38722	1.12;2.84	5.49	4.54	0.55810	.	0.060382	0.64402	D	0.000006	T	0.63838	0.2545	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68432	-0.5410	10	0.87932	D	0	.	13.4857	0.61364	0.0:0.9248:0.0:0.0752	.	632	Q6ZW76	ANKS3_HUMAN	E	632;503	ENSP00000304586:G632E;ENSP00000406796:G503E	ENSP00000304586:G632E	G	-	2	0	ANKS3	4687106	0.979000	0.34478	0.979000	0.43373	0.181000	0.23173	2.531000	0.45650	1.316000	0.45131	0.655000	0.94253	GGG	ANKS3	-	NULL	ENSG00000168096		0.652	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS3	HGNC	protein_coding	OTTHUMT00000251642.3	-	0.00	64	0	C	NM_133450	Missense_Mutation	4747105	-1	tier1	-	no_errors	ENST00000304283	ensembl	human	known	74_37	missense	29.51	43	18	SNP	0.997	T
AP1G1	164	genome.wustl.edu	37	16	71790060	71790060	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:71790060C>G	ENST00000299980.4	-	12	1532	c.1091G>C	c.(1090-1092)cGt>cCt	p.R364P	SNORD71_ENST00000411292.1_RNA|AP1G1_ENST00000393512.3_Missense_Mutation_p.R367P|AP1G1_ENST00000423132.2_Missense_Mutation_p.R367P|AP1G1_ENST00000433195.2_Missense_Mutation_p.R387P|AP1G1_ENST00000569748.1_Missense_Mutation_p.R364P	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	364					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TTCCATTGCACGCCTTGCAGA	0.373																																																	0													51.0	52.0	51.0					16																	71790060		2198	4300	6498	SO:0001583	missense	0			Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.1091G>C	16.37:g.71790060C>G	ENSP00000299980:p.Arg364Pro		O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app	p.R387P	ENST00000299980.4	37	c.1160	CCDS32480.1	16	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839704	0.91117	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000538574;ENST00000425422	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.25	5.25	0.73442	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	H	0.96777	3.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.993	T	0.82289	-0.0531	10	0.87932	D	0	-8.2758	18.8517	0.92235	0.0:1.0:0.0:0.0	.	364;387;367	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	P	364;367;367;387;235;449	ENSP00000299980:R364P;ENSP00000377148:R367P;ENSP00000409153:R367P;ENSP00000403259:R387P	ENSP00000299980:R364P	R	-	2	0	AP1G1	70347561	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.466000	0.80914	2.465000	0.83290	0.543000	0.68304	CGT	AP1G1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu	ENSG00000166747		0.373	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1G1	HGNC	protein_coding	OTTHUMT00000434147.1	-	0.00	49	0	C			71790060	-1	tier1	-	no_errors	ENST00000433195	ensembl	human	known	74_37	missense	20.75	42	11	SNP	1.000	G
AP3B2	8120	genome.wustl.edu	37	15	83349264	83349264	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:83349264C>T	ENST00000261722.3	-	8	1222	c.1015G>A	c.(1015-1017)Gtc>Atc	p.V339I	AP3B2_ENST00000535348.1_Missense_Mutation_p.V307I|AP3B2_ENST00000535359.1_Missense_Mutation_p.V339I|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	339				APKAEVGVIAKALVR -> GPRRKWRHRQGAGA (in Ref. 1; AAC50219). {ECO:0000305}.	anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TTGGCGATGACGCCCACTTCC	0.746																																																	0													2.0	3.0	3.0					15																	83349264		1512	3408	4920	SO:0001583	missense	0			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.1015G>A	15.37:g.83349264C>T	ENSP00000261722:p.Val339Ile		A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta	p.V339I	ENST00000261722.3	37	c.1015	CCDS45331.1	15	.	.	.	.	.	.	.	.	.	.	C	9.956	1.221353	0.22457	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.25912	1.77;1.77;1.77	4.65	3.74	0.42951	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.05914	0.0154	N	0.00611	-1.325	0.80722	D	1	B;B;B	0.28971	0.202;0.229;0.125	B;B;B	0.25140	0.027;0.058;0.058	T	0.29822	-0.9999	10	0.05436	T	0.98	-38.147	9.3291	0.38010	0.1433:0.7793:0.0:0.0774	.	307;339;339	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	I	339;307;339	ENSP00000261722:V339I;ENSP00000438721:V307I;ENSP00000440984:V339I	ENSP00000261722:V339I	V	-	1	0	AP3B2	81146318	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.706000	0.61845	1.175000	0.42826	0.561000	0.74099	GTC	AP3B2	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	ENSG00000103723		0.746	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B2	HGNC	protein_coding	OTTHUMT00000397463.1		0.00	9	0	C			83349264	-1			no_errors	ENST00000261722	ensembl	human	known	74_37	missense	46.15	7	6	SNP	1.000	T
APCDD1L	164284	genome.wustl.edu	37	20	57036333	57036333	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:57036333G>A	ENST00000371149.3	-	4	1249	c.1019C>T	c.(1018-1020)aCg>aTg	p.T340M	APCDD1L_ENST00000491015.1_5'UTR|APCDD1L_ENST00000439429.1_Missense_Mutation_p.T351M	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	340						integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GGTGGATGGCGTGCCCCTGGT	0.662																																																	0													31.0	31.0	31.0					20																	57036333		2201	4299	6500	SO:0001583	missense	0			AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.1019C>T	20.37:g.57036333G>A	ENSP00000360191:p.Thr340Met			Missense_Mutation	SNP	NULL	p.T351M	ENST00000371149.3	37	c.1052	CCDS13467.1	20	.	.	.	.	.	.	.	.	.	.	G	9.834	1.189173	0.21954	.	.	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.17691	2.26;2.26	4.36	-2.54	0.06307	.	0.824143	0.11405	N	0.567434	T	0.29588	0.0738	M	0.72118	2.19	0.09310	N	1	D;D	0.69078	0.997;0.994	P;P	0.60949	0.881;0.784	T	0.11916	-1.0568	10	0.45353	T	0.12	-7.3152	6.8235	0.23870	0.463:0.1192:0.4179:0.0	.	351;340	F5H6V6;Q8NCL9	.;APCDL_HUMAN	M	340;351	ENSP00000360191:T340M;ENSP00000413261:T351M	ENSP00000360191:T340M	T	-	2	0	APCDD1L	56469739	0.001000	0.12720	0.031000	0.17742	0.028000	0.11728	-0.201000	0.09464	-0.571000	0.06014	-0.986000	0.02555	ACG	APCDD1L	-	NULL	ENSG00000198768		0.662	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	APCDD1L	HGNC	protein_coding	OTTHUMT00000079881.2	-	0.00	72	0	G	NM_153360		57036333	-1	tier1	-	no_errors	ENST00000439429	ensembl	human	known	74_37	missense	41.98	47	34	SNP	0.011	A
APOB	338	genome.wustl.edu	37	2	21234673	21234673	+	Silent	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:21234673G>T	ENST00000233242.1	-	26	5194	c.5067C>A	c.(5065-5067)cgC>cgA	p.R1689R		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1689					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTCCCTGAAGCGGCCATTTG	0.498																																																	0													99.0	91.0	94.0					2																	21234673		2203	4300	6503	SO:0001819	synonymous_variant	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5067C>A	2.37:g.21234673G>T			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.R1689	ENST00000233242.1	37	c.5067	CCDS1703.1	2																																																																																			APOB	-	NULL	ENSG00000084674		0.498	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	-	0.00	35	0	G			21234673	-1	tier1	-	no_errors	ENST00000233242	ensembl	human	known	74_37	silent	17.86	23	5	SNP	0.995	T
APOBEC2	10930	genome.wustl.edu	37	6	41029167	41029167	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:41029167G>T	ENST00000244669.2	+	2	276	c.232G>T	c.(232-234)Ggc>Tgc	p.G78C		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	78					cytidine deamination (GO:0009972)|DNA demethylation (GO:0080111)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)		cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.G78S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGAAGCACAGGGCAAGGGGGG	0.547																																					Ovarian(118;1320 2185 8096 29684)												1	Substitution - Missense(1)	skin(1)											78.0	76.0	76.0					6																	41029167		2203	4300	6503	SO:0001583	missense	0			AF161698	CCDS4848.1	6p21	2008-02-05			ENSG00000124701	ENSG00000124701		"""Apolipoprotein B mRNA editing enzymes"""	605	protein-coding gene	gene with protein product		604797				10403781	Standard	NM_006789		Approved	ARCD1, ARP1	uc003opl.3	Q9Y235	OTTHUMG00000014670	ENST00000244669.2:c.232G>T	6.37:g.41029167G>T	ENSP00000244669:p.Gly78Cys		B2R899|Q53F28|Q5TGU5|Q5TGU6	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.G78C	ENST00000244669.2	37	c.232	CCDS4848.1	6	.	.	.	.	.	.	.	.	.	.	G	8.387	0.838947	0.16891	.	.	ENSG00000124701	ENST00000244669	T	0.66280	-0.2	5.69	-2.95	0.05564	APOBEC-like, N-terminal (1);	0.947459	0.09045	N	0.856729	T	0.42063	0.1186	M	0.72894	2.215	0.47476	D	0.999437	B	0.09022	0.002	B	0.09377	0.004	T	0.47995	-0.9073	10	0.62326	D	0.03	.	11.3279	0.49458	0.6053:0.0:0.3947:0.0	.	78	Q9Y235	ABEC2_HUMAN	C	78	ENSP00000244669:G78C	ENSP00000244669:G78C	G	+	1	0	APOBEC2	41137145	0.997000	0.39634	0.019000	0.16419	0.513000	0.34164	0.672000	0.25187	-1.110000	0.02992	-0.793000	0.03317	GGC	APOBEC2	-	pfam_APOBEC_N	ENSG00000124701		0.547	APOBEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC2	HGNC	protein_coding	OTTHUMT00000040498.1		0.00	49	0	G	NM_006789		41029167	+1			no_errors	ENST00000244669	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.589	T
APRT	353	genome.wustl.edu	37	16	88876151	88876151	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:88876151C>T	ENST00000378364.3	-	5	542	c.498G>A	c.(496-498)gaG>gaA	p.E166E	APRT_ENST00000426324.2_Intron|APRT_ENST00000563655.1_Silent_p.E139E	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	166					adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	GTGCCAGCTTCTCCCTGCCCT	0.607																																																	0													92.0	85.0	88.0					16																	88876151		2198	4300	6498	SO:0001819	synonymous_variant	0				CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741		ENST00000378364.3:c.498G>A	16.37:g.88876151C>T			G5E9J2|Q3KP55|Q68DF9	Silent	SNP	pfam_PRibTrfase_dom,tigrfam_Ade_phspho_trans	p.E166	ENST00000378364.3	37	c.498	CCDS32511.1	16																																																																																			APRT	-	tigrfam_Ade_phspho_trans	ENSG00000198931		0.607	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APRT	HGNC	protein_coding	OTTHUMT00000430000.2	-	0.00	32	0	C	NM_000485		88876151	-1	tier1	-	no_errors	ENST00000378364	ensembl	human	known	74_37	silent	25.81	23	8	SNP	1.000	T
ARID1A	8289	genome.wustl.edu	37	1	27057972	27057972	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:27057972C>A	ENST00000324856.7	+	3	2051	c.1680C>A	c.(1678-1680)taC>taA	p.Y560*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Y560*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Y177*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	560					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Y560*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGTCTCCTTACCAGCAGCAGC	0.637			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Substitution - Nonsense(1)	ovary(1)											166.0	170.0	168.0					1																	27057972		2203	4300	6503	SO:0001587	stop_gained	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1680C>A	1.37:g.27057972C>A	ENSP00000320485:p.Tyr560*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Y560*	ENST00000324856.7	37	c.1680	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983189	0.93044	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.44	4.52	0.55395	.	0.362332	0.29995	N	0.010667	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3077	13.444	0.61129	0.2853:0.7147:0.0:0.0	.	.	.	.	X	560;560;177	.	ENSP00000320485:Y560X	Y	+	3	2	ARID1A	26930559	0.998000	0.40836	1.000000	0.80357	0.889000	0.51656	1.034000	0.30204	1.505000	0.48720	-0.182000	0.12963	TAC	ARID1A	-	NULL	ENSG00000117713		0.637	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	-	0.00	77	0	C	NM_139135		27057972	+1	tier1	-	no_errors	ENST00000324856	ensembl	human	known	74_37	nonsense	20.75	42	11	SNP	1.000	A
ASF1A	25842	genome.wustl.edu	37	6	119228739	119228739	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:119228739C>T	ENST00000229595.5	+	4	769	c.575C>T	c.(574-576)tCa>tTa	p.S192L	MCM9_ENST00000316316.6_Intron	NM_014034.2	NP_054753.1	Q9Y294	ASF1A_HUMAN	anti-silencing function 1A histone chaperone	192	Required for interaction with HIRA.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|muscle cell differentiation (GO:0042692)|negative regulation of chromatin silencing (GO:0031936)|nucleosome assembly (GO:0006334)|osteoblast differentiation (GO:0001649)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		TCAGAAAACTCACTAAATGTC	0.393																																																	0													113.0	104.0	107.0					6																	119228739		1895	4115	6010	SO:0001583	missense	0			AF279306	CCDS47469.1	6q22.31	2013-05-01	2013-05-01		ENSG00000111875	ENSG00000111875			20995	protein-coding gene	gene with protein product		609189	"""ASF1 anti-silencing function 1 homolog A (S. cerevisiae)"""			10810093, 11042152	Standard	NM_014034		Approved	DKFZP547E2110, CIA	uc011ebn.2	Q9Y294	OTTHUMG00000015470	ENST00000229595.5:c.575C>T	6.37:g.119228739C>T	ENSP00000229595:p.Ser192Leu		Q6IA08|Q9P014	Missense_Mutation	SNP	pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like	p.S192L	ENST00000229595.5	37	c.575	CCDS47469.1	6	.	.	.	.	.	.	.	.	.	.	C	15.04	2.716652	0.48622	.	.	ENSG00000111875	ENST00000229595	.	.	.	6.01	6.01	0.97437	.	0.000000	0.64402	D	0.000015	T	0.28797	0.0714	N	0.08118	0	0.80722	D	1	B	0.28026	0.198	B	0.29862	0.108	T	0.15292	-1.0442	9	0.28530	T	0.3	-13.743	20.5211	0.99222	0.0:1.0:0.0:0.0	.	192	Q9Y294	ASF1A_HUMAN	L	192	.	ENSP00000229595:S192L	S	+	2	0	ASF1A	119270438	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.359000	0.66074	2.861000	0.98227	0.650000	0.86243	TCA	ASF1A	-	NULL	ENSG00000111875		0.393	ASF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASF1A	HGNC	protein_coding	OTTHUMT00000361910.1	-	0.00	57	0	C	NM_014034		119228739	+1	tier1	-	no_errors	ENST00000229595	ensembl	human	known	74_37	missense	44.12	19	15	SNP	1.000	T
ASIC2	40	genome.wustl.edu	37	17	31619013	31619013	+	Intron	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:31619013C>T	ENST00000359872.6	-	2	1317				ASIC2_ENST00000225823.2_Missense_Mutation_p.G41S|ASIC2_ENST00000448983.1_5'Flank	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2						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)	CCGCCTCTGCCGCCCCCGGGC	0.806																																																	0													1.0	1.0	1.0					17																	31619013		252	784	1036	SO:0001627	intron_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.556-179928G>A	17.37:g.31619013C>T			E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.G41S	ENST00000359872.6	37	c.121	CCDS42296.1	17	.	.	.	.	.	.	.	.	.	.	C	2.697	-0.271772	0.05716	.	.	ENSG00000108684	ENST00000225823	T	0.61980	0.06	3.71	1.62	0.23740	.	626.404000	0.00166	N	0.000005	T	0.41488	0.1161	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21109	-1.0255	10	0.14252	T	0.57	.	6.4209	0.21742	0.0:0.7038:0.1866:0.1096	.	41	E9PBX2	.	S	41	ENSP00000225823:G41S	ENSP00000225823:G41S	G	-	1	0	ACCN1	28643126	0.009000	0.17119	0.009000	0.14445	0.755000	0.42902	0.745000	0.26259	-0.334000	0.08463	0.289000	0.19496	GGC	ASIC2	-	NULL	ENSG00000108684		0.806	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC2	HGNC	protein_coding	OTTHUMT00000447552.1	-	0.00	17	0	C	NM_183377, NM_001094		31619013	-1	tier1	-	no_errors	ENST00000225823	ensembl	human	known	74_37	missense	26.92	19	7	SNP	0.679	T
ASZ1	136991	genome.wustl.edu	37	7	117003691	117003691	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:117003691A>T	ENST00000284629.2	-	13	1449	c.1387T>A	c.(1387-1389)Ttt>Att	p.F463I		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			AAAAGAAGAAAACCGAATCCG	0.318																																																	0													110.0	110.0	110.0					7																	117003691		2203	4299	6502	SO:0001583	missense	0			AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.1387T>A	7.37:g.117003691A>T	ENSP00000284629:p.Phe463Ile			Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.F463I	ENST00000284629.2	37	c.1387	CCDS5772.1	7	.	.	.	.	.	.	.	.	.	.	A	12.97	2.096343	0.36952	.	.	ENSG00000154438	ENST00000284629	T	0.65549	-0.16	5.23	2.97	0.34412	.	0.305652	0.36519	N	0.002556	T	0.38852	0.1056	N	0.17082	0.46	0.26395	N	0.976517	B;B	0.12013	0.002;0.005	B;B	0.06405	0.002;0.002	T	0.13845	-1.0494	10	0.33141	T	0.24	1.818	4.585	0.12279	0.6784:0.0:0.3216:0.0	.	454;463	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	I	463	ENSP00000284629:F463I	ENSP00000284629:F463I	F	-	1	0	ASZ1	116790927	0.050000	0.20438	0.997000	0.53966	0.687000	0.40016	-0.150000	0.10189	0.896000	0.36366	0.482000	0.46254	TTT	ASZ1	-	NULL	ENSG00000154438		0.318	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASZ1	HGNC	protein_coding	OTTHUMT00000138907.7	-	0.00	84	0	A	NM_130768		117003691	-1	tier1	-	no_errors	ENST00000284629	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.999	T
ATP10D	57205	genome.wustl.edu	37	4	47525147	47525147	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:47525147G>T	ENST00000273859.3	+	4	873	c.604G>T	c.(604-606)Gat>Tat	p.D202Y	ATP10D_ENST00000504445.1_Missense_Mutation_p.D202Y	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	202					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.D202N(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CACTGATCCAGATGGAATCTG	0.468																																																	1	Substitution - Missense(1)	skin(1)											129.0	112.0	118.0					4																	47525147		2203	4300	6503	SO:0001583	missense	0			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.604G>T	4.37:g.47525147G>T	ENSP00000273859:p.Asp202Tyr		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.D202Y	ENST00000273859.3	37	c.604	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788393	0.70337	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.74842	-0.88;-0.88	5.74	5.74	0.90152	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.128879	0.53938	D	0.000043	D	0.87229	0.6125	M	0.81942	2.565	0.32610	N	0.524681	D;P	0.64830	0.994;0.537	D;P	0.72982	0.979;0.653	D	0.89583	0.3822	10	0.66056	D	0.02	-23.1985	18.8998	0.92437	0.0:0.0:1.0:0.0	.	202;202	Q9P241;Q6PEW3	AT10D_HUMAN;.	Y	202	ENSP00000273859:D202Y;ENSP00000420909:D202Y	ENSP00000273859:D202Y	D	+	1	0	ATP10D	47219904	0.999000	0.42202	0.996000	0.52242	0.993000	0.82548	2.882000	0.48546	2.716000	0.92895	0.484000	0.47621	GAT	ATP10D	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000145246		0.468	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1		0.00	62	0	G	NM_020453		47525147	+1			no_errors	ENST00000273859	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.970	T
B3GAT1	27087	genome.wustl.edu	37	11	134253580	134253580	+	Silent	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:134253580G>A	ENST00000524765.1	-	3	5159	c.615C>T	c.(613-615)ttC>ttT	p.F205F	B3GAT1_ENST00000531510.1_5'Flank|B3GAT1_ENST00000312527.4_Silent_p.F205F|B3GAT1_ENST00000392580.1_Silent_p.F205F|B3GAT1_ENST00000537389.1_Silent_p.F218F			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	205					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		TCACCTCTTCGAAGAGCTCCA	0.697																																																	0													26.0	20.0	22.0					11																	134253580		2201	4296	6497	SO:0001819	synonymous_variant	0			AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.615C>T	11.37:g.134253580G>A			Q96FS7	Silent	SNP	pfam_Glyco_trans_43	p.F218	ENST00000524765.1	37	c.654	CCDS8500.1	11																																																																																			B3GAT1	-	pfam_Glyco_trans_43	ENSG00000109956		0.697	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	B3GAT1	HGNC	protein_coding	OTTHUMT00000393639.1	-	0.00	46	0	G	NM_018644		134253580	-1	tier1	-	no_errors	ENST00000537389	ensembl	human	known	74_37	silent	33.33	20	10	SNP	0.987	A
BAHCC1	57597	genome.wustl.edu	37	17	79412612	79412612	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:79412612C>T	ENST00000307745.7	+	14	3068	c.3068C>T	c.(3067-3069)gCc>gTc	p.A1023V																								GTCTGCCCTGCCAGCAGCCCC	0.687																																																	0													8.0	11.0	10.0					17																	79412612		1722	3792	5514	SO:0001583	missense	0																														ENST00000307745.7:c.3068C>T	17.37:g.79412612C>T	ENSP00000303486:p.Ala1023Val			Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.A1023V	ENST00000307745.7	37	c.3068		17	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277593	0.23307	.	.	ENSG00000171282	ENST00000307745	T	0.12774	2.65	4.39	2.28	0.28536	.	1.376050	0.05125	N	0.491424	T	0.10294	0.0252	N	0.19112	0.55	0.09310	N	1	B;B	0.29646	0.099;0.253	B;B	0.28232	0.04;0.087	T	0.38993	-0.9635	10	0.30078	T	0.28	.	8.5307	0.33333	0.1633:0.5194:0.3173:0.0	.	1023;1023	Q9P281;F8WBW8	BAHC1_HUMAN;.	V	1023	ENSP00000303486:A1023V	ENSP00000303486:A1023V	A	+	2	0	AC110285.1	77027207	0.000000	0.05858	0.000000	0.03702	0.362000	0.29581	0.982000	0.29539	0.426000	0.26116	0.491000	0.48974	GCC	RP11-1055B8.7	-	NULL	ENSG00000171282		0.687	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	Clone_based_vega_gene	protein_coding		-	0.00	58	0	C			79412612	+1	tier1	-	no_errors	ENST00000307745	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.002	T
BCO1	53630	genome.wustl.edu	37	16	81293400	81293401	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:81293400_81293401delAT	ENST00000258168.2	+	3	774_775	c.313_314delAT	c.(313-315)atafs	p.I105fs	BCMO1_ENST00000425577.2_Intron|BCMO1_ENST00000564552.1_Frame_Shift_Del_p.I105fs	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CTGCAAAAACATATTTTCCAAG	0.406																																																	0																																										SO:0001589	frameshift_variant	0																														ENST00000258168.2:c.313_314delAT	16.37:g.81293402_81293403delAT	ENSP00000258168:p.Ile105fs			Frame_Shift_Del	DEL	pfam_Carotenoid_Oase	p.S107fs	ENST00000258168.2	37	c.313_314	CCDS10934.1	16																																																																																			BCMO1	-	pfam_Carotenoid_Oase	ENSG00000135697		0.406	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCMO1	HGNC	protein_coding	OTTHUMT00000269056.1		0.00	79	0	AT			81293401	+1	tier1		no_errors	ENST00000258168	ensembl	human	known	74_37	frame_shift_del	20.34	47	12	DEL	1.000:1.000	-
BCOR	54880	genome.wustl.edu	37	X	39934109	39934110	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:39934109_39934110insT	ENST00000378444.4	-	4	717_718	c.489_490insA	c.(487-492)gcagaafs	p.E164fs	BCOR_ENST00000342274.4_Frame_Shift_Ins_p.E164fs|BCOR_ENST00000378455.4_Frame_Shift_Ins_p.E164fs|BCOR_ENST00000397354.3_Frame_Shift_Ins_p.E164fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	164					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCCAGCGCTTCTGCTGTGGCTA	0.525			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																																	Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0																																										SO:0001589	frameshift_variant	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.490dupA	X.37:g.39934110_39934110dupT	ENSP00000367705:p.Glu164fs		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E163fs	ENST00000378444.4	37	c.490_489	CCDS48093.1	X																																																																																			BCOR	-	NULL	ENSG00000183337		0.525	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2		0.00	35	0	-	NM_017745		39934110	-1	tier1		no_errors	ENST00000378444	ensembl	human	known	74_37	frame_shift_ins	82.35	9	42	INS	0.997:0.639	T
BDP1	55814	genome.wustl.edu	37	5	70808097	70808097	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:70808097G>T	ENST00000358731.4	+	18	4352	c.4089G>T	c.(4087-4089)atG>atT	p.M1363I	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1363					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGTCGATGATGCATACACCTG	0.303																																																	0													84.0	83.0	83.0					5																	70808097		1815	4077	5892	SO:0001583	missense	0			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.4089G>T	5.37:g.70808097G>T	ENSP00000351575:p.Met1363Ile		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.M1363I	ENST00000358731.4	37	c.4089	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536144	0.27475	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.08546	3.08	4.25	-3.7	0.04437	.	0.478743	0.17563	N	0.169749	T	0.03095	0.0091	N	0.19112	0.55	0.21020	N	0.999802	B;B	0.13145	0.003;0.007	B;B	0.14023	0.001;0.01	T	0.41627	-0.9498	10	0.12430	T	0.62	.	1.4304	0.02332	0.1746:0.1251:0.3207:0.3795	.	1363;1363	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	I	1363;943	ENSP00000351575:M1363I	ENSP00000351575:M1363I	M	+	3	0	BDP1	70843853	0.000000	0.05858	0.000000	0.03702	0.443000	0.32047	-0.422000	0.07043	-0.615000	0.05679	0.655000	0.94253	ATG	BDP1	-	NULL	ENSG00000145734		0.303	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	-	0.00	76	0	G	NM_018429		70808097	+1	tier1	-	no_errors	ENST00000358731	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.000	T
BDP1	55814	genome.wustl.edu	37	5	70860608	70860608	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:70860608G>A	ENST00000358731.4	+	39	8034	c.7771G>A	c.(7771-7773)Gaa>Aaa	p.E2591K	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2591					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CTTACTGAAAGAAGGATATAA	0.333																																																	0													97.0	96.0	96.0					5																	70860608		1784	4061	5845	SO:0001583	missense	0			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.7771G>A	5.37:g.70860608G>A	ENSP00000351575:p.Glu2591Lys		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.E2591K	ENST00000358731.4	37	c.7771	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628837	0.46944	.	.	ENSG00000145734	ENST00000358731	T	0.10192	2.9	5.58	4.72	0.59763	.	0.215475	0.32785	N	0.005647	T	0.12433	0.0302	L	0.53249	1.67	0.80722	D	1	P	0.40731	0.728	B	0.40256	0.324	T	0.04781	-1.0927	10	0.36615	T	0.2	.	10.4142	0.44311	0.0896:0.0:0.9104:0.0	.	2591	A6H8Y1	BDP1_HUMAN	K	2591	ENSP00000351575:E2591K	ENSP00000351575:E2591K	E	+	1	0	BDP1	70896364	1.000000	0.71417	0.617000	0.29091	0.113000	0.19764	3.263000	0.51546	1.372000	0.46190	-0.192000	0.12808	GAA	BDP1	-	NULL	ENSG00000145734		0.333	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	-	0.00	63	0	G	NM_018429		70860608	+1	tier1	-	no_errors	ENST00000358731	ensembl	human	known	74_37	missense	23.08	29	9	SNP	0.858	A
BIRC6	57448	genome.wustl.edu	37	2	32740345	32740345	+	Silent	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:32740345T>C	ENST00000421745.2	+	55	10991	c.10857T>C	c.(10855-10857)tcT>tcC	p.S3619S		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3619					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTTCTCAATCTCCTGAAGCTA	0.408																																					Pancreas(94;175 1509 16028 18060 45422)												0													112.0	111.0	112.0					2																	32740345		2203	4300	6503	SO:0001819	synonymous_variant	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10857T>C	2.37:g.32740345T>C			Q9ULD1	Silent	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.S3619	ENST00000421745.2	37	c.10857	CCDS33175.2	2																																																																																			BIRC6	-	NULL	ENSG00000115760		0.408	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	-	0.00	50	0	T	NM_016252		32740345	+1	tier1	-	no_errors	ENST00000421745	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.998	C
BRCA1	672	genome.wustl.edu	37	17	41276051	41276051	+	Silent	SNP	G	G	A	rs397509303		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:41276051G>A	ENST00000357654.3	-	2	181	c.63C>T	c.(61-63)atC>atT	p.I21I	BRCA1_ENST00000346315.3_Silent_p.I21I|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000468300.1_Silent_p.I21I|BRCA1_ENST00000586385.1_Intron|NBR2_ENST00000460115.1_RNA|BRCA1_ENST00000354071.3_Silent_p.I21I|BRCA1_ENST00000352993.3_Silent_p.I21I|BRCA1_ENST00000491747.2_Silent_p.I21I|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000493795.1_5'UTR|BRCA1_ENST00000471181.2_Silent_p.I21I|BRCA1_ENST00000351666.3_Silent_p.I21I|BRCA1_ENST00000309486.4_5'UTR	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	21			I -> V (unclassified).		androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GACACTCTAAGATTTTCTGCA	0.343			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																													yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0			GRCh37	CI023718	BRCA1	I							108.0	94.0	99.0					17																	41276051		2202	4300	6502	SO:0001819	synonymous_variant	0	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.63C>T	17.37:g.41276051G>A			O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Silent	SNP	pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING	p.I21	ENST00000357654.3	37	c.63	CCDS11453.1	17																																																																																			BRCA1	-	pirsf_BRCA1	ENSG00000012048		0.343	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	HGNC	protein_coding	OTTHUMT00000348798.2	-	0.00	27	0	G	NM_007294		41276051	-1	tier1	-	no_errors	ENST00000471181	ensembl	human	known	74_37	silent	17.65	42	9	SNP	1.000	A
BTN3A1	11119	genome.wustl.edu	37	6	26413495	26413495	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:26413495G>A	ENST00000289361.6	+	10	1485	c.1117G>A	c.(1117-1119)Gac>Aac	p.D373N	BTN3A1_ENST00000414912.2_Missense_Mutation_p.D321N	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	373	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGATCTGCCAGACAACCCTGA	0.512																																																	0													144.0	158.0	153.0					6																	26413495		2203	4300	6503	SO:0001583	missense	0			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1117G>A	6.37:g.26413495G>A	ENSP00000289361:p.Asp373Asn		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom	p.D373N	ENST00000289361.6	37	c.1117	CCDS4608.1	6	.	.	.	.	.	.	.	.	.	.	.	12.49	1.952897	0.34471	.	.	ENSG00000026950	ENST00000289361;ENST00000414912	T;T	0.15256	2.44;2.44	2.96	1.04	0.20106	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.10637	0.0260	L	0.48935	1.535	0.09310	N	1	P;D	0.57257	0.476;0.979	B;P	0.54759	0.285;0.76	T	0.10474	-1.0628	9	0.56958	D	0.05	.	4.7268	0.12945	0.138:0.4516:0.4104:0.0	.	321;373	E9PGB4;O00481	.;BT3A1_HUMAN	N	373;321	ENSP00000289361:D373N;ENSP00000406667:D321N	ENSP00000289361:D373N	D	+	1	0	BTN3A1	26521474	0.012000	0.17670	0.007000	0.13788	0.118000	0.20060	0.241000	0.18065	0.492000	0.27815	0.609000	0.83330	GAC	BTN3A1	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY	ENSG00000026950		0.512	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN3A1	HGNC	protein_coding	OTTHUMT00000040112.3	-	0.00	92	0	G			26413495	+1	tier1	-	no_errors	ENST00000289361	ensembl	human	known	74_37	missense	22.08	60	17	SNP	0.027	A
BUD13	84811	genome.wustl.edu	37	11	116631632	116631632	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:116631632G>A	ENST00000260210.4	-	5	1096	c.1073C>T	c.(1072-1074)tCt>tTt	p.S358F	BUD13_ENST00000375445.3_Missense_Mutation_p.S224F	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	358					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		ATGCCGTGGAGAAGAAAGGTC	0.473																																																	0													135.0	123.0	128.0					11																	116631632		2201	4296	6497	SO:0001583	missense	0			BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.1073C>T	11.37:g.116631632G>A	ENSP00000260210:p.Ser358Phe		A8K0S0|Q96LS7	Missense_Mutation	SNP	pfam_Bud13	p.S358F	ENST00000260210.4	37	c.1073	CCDS8374.1	11	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645102	0.47258	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.19532	2.14;2.15	6.11	3.88	0.44766	.	0.293199	0.37530	N	0.002052	T	0.30854	0.0778	L	0.50333	1.59	0.31607	N	0.652037	P;P;P	0.49783	0.579;0.928;0.579	B;P;B	0.53102	0.223;0.718;0.223	T	0.37291	-0.9712	10	0.87932	D	0	-10.2442	11.9482	0.52940	0.0728:0.0:0.8021:0.1251	.	358;224;358	A8K4Z6;Q9BRD0-2;Q9BRD0	.;.;BUD13_HUMAN	F	224;358	ENSP00000364594:S224F;ENSP00000260210:S358F	ENSP00000260210:S358F	S	-	2	0	BUD13	116136842	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	5.372000	0.66156	1.552000	0.49463	0.655000	0.94253	TCT	BUD13	-	NULL	ENSG00000137656		0.473	BUD13-001	KNOWN	basic|CCDS	protein_coding	BUD13	HGNC	protein_coding	OTTHUMT00000104864.1	-	0.00	98	0	G	NM_032725		116631632	-1	tier1	-	no_errors	ENST00000260210	ensembl	human	known	74_37	missense	26.60	68	25	SNP	1.000	A
MALRD1	340895	genome.wustl.edu	37	10	19498361	19498361	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:19498361G>A	ENST00000454679.2	+	3	631	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K				Q5VYJ5	MALR1_HUMAN		211	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cholesterol homeostasis (GO:0042632)|negative regulation of bile acid biosynthetic process (GO:0070858)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|lung(2)	3						TCTCTACATAGAATCTTCAGA	0.473																																																	0																																										SO:0001583	missense	0																														ENST00000454679.2:c.631G>A	10.37:g.19498361G>A	ENSP00000412763:p.Glu211Lys		B7ZBP2	Missense_Mutation	SNP	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt,prints_MAM_dom	p.E211K	ENST00000454679.2	37	c.631		10	.	.	.	.	.	.	.	.	.	.	G	30	5.053635	0.93793	.	.	ENSG00000204740	ENST00000377266;ENST00000454679	T;T	0.02446	4.29;4.29	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.10035	0.0246	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07908	-1.0748	6	.	.	.	-32.0331	18.2043	0.89850	0.0:0.0:1.0:0.0	.	.	.	.	K	224;211	ENSP00000366477:E224K;ENSP00000412763:E211K	.	E	+	1	0	C10orf112	19538367	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.365000	0.79537	2.504000	0.84457	0.650000	0.86243	GAA	C10orf112	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom	ENSG00000204740		0.473	C10orf112-201	KNOWN	basic|appris_principal	protein_coding	C10orf112	HGNC	protein_coding		-	0.00	51	0	G			19498361	+1	tier1	-	no_errors	ENST00000454679	ensembl	human	known	74_37	missense	16.07	47	9	SNP	1.000	A
C10orf71	118461	genome.wustl.edu	37	10	50530731	50530731	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:50530731C>T	ENST00000374144.3	+	3	429	c.141C>T	c.(139-141)tcC>tcT	p.S47S	C10orf71_ENST00000323868.4_Silent_p.S47S			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	47										endometrium(1)	1						AGGACACATCCTTCCATGACT	0.562																																																	0													47.0	51.0	50.0					10																	50530731		2105	4217	6322	SO:0001819	synonymous_variant	0			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.141C>T	10.37:g.50530731C>T			A0AVL8	Silent	SNP	NULL	p.S47	ENST00000374144.3	37	c.141	CCDS44387.1	10																																																																																			C10orf71	-	NULL	ENSG00000177354		0.562	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	HGNC	protein_coding	OTTHUMT00000047984.2	-	0.00	44	0	C	NM_199459		50530731	+1	tier1	-	no_errors	ENST00000374144	ensembl	human	known	74_37	silent	33.33	30	15	SNP	0.947	T
C1orf94	84970	genome.wustl.edu	37	1	34643651	34643651	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:34643651G>T	ENST00000488417.1	+	1	381	c.261G>T	c.(259-261)gaG>gaT	p.E87D	C1orf94_ENST00000373374.3_Intron|AC115286.1_ENST00000408126.1_RNA	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	87										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CCTCCATGGAGCAGCTCTCTG	0.547																																																	0													85.0	84.0	84.0					1																	34643651		692	1591	2283	SO:0001583	missense	0			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.261G>T	1.37:g.34643651G>T	ENSP00000435634:p.Glu87Asp		B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	NULL	p.E87D	ENST00000488417.1	37	c.261	CCDS44108.1	1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149800	0.57151	.	.	ENSG00000142698	ENST00000488417	T	0.52295	0.67	5.74	0.819	0.18785	.	.	.	.	.	T	0.33147	0.0853	L	0.44542	1.39	0.24613	N	0.993715	B	0.13594	0.008	B	0.13407	0.009	T	0.20273	-1.0280	9	0.22109	T	0.4	-26.7958	4.4633	0.11676	0.2747:0.2327:0.4926:0.0	.	87	Q6P1W5	CA094_HUMAN	D	87	ENSP00000435634:E87D	ENSP00000435634:E87D	E	+	3	2	C1orf94	34416238	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	1.099000	0.31013	0.782000	0.33613	-0.136000	0.14681	GAG	C1orf94	-	NULL	ENSG00000142698		0.547	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf94	HGNC	protein_coding	OTTHUMT00000036845.2		0.00	42	0	G	NM_032884		34643651	+1			no_errors	ENST00000488417	ensembl	human	known	74_37	missense	9.38	29	3	SNP	0.992	T
C1orf94	84970	genome.wustl.edu	37	1	34663145	34663145	+	Missense_Mutation	SNP	G	G	A	rs202207825		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:34663145G>A	ENST00000488417.1	+	2	760	c.640G>A	c.(640-642)Gcc>Acc	p.A214T	C1orf94_ENST00000373374.3_Missense_Mutation_p.A24T	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	214										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TCTGTGTGCCGCCGAGGTCAA	0.562																																																	0													81.0	72.0	75.0					1																	34663145		2203	4300	6503	SO:0001583	missense	0			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.640G>A	1.37:g.34663145G>A	ENSP00000435634:p.Ala214Thr		B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	NULL	p.A214T	ENST00000488417.1	37	c.640	CCDS44108.1	1	.	.	.	.	.	.	.	.	.	.	G	6.827	0.521702	0.13005	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.39406	1.08;1.08	4.98	3.11	0.35812	.	0.228743	0.30869	N	0.008713	T	0.27900	0.0687	L	0.31752	0.955	0.29099	N	0.881603	B	0.18013	0.025	B	0.15052	0.012	T	0.14671	-1.0464	10	0.38643	T	0.18	-11.7857	7.8188	0.29276	0.1947:0.0:0.8053:0.0	.	214	Q6P1W5	CA094_HUMAN	T	24;214	ENSP00000362472:A24T;ENSP00000435634:A214T	ENSP00000362472:A24T	A	+	1	0	C1orf94	34435732	0.788000	0.28762	0.675000	0.29917	0.025000	0.11179	1.389000	0.34453	0.508000	0.28173	-0.244000	0.11960	GCC	C1orf94	-	NULL	ENSG00000142698		0.562	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf94	HGNC	protein_coding	OTTHUMT00000036845.2	-	0.00	25	0	G	NM_032884		34663145	+1	tier1	rs202207825	no_errors	ENST00000488417	ensembl	human	known	74_37	missense	55.00	9	11	SNP	0.713	A
C2orf16	84226	genome.wustl.edu	37	2	27802662	27802662	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:27802662G>A	ENST00000408964.2	+	1	3274	c.3223G>A	c.(3223-3225)Gcc>Acc	p.A1075T	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1075						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCTTTCCCAGGCCAAGACTGA	0.458																																																	0													121.0	120.0	120.0					2																	27802662		1902	4130	6032	SO:0001583	missense	0			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3223G>A	2.37:g.27802662G>A	ENSP00000386190:p.Ala1075Thr		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	NULL	p.A1075T	ENST00000408964.2	37	c.3223	CCDS42666.1	2	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722751	0.30503	.	.	ENSG00000221843	ENST00000408964	T	0.08370	3.1	4.22	-0.117	0.13551	.	.	.	.	.	T	0.04137	0.0115	N	0.24115	0.695	0.22591	N	0.99895	P	0.37038	0.579	B	0.29353	0.101	T	0.37337	-0.9710	9	0.72032	D	0.01	.	1.9313	0.03328	0.1063:0.1768:0.3552:0.3617	.	1075	Q68DN1	CB016_HUMAN	T	1075	ENSP00000386190:A1075T	ENSP00000386190:A1075T	A	+	1	0	C2orf16	27656166	0.233000	0.23772	0.761000	0.31378	0.039000	0.13416	0.262000	0.18460	0.089000	0.17243	0.195000	0.17529	GCC	C2orf16	-	NULL	ENSG00000221843		0.458	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1		0.00	34	0	G	NM_032266		27802662	+1			no_errors	ENST00000408964	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.543	A
C5orf34	375444	genome.wustl.edu	37	5	43494614	43494614	+	Silent	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:43494614T>C	ENST00000306862.2	-	7	1617	c.1242A>G	c.(1240-1242)acA>acG	p.T414T	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	414										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					GAACTTACCTTGTTGCCTGTT	0.363																																																	0													88.0	86.0	86.0					5																	43494614		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.1242A>G	5.37:g.43494614T>C				Silent	SNP	NULL	p.T414	ENST00000306862.2	37	c.1242	CCDS3946.1	5																																																																																			C5orf34	-	NULL	ENSG00000172244		0.363	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf34	HGNC	protein_coding	OTTHUMT00000253843.1	-	0.00	51	0	T	NM_198566		43494614	-1	tier1	-	no_errors	ENST00000306862	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.912	C
C5orf56	441108	genome.wustl.edu	37	5	131811657	131811657	+	3'UTR	SNP	A	A	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:131811657A>G	ENST00000464024.1	+	0	822				AC116366.6_ENST00000443093.2_RNA|C5orf56_ENST00000378953.4_3'UTR			Q8N8D9	CE056_HUMAN	chromosome 5 open reading frame 56											breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						GCTCATCTGTATTTCTTACTC	0.353																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC130299		5q31.1	2009-04-20			ENSG00000197536	ENSG00000197536			33838	protein-coding gene	gene with protein product							Standard	NR_045116		Approved		uc010jds.2	Q8N8D9	OTTHUMG00000059493	ENST00000464024.1:c.*819A>G	5.37:g.131811657A>G			A1L3V9|A6NKA0	RNA	SNP	-	NULL	ENST00000464024.1	37	NULL		5																																																																																			C5orf56	-	-	ENSG00000197536		0.353	C5orf56-006	PUTATIVE	basic|exp_conf	processed_transcript	C5orf56	HGNC	protein_coding	OTTHUMT00000132334.1	-	0.00	58	0	A	NM_001013717		131811657	+1	tier1	-	no_errors	ENST00000464024	ensembl	human	putative	74_37	rna	27.45	37	14	SNP	0.000	G
ZBED8	63920	genome.wustl.edu	37	5	159821727	159821727	+	Silent	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:159821727G>T	ENST00000408953.3	-	2	1278	c.771C>A	c.(769-771)gcC>gcA	p.A257A	C5orf54_ENST00000523213.1_Silent_p.A257A	NM_022090.3	NP_071373.2														breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						ttttcacgtaggcaacaaact	0.403																																																	0													137.0	130.0	133.0					5																	159821727		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000408953.3:c.771C>A	5.37:g.159821727G>T				Silent	SNP	superfamily_RNaseH-like_dom	p.A257	ENST00000408953.3	37	c.771	CCDS34283.1	5																																																																																			C5orf54	-	superfamily_RNaseH-like_dom	ENSG00000221886		0.403	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf54	HGNC	protein_coding	OTTHUMT00000374143.1		0.00	33	0	G			159821727	-1			no_errors	ENST00000408953	ensembl	human	known	74_37	silent	8.33	22	2	SNP	0.981	T
CACTIN	58509	genome.wustl.edu	37	19	3624063	3624063	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:3624063C>T	ENST00000429344.2	-	2	317	c.265G>A	c.(265-267)Gac>Aac	p.D89N	CACTIN_ENST00000221899.3_Missense_Mutation_p.D21N|CACTIN_ENST00000248420.5_Missense_Mutation_p.D89N	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	89					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										TCTCCTGAGTCCGACTGAGAG	0.677																																																	0													47.0	56.0	53.0					19																	3624063		1992	4132	6124	SO:0001583	missense	0			BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.265G>A	19.37:g.3624063C>T	ENSP00000415078:p.Asp89Asn		A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Missense_Mutation	SNP	pfam_Cactin_dom,pfam_Cactin_C	p.D21N	ENST00000429344.2	37	c.61	CCDS45920.1	19	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045765	0.36085	.	.	ENSG00000105298	ENST00000429344;ENST00000248420;ENST00000221899	.	.	.	4.81	4.81	0.61882	.	0.532999	0.16263	U	0.222149	T	0.28200	0.0696	L	0.44542	1.39	0.23138	N	0.998233	P	0.37781	0.608	B	0.32980	0.156	T	0.28522	-1.0041	9	0.66056	D	0.02	.	8.5455	0.33419	0.0:0.8888:0.0:0.1112	.	89	Q8WUQ7	CS029_HUMAN	N	89;89;21	.	ENSP00000221899:D21N	D	-	1	0	C19orf29	3575063	0.090000	0.21635	0.891000	0.34965	0.015000	0.08874	0.402000	0.20965	2.227000	0.72691	0.561000	0.74099	GAC	CACTIN	-	NULL	ENSG00000105298		0.677	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACTIN	HGNC	protein_coding	OTTHUMT00000457370.2	-	0.00	54	0	C			3624063	-1	tier1	-	no_errors	ENST00000221899	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.553	T
CAD	790	genome.wustl.edu	37	2	27454356	27454356	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:27454356C>T	ENST00000403525.1	+	15	2263	c.2119C>T	c.(2119-2121)Cgt>Tgt	p.R707C	CAD_ENST00000464159.1_3'UTR|CAD_ENST00000264705.4_Missense_Mutation_p.R770C			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCATTGGGCGTTCATTTGA	0.512																																																	0													146.0	123.0	131.0					2																	27454356		2203	4300	6503	SO:0001583	missense	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2119C>T	2.37:g.27454356C>T	ENSP00000384510:p.Arg707Cys		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.R770C	ENST00000403525.1	37	c.2308		2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409476	0.83340	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.95821	-3.82;-3.82	5.46	5.46	0.80206	ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthase, large subunit, CPS-domain (1);	0.000000	0.85682	D	0.000000	D	0.98902	0.9628	H	0.99900	4.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.98336	1.0536	10	0.87932	D	0	-2.2227	12.0939	0.53744	0.2653:0.7347:0.0:0.0	.	707;770	F8VPD4;P27708	.;PYR1_HUMAN	C	770;707	ENSP00000264705:R770C;ENSP00000384510:R707C	ENSP00000264705:R770C	R	+	1	0	CAD	27307860	0.996000	0.38824	0.997000	0.53966	0.999000	0.98932	3.464000	0.53057	2.733000	0.93635	0.655000	0.94253	CGT	CAD	-	prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu	ENSG00000084774		0.512	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	-	0.00	69	0	C			27454356	+1	tier1	-	no_errors	ENST00000264705	ensembl	human	known	74_37	missense	26.32	42	15	SNP	1.000	T
CADM3	57863	genome.wustl.edu	37	1	159162426	159162426	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:159162426C>T	ENST00000368125.4	+	3	445	c.288C>T	c.(286-288)agC>agT	p.S96S	CADM3_ENST00000368124.4_Silent_p.S130S	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	96	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TCAGCATCAGCATCAGCAATG	0.527																																																	0													165.0	132.0	143.0					1																	159162426		2203	4300	6503	SO:0001819	synonymous_variant	0			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.288C>T	1.37:g.159162426C>T			Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom	p.S130	ENST00000368125.4	37	c.390	CCDS44251.1	1																																																																																			CADM3	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000162706		0.527	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CADM3	HGNC	protein_coding	OTTHUMT00000090330.1	-	0.00	39	0	C	NM_021189		159162426	+1	tier1	-	no_errors	ENST00000368124	ensembl	human	known	74_37	silent	42.22	26	19	SNP	1.000	T
CAPN2	824	genome.wustl.edu	37	1	223958169	223958169	+	Silent	SNP	C	C	T	rs369952708		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:223958169C>T	ENST00000295006.5	+	18	2154	c.1845C>T	c.(1843-1845)gaC>gaT	p.D615D	CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Silent_p.D537D	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	615	Domain IV.|EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		GAGAAATCGACGTTGACAGGT	0.418																																																	0								C	,	1,4405	2.1+/-5.4	0,1,2202	84.0	77.0	79.0		1611,1845	-3.6	0.1	1		79	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CAPN2	NM_001146068.1,NM_001748.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	537/623,615/701	223958169	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1845C>T	1.37:g.223958169C>T			A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.D615	ENST00000295006.5	37	c.1845	CCDS31035.1	1																																																																																			CAPN2	-	pfscan_EF_hand_dom	ENSG00000162909		0.418	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN2	HGNC	protein_coding	OTTHUMT00000090973.1	-	0.00	51	0	C	NM_001748		223958169	+1	tier1	-	no_errors	ENST00000295006	ensembl	human	known	74_37	silent	16.39	51	10	SNP	0.151	T
CASK	8573	genome.wustl.edu	37	X	41519766	41519766	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:41519766C>T	ENST00000378163.1	-	8	1231	c.757G>A	c.(757-759)Gta>Ata	p.V253I	CASK_ENST00000421587.2_Missense_Mutation_p.V253I|CASK_ENST00000442742.2_Missense_Mutation_p.V253I|CASK_ENST00000378158.1_Missense_Mutation_p.V253I|CASK_ENST00000378166.4_Missense_Mutation_p.V253I|CASK_ENST00000318588.9_Missense_Mutation_p.V253I|CASK_ENST00000361962.4_Missense_Mutation_p.V253I|CASK_ENST00000378154.1_Missense_Mutation_p.V253I			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						ATGCGACGTACTAGGTCTTTG	0.443																																					NSCLC(42;104 1086 3090 27189 35040)												0													200.0	136.0	158.0					X																	41519766		2203	4300	6503	SO:0001583	missense	0			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.757G>A	X.37:g.41519766C>T	ENSP00000367405:p.Val253Ile		A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Guanylate_kin-like	p.V253I	ENST00000378163.1	37	c.757		X	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060443	0.76074	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378158;ENST00000378166;ENST00000442742;ENST00000378154	T;T;T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02	5.48	5.48	0.80851	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	D	0.000248	T	0.46964	0.1420	N	0.03608	-0.345	0.80722	D	1	B;B;B;B	0.33280	0.006;0.405;0.038;0.023	B;B;B;B	0.39840	0.002;0.311;0.017;0.021	T	0.52155	-0.8613	10	0.34782	T	0.22	.	18.391	0.90483	0.0:1.0:0.0:0.0	.	253;253;253;253	O14936-3;O14936-4;O14936-2;O14936	.;.;.;CSKP_HUMAN	I	253	ENSP00000400526:V253I;ENSP00000322727:V253I;ENSP00000354641:V253I;ENSP00000367405:V253I;ENSP00000367400:V253I;ENSP00000367408:V253I;ENSP00000398007:V253I;ENSP00000367396:V253I	ENSP00000322727:V253I	V	-	1	0	CASK	41404710	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	7.487000	0.81328	2.283000	0.76528	0.594000	0.82650	GTA	CASK	-	pfam_Prot_kinase_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_dom	ENSG00000147044		0.443	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	CASK	HGNC	protein_coding	OTTHUMT00000056285.1	-	0.00	37	0	C	NM_003688		41519766	-1	tier1	-	no_errors	ENST00000378163	ensembl	human	known	74_37	missense	75.51	12	37	SNP	1.000	T
CAPN6	827	genome.wustl.edu	37	X	110496350	110496350	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:110496350C>G	ENST00000324068.1	-	4	559	c.392G>C	c.(391-393)tGg>tCg	p.W131S	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	131	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CACTTCAGTCCATTCTCCAAA	0.423																																																	0													146.0	127.0	133.0					X																	110496350		2203	4300	6503	SO:0001583	missense	0			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.392G>C	X.37:g.110496350C>G	ENSP00000317214:p.Trp131Ser		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.W131S	ENST00000324068.1	37	c.392	CCDS14555.1	X	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637918	0.87760	.	.	ENSG00000077274	ENST00000324068	D	0.93488	-3.23	5.97	5.97	0.96955	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.98182	0.9399	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99208	1.0875	10	0.87932	D	0	.	19.371	0.94484	0.0:1.0:0.0:0.0	.	131	Q9Y6Q1	CAN6_HUMAN	S	131	ENSP00000317214:W131S	ENSP00000317214:W131S	W	-	2	0	CAPN6	110383006	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.527000	0.85204	0.600000	0.82982	TGG	CAPN6	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	ENSG00000077274		0.423	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN6	HGNC	protein_coding	OTTHUMT00000057922.1	-	0.00	43	0	C			110496350	-1	tier1	-	no_errors	ENST00000324068	ensembl	human	known	74_37	missense	12.20	36	5	SNP	1.000	G
CASS4	57091	genome.wustl.edu	37	20	55027468	55027468	+	Silent	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:55027468G>A	ENST00000360314.3	+	6	1461	c.1236G>A	c.(1234-1236)tcG>tcA	p.S412S	CASS4_ENST00000371336.3_Silent_p.S412S|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	412	Ser-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TCGTTTCCTCGTGCTCCACCA	0.542																																																	0													55.0	45.0	48.0					20																	55027468		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1236G>A	20.37:g.55027468G>A			E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Silent	SNP	pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.S412	ENST00000360314.3	37	c.1236	CCDS33492.1	20																																																																																			CASS4	-	NULL	ENSG00000087589		0.542	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASS4	HGNC	protein_coding	OTTHUMT00000079789.2	-	0.00	13	0	G	NM_020356		55027468	+1	tier1	-	no_errors	ENST00000360314	ensembl	human	known	74_37	silent	55.56	8	10	SNP	0.000	A
CBWD6	644019	genome.wustl.edu	37	9	69205673	69205673	+	Intron	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:69205673T>C	ENST00000377457.5	-	14	1057				CBWD6_ENST00000382399.4_Intron|CBWD6_ENST00000468061.1_Intron|CBWD6_ENST00000377449.1_Intron	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6								ATP binding (GO:0005524)			lung(4)	4						ATGGATTAATTACTGATATTC	0.284																																																	0																																										SO:0001627	intron_variant	0				CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.952-87A>G	9.37:g.69205673T>C				RNA	SNP	-	NULL	ENST00000377457.5	37	NULL	CCDS43827.1	9																																																																																			CBWD6	-	-	ENSG00000204790		0.284	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	CBWD6	HGNC	protein_coding	OTTHUMT00000143172.2	-	0.00	92	0	T	XM_928822		69205673	-1	tier1	-	no_errors	ENST00000477430	ensembl	human	known	74_37	rna	20.00	64	16	SNP	0.001	C
CCDC30	728621	genome.wustl.edu	37	1	43110423	43110423	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:43110423A>T	ENST00000340612.4	+	12	1835	c.1835A>T	c.(1834-1836)cAg>cTg	p.Q612L	CCDC30_ENST00000428554.2_Missense_Mutation_p.Q612L|CCDC30_ENST00000507855.1_Missense_Mutation_p.Q401L|CCDC30_ENST00000390640.4_Missense_Mutation_p.Q401L|CCDC30_ENST00000342022.4_Missense_Mutation_p.Q612L			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	612						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						CGTCTCACACAGCAGATTGGC	0.398																																																	0													130.0	115.0	120.0					1																	43110423		2203	4300	6503	SO:0001583	missense	0			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1835A>T	1.37:g.43110423A>T	ENSP00000340378:p.Gln612Leu		Q14F06|Q5VVM5	Missense_Mutation	SNP	NULL	p.Q612L	ENST00000340612.4	37	c.1835	CCDS30690.1	1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.180363	0.57800	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.5	5.5	0.81552	.	0.744756	0.13210	N	0.405236	T	0.57504	0.2058	L	0.54323	1.7	0.30697	N	0.750707	D;D	0.67145	0.995;0.996	D;D	0.63877	0.919;0.918	T	0.59010	-0.7534	10	0.59425	D	0.04	.	12.2949	0.54840	1.0:0.0:0.0:0.0	.	612;401	Q5VVM6;Q5VVM6-2	CCD30_HUMAN;.	L	612;401;612;612;401	ENSP00000397035:Q612L;ENSP00000426711:Q401L;ENSP00000340378:Q612L;ENSP00000339280:Q612L;ENSP00000375051:Q401L	ENSP00000340378:Q612L	Q	+	2	0	CCDC30	42883010	0.266000	0.24112	0.072000	0.20136	0.506000	0.33950	2.372000	0.44257	2.216000	0.71823	0.533000	0.62120	CAG	CCDC30	-	NULL	ENSG00000186409		0.398	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC30	HGNC	protein_coding	OTTHUMT00000019524.3	-	0.00	67	0	A	NM_025030		43110423	+1	tier1	-	no_errors	ENST00000340612	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.819	T
CCDC50	152137	genome.wustl.edu	37	3	191093190	191093190	+	Intron	SNP	G	G	A	rs534593003		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:191093190G>A	ENST00000392455.3	+	6	1046				CCDC50_ENST00000392456.3_Missense_Mutation_p.R263Q	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50							cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		CATCAGACTCGAAATTGGGAA	0.488																																																	0													97.0	88.0	91.0					3																	191093190		2203	4300	6503	SO:0001627	intron_variant	0			AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.449-4758G>A	3.37:g.191093190G>A			Q86VH7	Missense_Mutation	SNP	NULL	p.R263Q	ENST00000392455.3	37	c.788	CCDS33913.1	3	.	.	.	.	.	.	.	.	.	.	G	11.10	1.540445	0.27563	.	.	ENSG00000152492	ENST00000392456	T	0.32515	1.45	5.78	1.82	0.25136	.	0.446213	0.19208	N	0.120016	T	0.20007	0.0481	.	.	.	0.09310	N	1	B	0.20988	0.05	B	0.13407	0.009	T	0.16424	-1.0403	9	0.33141	T	0.24	.	9.4196	0.38544	0.0769:0.4073:0.5158:0.0	.	263	Q8IVM0-2	.	Q	263	ENSP00000376250:R263Q	ENSP00000376250:R263Q	R	+	2	0	CCDC50	192575884	0.000000	0.05858	0.053000	0.19242	0.042000	0.13812	-0.355000	0.07671	0.350000	0.24002	0.655000	0.94253	CGA	CCDC50	-	NULL	ENSG00000152492		0.488	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC50	HGNC	protein_coding	OTTHUMT00000343315.1		0.00	36	0	G	NM_174908		191093190	+1			no_errors	ENST00000392456	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.007	A
CCT5	22948	genome.wustl.edu	37	5	10263283	10263283	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:10263283C>T	ENST00000280326.4	+	10	1775	c.1355C>T	c.(1354-1356)gCc>gTc	p.A452V	CTD-2256P15.4_ENST00000606194.1_RNA|CCT5_ENST00000515676.1_Missense_Mutation_p.A414V|CCT5_ENST00000506600.1_Missense_Mutation_p.A359V|CCT5_ENST00000503026.1_Missense_Mutation_p.A431V|CCT5_ENST00000515390.1_Missense_Mutation_p.A397V	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	452					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						AGAGCGTTTGCCGACGCACTG	0.542																																																	0													112.0	99.0	104.0					5																	10263283		2203	4300	6503	SO:0001583	missense	0			D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.1355C>T	5.37:g.10263283C>T	ENSP00000280326:p.Ala452Val		A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi	p.A452V	ENST00000280326.4	37	c.1355	CCDS3877.1	5	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181512	0.78677	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.93782	0.8012	H	0.98542	4.26	0.80722	D	1	P;P;B;B	0.50272	0.931;0.933;0.114;0.114	P;P;B;B	0.62184	0.899;0.527;0.256;0.256	D	0.95743	0.8785	10	0.87932	D	0	-25.2908	18.7471	0.91797	0.0:1.0:0.0:0.0	.	359;397;452;452	B4DYD8;E7ENZ3;A8K2X8;P48643	.;.;.;TCPE_HUMAN	V	452;431;397;425;414;359	ENSP00000280326:A452V;ENSP00000423318:A431V;ENSP00000426923:A397V;ENSP00000427297:A414V;ENSP00000423052:A359V	ENSP00000280326:A452V	A	+	2	0	CCT5	10316283	1.000000	0.71417	0.210000	0.23637	0.084000	0.17831	7.329000	0.79170	2.663000	0.90544	0.558000	0.71614	GCC	CCT5	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_epsi	ENSG00000150753		0.542	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT5	HGNC	protein_coding	OTTHUMT00000253688.2	-	0.00	40	0	C			10263283	+1	tier1	-	no_errors	ENST00000280326	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T
CD1E	913	genome.wustl.edu	37	1	158324252	158324252	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:158324252C>G	ENST00000368167.3	+	2	383	c.144C>G	c.(142-144)caC>caG	p.H48Q	CD1E_ENST00000368160.3_Missense_Mutation_p.H48Q|CD1E_ENST00000368156.1_Missense_Mutation_p.H48Q|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.H48Q|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.H48Q|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.H48Q|CD1E_ENST00000434258.1_Missense_Mutation_p.H46Q|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368155.3_Missense_Mutation_p.H48Q	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	48					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TTGCCAACCACAGCTGGGCAC	0.582																																																	0													92.0	96.0	94.0					1																	158324252		2183	4297	6480	SO:0001583	missense	0			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.144C>G	1.37:g.158324252C>G	ENSP00000357149:p.His48Gln		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.H48Q	ENST00000368167.3	37	c.144	CCDS41417.1	1	.	.	.	.	.	.	.	.	.	.	C	9.966	1.224031	0.22457	.	.	ENSG00000158488	ENST00000434258;ENST00000368167;ENST00000368165;ENST00000368163;ENST00000368160;ENST00000368161;ENST00000368156;ENST00000368155	T;T;T;T;T;T;T;T	0.06528	3.29;3.29;3.47;3.29;3.29;3.29;3.67;3.64	3.62	1.68	0.24146	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.861189	0.09688	N	0.768830	T	0.01092	0.0036	L	0.27053	0.805	0.58432	D	0.999999	B;B;P;B;B;B;B;B	0.37955	0.006;0.244;0.612;0.018;0.006;0.297;0.1;0.049	B;B;B;B;B;B;B;B	0.30716	0.004;0.056;0.119;0.01;0.004;0.05;0.033;0.032	T	0.52873	-0.8517	10	0.10902	T	0.67	-3.2355	4.6416	0.12552	0.213:0.6706:0.0:0.1164	.	46;48;48;48;48;48;48;48	E7ET31;P15812-5;P15812-7;P15812-2;P15812;P15812-3;P15812-6;P15812-4	.;.;.;.;CD1E_HUMAN;.;.;.	Q	46;48;48;48;48;48;48;48	ENSP00000401957:H46Q;ENSP00000357149:H48Q;ENSP00000357147:H48Q;ENSP00000357145:H48Q;ENSP00000357142:H48Q;ENSP00000357143:H48Q;ENSP00000357138:H48Q;ENSP00000357137:H48Q	ENSP00000357137:H48Q	H	+	3	2	CD1E	156590876	0.079000	0.21365	0.953000	0.39169	0.946000	0.59487	0.031000	0.13710	0.485000	0.27652	0.563000	0.77884	CAC	CD1E	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000158488		0.582	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD1E	HGNC	protein_coding	OTTHUMT00000046353.3	-	0.00	29	0	C	NM_030893		158324252	+1	tier1	-	no_errors	ENST00000368167	ensembl	human	known	74_37	missense	48.15	14	13	SNP	0.966	G
CD4	920	genome.wustl.edu	37	12	6926358	6926358	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:6926358C>T	ENST00000011653.4	+	7	1276	c.1018C>T	c.(1018-1020)Ctg>Ttg	p.L340L		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	340	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	TAAGCTGATGCTGAGTTTGAA	0.567																																																	0													84.0	65.0	71.0					12																	6926358		2203	4300	6503	SO:0001819	synonymous_variant	0			M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.1018C>T	12.37:g.6926358C>T			B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Silent	SNP	pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Ag_CD4	p.L340	ENST00000011653.4	37	c.1018	CCDS8562.1	12																																																																																			CD4	-	pfam_Ig_C2-set	ENSG00000010610		0.567	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD4	HGNC	protein_coding	OTTHUMT00000399978.1	-	0.00	73	0	C	NM_000616		6926358	+1	tier1	-	no_errors	ENST00000011653	ensembl	human	known	74_37	silent	42.86	28	21	SNP	0.955	T
CDC5L	988	genome.wustl.edu	37	6	44387254	44387254	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:44387254G>T	ENST00000371477.3	+	9	1460	c.1161G>T	c.(1159-1161)ttG>ttT	p.L387F		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	387	Interaction with PPP1R8.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATACCCCATTGCATGAGAGTG	0.443																																																	0													157.0	137.0	144.0					6																	44387254		2203	4300	6503	SO:0001583	missense	0			D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1161G>T	6.37:g.44387254G>T	ENSP00000360532:p.Leu387Phe		Q76N46|Q99974	Missense_Mutation	SNP	pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.L387F	ENST00000371477.3	37	c.1161	CCDS4912.1	6	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871287	0.72065	.	.	ENSG00000096401	ENST00000371477	T	0.59224	0.28	5.57	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.71813	0.3384	M	0.90977	3.165	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.77851	-0.2434	10	0.87932	D	0	-6.2165	8.3126	0.32080	0.0723:0.0:0.6623:0.2654	.	387	Q99459	CDC5L_HUMAN	F	387	ENSP00000360532:L387F	ENSP00000360532:L387F	L	+	3	2	CDC5L	44495232	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	1.837000	0.39201	1.319000	0.45190	0.563000	0.77884	TTG	CDC5L	-	pfam_DUF3351	ENSG00000096401		0.443	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC5L	HGNC	protein_coding	OTTHUMT00000040743.1	-	0.00	42	0	G			44387254	+1	tier1	-	no_errors	ENST00000371477	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T
CHD9	80205	genome.wustl.edu	37	16	53272290	53272290	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:53272290G>A	ENST00000398510.3	+	11	2756	c.2669G>A	c.(2668-2670)gGc>gAc	p.G890D	CHD9_ENST00000447540.1_Missense_Mutation_p.G890D|CHD9_ENST00000564845.1_Missense_Mutation_p.G890D|CHD9_ENST00000566029.1_Missense_Mutation_p.G890D			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	890	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATGGGTCTTGGCAAAACTATT	0.333																																																	0													82.0	76.0	78.0					16																	53272290		1830	4083	5913	SO:0001583	missense	0			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.2669G>A	16.37:g.53272290G>A	ENSP00000381522:p.Gly890Asp		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G890D	ENST00000398510.3	37	c.2669		16	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928182	0.92389	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.99940	-8.38;-8.38	5.18	5.18	0.71444	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000012	D	0.99964	0.9986	H	0.99874	4.875	0.80722	D	1	D;D;D;D	0.89917	0.994;0.999;1.0;1.0	D;D;D;D	0.97110	0.989;0.991;1.0;0.999	D	0.96285	0.9209	10	0.87932	D	0	-7.4671	18.7082	0.91646	0.0:0.0:1.0:0.0	.	416;890;890;890	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	D	890;890;416	ENSP00000396345:G890D;ENSP00000381522:G890D	ENSP00000219084:G416D	G	+	2	0	CHD9	51829791	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.807000	0.99171	2.420000	0.82092	0.585000	0.79938	GGC	CHD9	-	pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000177200		0.333	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1	-	0.00	58	0	G	NM_025134		53272290	+1	tier1	-	no_errors	ENST00000398510	ensembl	human	known	74_37	missense	26.19	31	11	SNP	1.000	A
CENPT	80152	genome.wustl.edu	37	16	67866432	67866432	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:67866432G>A	ENST00000562787.1	-	5	675	c.127C>T	c.(127-129)Ctt>Ttt	p.L43F	CENPT_ENST00000562947.1_5'Flank|CENPT_ENST00000564817.1_Missense_Mutation_p.L43F|CENPT_ENST00000219172.3_Missense_Mutation_p.L43F|CENPT_ENST00000440851.2_Missense_Mutation_p.L43F|CENPT_ENST00000445712.2_5'UTR	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	43					chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GCCGTTTCAAGCAGGGCTCTC	0.547																																																	0													58.0	61.0	60.0					16																	67866432		1946	4120	6066	SO:0001583	missense	0			AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.127C>T	16.37:g.67866432G>A	ENSP00000457810:p.Leu43Phe		Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	superfamily_Histone-fold	p.L43F	ENST00000562787.1	37	c.127	CCDS42182.1	16	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321860	0.41096	.	.	ENSG00000102901	ENST00000440851;ENST00000219172	T;T	0.51574	0.7;0.7	4.41	2.45	0.29901	.	0.644635	0.14396	N	0.322223	T	0.45337	0.1337	M	0.68317	2.08	0.09310	N	0.999991	P;P	0.44044	0.825;0.825	B;B	0.43103	0.408;0.289	T	0.33189	-0.9878	10	0.46703	T	0.11	-1.4467	6.1785	0.20457	0.2276:0.0:0.7724:0.0	.	43;43	Q96BT3;B3KPB2	CENPT_HUMAN;.	F	43	ENSP00000400140:L43F;ENSP00000219172:L43F	ENSP00000219172:L43F	L	-	1	0	CENPT	66423933	0.152000	0.22762	0.007000	0.13788	0.323000	0.28346	0.611000	0.24268	0.788000	0.33755	0.655000	0.94253	CTT	CENPT	-	NULL	ENSG00000102901		0.547	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPT	HGNC	protein_coding	OTTHUMT00000422020.1	-	0.00	54	0	G	NM_025082		67866432	-1	tier1	-	no_errors	ENST00000219172	ensembl	human	known	74_37	missense	48.89	23	22	SNP	0.010	A
CDH13	1012	genome.wustl.edu	37	16	83250962	83250962	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:83250962G>A	ENST00000566620.1	+	5	786	c.496G>A	c.(496-498)Gac>Aac	p.D166N	CDH13_ENST00000428848.3_Missense_Mutation_p.D127N|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Missense_Mutation_p.D213N	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	166	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AGTCGATAGTGACAGGCCAGA	0.448																																																	0													91.0	87.0	88.0					16																	83250962		1876	4105	5981	SO:0001583	missense	0			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.496G>A	16.37:g.83250962G>A	ENSP00000454435:p.Asp166Asn		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D166N	ENST00000566620.1	37	c.496	CCDS58486.1	16	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620903	0.87460	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143	T	0.74002	-0.8	5.77	5.77	0.91146	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.81555	0.4847	M	0.62209	1.925	0.80722	D	1	D;P;B	0.56521	0.976;0.622;0.439	P;B;B	0.54664	0.758;0.306;0.275	T	0.82995	-0.0180	9	0.72032	D	0.01	.	17.4882	0.87694	0.0:0.0:1.0:0.0	.	127;213;166	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	N	213;166;127	ENSP00000268613:D213N	ENSP00000268613:D213N	D	+	1	0	CDH13	81808463	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	6.540000	0.73861	2.720000	0.93068	0.557000	0.71058	GAC	CDH13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000140945		0.448	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH13	HGNC	protein_coding	OTTHUMT00000432917.1	-	0.00	74	0	G	NM_001257		83250962	+1	tier1	-	no_errors	ENST00000566620	ensembl	human	known	74_37	missense	52.11	34	37	SNP	1.000	A
CHRFAM7A	89832	genome.wustl.edu	37	15	30659629	30659629	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:30659629G>T	ENST00000299847.2	-	9	1165	c.712C>A	c.(712-714)Ccc>Acc	p.P238T	CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.P147T|CHRFAM7A_ENST00000397827.3_Missense_Mutation_p.P147T	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	238						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		ACCCACTTGGGCATCTTGCCC	0.582																																																	0													46.0	47.0	47.0					15																	30659629		2191	4280	6471	SO:0001583	missense	0			AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.712C>A	15.37:g.30659629G>T	ENSP00000299847:p.Pro238Thr		A8KAB9	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	p.P238T	ENST00000299847.2	37	c.712	CCDS32184.1	15	.	.	.	.	.	.	.	.	.	.	.	17.31	3.356640	0.61293	.	.	ENSG00000166664	ENST00000299847;ENST00000397827;ENST00000401522	D;D;D	0.86497	-2.13;-2.13;-2.13	3.09	3.09	0.35607	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.048689	0.85682	D	0.000000	D	0.93478	0.7919	M	0.88906	2.99	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.94190	0.7440	10	0.87932	D	0	.	12.0452	0.53475	0.0:0.0:1.0:0.0	.	238	Q494W8	CRFM7_HUMAN	T	238;147;147	ENSP00000299847:P238T;ENSP00000380927:P147T;ENSP00000385389:P147T	ENSP00000299847:P238T	P	-	1	0	CHRFAM7A	28446921	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	9.105000	0.94246	1.461000	0.47929	0.184000	0.17185	CCC	CHRFAM7A	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000166664		0.582	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRFAM7A	HGNC	protein_coding	OTTHUMT00000430700.1	-	0.00	41	0	G	NM_148911		30659629	-1	tier1	-	no_errors	ENST00000299847	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T
CIITA	4261	genome.wustl.edu	37	16	11000762	11000762	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:11000762C>T	ENST00000324288.8	+	11	1546	c.1413C>T	c.(1411-1413)tcC>tcT	p.S471S	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	471	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TGCTCTTCTCCCTGGGCCCAC	0.602			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																			Dom	yes		16	16p13	4261	"""class II, major histocompatibility complex, transactivator"""		L	0													66.0	66.0	66.0					16																	11000762		2197	4300	6497	SO:0001819	synonymous_variant	0			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.1413C>T	16.37:g.11000762C>T			A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact	p.S471	ENST00000324288.8	37	c.1413	CCDS10544.1	16																																																																																			CIITA	-	superfamily_P-loop_NTPase,pfscan_NACHT_NTPase	ENSG00000179583		0.602	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIITA	HGNC	protein_coding	OTTHUMT00000251966.2	-	0.00	35	0	C	NM_000246		11000762	+1	tier1	-	no_errors	ENST00000324288	ensembl	human	known	74_37	silent	32.08	36	17	SNP	0.001	T
CIT	11113	genome.wustl.edu	37	12	120222019	120222019	+	Intron	SNP	A	A	C	rs576028347		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:120222019A>C	ENST00000261833.7	-	12	1454				CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Intron	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase						cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		AGGAGCGCACAGTTCTTCGTT	0.483																																																	0													73.0	67.0	69.0					12																	120222019		876	1991	2867	SO:0001627	intron_variant	0			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.1402-164T>G	12.37:g.120222019A>C			Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	RNA	SNP	-	NULL	ENST00000261833.7	37	NULL	CCDS9192.1	12																																																																																			CIT	-	-	ENSG00000122966		0.483	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	HGNC	protein_coding	OTTHUMT00000259410.4	-	0.00	56	0	A	NM_007174		120222019	-1	tier1	-	no_errors	ENST00000537607	ensembl	human	known	74_37	rna	40.82	29	20	SNP	0.997	C
CLDN12	9069	genome.wustl.edu	37	7	90042487	90042487	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:90042487A>G	ENST00000287916.4	+	3	784	c.497A>G	c.(496-498)gAg>gGg	p.E166G	CTB-13L3.1_ENST00000480135.1_RNA|CLDN12_ENST00000394605.2_Missense_Mutation_p.E166G|CLDN12_ENST00000535571.1_Missense_Mutation_p.E166G	NM_001185073.2|NM_012129.4	NP_001172002.1|NP_036261.1	P56749	CLD12_HUMAN	claudin 12	166					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						AAGAAGTTTGAGCCAGTCTTT	0.438																																																	0													191.0	182.0	185.0					7																	90042487		2203	4300	6503	SO:0001583	missense	0			AJ250713	CCDS5618.1	7q21	2008-07-18			ENSG00000157224	ENSG00000157224		"""Claudins"""	2034	protein-coding gene	gene with protein product		611232					Standard	NM_001185072		Approved		uc003ukr.3	P56749	OTTHUMG00000156612	ENST00000287916.4:c.497A>G	7.37:g.90042487A>G	ENSP00000287916:p.Glu166Gly		D6W5Q4|Q7LDZ0	Missense_Mutation	SNP	prints_Claudin12	p.E166G	ENST00000287916.4	37	c.497	CCDS5618.1	7	.	.	.	.	.	.	.	.	.	.	A	11.77	1.736534	0.30774	.	.	ENSG00000157224	ENST00000422604;ENST00000416322;ENST00000496677;ENST00000287916;ENST00000535571;ENST00000394604;ENST00000394605	T;T;T;T;T;T	0.75938	-0.81;-0.98;-0.98;-0.98;-0.72;-0.98	5.45	4.27	0.50696	.	0.148106	0.64402	D	0.000011	T	0.51890	0.1701	N	0.08118	0	0.45718	D	0.998622	B	0.09022	0.002	B	0.04013	0.001	T	0.46582	-0.9181	10	0.51188	T	0.08	-10.4959	7.1112	0.25390	0.7774:0.1493:0.0733:0.0	.	166	P56749	CLD12_HUMAN	G	166	ENSP00000411399:E166G;ENSP00000419053:E166G;ENSP00000287916:E166G;ENSP00000443476:E166G;ENSP00000378102:E166G;ENSP00000378103:E166G	ENSP00000287916:E166G	E	+	2	0	CLDN12	89880423	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.780000	0.55386	1.035000	0.39972	0.533000	0.62120	GAG	CLDN12	-	NULL	ENSG00000157224		0.438	CLDN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN12	HGNC	protein_coding	OTTHUMT00000059221.1	-	0.00	33	0	A	NM_012129		90042487	+1	tier1	-	no_errors	ENST00000287916	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	G
CMKLR1	1240	genome.wustl.edu	37	12	108686358	108686358	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:108686358A>C	ENST00000312143.7	-	3	745	c.382T>G	c.(382-384)Ttc>Gtc	p.F128V	CMKLR1_ENST00000552995.1_Missense_Mutation_p.F126V|CMKLR1_ENST00000412676.1_Missense_Mutation_p.F128V|CMKLR1_ENST00000550402.1_Missense_Mutation_p.F128V|CMKLR1_ENST00000397688.2_Missense_Mutation_p.F126V	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	128					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GTCAGCAGGAAGACGCTGGTG	0.557																																																	0													99.0	104.0	102.0					12																	108686358		2164	4278	6442	SO:0001583	missense	0			U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.382T>G	12.37:g.108686358A>C	ENSP00000311733:p.Phe128Val		A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt	p.F128V	ENST00000312143.7	37	c.382	CCDS44965.1	12	.	.	.	.	.	.	.	.	.	.	a	16.83	3.231819	0.58777	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402;ENST00000550573;ENST00000549466	T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.23	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.176474	0.51477	D	0.000099	T	0.67097	0.2857	M	0.92412	3.305	0.46701	D	0.999167	D	0.63046	0.992	D	0.66351	0.943	T	0.70517	-0.4850	10	0.87932	D	0	.	8.0674	0.30669	0.8306:0.0:0.1694:0.0	.	128	Q99788	CML1_HUMAN	V	128;128;126;126;128;128;128	ENSP00000311733:F128V;ENSP00000401293:F128V;ENSP00000380803:F126V;ENSP00000447579:F126V;ENSP00000449716:F128V;ENSP00000448925:F128V;ENSP00000448362:F128V	ENSP00000311733:F128V	F	-	1	0	CMKLR1	107210488	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	4.378000	0.59568	0.829000	0.34733	0.398000	0.26397	TTC	CMKLR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_ATII_rcpt	ENSG00000174600		0.557	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMKLR1	HGNC	protein_coding	OTTHUMT00000404867.1	-	0.00	39	0	A			108686358	-1	tier1	-	no_errors	ENST00000312143	ensembl	human	known	74_37	missense	23.91	35	11	SNP	1.000	C
CNTN4	152330	genome.wustl.edu	37	3	3084090	3084090	+	Missense_Mutation	SNP	G	G	T	rs183942017	byFrequency	TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:3084090G>T	ENST00000397461.1	+	20	2879	c.2495G>T	c.(2494-2496)cGa>cTa	p.R832L	CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000418658.1_Missense_Mutation_p.R832L|CNTN4_ENST00000397459.2_Missense_Mutation_p.R504L|CNTN4_ENST00000358480.3_Missense_Mutation_p.R613L|CNTN4_ENST00000448906.2_Missense_Mutation_p.R504L|CNTN4_ENST00000427331.1_Missense_Mutation_p.R832L	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	832	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AATAGAGGACGAATACAAGGT	0.463																																																	0													90.0	87.0	88.0					3																	3084090		2203	4300	6503	SO:0001583	missense	0			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2495G>T	3.37:g.3084090G>T	ENSP00000380602:p.Arg832Leu		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R832L	ENST00000397461.1	37	c.2495	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900378	0.92035	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42	5.61	5.61	0.85477	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68650	0.3024	L	0.52011	1.625	0.80722	D	1	P;D	0.76494	0.934;0.999	P;D	0.70935	0.834;0.971	T	0.66019	-0.6027	10	0.46703	T	0.11	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	831;832	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	L	832;832;832;613;504;504	ENSP00000396010:R832L;ENSP00000380602:R832L;ENSP00000413642:R832L;ENSP00000351267:R613L;ENSP00000380600:R504L;ENSP00000392077:R504L	ENSP00000351267:R613L	R	+	2	0	CNTN4	3059090	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.578000	0.90777	2.793000	0.96121	0.655000	0.94253	CGA	CNTN4	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000144619		0.463	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	-	0.00	44	0	G			3084090	+1	tier1	-	no_errors	ENST00000397461	ensembl	human	known	74_37	missense	23.81	32	10	SNP	1.000	T
CNTN3	5067	genome.wustl.edu	37	3	74411155	74411155	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:74411155T>G	ENST00000263665.6	-	10	1277	c.1250A>C	c.(1249-1251)aAg>aCg	p.K417T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	417	Ig-like C2-type 5.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTGAACCAACTTCTTCATTGG	0.473																																																	0													64.0	69.0	67.0					3																	74411155		2203	4300	6503	SO:0001583	missense	0			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1250A>C	3.37:g.74411155T>G	ENSP00000263665:p.Lys417Thr		B9EK50|Q9H039	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.K417T	ENST00000263665.6	37	c.1250	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	T	14.92	2.678446	0.47886	.	.	ENSG00000113805	ENST00000263665	T	0.69561	-0.41	5.71	4.54	0.55810	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.239916	0.42964	D	0.000635	T	0.56062	0.1960	L	0.41961	1.31	0.29403	N	0.861774	B	0.14438	0.01	B	0.22152	0.038	T	0.51419	-0.8708	10	0.33141	T	0.24	.	9.0758	0.36519	0.0:0.1443:0.0:0.8557	.	417	Q9P232	CNTN3_HUMAN	T	417	ENSP00000263665:K417T	ENSP00000263665:K417T	K	-	2	0	CNTN3	74493845	0.893000	0.30496	0.817000	0.32601	0.989000	0.77384	1.790000	0.38734	2.178000	0.69098	0.482000	0.46254	AAG	CNTN3	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000113805		0.473	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	-	0.00	37	0	T	NM_020872		74411155	-1	tier1	-	no_errors	ENST00000263665	ensembl	human	known	74_37	missense	44.19	24	19	SNP	0.703	G
COL1A2	1278	genome.wustl.edu	37	7	94052362	94052362	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:94052362G>A	ENST00000297268.6	+	40	2968	c.2497G>A	c.(2497-2499)Gaa>Aaa	p.E833K		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	833			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		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)	CCGAACTGGAGAAGTAGGTGC	0.562										HNSCC(75;0.22)																																							0													154.0	143.0	147.0					7																	94052362		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.2497G>A	7.37:g.94052362G>A	ENSP00000297268:p.Glu833Lys		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_dom,smart_Fib_collagen_C	p.E833K	ENST00000297268.6	37	c.2497	CCDS34682.1	7	.	.	.	.	.	.	.	.	.	.	G	34	5.300266	0.95574	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.94184	-3.37	5.23	5.23	0.72850	.	0.054577	0.64402	D	0.000001	D	0.91452	0.7302	L	0.48642	1.525	0.80722	D	1	B	0.29136	0.234	B	0.29524	0.103	D	0.89484	0.3752	10	0.51188	T	0.08	.	19.1875	0.93649	0.0:0.0:1.0:0.0	.	833	P08123	CO1A2_HUMAN	K	833;834	ENSP00000297268:E833K	ENSP00000297268:E833K	E	+	1	0	COL1A2	93890298	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	8.011000	0.88624	2.614000	0.88457	0.563000	0.77884	GAA	COL1A2	-	NULL	ENSG00000164692		0.562	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A2	HGNC	protein_coding	OTTHUMT00000309045.2	-	0.00	61	0	G	NM_000089		94052362	+1	tier1	-	no_errors	ENST00000297268	ensembl	human	known	74_37	missense	30.23	30	13	SNP	1.000	A
COL6A3	1293	genome.wustl.edu	37	2	238280852	238280852	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:238280852G>A	ENST00000295550.4	-	9	4260	c.3808C>T	c.(3808-3810)Cgg>Tgg	p.R1270W	COL6A3_ENST00000472056.1_Missense_Mutation_p.R663W|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1070W|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1069W|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1064W|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1064W|COL6A3_ENST00000392004.3_Missense_Mutation_p.R1064W|COL6A3_ENST00000392003.2_Missense_Mutation_p.R863W	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1270	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACAGCCACCCGGGTGGTGTCA	0.592																																																	0													49.0	45.0	46.0					2																	238280852		2203	4300	6503	SO:0001583	missense	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3808C>T	2.37:g.238280852G>A	ENSP00000295550:p.Arg1270Trp		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.R1270W	ENST00000295550.4	37	c.3808	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808642	0.70797	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46	5.73	4.84	0.62591	von Willebrand factor, type A (3);	0.000000	0.49916	D	0.000134	T	0.80460	0.4627	H	0.95224	3.64	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999	D	0.86389	0.1734	10	0.66056	D	0.02	.	14.9917	0.71393	0.0:0.0:0.7409:0.2591	.	663;863;1064;1064;1270	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	W	1270;1069;1064;663;1064;1070;1064;863	ENSP00000295550:R1270W;ENSP00000315609:R1069W;ENSP00000315873:R1064W;ENSP00000418285:R663W;ENSP00000386844:R1064W;ENSP00000295546:R1070W;ENSP00000375861:R1064W;ENSP00000375860:R863W	ENSP00000295550:R1270W	R	-	1	2	COL6A3	237945591	1.000000	0.71417	0.995000	0.50966	0.774000	0.43823	1.058000	0.30504	1.390000	0.46547	0.655000	0.94253	CGG	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.592	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	-	0.00	59	0	G	NM_004369		238280852	-1	tier1	-	no_errors	ENST00000295550	ensembl	human	known	74_37	missense	29.17	17	7	SNP	1.000	A
COMMD4	54939	genome.wustl.edu	37	15	75628657	75628657	+	Intron	SNP	A	A	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:75628657A>C	ENST00000267935.8	+	1	202				COMMD4_ENST00000561662.1_3'UTR|COMMD4_ENST00000564815.1_Intron|COMMD4_ENST00000338995.6_Intron|COMMD4_ENST00000562789.1_Intron|COMMD4_ENST00000567195.1_Intron	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4							cytoplasm (GO:0005737)				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						GCCGGCTTAGAGTCCCGGTGC	0.672																																																	0																																										SO:0001627	intron_variant	0			AY542160	CCDS10277.1, CCDS66834.1, CCDS66835.1, CCDS73764.1	15q24.2	2012-09-20			ENSG00000140365	ENSG00000140365			26027	protein-coding gene	gene with protein product						15799966	Standard	XM_005254511		Approved	FLJ20452	uc002azy.3	Q9H0A8	OTTHUMG00000142823	ENST00000267935.8:c.3+224A>C	15.37:g.75628657A>C			B2RBN4|H3BUL2|Q7L637|Q9NX43	RNA	SNP	-	NULL	ENST00000267935.8	37	NULL	CCDS10277.1	15																																																																																			COMMD4	-	-	ENSG00000140365		0.672	COMMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD4	HGNC	protein_coding	OTTHUMT00000286414.1	-	0.00	17	0	A	NM_017828		75628657	+1	tier1	-	no_errors	ENST00000561662	ensembl	human	known	74_37	rna	22.22	14	4	SNP	0.000	C
CPEB2	132864	genome.wustl.edu	37	4	15004737	15004739	+	5'Flank	DEL	CCT	CCT	-			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:15004737_15004739delCCT	ENST00000507071.1	+	0	0				CPEB2_ENST00000259997.5_5'Flank|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000345451.3_5'Flank|CPEB2_ENST00000442003.2_In_Frame_Del_p.S151del|CPEB2_ENST00000382401.3_5'Flank|CPEB2_ENST00000541112.1_In_Frame_Del_p.S151del|CPEB2_ENST00000538197.1_In_Frame_Del_p.S151del|CPEB2_ENST00000382395.3_5'Flank			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2						cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						CTGCACCACCcctcctcctcctc	0.67																																																	0																																										SO:0001631	upstream_gene_variant	0			AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"""RNA binding motif (RRM) containing"""	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669		4.37:g.15004746_15004748delCCT	Exception_encountered		E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	In_Frame_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S151in_frame_del	ENST00000507071.1	37	c.440_442		4																																																																																			CPEB2	-	NULL	ENSG00000137449		0.670	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	CPEB2	HGNC	protein_coding	OTTHUMT00000207349.2		0.00	21	0	CCT	XM_059607		15004739	+1	tier1		no_errors	ENST00000538197	ensembl	human	known	74_37	in_frame_del	25.00	6	2	DEL	1.000:1.000:0.998	-
CPXCR1	53336	genome.wustl.edu	37	X	88008520	88008520	+	Silent	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:88008520T>C	ENST00000276127.4	+	3	364	c.105T>C	c.(103-105)tcT>tcC	p.S35S	CPXCR1_ENST00000373111.1_Silent_p.S35S	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	35							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						AGTCTCCATCTGCTGATCCCA	0.433																																																	0													43.0	38.0	40.0					X																	88008520		2203	4300	6503	SO:0001819	synonymous_variant	0			AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.105T>C	X.37:g.88008520T>C			B2R9F9|D3DTE7|Q96RS3	Silent	SNP	pfscan_Znf_C2H2	p.S35	ENST00000276127.4	37	c.105	CCDS14458.1	X																																																																																			CPXCR1	-	NULL	ENSG00000147183		0.433	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXCR1	HGNC	protein_coding	OTTHUMT00000057418.1	-	0.00	44	0	T	NM_033048		88008520	+1	tier1	-	no_errors	ENST00000276127	ensembl	human	known	74_37	silent	85.37	6	35	SNP	0.000	C
CRTC1	23373	genome.wustl.edu	37	19	18885765	18885765	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:18885765C>T	ENST00000321949.8	+	12	1507	c.1481C>T	c.(1480-1482)gCg>gTg	p.A494V	CRTC1_ENST00000594658.1_Missense_Mutation_p.A453V|CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000338797.6_Missense_Mutation_p.A510V	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CAGCAGATGGCGGCCAGGCAG	0.672																																																	0													93.0	77.0	82.0					19																	18885765		2203	4300	6503	SO:0001583	missense	0			AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1481C>T	19.37:g.18885765C>T	ENSP00000323332:p.Ala494Val			Missense_Mutation	SNP	NULL	p.A510V	ENST00000321949.8	37	c.1529	CCDS32963.1	19	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666433	0.47677	.	.	ENSG00000105662	ENST00000338797;ENST00000321949	T;T	0.16324	2.35;2.35	3.28	3.28	0.37604	.	0.733878	0.12779	N	0.439837	T	0.09158	0.0226	N	0.14661	0.345	0.31737	N	0.636345	P;B	0.41450	0.75;0.303	B;B	0.33521	0.165;0.079	T	0.07868	-1.0750	10	0.18276	T	0.48	-2.3381	13.6832	0.62499	0.0:1.0:0.0:0.0	.	510;494	Q6UUV9-2;Q6UUV9	.;CRTC1_HUMAN	V	510;494	ENSP00000345001:A510V;ENSP00000323332:A494V	ENSP00000323332:A494V	A	+	2	0	CRTC1	18746765	1.000000	0.71417	0.976000	0.42696	0.966000	0.64601	6.956000	0.76013	1.679000	0.50963	0.313000	0.20887	GCG	CRTC1	-	NULL	ENSG00000105662		0.672	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CRTC1	HGNC	protein_coding	OTTHUMT00000465151.3	-	0.00	53	0	C	NM_025021		18885765	+1	tier1	-	no_errors	ENST00000338797	ensembl	human	known	74_37	missense	29.73	26	11	SNP	0.995	T
CSMD3	114788	genome.wustl.edu	37	8	113249507	113249507	+	Silent	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:113249507G>T	ENST00000297405.5	-	67	10783	c.10539C>A	c.(10537-10539)ccC>ccA	p.P3513P	CSMD3_ENST00000455883.2_Silent_p.P3344P|CSMD3_ENST00000352409.3_Silent_p.P3443P|CSMD3_ENST00000343508.3_Silent_p.P3473P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3513						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTAAGGTCATGGGTTGTTTCC	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													202.0	183.0	189.0					8																	113249507		2203	4300	6503	SO:0001819	synonymous_variant	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10539C>A	8.37:g.113249507G>T			Q96PZ3	Silent	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.P3513	ENST00000297405.5	37	c.10539	CCDS6315.1	8																																																																																			CSMD3	-	NULL	ENSG00000164796		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0.00	52	0	G	NM_052900		113249507	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	silent	10.29	61	7	SNP	0.755	T
CSMD3	114788	genome.wustl.edu	37	8	114111053	114111053	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:114111053A>C	ENST00000297405.5	-	5	1093	c.849T>G	c.(847-849)ttT>ttG	p.F283L	CSMD3_ENST00000455883.2_Missense_Mutation_p.F283L|CSMD3_ENST00000352409.3_Missense_Mutation_p.F283L|CSMD3_ENST00000343508.3_Missense_Mutation_p.F243L|CSMD3_ENST00000519485.1_5'UTR	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	283	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAAAATCAGTAAATATGAGTG	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													99.0	95.0	96.0					8																	114111053		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.849T>G	8.37:g.114111053A>C	ENSP00000297405:p.Phe283Leu		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.F283L	ENST00000297405.5	37	c.849	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	A	16.87	3.241481	0.58995	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.4	5.4	0.78164	CUB (5);	0.000000	0.64402	D	0.000001	T	0.67720	0.2923	M	0.90252	3.1	0.30553	N	0.765312	B;D;D;D	0.69078	0.152;0.996;0.997;0.995	B;D;D;D	0.80764	0.08;0.98;0.994;0.986	T	0.72994	-0.4122	10	0.54805	T	0.06	.	10.1376	0.42717	0.925:0.0:0.075:0.0	.	283;283;283;243	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	L	243;283;283;283	ENSP00000345799:F243L;ENSP00000297405:F283L;ENSP00000412263:F283L;ENSP00000343124:F283L	ENSP00000297405:F283L	F	-	3	2	CSMD3	114180229	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.966000	0.49208	2.182000	0.69389	0.528000	0.53228	TTT	CSMD3	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0.00	58	0	A	NM_052900		114111053	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	23.73	45	14	SNP	1.000	C
CTNNA2	1496	genome.wustl.edu	37	2	80136780	80136780	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:80136780G>T	ENST00000402739.4	+	6	918	c.913G>T	c.(913-915)Gag>Tag	p.E305*	CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.E305*|CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.E339*|CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.E305*|CTNNA2_ENST00000466387.1_Nonsense_Mutation_p.E305*|CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.E305*	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	305					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.E305K(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GTCCCTGGAGGAGAGGCTGGA	0.597																																																	2	Substitution - Missense(2)	lung(2)											60.0	65.0	63.0					2																	80136780		1993	4186	6179	SO:0001587	stop_gained	0				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.913G>T	2.37:g.80136780G>T	ENSP00000384638:p.Glu305*		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Nonsense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.E339*	ENST00000402739.4	37	c.1015		2	.	.	.	.	.	.	.	.	.	.	G	41	9.072864	0.99057	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	19.6081	0.95588	0.0:0.0:1.0:0.0	.	.	.	.	X	305;305;339;305;305;305	.	ENSP00000355398:E339X	E	+	1	0	CTNNA2	79990288	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.860000	0.99555	2.652000	0.90054	0.591000	0.81541	GAG	CTNNA2	-	pfam_Vinculin/catenin,prints_Alpha_catenin	ENSG00000066032		0.597	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4		0.00	27	0	G	NM_004389		80136780	+1			no_errors	ENST00000361291	ensembl	human	known	74_37	nonsense	6.90	27	2	SNP	1.000	T
CUX2	23316	genome.wustl.edu	37	12	111776207	111776207	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:111776207G>A	ENST00000261726.6	+	20	3468	c.3314G>A	c.(3313-3315)cGc>cAc	p.R1105H	RNA5SP373_ENST00000517271.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1105					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCTTTTGTCCGCATGCAGCTG	0.587																																																	0													53.0	61.0	58.0					12																	111776207		2011	4205	6216	SO:0001583	missense	0			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3314G>A	12.37:g.111776207G>A	ENSP00000261726:p.Arg1105His		A7E2Y4	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.R1105H	ENST00000261726.6	37	c.3314	CCDS41837.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.418749	0.96092	.	.	ENSG00000111249	ENST00000261726	T	0.70869	-0.52	5.32	5.32	0.75619	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.87641	0.6228	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90029	0.4133	10	0.87932	D	0	-19.9088	19.0362	0.92980	0.0:0.0:1.0:0.0	.	1105	O14529	CUX2_HUMAN	H	1105	ENSP00000261726:R1105H	ENSP00000261726:R1105H	R	+	2	0	CUX2	110260590	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	9.869000	0.99810	2.495000	0.84180	0.655000	0.94253	CGC	CUX2	-	pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT	ENSG00000111249		0.587	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	HGNC	protein_coding	OTTHUMT00000404765.1		0.00	39	0	G	NM_015267		111776207	+1			no_errors	ENST00000261726	ensembl	human	known	74_37	missense	11.90	37	5	SNP	1.000	A
DCAF12L2	340578	genome.wustl.edu	37	X	125299490	125299490	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:125299490C>T	ENST00000360028.2	-	1	444	c.418G>A	c.(418-420)Gag>Aag	p.E140K	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.E140K			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	140										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						AGCCCGGCCTCCTTGTCCCGC	0.647																																																	0													84.0	82.0	82.0					X																	125299490		2203	4300	6503	SO:0001583	missense	0			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.418G>A	X.37:g.125299490C>T	ENSP00000353128:p.Glu140Lys		B2RN42	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E140K	ENST00000360028.2	37	c.418	CCDS43991.1	X	.	.	.	.	.	.	.	.	.	.	c	0.895	-0.724121	0.03158	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.35236	1.32;1.32	3.89	1.15	0.20763	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.20941	0.0504	L	0.31926	0.97	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32719	-0.9896	9	0.08599	T	0.76	.	5.4665	0.16646	0.0:0.6189:0.0:0.3811	.	140	Q5VW00	DC122_HUMAN	K	140	ENSP00000441489:E140K;ENSP00000353128:E140K	ENSP00000353128:E140K	E	-	1	0	DCAF12L2	125127171	0.069000	0.21087	0.000000	0.03702	0.007000	0.05969	2.286000	0.43496	0.108000	0.17862	0.540000	0.68198	GAG	DCAF12L2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000198354		0.647	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L2	HGNC	protein_coding	OTTHUMT00000058181.1	-	0.00	61	0	C	NM_001013628		125299490	-1	tier1	-	no_errors	ENST00000360028	ensembl	human	known	74_37	missense	45.24	23	19	SNP	0.009	T
DDX55	57696	genome.wustl.edu	37	12	124104544	124104546	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:124104544_124104546delCTT	ENST00000238146.4	+	14	1710_1712	c.1660_1662delCTT	c.(1660-1662)cttdel	p.L555del	DDX55_ENST00000538744.1_In_Frame_Del_p.L524del|DDX55_ENST00000421670.3_In_Frame_Del_p.L162del	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	555	Lys-rich.					membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		CATGGAAGAACTTCTTAATGACA	0.35																																																	0																																										SO:0001651	inframe_deletion	0			AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1660_1662delCTT	12.37:g.124104547_124104549delCTT	ENSP00000238146:p.Leu555del		Q658L6|Q8IYH0|Q9HCH7	In_Frame_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L555in_frame_del	ENST00000238146.4	37	c.1660_1662	CCDS9251.1	12																																																																																			DDX55	-	NULL	ENSG00000111364		0.350	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX55	HGNC	protein_coding	OTTHUMT00000400616.2		0.00	35	0	CTT			124104546	+1	tier1		no_errors	ENST00000238146	ensembl	human	known	74_37	in_frame_del	18.60	35	8	DEL	1.000:1.000:0.978	-
DEPDC1	55635	genome.wustl.edu	37	1	68943645	68943645	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:68943645G>T	ENST00000456315.2	-	11	2237	c.2123C>A	c.(2122-2124)cCt>cAt	p.P708H	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Missense_Mutation_p.P424H	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	708					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TCCATCTCCAGGATTTTCAAT	0.358																																																	0													102.0	107.0	105.0					1																	68943645		2203	4298	6501	SO:0001583	missense	0			AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.2123C>A	1.37:g.68943645G>T	ENSP00000412292:p.Pro708His		A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	pfam_DEP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom	p.P708H	ENST00000456315.2	37	c.2123	CCDS44159.1	1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681914	0.29872	.	.	ENSG00000024526	ENST00000456315;ENST00000370966	D;D	0.92858	-3.12;-3.12	5.7	4.77	0.60923	.	.	.	.	.	T	0.78000	0.4215	L	0.34521	1.04	0.20563	N	0.99989	B;B	0.12630	0.006;0.003	B;B	0.18263	0.021;0.004	T	0.69499	-0.5129	9	0.42905	T	0.14	-0.5592	7.8184	0.29274	0.0754:0.0:0.6262:0.2984	.	708;424	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	H	708;424	ENSP00000412292:P708H;ENSP00000360005:P424H	ENSP00000360005:P424H	P	-	2	0	DEPDC1	68716233	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	2.852000	0.48310	1.349000	0.45751	0.650000	0.86243	CCT	DEPDC1	-	NULL	ENSG00000024526		0.358	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DEPDC1	HGNC	protein_coding	OTTHUMT00000025514.2		0.00	50	0	G	NM_017779		68943645	-1			no_errors	ENST00000456315	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.590	T
DGCR14	8220	genome.wustl.edu	37	22	19121854	19121854	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr22:19121854T>C	ENST00000252137.6	-	10	1329	c.1286A>G	c.(1285-1287)aAg>aGg	p.K429R		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	429					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GGCCGGGGTCTTGAGGTGGGT	0.682																																																	0													71.0	65.0	67.0					22																	19121854		2203	4300	6503	SO:0001583	missense	0			L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.1286A>G	22.37:g.19121854T>C	ENSP00000252137:p.Lys429Arg		Q49AH7|Q9BTZ4	Missense_Mutation	SNP	pfam_Nuclear_protein_DGCR14	p.K429R	ENST00000252137.6	37	c.1286	CCDS13756.1	22	.	.	.	.	.	.	.	.	.	.	T	15.74	2.921330	0.52653	.	.	ENSG00000100056	ENST00000252137	T	0.23950	1.88	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.20292	0.0488	L	0.43152	1.355	0.58432	D	0.99999	P	0.43094	0.799	B	0.39258	0.295	T	0.03483	-1.1032	10	0.10902	T	0.67	-35.5676	13.5076	0.61493	0.0:0.0:0.0:1.0	.	429	Q96DF8	DGC14_HUMAN	R	429	ENSP00000252137:K429R	ENSP00000252137:K429R	K	-	2	0	DGCR14	17501854	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.525000	0.81892	1.865000	0.54081	0.397000	0.26171	AAG	DGCR14	-	NULL	ENSG00000100056		0.682	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR14	HGNC	protein_coding	OTTHUMT00000316432.2	-	0.00	99	0	T			19121854	-1	tier1	-	no_errors	ENST00000252137	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	C
DIAPH2	1730	genome.wustl.edu	37	X	96354739	96354739	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:96354739C>T	ENST00000324765.8	+	20	2641	c.2294C>T	c.(2293-2295)gCa>gTa	p.A765V	DIAPH2_ENST00000355827.4_Missense_Mutation_p.A765V|DIAPH2_ENST00000373054.4_Missense_Mutation_p.A761V|DIAPH2_ENST00000373049.4_Missense_Mutation_p.A765V|DIAPH2_ENST00000373061.3_Missense_Mutation_p.A765V			O60879	DIAP2_HUMAN	diaphanous-related formin 2	765	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AACGAATTAGCAGAGCTTAAG	0.348																																																	0													115.0	94.0	101.0					X																	96354739		2203	4300	6503	SO:0001583	missense	0			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.2294C>T	X.37:g.96354739C>T	ENSP00000321348:p.Ala765Val		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.A765V	ENST00000324765.8	37	c.2294	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811160	0.50527	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	5.21	4.34	0.51931	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.244482	0.31347	N	0.007802	T	0.22399	0.0540	L	0.41236	1.265	0.46954	D	0.999261	B;B	0.31752	0.338;0.29	B;B	0.37015	0.239;0.154	T	0.02975	-1.1087	10	0.59425	D	0.04	.	13.7076	0.62648	0.0:0.8477:0.1523:0.0	.	765;765	O60879;O60879-2	DIAP2_HUMAN;.	V	765;761;765;765;765;772	ENSP00000362152:A765V;ENSP00000362145:A761V;ENSP00000348082:A765V;ENSP00000362140:A765V;ENSP00000321348:A765V	ENSP00000321348:A765V	A	+	2	0	DIAPH2	96241395	1.000000	0.71417	0.730000	0.30809	0.207000	0.24258	5.010000	0.64004	0.942000	0.37525	-0.229000	0.12294	GCA	DIAPH2	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000147202		0.348	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2	-	0.00	18	0	C	NM_006729, NM_007309		96354739	+1	tier1	-	no_errors	ENST00000324765	ensembl	human	known	74_37	missense	86.67	4	26	SNP	1.000	T
DLG2	1740	genome.wustl.edu	37	11	83641482	83641482	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:83641482T>C	ENST00000532653.1	-	10	1372	c.1070A>G	c.(1069-1071)aAg>aGg	p.K357R	DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000398309.2_Missense_Mutation_p.K357R|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000280241.8_Missense_Mutation_p.K396R|DLG2_ENST00000398301.2_Missense_Mutation_p.K396R|DLG2_ENST00000376104.2_Missense_Mutation_p.K462R|DLG2_ENST00000330014.6_Missense_Mutation_p.K296R|DLG2_ENST00000537455.1_Missense_Mutation_p.K111R|DLG2_ENST00000543673.1_Missense_Mutation_p.K462R|DLG2_ENST00000524982.1_Missense_Mutation_p.K357R|DLG2_ENST00000531015.1_Missense_Mutation_p.K324R			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.K357M(1)|p.K462M(1)|p.K396M(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGAAGCAGGCTTATCACATAG	0.488																																																	3	Substitution - Missense(3)	lung(3)											167.0	171.0	170.0					11																	83641482		2009	4193	6202	SO:0001583	missense	0			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1070A>G	11.37:g.83641482T>C	ENSP00000435849:p.Lys357Arg		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.K462R	ENST00000532653.1	37	c.1385		11	.	.	.	.	.	.	.	.	.	.	T	16.61	3.171392	0.57584	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301	T;T;T;T;T;T;T;T;T;T	0.19806	2.65;2.64;2.64;2.6;2.56;2.42;2.65;2.6;2.46;2.12	5.99	5.99	0.97316	.	0.182212	0.34268	N	0.004118	T	0.15262	0.0368	N	0.19112	0.55	0.80722	D	1	B;B;B;B;B;B;B	0.19817	0.005;0.003;0.003;0.005;0.039;0.008;0.003	B;B;B;B;B;B;B	0.13407	0.004;0.003;0.003;0.003;0.005;0.009;0.003	T	0.10405	-1.0631	9	.	.	.	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	324;357;357;296;396;462;357	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700	.;.;.;.;.;.;DLG2_HUMAN	R	357;462;462;396;296;111;357;357;462;324;396	ENSP00000381355:K357R;ENSP00000365272:K462R;ENSP00000441994:K462R;ENSP00000280241:K396R;ENSP00000381353:K296R;ENSP00000443248:K111R;ENSP00000432894:K357R;ENSP00000435849:K357R;ENSP00000433848:K324R;ENSP00000381346:K396R	.	K	-	2	0	DLG2	83319130	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.571000	0.67404	2.291000	0.77112	0.533000	0.62120	AAG	DLG2	-	pirsf_M-assoc_guanylate_kinase	ENSG00000150672		0.488	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259253.2	-	0.00	51	0	T	NM_001364		83641482	-1	tier1	-	no_errors	ENST00000376104	ensembl	human	known	74_37	missense	53.33	21	24	SNP	1.000	C
DIXDC1	85458	genome.wustl.edu	37	11	111851550	111851550	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:111851550G>A	ENST00000440460.2	+	6	1042	c.745G>A	c.(745-747)Gct>Act	p.A249T	DIXDC1_ENST00000315253.5_Missense_Mutation_p.A38T|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	249	Actin-binding.				camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		GATTATTCCCGCTGAAGGAAT	0.468																																																	0													103.0	97.0	99.0					11																	111851550		1910	4112	6022	SO:0001583	missense	0			AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.745G>A	11.37:g.111851550G>A	ENSP00000394352:p.Ala249Thr		A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Missense_Mutation	SNP	pfam_DIX,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_DIX,pfscan_CH-domain,pfscan_DIX	p.A249T	ENST00000440460.2	37	c.745		11	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543868	0.65198	.	.	ENSG00000150764	ENST00000440460;ENST00000315253	T;T	0.69561	-0.41;1.01	5.71	3.39	0.38822	.	0.514735	0.19974	N	0.101918	T	0.35393	0.0930	N	0.03608	-0.345	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.15723	-1.0427	10	0.23891	T	0.37	-12.1654	2.7443	0.05263	0.2606:0.0699:0.1226:0.5468	.	38;249	E7EQ17;Q155Q3	.;DIXC1_HUMAN	T	249;38	ENSP00000394352:A249T;ENSP00000314068:A38T	ENSP00000314068:A38T	A	+	1	0	DIXDC1	111356760	0.148000	0.22702	0.994000	0.49952	0.987000	0.75469	0.390000	0.20768	0.110000	0.17919	-0.256000	0.11100	GCT	DIXDC1	-	NULL	ENSG00000150764		0.468	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	DIXDC1	HGNC	protein_coding		-	0.00	42	0	G	NM_001037954		111851550	+1	tier1	-	no_errors	ENST00000440460	ensembl	human	known	74_37	missense	28.12	23	9	SNP	0.933	A
DMRT1	1761	genome.wustl.edu	37	9	847138	847138	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:847138C>T	ENST00000382276.3	+	2	682	c.533C>T	c.(532-534)gCt>gTt	p.A178V	DMRT1_ENST00000569227.1_Missense_Mutation_p.A20V	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	178					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		ACCACTGCAGCTTCAGGTAAT	0.597																																																	0													30.0	30.0	30.0					9																	847138		2203	4299	6502	SO:0001583	missense	0			AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"""DM domain expressed in testis 1"""	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.533C>T	9.37:g.847138C>T	ENSP00000371711:p.Ala178Val		B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.A178V	ENST00000382276.3	37	c.533	CCDS6442.1	9	.	.	.	.	.	.	.	.	.	.	C	7.168	0.587011	0.13749	.	.	ENSG00000137090	ENST00000382276	T	0.19394	2.15	4.12	2.23	0.28157	.	0.806015	0.11521	N	0.555707	T	0.10208	0.0250	N	0.13098	0.295	0.09310	N	1	B;B	0.12630	0.006;0.001	B;B	0.17098	0.017;0.01	T	0.41484	-0.9506	10	0.11182	T	0.66	.	5.5918	0.17305	0.0:0.6503:0.1624:0.1873	.	178;178	Q9Y5R6;Q6T1H9	DMRT1_HUMAN;.	V	178	ENSP00000371711:A178V	ENSP00000371711:A178V	A	+	2	0	DMRT1	837138	0.076000	0.21285	0.111000	0.21465	0.747000	0.42532	1.413000	0.34725	0.382000	0.24878	0.655000	0.94253	GCT	DMRT1	-	pfam_DMRT1-like	ENSG00000137090		0.597	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT1	HGNC	protein_coding	OTTHUMT00000051489.2	-	0.00	78	0	C	NM_021951		847138	+1	tier1	-	no_errors	ENST00000382276	ensembl	human	known	74_37	missense	30.00	49	21	SNP	0.037	T
DNAH11	8701	genome.wustl.edu	37	7	21583015	21583015	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:21583015G>A	ENST00000409508.3	+	1	183	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	DNAH11_ENST00000328843.6_Missense_Mutation_p.R51Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	51	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGAGAGCGCGGAGTTTCGCC	0.677									Kartagener syndrome																																								0													16.0	20.0	19.0					7																	21583015		1945	4015	5960	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.152G>A	7.37:g.21583015G>A	ENSP00000475939:p.Arg51Gln		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R51Q	ENST00000409508.3	37	c.152		7	.	.	.	.	.	.	.	.	.	.	G	9.140	1.013647	0.19277	.	.	ENSG00000105877	ENST00000328843	T	0.23348	1.91	3.99	-0.0544	0.13813	.	2.754390	0.01620	N	0.022944	T	0.11965	0.0291	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15292	-1.0442	10	0.15499	T	0.54	.	2.663	0.05032	0.3465:0.0:0.443:0.2104	.	51	Q96DT5	DYH11_HUMAN	Q	51	ENSP00000330671:R51Q	ENSP00000330671:R51Q	R	+	2	0	DNAH11	21549540	0.380000	0.25131	0.928000	0.36995	0.881000	0.50899	-0.057000	0.11768	0.182000	0.20032	-0.244000	0.11960	CGG	DNAH11	-	NULL	ENSG00000105877		0.677	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	-	0.00	34	0	G	NM_003777		21583015	+1	tier1	-	no_errors	ENST00000328843	ensembl	human	known	74_37	missense	10.98	73	9	SNP	0.119	A
DNAH11	8701	genome.wustl.edu	37	7	21598459	21598459	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:21598459T>C	ENST00000409508.3	+	3	566	c.535T>C	c.(535-537)Tcc>Ccc	p.S179P	DNAH11_ENST00000328843.6_Missense_Mutation_p.S179P	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	179	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAACCATAAGTCCTGGTCCTG	0.313									Kartagener syndrome																																								0													42.0	40.0	41.0					7																	21598459		1805	4073	5878	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.535T>C	7.37:g.21598459T>C	ENSP00000475939:p.Ser179Pro		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S179P	ENST00000409508.3	37	c.535		7	.	.	.	.	.	.	.	.	.	.	T	13.38	2.219299	0.39201	.	.	ENSG00000105877	ENST00000328843	T	0.24538	1.85	6.02	1.94	0.25998	.	0.564156	0.17937	N	0.156964	T	0.18341	0.0440	L	0.43152	1.355	0.09310	N	1	B	0.27068	0.167	B	0.28011	0.085	T	0.14008	-1.0488	10	0.41790	T	0.15	.	4.0476	0.09779	0.1491:0.0711:0.119:0.6608	.	179	Q96DT5	DYH11_HUMAN	P	179	ENSP00000330671:S179P	ENSP00000330671:S179P	S	+	1	0	DNAH11	21564984	0.006000	0.16342	0.997000	0.53966	0.906000	0.53458	0.757000	0.26433	0.967000	0.38186	0.528000	0.53228	TCC	DNAH11	-	NULL	ENSG00000105877		0.313	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	-	0.00	46	0	T	NM_003777		21598459	+1	tier1	-	no_errors	ENST00000328843	ensembl	human	known	74_37	missense	23.91	70	22	SNP	0.007	C
DNAH2	146754	genome.wustl.edu	37	17	7646597	7646597	+	Intron	DEL	T	T	-	rs564117935		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:7646597delT	ENST00000572933.1	+	12	3364				DNAH2_ENST00000082259.3_Frame_Shift_Del_p.F765fs|DNAH2_ENST00000570791.1_Frame_Shift_Del_p.F765fs|DNAH2_ENST00000389173.2_Intron			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTCATTTTACTTTTTTTTTTC	0.338																																																	0																																										SO:0001627	intron_variant	0			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1904+137T>-	17.37:g.7646597delT			A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Frame_Shift_Del	DEL	pfam_Dynein_heavy_dom-1	p.S766fs	ENST00000572933.1	37	c.2287	CCDS32551.1	17																																																																																			DNAH2	-	NULL	ENSG00000183914		0.338	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1		0.00	70	0	T	NM_020877		7646597	+1	tier1		no_errors	ENST00000082259	ensembl	human	known	74_37	frame_shift_del	62.86	13	22	DEL	0.000	-
DNHD1	144132	genome.wustl.edu	37	11	6578477	6578477	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:6578477C>T	ENST00000527990.2	+	23	7952	c.7952C>T	c.(7951-7953)gCa>gTa	p.A2651V	DNHD1_ENST00000254579.6_Missense_Mutation_p.A2651V			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2651					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TTGCATGAGGCACAGAGAACC	0.582																																																	0													84.0	79.0	81.0					11																	6578477		692	1591	2283	SO:0001583	missense	0			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.7952C>T	11.37:g.6578477C>T	ENSP00000436180:p.Ala2651Val		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE	p.A2651V	ENST00000527990.2	37	c.7952	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	C	15.00	2.701845	0.48307	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000534210	T;T	0.28895	1.59;1.59	5.28	5.28	0.74379	.	.	.	.	.	T	0.29684	0.0741	N	0.08118	0	0.32725	N	0.509746	D;D	0.89917	1.0;1.0	D;D	0.79784	0.984;0.993	T	0.02144	-1.1206	9	0.02654	T	1	.	14.1394	0.65311	0.0:0.8488:0.1512:0.0	.	2651;398	Q96M86;E9PHZ7	DNHD1_HUMAN;.	V	2651;2651;398	ENSP00000254579:A2651V;ENSP00000436180:A2651V	ENSP00000254579:A2651V	A	+	2	0	DNHD1	6535053	0.987000	0.35691	1.000000	0.80357	0.975000	0.68041	2.107000	0.41844	2.755000	0.94549	0.650000	0.86243	GCA	DNHD1	-	NULL	ENSG00000179532		0.582	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	-	0.00	39	0	C	NM_144666		6578477	+1	tier1	-	no_errors	ENST00000254579	ensembl	human	known	74_37	missense	43.59	22	17	SNP	1.000	T
DNM1P47	100216544	genome.wustl.edu	37	15	102304374	102304374	+	RNA	SNP	G	G	A	rs370265732		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:102304374G>A	ENST00000561463.1	+	0	12420									DNM1 pseudogene 47																		ACCTGCACTCGCGTGGGAACG	0.587																																																	0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304374G>A				RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			DNM1P47	-	-	ENSG00000259660		0.587	DNM1P47-001	KNOWN	basic	processed_transcript	DNM1P47	HGNC	pseudogene	OTTHUMT00000417589.1	-	0.00	43	0	G	NG_009149		102304374	+1	tier1	-	no_errors	ENST00000561463	ensembl	human	known	74_37	rna	13.33	39	6	SNP	0.992	A
DOCK3	1795	genome.wustl.edu	37	3	51395429	51395429	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:51395429A>C	ENST00000266037.9	+	46	4828	c.4805A>C	c.(4804-4806)aAg>aCg	p.K1602T		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1602	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTTCATGAGAAGTTTGTGCAC	0.493																																																	0													167.0	169.0	168.0					3																	51395429		2016	4166	6182	SO:0001583	missense	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4805A>C	3.37:g.51395429A>C	ENSP00000266037:p.Lys1602Thr		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.K1602T	ENST00000266037.9	37	c.4805	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	A	19.90	3.912750	0.72983	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.18960	2.18	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.33323	0.0859	L	0.45352	1.415	0.49213	D	0.999764	D	0.64830	0.994	D	0.66979	0.948	T	0.03374	-1.1043	10	0.30854	T	0.27	.	10.0285	0.42085	0.9249:0.0:0.0751:0.0	.	1602	Q8IZD9	DOCK3_HUMAN	T	1602;398	ENSP00000266037:K1602T	ENSP00000266037:K1602T	K	+	2	0	DOCK3	51370469	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.425000	0.73370	2.091000	0.63221	0.454000	0.30748	AAG	DOCK3	-	pfam_DOCK_C	ENSG00000088538		0.493	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	-	0.00	64	0	A	NM_004947		51395429	+1	tier1	-	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	12.68	62	9	SNP	1.000	C
DPEP3	64180	genome.wustl.edu	37	16	68014007	68014007	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:68014007G>A	ENST00000268793.4	-	1	725	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	93					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CCGTCCACGAGTGGGAAACTC	0.632																																																	0													46.0	44.0	45.0					16																	68014007		2198	4300	6498	SO:0001583	missense	0			AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.352C>T	16.37:g.68014007G>A	ENSP00000268793:p.Leu118Phe		B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	pfam_Peptidase_M19	p.L118F	ENST00000268793.4	37	c.352	CCDS10856.1	16	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113624	0.56398	.	.	ENSG00000141096	ENST00000268793	T	0.24350	1.86	3.96	3.01	0.34805	.	0.091048	0.42172	D	0.000744	T	0.43942	0.1270	M	0.85542	2.76	0.20196	N	0.999925	P	0.51057	0.941	P	0.55391	0.775	T	0.32402	-0.9908	10	0.72032	D	0.01	.	7.6635	0.28417	0.1169:0.0:0.8831:0.0	.	93	Q9H4B8	DPEP3_HUMAN	F	118	ENSP00000268793:L118F	ENSP00000268793:L118F	L	-	1	0	DPEP3	66571508	0.163000	0.22920	0.039000	0.18376	0.006000	0.05464	1.186000	0.32078	1.033000	0.39918	-0.258000	0.10820	CTC	DPEP3	-	pfam_Peptidase_M19	ENSG00000141096		0.632	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPEP3	HGNC	protein_coding	OTTHUMT00000268875.3	-	0.00	85	0	G	NM_022357		68014007	-1	tier1	-	no_errors	ENST00000268793	ensembl	human	known	74_37	missense	29.27	58	24	SNP	0.038	A
DSCAML1	57453	genome.wustl.edu	37	11	117651360	117651360	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:117651360G>A	ENST00000321322.6	-	2	393	c.392C>T	c.(391-393)cCg>cTg	p.P131L	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	71	Ig-like C2-type 2.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCGGATGTGCGGCACGTCGTA	0.662																																																	0													117.0	119.0	118.0					11																	117651360		2200	4296	6496	SO:0001583	missense	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.392C>T	11.37:g.117651360G>A	ENSP00000315465:p.Pro131Leu		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	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_dom	p.P131L	ENST00000321322.6	37	c.392	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176950	0.78564	.	.	ENSG00000177103	ENST00000321322	T	0.40476	1.03	5.1	5.1	0.69264	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60353	0.2262	L	0.52266	1.64	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57057	-0.7876	9	0.39692	T	0.17	.	18.9124	0.92491	0.0:0.0:1.0:0.0	.	71	Q8TD84	DSCL1_HUMAN	L	131	ENSP00000315465:P131L	ENSP00000315465:P131L	P	-	2	0	DSCAML1	117156570	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	8.009000	0.88606	2.536000	0.85505	0.563000	0.77884	CCG	DSCAML1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000177103		0.662	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	-	0.00	30	0	G	NM_020693		117651360	-1	tier1	-	no_errors	ENST00000321322	ensembl	human	known	74_37	missense	24.14	22	7	SNP	1.000	A
DYNC1H1	1778	genome.wustl.edu	37	14	102467317	102467317	+	Silent	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr14:102467317G>A	ENST00000360184.4	+	19	4265	c.4101G>A	c.(4099-4101)ctG>ctA	p.L1367L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1367	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATGCCCTCCTGAACCAGCTGA	0.418																																																	0													129.0	135.0	133.0					14																	102467317		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.4101G>A	14.37:g.102467317G>A			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.L1367	ENST00000360184.4	37	c.4101	CCDS9966.1	14																																																																																			DYNC1H1	-	pfam_Dynein_heavy_dom-2	ENSG00000197102		0.418	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	-	0.00	69	0	G	NM_001376		102467317	+1	tier1	-	no_errors	ENST00000360184	ensembl	human	known	74_37	silent	30.00	56	24	SNP	1.000	A
ECEL1	9427	genome.wustl.edu	37	2	233347591	233347591	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:233347591T>G	ENST00000304546.1	-	10	1865	c.1655A>C	c.(1654-1656)aAg>aCg	p.K552T	ECEL1_ENST00000409941.1_Missense_Mutation_p.K552T	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	552					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCGAATCTTCTTAACTGAGAG	0.572																																																	0													163.0	163.0	163.0					2																	233347591		2203	4300	6503	SO:0001583	missense	0			Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1655A>C	2.37:g.233347591T>G	ENSP00000302051:p.Lys552Thr		Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.K552T	ENST00000304546.1	37	c.1655	CCDS2493.1	2	.	.	.	.	.	.	.	.	.	.	T	16.21	3.058870	0.55325	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	D;D	0.82619	-1.63;-1.63	5.25	5.25	0.73442	.	0.053197	0.64402	D	0.000001	D	0.82949	0.5148	L	0.57536	1.79	0.58432	D	0.999997	P;D	0.57899	0.89;0.981	P;P	0.49637	0.466;0.617	D	0.83803	0.0237	10	0.54805	T	0.06	-0.149	9.6616	0.39958	0.0:0.078:0.0:0.922	.	552;552	O95672-2;O95672	.;ECEL1_HUMAN	T	552	ENSP00000302051:K552T;ENSP00000386333:K552T	ENSP00000302051:K552T	K	-	2	0	ECEL1	233055835	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.434000	0.52841	1.981000	0.57761	0.533000	0.62120	AAG	ECEL1	-	NULL	ENSG00000171551		0.572	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECEL1	HGNC	protein_coding	OTTHUMT00000257039.2	-	0.00	50	0	T	NM_004826		233347591	-1	tier1	-	no_errors	ENST00000304546	ensembl	human	known	74_37	missense	22.73	17	5	SNP	1.000	G
EDIL3	10085	genome.wustl.edu	37	5	83356228	83356228	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:83356228G>A	ENST00000296591.5	-	9	1446	c.1028C>T	c.(1027-1029)aCg>aTg	p.T343M	EDIL3_ENST00000380138.3_Missense_Mutation_p.T333M|EDIL3_ENST00000510271.1_5'UTR	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	343	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.T343M(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CATGTTGAGCGTTCTGAAGAT	0.483																																																	1	Substitution - Missense(1)	kidney(1)											146.0	131.0	136.0					5																	83356228		2203	4300	6503	SO:0001583	missense	0			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.1028C>T	5.37:g.83356228G>A	ENSP00000296591:p.Thr343Met		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.T343M	ENST00000296591.5	37	c.1028	CCDS4062.1	5	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216198	0.79352	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98264	-4.83;-4.83	5.96	5.96	0.96718	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98966	0.9648	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.998	P;D;D	0.87578	0.715;0.998;0.962	D	0.99814	1.1043	10	0.87932	D	0	-23.5323	20.422	0.99049	0.0:0.0:1.0:0.0	.	120;333;343	B7Z865;O43854-2;O43854	.;.;EDIL3_HUMAN	M	343;333	ENSP00000296591:T343M;ENSP00000369483:T333M	ENSP00000296591:T343M	T	-	2	0	EDIL3	83391984	1.000000	0.71417	0.961000	0.40146	0.547000	0.35210	9.476000	0.97823	2.832000	0.97577	0.655000	0.94253	ACG	EDIL3	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000164176		0.483	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EDIL3	HGNC	protein_coding	OTTHUMT00000239258.1	-	0.00	69	0	G	NM_005711		83356228	-1	tier1	-	no_errors	ENST00000296591	ensembl	human	known	74_37	missense	25.45	41	14	SNP	1.000	A
EHMT1	79813	genome.wustl.edu	37	9	140728899	140728899	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:140728899C>T	ENST00000460843.1	+	26	3666	c.3639C>T	c.(3637-3639)ttC>ttT	p.F1213F		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1213	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TGCGCGTGTTCATGGCCCACC	0.682																																																	0													70.0	64.0	66.0					9																	140728899		2202	4300	6502	SO:0001819	synonymous_variant	0			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3639C>T	9.37:g.140728899C>T			B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.F1213	ENST00000460843.1	37	c.3639	CCDS7050.2	9																																																																																			EHMT1	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	ENSG00000181090		0.682	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	-	0.00	89	0	C	NM_024757		140728899	+1	tier1	-	no_errors	ENST00000460843	ensembl	human	known	74_37	silent	28.99	48	20	SNP	1.000	T
EIF3J	8669	genome.wustl.edu	37	15	44828926	44828926	+	5'Flank	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:44828926G>T	ENST00000535391.1	+	0	0				EIF3J_ENST00000424492.3_5'Flank|EIF3J-AS1_ENST00000313807.4_lincRNA|EIF3J_ENST00000261868.5_5'Flank					eukaryotic translation initiation factor 3, subunit J											endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		GCGTTGGCAGGGGAGGGGCGA	0.652																																																	0																																										SO:0001631	upstream_gene_variant	0			U97670	CCDS10111.1, CCDS61612.1, CCDS61613.1	15q21.1	2014-05-13	2007-07-27	2007-07-27	ENSG00000104131	ENSG00000104131			3270	protein-coding gene	gene with protein product		603910	"""eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa"""	EIF3S1		9822659	Standard	NM_001284335		Approved	eIF3-p35, eIF3-alpha, eIF3j	uc001ztv.3	O75822	OTTHUMG00000131158		15.37:g.44828926G>T	Exception_encountered			RNA	SNP	-	NULL	ENST00000535391.1	37	NULL		15	.	.	.	.	.	.	.	.	.	.	G	10.10	1.257660	0.22965	.	.	ENSG00000179523	ENST00000313807	.	.	.	3.42	0.328	0.15918	.	.	.	.	.	T	0.37461	0.1004	.	.	.	.	.	.	.	.	.	.	.	.	T	0.47182	-0.9137	4	0.87932	D	0	.	3.4831	0.07610	0.2484:0.2153:0.5363:0.0	.	.	.	.	T	62	.	ENSP00000319558:P62T	P	-	1	0	AC009996.1	42616218	0.000000	0.05858	0.000000	0.03702	0.182000	0.23217	-0.128000	0.10531	0.087000	0.17167	0.561000	0.74099	CCT	EIF3J-AS1	-	-	ENSG00000179523		0.652	EIF3J-002	NOVEL	basic|exp_conf	protein_coding	EIF3J-AS1	HGNC	protein_coding	OTTHUMT00000396804.1	-	0.00	102	0	G	NM_003758		44828926	-1	tier1	-	no_errors	ENST00000313807	ensembl	human	known	74_37	rna	71.23	21	52	SNP	0.000	T
ELF5	2001	genome.wustl.edu	37	11	34502402	34502402	+	Silent	SNP	A	A	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:34502402A>G	ENST00000312319.2	-	6	847	c.618T>C	c.(616-618)gtT>gtC	p.V206V	ELF5_ENST00000528709.1_5'Flank|ELF5_ENST00000257832.2_Silent_p.V196V|ELF5_ENST00000429939.2_Silent_p.V101V	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	206					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|ectoderm development (GO:0007398)|mammary gland epithelial cell differentiation (GO:0060644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				CTTCCGATTTAACCACCCGAA	0.423																																					Melanoma(61;202 1660 4348 21594)												0													147.0	144.0	145.0					11																	34502402		2202	4298	6500	SO:0001819	synonymous_variant	0			AF049703	CCDS7892.1, CCDS7893.1, CCDS58129.1, CCDS73273.1	11p13-p12	2008-05-14			ENSG00000135374	ENSG00000135374			3320	protein-coding gene	gene with protein product		605169				9840936	Standard	NM_001422		Approved		uc001mvp.2	Q9UKW6	OTTHUMG00000166451	ENST00000312319.2:c.618T>C	11.37:g.34502402A>G			A6XAE6|A8K452|O95175|Q8N2K9|Q96QY3|Q9UKW5	Silent	SNP	pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.V206	ENST00000312319.2	37	c.618	CCDS7892.1	11																																																																																			ELF5	-	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	ENSG00000135374		0.423	ELF5-002	KNOWN	basic|CCDS	protein_coding	ELF5	HGNC	protein_coding	OTTHUMT00000389845.1	-	0.00	62	0	A	NM_198381		34502402	-1	tier1	-	no_errors	ENST00000312319	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.536	G
EML4	27436	genome.wustl.edu	37	2	42508091	42508091	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:42508091G>C	ENST00000318522.5	+	7	1031	c.769G>C	c.(769-771)Gag>Cag	p.E257Q	EML4_ENST00000402711.2_Missense_Mutation_p.E199Q|EML4_ENST00000401738.3_Missense_Mutation_p.E268Q	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	257					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ACTGCCTCCTGAGAAGCTCAA	0.408			T	ALK	NSCLC																																			Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0													96.0	84.0	88.0					2																	42508091		2203	4300	6503	SO:0001583	missense	0			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.769G>C	2.37:g.42508091G>C	ENSP00000320663:p.Glu257Gln		A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E257Q	ENST00000318522.5	37	c.769	CCDS1807.1	2	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644544	0.87859	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.31247	1.5;1.5;1.5	5.24	5.24	0.73138	HELP (1);Quinonprotein alcohol dehydrogenase-like (1);	0.151725	0.64402	D	0.000018	T	0.47985	0.1475	L	0.40543	1.245	0.80722	D	1	P;D	0.89917	0.594;1.0	B;D	0.91635	0.261;0.999	T	0.21314	-1.0249	10	0.28530	T	0.3	-6.9654	19.1885	0.93654	0.0:0.0:1.0:0.0	.	199;257	B5MCW9;Q9HC35	.;EMAL4_HUMAN	Q	257;199;268	ENSP00000320663:E257Q;ENSP00000385059:E199Q;ENSP00000384939:E268Q	ENSP00000320663:E257Q	E	+	1	0	EML4	42361595	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.775000	0.98995	2.580000	0.87095	0.650000	0.86243	GAG	EML4	-	pfam_HELP,superfamily_Quinonprotein_ADH-like_supfam	ENSG00000143924		0.408	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	HGNC	protein_coding	OTTHUMT00000250463.3	-	0.00	41	0	G	NM_019063		42508091	+1	tier1	-	no_errors	ENST00000318522	ensembl	human	known	74_37	missense	18.18	36	8	SNP	1.000	C
LOC105377213	105377213	genome.wustl.edu	37	X	150684497	150684497	+	lincRNA	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:150684497C>T	ENST00000454307.1	+	0	262																											CCACTCTGACCAGCTGAACGA	0.537																																																	0																																												0																															X.37:g.150684497C>T				RNA	SNP	-	NULL	ENST00000454307.1	37	NULL		X																																																																																			XX-FW80269A6.1	-	-	ENSG00000214915		0.537	XX-FW80269A6.1-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000214915	Clone_based_vega_gene	lincRNA	OTTHUMT00000078422.1	-	0.00	96	0	C			150684497	+1	tier1	-	no_errors	ENST00000454307	ensembl	human	known	74_37	rna	78.85	22	82	SNP	0.000	T
CPA6	57094	genome.wustl.edu	37	8	68623922	68623925	+	Intron	DEL	ACAC	ACAC	-	rs35928777		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	ACAC	ACAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:68623922_68623925delACAC	ENST00000297770.4	-	1	332				AC022861.1_ENST00000408733.1_RNA|CPA6_ENST00000518549.1_Intron|CPA6_ENST00000297769.4_Intron	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6							proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			atgcctgtgtacacacacacacac	0.471																																																	0																																										SO:0001627	intron_variant	0			AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.116+34323GTGT>-	8.37:g.68623930_68623933delACAC			Q8NEX8|Q8TDE8|Q9NRI9	RNA	DEL	-	NULL	ENST00000297770.4	37	NULL	CCDS6200.1	8																																																																																			AC022861.1	-	-	ENSG00000221660		0.471	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221660	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000379296.2		0.00	38	0	ACAC	NM_020361		68623925	+1	tier1		no_errors	ENST00000408733	ensembl	human	novel	74_37	rna	9.68	28	3	DEL	0.004:0.006:0.011:0.014	-
LINC01597	400841	genome.wustl.edu	37	20	29521777	29521777	+	lincRNA	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:29521777G>A	ENST00000380888.3	-	0	0				RP4-610C12.3_ENST00000454331.1_lincRNA																							GGTACGGTTAGACATAGAGCA	0.353																																																	0																																												0																															20.37:g.29521777G>A				RNA	SNP	-	NULL	ENST00000380888.3	37	NULL		20																																																																																			RP4-610C12.3	-	-	ENSG00000225490		0.353	RP4-610C12.4-001	KNOWN	basic	lincRNA	ENSG00000225490	Clone_based_vega_gene	lincRNA	OTTHUMT00000256907.1	-	0.00	74	0	G			29521777	-1	tier1	-	no_errors	ENST00000454331	ensembl	human	known	74_37	rna	19.05	68	16	SNP	0.986	A
LOC101928327	101928327	genome.wustl.edu	37	2	217735202	217735202	+	5'Flank	DEL	A	A	-	rs574922656|rs12995765|rs200965461|rs59237513	byFrequency	TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:217735202delA	ENST00000456163.1	+	0	0				AC007557.2_ENST00000421907.1_RNA|AC007563.5_ENST00000447289.1_RNA|AC007563.5_ENST00000607591.1_RNA|AC007563.1_ENST00000418591.1_RNA|AC007557.3_ENST00000451711.1_lincRNA																							GTTATTCTTTAAAAAAAAAAA	0.333																																																	0																																										SO:0001631	upstream_gene_variant	0																															2.37:g.217735202delA	Exception_encountered			RNA	DEL	-	NULL	ENST00000456163.1	37	NULL		2																																																																																			AC007563.1	-	-	ENSG00000236295		0.333	AC007557.1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	ENSG00000236295	Clone_based_vega_gene	protein_coding	OTTHUMT00000339424.1		0.00	14	0	A			217735202	-1	tier1		no_errors	ENST00000418591	ensembl	human	known	74_37	rna	25.00	12	4	DEL	0.002	-
RPL37P6	346950	genome.wustl.edu	37	8	57501242	57501242	+	RNA	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:57501242G>A	ENST00000464216.1	+	0	299																											AGCTGTTGCAGCATCCAGTTC	0.323																																																	0																																												0																															8.37:g.57501242G>A				RNA	SNP	-	NULL	ENST00000464216.1	37	NULL		8																																																																																			RP11-17A4.1	-	-	ENSG00000241431		0.323	RP11-17A4.1-002	KNOWN	basic	processed_transcript	ENSG00000241431	Clone_based_vega_gene	pseudogene	OTTHUMT00000351465.1	-	0.00	24	0	G			57501242	+1	tier1	-	no_errors	ENST00000464216	ensembl	human	known	74_37	rna	76.92	3	10	SNP	1.000	A
LDB2	9079	genome.wustl.edu	37	4	16513575	16513576	+	Intron	INS	-	-	A	rs201100460	byFrequency	TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:16513575_16513576insA	ENST00000304523.5	-	6	1063				LDB2_ENST00000515064.1_Intron|LDB2_ENST00000503178.2_Intron|LDB2_ENST00000441778.2_Intron|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000502640.1_Intron	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2						epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						AAAACGTGTTTAGAGAGAGAGT	0.45																																																	0																																										SO:0001627	intron_variant	0			AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.739+27->T	4.37:g.16513576_16513576dupA			O60619|O75480	RNA	INS	-	NULL	ENST00000304523.5	37	NULL	CCDS3420.1	4																																																																																			RP11-446J8.1	-	-	ENSG00000248138		0.450	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000248138	Clone_based_vega_gene	protein_coding	OTTHUMT00000250321.2		0.00	46	0	-			16513576	+1	tier1		no_errors	ENST00000512370	ensembl	human	known	74_37	rna	11.76	15	2	INS	0.000:0.000	A
RP11-23E10.4	0	genome.wustl.edu	37	16	33365420	33365420	+	RNA	DEL	A	A	-			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:33365420delA	ENST00000568520.1	-	0	249																											TACAAACTATAAAAAAACAGA	0.358																																																	0																																												0																															16.37:g.33365420delA				RNA	DEL	-	NULL	ENST00000568520.1	37	NULL		16																																																																																			RP11-23E10.4	-	-	ENSG00000261405		0.358	RP11-23E10.4-002	KNOWN	basic	processed_transcript	ENSG00000261405	Clone_based_vega_gene	pseudogene	OTTHUMT00000432134.1		0.00	63	0	A			33365420	-1			no_errors	ENST00000568520	ensembl	human	known	74_37	rna	13.46	45	7	DEL	0.001	0
AC006116.24	0	genome.wustl.edu	37	19	56888217	56888218	+	RNA	INS	-	-	T	rs199975898|rs374673565	byFrequency	TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:56888217_56888218insT	ENST00000591836.1	-	0	435_436				ZNF542_ENST00000490123.1_RNA																							CTGTTCATTGATTTTTTTTCCC	0.337													TTTTTTTT|TTTTTTTT|TTTTTTTTT|insertion	21	0.00419329	0.0144	0.0029	5008	,	,		20489	0.0		0.0	False		,,,				2504	0.0																0																																												0																															19.37:g.56888225_56888225dupT				RNA	INS	-	NULL	ENST00000591836.1	37	NULL		19																																																																																			AC006116.24	-	-	ENSG00000267776		0.337	AC006116.24-001	KNOWN	basic	sense_intronic	ENSG00000267776	Clone_based_vega_gene	sense_intronic	OTTHUMT00000459747.1		0.00	12	0	-			56888218	-1	tier1		no_errors	ENST00000591836	ensembl	human	known	74_37	rna	46.67	8	7	INS	0.016:0.075	T
ENTHD2	146705	genome.wustl.edu	37	17	79207238	79207238	+	Missense_Mutation	SNP	G	G	A	rs566719497		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:79207238G>A	ENST00000300714.3	-	7	577	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C	ENTHD2_ENST00000374769.2_Missense_Mutation_p.R22C|AC027601.1_ENST00000569559.1_RNA|AC027601.1_ENST00000575922.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	174						cytoplasmic vesicle (GO:0031410)											TCACCCGTGCGGCCGTGTTCC	0.682													A|||	1	0.000199681	0.0	0.0	5008	,	,		16197	0.0		0.001	False		,,,				2504	0.0																0													45.0	42.0	43.0					17																	79207238		2203	4300	6503	SO:0001583	missense	0			AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 56"""	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.520C>T	17.37:g.79207238G>A	ENSP00000300714:p.Arg174Cys		Q6ZQU0|Q6ZSQ9	Missense_Mutation	SNP	pfam_Epsin_dom_N,superfamily_ENTH_VHS	p.R174C	ENST00000300714.3	37	c.520	CCDS11779.1	17	.	.	.	.	.	.	.	.	.	.	A	13.90	2.375918	0.42105	.	.	ENSG00000167302	ENST00000300714;ENST00000374769	T	0.25579	1.79	4.88	0.301	0.15781	.	1.014140	0.07874	N	0.968342	T	0.20455	0.0492	N	0.22421	0.69	0.09310	N	1	B;D	0.67145	0.025;0.996	B;P	0.50708	0.003;0.648	T	0.12785	-1.0534	10	0.52906	T	0.07	-1.7669	1.5835	0.02639	0.201:0.1158:0.473:0.2102	.	174;22	Q96N21;Q96N21-2	CQ056_HUMAN;.	C	174;22	ENSP00000300714:R174C	ENSP00000300714:R174C	R	-	1	0	C17orf56	76821833	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.453000	0.21811	0.144000	0.18951	-2.806000	0.00112	CGC	ENTHD2	-	NULL	ENSG00000167302		0.682	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD2	HGNC	protein_coding	OTTHUMT00000439315.1	-	0.00	101	0	G	NM_144679		79207238	-1	tier1	-	no_errors	ENST00000300714	ensembl	human	known	74_37	missense	28.85	74	30	SNP	0.000	A
ENTPD2	954	genome.wustl.edu	37	9	139943641	139943641	+	Intron	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:139943641G>A	ENST00000355097.2	-	8	1197				NPDC1_ENST00000371601.4_5'Flank|ENTPD2_ENST00000460614.1_5'UTR|ENTPD2_ENST00000312665.5_Intron	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2						G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGGGCCGTGCGAGGCCAGAGA	0.731																																																	0																																										SO:0001627	intron_variant	0			U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"""CD39-like-1"", ""ecto-ATPase"""	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.1150-114C>T	9.37:g.139943641G>A			O15464|Q5SPY6|Q5SPY7	RNA	SNP	-	NULL	ENST00000355097.2	37	NULL	CCDS7026.1	9																																																																																			ENTPD2	-	-	ENSG00000054179		0.731	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD2	HGNC	protein_coding	OTTHUMT00000055169.1	-	0.00	11	0	G	NM_203468		139943641	-1	tier1	-	no_errors	ENST00000460614	ensembl	human	known	74_37	rna	35.71	9	5	SNP	0.000	A
EP300	2033	genome.wustl.edu	37	22	41547895	41547895	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr22:41547895G>A	ENST00000263253.7	+	15	4095	c.2876G>A	c.(2875-2877)aGc>aAc	p.S959N		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	959					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						TCTACTAGTAGCACAGAAGTG	0.483			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0													115.0	115.0	115.0					22																	41547895		2203	4300	6503	SO:0001583	missense	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.2876G>A	22.37:g.41547895G>A	ENSP00000263253:p.Ser959Asn		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.S959N	ENST00000263253.7	37	c.2876	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352872	0.82132	.	.	ENSG00000100393	ENST00000263253	D	0.84589	-1.87	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000019	D	0.86326	0.5906	M	0.69823	2.125	0.41268	D	0.986822	P	0.47762	0.9	B	0.42214	0.38	D	0.88177	0.2868	10	0.59425	D	0.04	-11.2353	19.4296	0.94759	0.0:0.0:1.0:0.0	.	959	Q09472	EP300_HUMAN	N	959	ENSP00000263253:S959N	ENSP00000263253:S959N	S	+	2	0	EP300	39877841	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.132000	0.77251	2.587000	0.87381	0.557000	0.71058	AGC	EP300	-	NULL	ENSG00000100393		0.483	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	-	0.00	41	0	G	NM_001429		41547895	+1	tier1	-	no_errors	ENST00000263253	ensembl	human	known	74_37	missense	28.26	33	13	SNP	1.000	A
EPB41	2035	genome.wustl.edu	37	1	29446256	29446256	+	3'UTR	SNP	C	C	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:29446256C>A	ENST00000343067.4	+	0	5654				EPB41_ENST00000373798.1_3'UTR|EPB41_ENST00000398863.2_3'UTR|TMEM200B_ENST00000521452.1_3'UTR|EPB41_ENST00000356093.2_3'UTR|TMEM200B_ENST00000420504.2_3'UTR|EPB41_ENST00000460378.1_3'UTR	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1						actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		CCCAGGATCTCAGCCCCAGGC	0.443																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.*2932C>A	1.37:g.29446256C>A			B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	RNA	SNP	-	NULL	ENST00000343067.4	37	NULL	CCDS53288.1	1																																																																																			EPB41	-	-	ENSG00000159023		0.443	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41	HGNC	protein_coding	OTTHUMT00000010312.1	-	0.00	44	0	C	NM_203342		29446256	+1	tier1	-	no_errors	ENST00000460378	ensembl	human	known	74_37	rna	6.56	57	4	SNP	0.004	A
EPB41L3	23136	genome.wustl.edu	37	18	5445237	5445237	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr18:5445237A>G	ENST00000341928.2	-	4	728	c.388T>C	c.(388-390)Tcc>Ccc	p.S130P	EPB41L3_ENST00000400111.3_Missense_Mutation_p.S130P|EPB41L3_ENST00000342933.3_Missense_Mutation_p.S130P|EPB41L3_ENST00000540638.2_Missense_Mutation_p.S130P|EPB41L3_ENST00000544123.1_Missense_Mutation_p.S130P|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	130	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGTCCTCTGGAGCGTTTCTAC	0.378																																																	0													120.0	99.0	106.0					18																	5445237		2203	4300	6503	SO:0001583	missense	0			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.388T>C	18.37:g.5445237A>G	ENSP00000343158:p.Ser130Pro		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.S130P	ENST00000341928.2	37	c.388	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	A	20.5	3.994957	0.74703	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111;ENST00000542652	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.82	4.63	0.57726	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.178676	0.49916	D	0.000124	D	0.87869	0.6286	M	0.83603	2.65	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.986;0.994;0.992;0.999	D;P;P;P;D	0.83275	0.996;0.84;0.874;0.8;0.984	D	0.88530	0.3102	10	0.72032	D	0.01	.	12.082	0.53675	0.8558:0.1442:0.0:0.0	.	130;130;21;130;130	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	P	130;21;130;21;130;130;211	ENSP00000343158:S130P;ENSP00000441174:S130P;ENSP00000341138:S130P;ENSP00000382981:S130P	ENSP00000343158:S130P	S	-	1	0	EPB41L3	5435237	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.824000	0.48088	0.995000	0.38917	0.383000	0.25322	TCC	EPB41L3	-	pirsf_Band_41_protein,pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like	ENSG00000082397		0.378	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	-	0.00	51	0	A	NM_012307		5445237	-1	tier1	-	no_errors	ENST00000341928	ensembl	human	known	74_37	missense	24.32	28	9	SNP	1.000	G
EPHB1	2047	genome.wustl.edu	37	3	134825426	134825426	+	Silent	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:134825426T>C	ENST00000398015.3	+	4	1312	c.942T>C	c.(940-942)ccT>ccC	p.P314P	EPHB1_ENST00000493838.1_5'UTR|EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	314	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ACTTTGACCCTCCAGAAGTGG	0.587																																																	0													50.0	51.0	51.0					3																	134825426		1935	4145	6080	SO:0001819	synonymous_variant	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.942T>C	3.37:g.134825426T>C			A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.P314	ENST00000398015.3	37	c.942	CCDS46921.1	3																																																																																			EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt_N_dom	ENSG00000154928		0.587	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	-	0.00	49	0	T	NM_004441		134825426	+1	tier1	-	no_errors	ENST00000398015	ensembl	human	known	74_37	silent	28.57	35	14	SNP	0.006	C
EPHB1	2047	genome.wustl.edu	37	3	134851749	134851749	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:134851749C>T	ENST00000398015.3	+	5	1525	c.1155C>T	c.(1153-1155)ggC>ggT	p.G385G	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	385	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGCAGCTGGGCCTGACGGAGT	0.597																																																	0													42.0	48.0	46.0					3																	134851749		2198	4295	6493	SO:0001819	synonymous_variant	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1155C>T	3.37:g.134851749C>T			A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.G385	ENST00000398015.3	37	c.1155	CCDS46921.1	3																																																																																			EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000154928		0.597	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	-	0.00	29	0	C	NM_004441		134851749	+1	tier1	-	no_errors	ENST00000398015	ensembl	human	known	74_37	silent	56.67	13	17	SNP	0.997	T
ERP27	121506	genome.wustl.edu	37	12	15067707	15067707	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:15067707G>A	ENST00000266397.2	-	7	1357	c.784C>T	c.(784-786)Cgt>Tgt	p.R262C	ERP27_ENST00000544881.1_5'Flank|ERP27_ENST00000540097.1_Missense_Mutation_p.R161C	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	262						endoplasmic reticulum (GO:0005783)		p.R262C(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						TCTGATTCACGATTTTCTTTC	0.348																																																	1	Substitution - Missense(1)	skin(1)											159.0	138.0	145.0					12																	15067707		2203	4300	6503	SO:0001583	missense	0			AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"""Protein disulfide isomerases"""	26495	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 8"""	610642	"""chromosome 12 open reading frame 46"", ""endoplasmic reticulum protein 27 kDa"""	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.784C>T	12.37:g.15067707G>A	ENSP00000266397:p.Arg262Cys			Missense_Mutation	SNP	superfamily_Thioredoxin-like_fold	p.R262C	ENST00000266397.2	37	c.784	CCDS8670.1	12	.	.	.	.	.	.	.	.	.	.	G	5.098	0.203794	0.09704	.	.	ENSG00000139055	ENST00000266397;ENST00000540097	T;T	0.46063	1.87;0.88	4.54	1.28	0.21552	Thioredoxin-like fold (1);	1.387170	0.04034	N	0.302047	T	0.26991	0.0661	N	0.14661	0.345	0.31138	N	0.707009	B	0.33904	0.431	B	0.29942	0.109	T	0.31833	-0.9929	10	0.62326	D	0.03	-1.7958	6.8799	0.24166	0.0:0.1617:0.4087:0.4296	.	262	Q96DN0	ERP27_HUMAN	C	262;161	ENSP00000266397:R262C;ENSP00000440573:R161C	ENSP00000266397:R262C	R	-	1	0	ERP27	14958974	0.017000	0.18338	0.157000	0.22605	0.122000	0.20287	0.514000	0.22786	0.246000	0.21394	0.655000	0.94253	CGT	ERP27	-	superfamily_Thioredoxin-like_fold	ENSG00000139055		0.348	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERP27	HGNC	protein_coding	OTTHUMT00000400868.1	-	0.00	37	0	G	NM_152321		15067707	-1	tier1	-	no_errors	ENST00000266397	ensembl	human	known	74_37	missense	50.00	14	14	SNP	0.178	A
ESPNP	284729	genome.wustl.edu	37	1	17026516	17026516	+	RNA	SNP	C	C	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:17026516C>G	ENST00000492551.1	-	0	1170					NR_026567.1				espin pseudogene																		AGGAGCTCGGCTGCGGGAAGA	0.716																																																	0																																												0			AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17026516C>G				Splice_Site	SNP	-	NULL	ENST00000492551.1	37	c.NULL		1																																																																																			ESPNP	-	-	ENSG00000268869		0.716	ESPNP-002	KNOWN	basic	processed_transcript	ESPNP	HGNC	pseudogene	OTTHUMT00000326311.1		0.00	14	0	C			17026516	-1			no_errors	ENST00000492551	ensembl	human	known	74_37	splice_site	21.05	15	4	SNP	1.000	G
ETAA1	54465	genome.wustl.edu	37	2	67632365	67632365	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:67632365C>T	ENST00000272342.5	+	5	2681	c.2551C>T	c.(2551-2553)Cag>Tag	p.Q851*	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	851						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						CAAAATTACACAGGGTGTGGA	0.333																																																	0													38.0	39.0	39.0					2																	67632365		2199	4292	6491	SO:0001587	stop_gained	0			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.2551C>T	2.37:g.67632365C>T	ENSP00000272342:p.Gln851*		Q05BT7|Q53SC4	Nonsense_Mutation	SNP	NULL	p.Q851*	ENST00000272342.5	37	c.2551	CCDS1882.1	2	.	.	.	.	.	.	.	.	.	.	C	38	6.727106	0.97792	.	.	ENSG00000143971	ENST00000272342	.	.	.	5.37	3.52	0.40303	.	0.284166	0.30329	N	0.009869	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-1.0764	15.3737	0.74587	0.0:0.7373:0.2627:0.0	.	.	.	.	X	851	.	ENSP00000272342:Q851X	Q	+	1	0	ETAA1	67485869	0.044000	0.20184	0.026000	0.17262	0.810000	0.45777	1.394000	0.34509	0.691000	0.31592	0.655000	0.94253	CAG	ETAA1	-	NULL	ENSG00000143971		0.333	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETAA1	HGNC	protein_coding	OTTHUMT00000251735.1	-	0.00	47	0	C	NM_019002		67632365	+1	tier1	-	no_errors	ENST00000272342	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	0.144	T
ETNPPL	64850	genome.wustl.edu	37	4	109674133	109674133	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:109674133C>G	ENST00000296486.3	-	6	690	c.536G>C	c.(535-537)aGa>aCa	p.R179T	ETNPPL_ENST00000510706.1_Missense_Mutation_p.R139T|ETNPPL_ENST00000411864.2_Missense_Mutation_p.R173T|ETNPPL_ENST00000512646.1_Missense_Mutation_p.R121T	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	179						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										ATGGTCTTCTCTATATTTTCC	0.368																																																	0													151.0	141.0	144.0					4																	109674133		2203	4300	6503	SO:0001583	missense	0			AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.536G>C	4.37:g.109674133C>G	ENSP00000296486:p.Arg179Thr		B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase	p.R179T	ENST00000296486.3	37	c.536	CCDS3682.1	4	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847966	0.91277	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.46	5.46	0.80206	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	L	0.43923	1.385	0.80722	D	1	B;B;P	0.50443	0.443;0.389;0.935	B;B;P	0.53760	0.3;0.274;0.734	T	0.38200	-0.9672	9	.	.	.	-32.733	19.3072	0.94167	0.0:1.0:0.0:0.0	.	121;173;179	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	T	179;173;121;139	ENSP00000296486:R179T;ENSP00000392269:R173T;ENSP00000427065:R121T;ENSP00000423240:R139T	.	R	-	2	0	AGXT2L1	109893582	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	6.082000	0.71318	2.555000	0.86185	0.655000	0.94253	AGA	ETNPPL	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase	ENSG00000164089		0.368	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ETNPPL	HGNC	protein_coding	OTTHUMT00000363508.1	-	0.00	53	0	C	NM_031279		109674133	-1	tier1	-	no_errors	ENST00000296486	ensembl	human	known	74_37	missense	36.11	23	13	SNP	1.000	G
EXTL3	2137	genome.wustl.edu	37	8	28574637	28574637	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:28574637G>A	ENST00000220562.4	+	3	1963	c.1061G>A	c.(1060-1062)aGg>aAg	p.R354K	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	354					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GAGTCTCTGAGGTCTAGCCTT	0.577																																																	0													70.0	63.0	65.0					8																	28574637		2203	4300	6503	SO:0001583	missense	0			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1061G>A	8.37:g.28574637G>A	ENSP00000220562:p.Arg354Lys		D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.R354K	ENST00000220562.4	37	c.1061	CCDS6070.1	8	.	.	.	.	.	.	.	.	.	.	G	4.452	0.083694	0.08533	.	.	ENSG00000012232	ENST00000220562	D	0.97303	-4.33	5.41	4.51	0.55191	.	0.045668	0.85682	D	0.000000	D	0.93916	0.8053	L	0.36672	1.1	0.33678	D	0.611705	B	0.02656	0.0	B	0.06405	0.002	D	0.92940	0.6371	9	.	.	.	-12.2243	15.4076	0.74890	0.0:0.0:0.86:0.14	.	354	O43909	EXTL3_HUMAN	K	354	ENSP00000220562:R354K	.	R	+	2	0	EXTL3	28630556	0.956000	0.32656	0.205000	0.23548	0.570000	0.35934	5.236000	0.65354	1.454000	0.47793	0.561000	0.74099	AGG	EXTL3	-	pfam_Exostosin	ENSG00000012232		0.577	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXTL3	HGNC	protein_coding	OTTHUMT00000219987.3	-	0.00	13	0	G	NM_001440		28574637	+1	tier1	-	no_errors	ENST00000220562	ensembl	human	known	74_37	missense	23.81	16	5	SNP	0.630	A
EYS	346007	genome.wustl.edu	37	6	65301179	65301179	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:65301179C>T	ENST00000370621.3	-	26	5107	c.4581G>A	c.(4579-4581)caG>caA	p.Q1527Q	EYS_ENST00000370616.2_Silent_p.Q1527Q|EYS_ENST00000503581.1_Silent_p.Q1527Q			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1527					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CAGTAATAGCCTGATATTCAC	0.393																																																	0													50.0	42.0	44.0					6																	65301179		692	1590	2282	SO:0001819	synonymous_variant	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.4581G>A	6.37:g.65301179C>T			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.Q1527	ENST00000370621.3	37	c.4581		6																																																																																			EYS	-	NULL	ENSG00000188107		0.393	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0.00	35	0	C	XM_294050		65301179	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	silent	23.08	40	12	SNP	0.004	T
EYS	346007	genome.wustl.edu	37	6	65301203	65301203	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:65301203T>G	ENST00000370621.3	-	26	5083	c.4557A>C	c.(4555-4557)aaA>aaC	p.K1519N	EYS_ENST00000370616.2_Missense_Mutation_p.K1519N|EYS_ENST00000503581.1_Missense_Mutation_p.K1519N			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1519					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GATTGAAGGCTTTTGTACTGA	0.418																																																	0													50.0	42.0	44.0					6																	65301203		692	1590	2282	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.4557A>C	6.37:g.65301203T>G	ENSP00000359655:p.Lys1519Asn		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.K1519N	ENST00000370621.3	37	c.4557		6	.	.	.	.	.	.	.	.	.	.	T	6.588	0.476899	0.12521	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.84516	-1.86;-1.84;-1.84	5.7	3.34	0.38264	.	.	.	.	.	T	0.48314	0.1493	N	0.08118	0	0.09310	N	0.999994	B;B	0.29805	0.257;0.167	B;B	0.26864	0.074;0.034	T	0.38023	-0.9680	9	0.24483	T	0.36	.	8.4075	0.32622	0.0:0.1538:0.0:0.8462	.	1519;1519	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	N	1519	ENSP00000424243:K1519N;ENSP00000359655:K1519N;ENSP00000359650:K1519N	ENSP00000359650:K1519N	K	-	3	2	EYS	65357924	0.291000	0.24352	0.001000	0.08648	0.078000	0.17371	2.439000	0.44846	0.454000	0.26884	0.482000	0.46254	AAA	EYS	-	NULL	ENSG00000188107		0.418	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0.00	34	0	T	XM_294050		65301203	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	26.42	39	14	SNP	0.022	G
EYS	346007	genome.wustl.edu	37	6	66205147	66205147	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:66205147A>C	ENST00000370621.3	-	4	683	c.157T>G	c.(157-159)Ttc>Gtc	p.F53V	EYS_ENST00000370618.3_Missense_Mutation_p.F53V|EYS_ENST00000370616.2_Missense_Mutation_p.F53V|EYS_ENST00000342421.5_Missense_Mutation_p.F53V|EYS_ENST00000393380.2_Missense_Mutation_p.F53V|EYS_ENST00000503581.1_Missense_Mutation_p.F53V			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	53					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCTCTGTAGAAGTCCAAGCAG	0.398																																																	0													108.0	108.0	108.0					6																	66205147		2203	4300	6503	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.157T>G	6.37:g.66205147A>C	ENSP00000359655:p.Phe53Val		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.F53V	ENST00000370621.3	37	c.157		6	.	.	.	.	.	.	.	.	.	.	A	7.746	0.702237	0.15172	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;D;D;D	0.89196	-1.44;-1.43;-1.43;-2.48;-2.44;-2.44	5.13	2.68	0.31781	.	.	.	.	.	T	0.59569	0.2203	N	0.08118	0	0.09310	N	1	B;B;B	0.27351	0.176;0.025;0.014	B;B;B	0.24541	0.054;0.017;0.013	T	0.55127	-0.8189	9	0.72032	D	0.01	.	6.0225	0.19636	0.7495:0.1647:0.0858:0.0	.	53;53;53	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	V	53	ENSP00000424243:F53V;ENSP00000359655:F53V;ENSP00000359650:F53V;ENSP00000377042:F53V;ENSP00000341818:F53V;ENSP00000359652:F53V	ENSP00000341818:F53V	F	-	1	0	EYS	66261868	0.000000	0.05858	0.000000	0.03702	0.671000	0.39405	0.707000	0.25704	0.339000	0.23719	0.482000	0.46254	TTC	EYS	-	NULL	ENSG00000188107		0.398	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0.00	42	0	A	XM_294050		66205147	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	8.33	55	5	SNP	0.001	C
F13B	2165	genome.wustl.edu	37	1	197008522	197008522	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:197008522G>T	ENST00000367412.1	-	12	2015	c.1972C>A	c.(1972-1974)Ccc>Acc	p.P658T	F13B_ENST00000490002.1_5'Flank	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	658					blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GTTCTTAAGGGTTCTTGATAA	0.303																																																	0													149.0	168.0	161.0					1																	197008522		2203	4298	6501	SO:0001583	missense	0			M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1972C>A	1.37:g.197008522G>T	ENSP00000356382:p.Pro658Thr		A8K3E5|Q5VYL5	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.P658T	ENST00000367412.1	37	c.1972	CCDS1388.1	1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.800552	0.00611	.	.	ENSG00000143278	ENST00000367412	D	0.82433	-1.61	4.29	0.088	0.14452	Complement control module (1);	.	.	.	.	T	0.69904	0.3163	L	0.29908	0.895	0.09310	N	0.999999	B	0.16802	0.019	B	0.14578	0.011	T	0.58244	-0.7670	9	0.62326	D	0.03	.	4.0954	0.09988	0.3129:0.1823:0.5049:0.0	.	658	P05160	F13B_HUMAN	T	658	ENSP00000356382:P658T	ENSP00000356382:P658T	P	-	1	0	F13B	195275145	0.146000	0.22672	0.067000	0.19924	0.007000	0.05969	0.156000	0.16382	-0.066000	0.12998	-0.444000	0.05651	CCC	F13B	-	superfamily_Sushi_SCR_CCP	ENSG00000143278		0.303	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13B	HGNC	protein_coding	OTTHUMT00000088821.2		0.00	43	0	G	NM_001994		197008522	-1			no_errors	ENST00000367412	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.109	T
F8	2157	genome.wustl.edu	37	X	154158885	154158885	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:154158885delT	ENST00000360256.4	-	14	3380	c.3180delA	c.(3178-3180)aaafs	p.K1060fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1060	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGGTGTCACTTTTTTAAACT	0.328																																																	0													110.0	101.0	104.0					X																	154158885		2203	4300	6503	SO:0001589	frameshift_variant	0			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3180delA	X.37:g.154158885delT	ENSP00000353393:p.Lys1060fs		Q14286|Q5HY69	Frame_Shift_Del	DEL	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.V1061fs	ENST00000360256.4	37	c.3180	CCDS35457.1	X																																																																																			F8	-	NULL	ENSG00000185010		0.328	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4		0.00	24	0	T			154158885	-1	tier1		no_errors	ENST00000360256	ensembl	human	known	74_37	frame_shift_del	42.50	23	17	DEL	0.119	-
FAF2	23197	genome.wustl.edu	37	5	175906212	175906212	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:175906212G>T	ENST00000261942.6	+	2	140	c.87G>T	c.(85-87)atG>atT	p.M29I	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	29	UBA.				lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						TCGAATCTATGGATCAGTGTC	0.383																																																	0													202.0	179.0	187.0					5																	175906212		2203	4300	6503	SO:0001583	missense	0			BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"""UBX domain containing"""	24666	protein-coding gene	gene with protein product	"""expressed in T cells and eosinophils in atopic dermatitis"", ""UBX domain protein 3B"""		"""UBX domain containing 8"""	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.87G>T	5.37:g.175906212G>T	ENSP00000261942:p.Met29Ile		O94963|Q8IUF2|Q9BRP2|Q9BVM7	Missense_Mutation	SNP	pfam_UBX,superfamily_UBA-like,smart_UAS,pfscan_UBX	p.M29I	ENST00000261942.6	37	c.87	CCDS34296.1	5	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208823	0.58343	.	.	ENSG00000113194	ENST00000510730;ENST00000261942;ENST00000540174	.	.	.	5.11	5.11	0.69529	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.50616	0.1626	N	0.24115	0.695	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.40213	-0.9575	9	0.28530	T	0.3	-20.4751	18.9221	0.92529	0.0:0.0:1.0:0.0	.	29	Q96CS3	FAF2_HUMAN	I	9;29;29	.	ENSP00000261942:M29I	M	+	3	0	FAF2	175838818	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.958000	0.93099	2.520000	0.84964	0.650000	0.86243	ATG	FAF2	-	superfamily_UBA-like	ENSG00000113194		0.383	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF2	HGNC	protein_coding	OTTHUMT00000372194.1	-	0.00	90	0	G	NM_014613		175906212	+1	tier1	-	no_errors	ENST00000261942	ensembl	human	known	74_37	missense	5.62	84	5	SNP	1.000	T
FAM129B	64855	genome.wustl.edu	37	9	130287350	130287350	+	Silent	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:130287350G>T	ENST00000373312.3	-	4	621	c.408C>A	c.(406-408)ggC>ggA	p.G136G	FAM129B_ENST00000373314.3_Silent_p.G123G|FAM129B_ENST00000468379.1_5'UTR	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	136	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GTAAGGAGTTGCCAATGAGCT	0.597																																																	0													128.0	106.0	113.0					9																	130287350		2203	4300	6503	SO:0001819	synonymous_variant	0			AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.408C>A	9.37:g.130287350G>T			Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Silent	SNP	pfscan_Pleckstrin_homology	p.G136	ENST00000373312.3	37	c.408	CCDS35145.1	9																																																																																			FAM129B	-	pfscan_Pleckstrin_homology	ENSG00000136830		0.597	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129B	HGNC	protein_coding	OTTHUMT00000054196.1	-	0.00	35	0	G	NM_022833		130287350	-1	tier1	-	no_errors	ENST00000373312	ensembl	human	known	74_37	silent	8.70	42	4	SNP	0.976	T
FAM171B	165215	genome.wustl.edu	37	2	187559095	187559095	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:187559095G>T	ENST00000304698.5	+	1	398	c.195G>T	c.(193-195)gaG>gaT	p.E65D	AC017101.10_ENST00000453665.1_RNA	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	65						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CTGAGGAGGAGAGGACAGAGG	0.617																																																	0													34.0	36.0	36.0					2																	187559095		2203	4299	6502	SO:0001583	missense	0			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.195G>T	2.37:g.187559095G>T	ENSP00000304108:p.Glu65Asp		Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	pfam_Uncharacterised_FAM171	p.E65D	ENST00000304698.5	37	c.195	CCDS33347.1	2	.	.	.	.	.	.	.	.	.	.	G	9.419	1.082616	0.20309	.	.	ENSG00000144369	ENST00000304698;ENST00000272804	T	0.43688	0.94	3.8	-2.11	0.07187	.	1.045680	0.07563	N	0.917322	T	0.21145	0.0509	N	0.19112	0.55	0.20489	N	0.999899	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20338	-1.0278	10	0.25751	T	0.34	-0.0354	1.2836	0.02046	0.1978:0.3223:0.3158:0.1641	.	65;66	Q6P995;A8K122	F171B_HUMAN;.	D	65	ENSP00000304108:E65D	ENSP00000272804:E65D	E	+	3	2	FAM171B	187267340	1.000000	0.71417	0.361000	0.25849	0.359000	0.29487	1.186000	0.32078	-0.199000	0.10317	-0.195000	0.12781	GAG	FAM171B	-	NULL	ENSG00000144369		0.617	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171B	HGNC	protein_coding	OTTHUMT00000334679.1	-	0.00	59	0	G	NM_177454		187559095	+1	tier1	-	no_errors	ENST00000304698	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.675	T
FAM184A	79632	genome.wustl.edu	37	6	119281960	119281960	+	Intron	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:119281960G>A	ENST00000338891.7	-	18	3785				RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Intron|FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000521531.1_Intron	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A							extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TACAAGGCACGCAACAATGTG	0.368																																																	0													56.0	51.0	53.0					6																	119281960		876	1991	2867	SO:0001627	intron_variant	0			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.3342-611C>T	6.37:g.119281960G>A			B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Silent	SNP	NULL	p.C130	ENST00000338891.7	37	c.390	CCDS43499.1	6																																																																																			FAM184A	-	NULL	ENSG00000111879		0.368	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3	-	0.00	24	0	G	NM_024581		119281960	-1	tier1	-	no_errors	ENST00000368472	ensembl	human	novel	74_37	silent	34.62	17	9	SNP	1.000	A
FAM188B	84182	genome.wustl.edu	37	7	30915161	30915161	+	Missense_Mutation	SNP	G	G	A	rs375320849		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:30915161G>A	ENST00000265299.6	+	15	1938	c.1861G>A	c.(1861-1863)Gat>Aat	p.D621N	AQP1_ENST00000434909.2_De_novo_Start_OutOfFrame|AQP1_ENST00000509504.1_Missense_Mutation_p.D84N|INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	621										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGTTTTCAACGATGTGGTTGA	0.458																																																	0								G	ASN/ASP	0,4042		0,0,2021	273.0	273.0	273.0		1861	4.8	0.7	7		273	1,8357		0,1,4178	no	missense	FAM188B	NM_032222.2	23	0,1,6199	AA,AG,GG		0.012,0.0,0.0081	possibly-damaging	621/758	30915161	1,12399	2021	4179	6200	SO:0001583	missense	0			AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1861G>A	7.37:g.30915161G>A	ENSP00000265299:p.Asp621Asn		Q71AZ7|Q9H6D2	Missense_Mutation	SNP	NULL	p.D621N	ENST00000265299.6	37	c.1861	CCDS43565.1	7	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671744	0.47781	0.0	1.2E-4	ENSG00000106125;ENSG00000106125;ENSG00000250424	ENST00000265299;ENST00000409881;ENST00000509504	T;T	0.34667	1.35;1.35	5.67	4.8	0.61643	.	0.102425	0.64402	D	0.000005	T	0.22781	0.0550	N	0.12663	0.25	0.80722	D	1	P;P	0.51449	0.673;0.945	B;B	0.41236	0.122;0.351	T	0.08269	-1.0730	10	0.87932	D	0	-19.7788	12.49	0.55895	0.0809:0.0:0.9191:0.0	.	141;621	B8ZZX1;Q4G0A6	.;F188B_HUMAN	N	621;141;84	ENSP00000265299:D621N;ENSP00000421315:D84N	ENSP00000265299:D621N	D	+	1	0	RP5-877J2.1;FAM188B	30881686	0.996000	0.38824	0.733000	0.30861	0.272000	0.26649	2.373000	0.44266	1.428000	0.47296	0.650000	0.86243	GAT	FAM188B	-	NULL	ENSG00000106125		0.458	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM188B	HGNC	protein_coding	OTTHUMT00000327962.1	-	0.00	57	0	G	NM_032222		30915161	+1	tier1	-	no_errors	ENST00000265299	ensembl	human	known	74_37	missense	23.46	62	19	SNP	0.994	A
RTFDC1	51507	genome.wustl.edu	37	20	55093338	55093338	+	3'UTR	SNP	G	G	A	rs374171522		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:55093338G>A	ENST00000023939.4	+	0	1045				RTFDC1_ENST00000357348.5_3'UTR|RTFDC1_ENST00000395881.3_3'UTR|FAM209A_ENST00000481560.1_3'UTR|GCNT7_ENST00000243913.4_Intron	NM_001283035.1|NM_001283036.1|NM_016407.3	NP_001269964.1|NP_001269965.1|NP_057491.2	Q9BY42	RTF2_HUMAN	replication termination factor 2 domain containing 1																		CACTGCCACCGCTCCTGCCCC	0.567																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF161513	CCDS13453.1, CCDS63316.1, CCDS63317.1	20q13	2012-10-29	2012-10-29	2012-10-29	ENSG00000022277	ENSG00000022277			15890	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 43"""	C20orf43			Standard	NM_001283035		Approved	HSPC164, CDAO5	uc002xxt.2	Q9BY42	OTTHUMG00000032801	ENST00000023939.4:c.*17G>A	20.37:g.55093338G>A			E1P5Z9|Q9BYL7|Q9HCV9|Q9NX29|Q9NZZ8|Q9P002|Q9UHW3	RNA	SNP	-	NULL	ENST00000023939.4	37	NULL	CCDS13453.1	20																																																																																			FAM209A	-	-	ENSG00000124103		0.567	RTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM209A	HGNC	protein_coding	OTTHUMT00000079817.2	-	0.00	41	0	G	NM_016407		55093338	+1	tier1	-	no_errors	ENST00000481560	ensembl	human	known	74_37	rna	28.26	33	13	SNP	0.000	A
FAM47A	158724	genome.wustl.edu	37	X	34149725	34149725	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:34149725C>T	ENST00000346193.3	-	1	722	c.671G>A	c.(670-672)cGc>cAc	p.R224H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	224	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGGCTCCGGGCGGAGACTGGA	0.662																																																	0													30.0	33.0	32.0					X																	34149725		2201	4297	6498	SO:0001583	missense	0			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.671G>A	X.37:g.34149725C>T	ENSP00000345029:p.Arg224His		A8K8I9|Q8TAA0	Missense_Mutation	SNP	NULL	p.R224H	ENST00000346193.3	37	c.671	CCDS43926.1	X	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.580154	0.00879	.	.	ENSG00000185448	ENST00000346193	T	0.21191	2.02	0.235	-0.47	0.12131	.	.	.	.	.	T	0.08537	0.0212	N	0.11201	0.11	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.36383	-0.9750	8	0.22109	T	0.4	.	.	.	.	.	224	Q5JRC9	FA47A_HUMAN	H	224	ENSP00000345029:R224H	ENSP00000345029:R224H	R	-	2	0	FAM47A	34059646	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.631000	0.02026	-0.724000	0.04908	-0.713000	0.03633	CGC	FAM47A	-	NULL	ENSG00000185448		0.662	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	HGNC	protein_coding	OTTHUMT00000056205.1	-	0.00	99	0	C	NM_203408		34149725	-1	tier1	-	no_errors	ENST00000346193	ensembl	human	known	74_37	missense	81.33	27	122	SNP	0.001	T
FARP1	10160	genome.wustl.edu	37	13	99090029	99090029	+	Intron	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr13:99090029T>C	ENST00000319562.6	+	20	2539				FARP1-AS1_ENST00000432229.1_RNA|FARP1_ENST00000595437.1_Missense_Mutation_p.F762L|FARP1_ENST00000376586.2_Missense_Mutation_p.F762L	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)						dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			gcctggctccttttcccttat	0.517																																																	0													103.0	95.0	98.0					13																	99090029		876	1991	2867	SO:0001627	intron_variant	0			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2275-1029T>C	13.37:g.99090029T>C			Q5JVI9|Q6IQ29	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.F762L	ENST00000319562.6	37	c.2284	CCDS9487.1	13	.	.	.	.	.	.	.	.	.	.	T	0.266	-0.996527	0.02145	.	.	ENSG00000152767	ENST00000376586	T	0.76578	-1.03	0.235	0.235	0.15431	.	22.652400	0.01083	U	0.005026	T	0.60741	0.2292	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.46233	-0.9206	8	0.16896	T	0.51	.	.	.	.	.	762	C9JME2	.	L	762	ENSP00000365771:F762L	ENSP00000365771:F762L	F	+	1	0	FARP1	97888030	0.018000	0.18449	0.018000	0.16275	0.019000	0.09904	0.286000	0.18902	0.263000	0.21812	0.260000	0.18958	TTT	FARP1	-	NULL	ENSG00000152767		0.517	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP1	HGNC	protein_coding	OTTHUMT00000045541.3	-	0.00	65	0	T	NM_005766		99090029	+1	tier1	-	no_errors	ENST00000376586	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.021	C
FAT3	120114	genome.wustl.edu	37	11	92565079	92565079	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:92565079delT	ENST00000298047.6	+	13	9790	c.9773delT	c.(9772-9774)gttfs	p.V3258fs	FAT3_ENST00000409404.2_Frame_Shift_Del_p.V3258fs|FAT3_ENST00000525166.1_Frame_Shift_Del_p.V3108fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3258	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTCCTTGCTGTTTTTGCCACC	0.507										TCGA Ovarian(4;0.039)																																							0													52.0	54.0	53.0					11																	92565079		1942	4156	6098	SO:0001589	frameshift_variant	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9773delT	11.37:g.92565079delT	ENSP00000298047:p.Val3258fs		B5MDB0|Q96AU6	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.F3259fs	ENST00000298047.6	37	c.9773		11																																																																																			FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.507	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding			0.00	28	0	T	NM_001008781		92565079	+1	tier1		no_errors	ENST00000298047	ensembl	human	known	74_37	frame_shift_del	9.09	20	2	DEL	1.000	-
FAT4	79633	genome.wustl.edu	37	4	126328257	126328257	+	Missense_Mutation	SNP	C	C	A	rs76963800	byFrequency	TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:126328257C>A	ENST00000394329.3	+	3	5543	c.5530C>A	c.(5530-5532)Ccc>Acc	p.P1844T	FAT4_ENST00000335110.5_Missense_Mutation_p.P142T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1844	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATTTTCCAGACCCGTGTACTC	0.413																																																	0													136.0	131.0	133.0					4																	126328257		2203	4300	6503	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5530C>A	4.37:g.126328257C>A	ENSP00000377862:p.Pro1844Thr		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.P1844T	ENST00000394329.3	37	c.5530	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.672063	0.00758	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.03035	4.07;4.07	5.41	5.41	0.78517	Cadherin (2);Cadherin-like (1);	0.000000	0.34314	U	0.004061	T	0.02455	0.0075	N	0.15975	0.35	0.18873	N	0.999981	B;B	0.28900	0.042;0.227	B;B	0.28465	0.037;0.09	T	0.50136	-0.8863	10	0.15499	T	0.54	.	9.5299	0.39187	0.0:0.7812:0.1438:0.075	.	142;1844	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	T	1844;142	ENSP00000377862:P1844T;ENSP00000335169:P142T	ENSP00000335169:P142T	P	+	1	0	FAT4	126547707	0.011000	0.17503	0.955000	0.39395	0.329000	0.28539	1.391000	0.34475	2.684000	0.91462	0.650000	0.86243	CCC	FAT4	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000196159		0.413	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0.00	46	0	C	NM_024582		126328257	+1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	missense	31.03	20	9	SNP	0.178	A
FBN1	2200	genome.wustl.edu	37	15	48779552	48779552	+	Silent	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:48779552G>A	ENST00000316623.5	-	28	3875	c.3420C>T	c.(3418-3420)tgC>tgT	p.C1140C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1140	EGF-like 17; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGCCAGGCGGGCATTCACAGC	0.478																																																	0			GRCh37	CM074851	FBN1	M							130.0	126.0	127.0					15																	48779552		2198	4296	6494	SO:0001819	synonymous_variant	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3420C>T	15.37:g.48779552G>A			B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.C1140	ENST00000316623.5	37	c.3420	CCDS32232.1	15																																																																																			FBN1	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom	ENSG00000166147		0.478	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	-	0.00	68	0	G			48779552	-1	tier1	-	no_errors	ENST00000316623	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.993	A
FBN2	2201	genome.wustl.edu	37	5	127654614	127654614	+	Silent	SNP	G	G	A	rs144018137		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:127654614G>A	ENST00000508053.1	-	41	5525	c.4551C>T	c.(4549-4551)tgC>tgT	p.C1517C	FBN2_ENST00000262464.4_Silent_p.C1517C			P35556	FBN2_HUMAN	fibrillin 2	1517	EGF-like 25; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C1517C(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AACCATCATCGCAGATGCAAT	0.373																																																	1	Substitution - coding silent(1)	large_intestine(1)						G		0,4406		0,0,2203	113.0	106.0	108.0		4551	-5.1	1.0	5	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FBN2	NM_001999.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1517/2913	127654614	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4551C>T	5.37:g.127654614G>A			B4DU01|Q59ES6	Silent	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.C1517	ENST00000508053.1	37	c.4551	CCDS34222.1	5																																																																																			FBN2	-	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000138829		0.373	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	-	0.00	42	0	G	NM_001999		127654614	-1	tier1	rs144018137	no_errors	ENST00000262464	ensembl	human	known	74_37	silent	45.71	19	16	SNP	0.907	A
FERD3L	222894	genome.wustl.edu	37	7	19184648	19184648	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:19184648C>T	ENST00000275461.3	-	1	396	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	113	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						GTTGAACATCCGCTTCCTTTC	0.617																																																	0													99.0	80.0	87.0					7																	19184648		2203	4300	6503	SO:0001583	missense	0			AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.338G>A	7.37:g.19184648C>T	ENSP00000275461:p.Arg113Gln		Q495K0	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R113Q	ENST00000275461.3	37	c.338	CCDS5368.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.581450	0.96565	.	.	ENSG00000146618	ENST00000275461	D	0.99722	-6.53	5.66	5.66	0.87406	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	H	0.99042	4.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96451	0.9334	10	0.87932	D	0	-21.6828	19.751	0.96268	0.0:1.0:0.0:0.0	.	113	Q96RJ6	FER3L_HUMAN	Q	113	ENSP00000275461:R113Q	ENSP00000275461:R113Q	R	-	2	0	FERD3L	19151173	1.000000	0.71417	0.989000	0.46669	0.975000	0.68041	7.818000	0.86416	2.693000	0.91896	0.650000	0.86243	CGG	FERD3L	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000146618		0.617	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERD3L	HGNC	protein_coding	OTTHUMT00000207627.1	-	0.00	34	0	C			19184648	-1	tier1	-	no_errors	ENST00000275461	ensembl	human	known	74_37	missense	38.10	39	24	SNP	1.000	T
FIGN	55137	genome.wustl.edu	37	2	164466996	164466996	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:164466996G>T	ENST00000333129.3	-	3	1660	c.1346C>A	c.(1345-1347)gCa>gAa	p.A449E	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	449					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TGAGGTAGCTGCACGGAGTCC	0.532																																																	0													106.0	109.0	108.0					2																	164466996		2149	4248	6397	SO:0001583	missense	0			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1346C>A	2.37:g.164466996G>T	ENSP00000333836:p.Ala449Glu		B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A449E	ENST00000333129.3	37	c.1346	CCDS2221.2	2	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609140	0.28623	.	.	ENSG00000182263	ENST00000333129	D	0.92048	-2.96	5.9	5.9	0.94986	.	0.252645	0.41605	D	0.000847	D	0.84410	0.5466	N	0.08118	0	0.58432	D	0.999998	B	0.12630	0.006	B	0.06405	0.002	T	0.78168	-0.2309	10	0.18710	T	0.47	-9.8151	20.2723	0.98479	0.0:0.0:1.0:0.0	.	449	Q5HY92	FIGN_HUMAN	E	449	ENSP00000333836:A449E	ENSP00000333836:A449E	A	-	2	0	FIGN	164175242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.793000	0.96121	0.563000	0.77884	GCA	FIGN	-	NULL	ENSG00000182263		0.532	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGN	HGNC	protein_coding	OTTHUMT00000157220.2	-	0.00	55	0	G	NM_018086		164466996	-1	tier1	-	no_errors	ENST00000333129	ensembl	human	known	74_37	missense	23.91	35	11	SNP	1.000	T
LINC01446	401337	genome.wustl.edu	37	7	53879353	53879353	+	lincRNA	SNP	T	T	G	rs111555766		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:53879353T>G	ENST00000380970.2	-	0	271					NR_038371.1																						gggagcttacttggggaactg	0.597																																																	0																																												0																															7.37:g.53879353T>G				RNA	SNP	-	NULL	ENST00000380970.2	37	NULL		7																																																																																			GS1-179L18.1	-	-	ENSG00000205628		0.597	GS1-179L18.1-001	KNOWN	basic	lincRNA	FLJ45974	Clone_based_vega_gene	lincRNA	OTTHUMT00000342819.1	-	0.00	45	0	T			53879353	-1	tier1	-	no_errors	ENST00000380970	ensembl	human	known	74_37	rna	30.51	41	18	SNP	0.037	G
FLRT3	23767	genome.wustl.edu	37	20	14306834	14306834	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:14306834C>A	ENST00000378053.3	-	2	1575	c.1319G>T	c.(1318-1320)tGg>tTg	p.W440L	MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000462077.1_5'Flank|FLRT3_ENST00000341420.4_Missense_Mutation_p.W440L	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	440	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CAGTTTAAGCCAGCTGAGTCT	0.438																																																	0													81.0	81.0	81.0					20																	14306834		2203	4300	6503	SO:0001583	missense	0			AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.1319G>T	20.37:g.14306834C>A	ENSP00000367292:p.Trp440Leu		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.W440L	ENST00000378053.3	37	c.1319	CCDS13121.1	20	.	.	.	.	.	.	.	.	.	.	C	16.12	3.031754	0.54790	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.39997	1.05;1.05	5.96	5.96	0.96718	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63042	-0.6725	10	0.56958	D	0.05	-5.0883	20.4043	0.99006	0.0:1.0:0.0:0.0	.	440	Q9NZU0	FLRT3_HUMAN	L	440	ENSP00000367292:W440L;ENSP00000339912:W440L	ENSP00000339912:W440L	W	-	2	0	FLRT3	14254834	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.920000	0.70017	2.823000	0.97156	0.650000	0.86243	TGG	FLRT3	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000125848		0.438	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT3	HGNC	protein_coding	OTTHUMT00000078075.1	-	0.00	21	0	C	NM_013281		14306834	-1	tier1	-	no_errors	ENST00000341420	ensembl	human	known	74_37	missense	36.36	21	12	SNP	1.000	A
FLVCR2	55640	genome.wustl.edu	37	14	76071965	76071965	+	Intron	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr14:76071965G>T	ENST00000238667.4	+	2	1025				FLVCR2_ENST00000539311.1_Nonsense_Mutation_p.E18*|RNA5SP387_ENST00000364226.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2						heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CGTGAGACAGGAGGTGAGGAT	0.532																																																	0																																										SO:0001627	intron_variant	0			AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.670-16457G>T	14.37:g.76071965G>T			B7Z485|Q53ZT9|Q96JY3|Q9NX90	Nonsense_Mutation	SNP	pfam_MFS,pfam_Atg22-like,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E18*	ENST00000238667.4	37	c.52	CCDS9844.1	14	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031020	0.93575	.	.	ENSG00000119686	ENST00000539311	.	.	.	3.62	0.753	0.18404	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	6.39	0.21581	0.2805:0.0:0.7195:0.0	.	.	.	.	X	18	.	ENSP00000443439:E18X	E	+	1	0	AC007182.1	75141718	0.003000	0.15002	0.000000	0.03702	0.367000	0.29736	1.014000	0.29950	0.155000	0.19261	0.591000	0.81541	GAG	FLVCR2	-	pfscan_MFS_dom	ENSG00000119686		0.532	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLVCR2	HGNC	protein_coding	OTTHUMT00000413672.1	-	0.00	38	0	G	NM_017791		76071965	+1	tier1	-	no_errors	ENST00000539311	ensembl	human	novel	74_37	nonsense	10.00	36	4	SNP	0.000	T
FMO5	2330	genome.wustl.edu	37	1	146672739	146672739	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:146672739A>G	ENST00000254090.4	-	7	1566	c.1178T>C	c.(1177-1179)tTt>tCt	p.F393S	FMO5_ENST00000441068.2_Missense_Mutation_p.F393S|FMO5_ENST00000369272.3_Intron|RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	393						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					CTTACCTTTAAATACCTGAGT	0.413																																																	0													72.0	69.0	70.0					1																	146672739		2203	4300	6503	SO:0001583	missense	0			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.1178T>C	1.37:g.146672739A>G	ENSP00000254090:p.Phe393Ser		B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1	p.F393S	ENST00000254090.4	37	c.1178	CCDS926.1	1	.	.	.	.	.	.	.	.	.	.	.	21.6	4.180443	0.78677	.	.	ENSG00000131781	ENST00000441068;ENST00000254090	T;T	0.56444	0.46;0.46	6.08	4.94	0.65067	.	0.104155	0.64402	D	0.000002	T	0.72708	0.3494	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.989	T	0.80139	-0.1507	10	0.72032	D	0.01	-7.2333	10.9198	0.47158	0.8594:0.0:0.0:0.1406	.	393;393	P49326;C9JJD1	FMO5_HUMAN;.	S	393	ENSP00000416011:F393S;ENSP00000254090:F393S	ENSP00000254090:F393S	F	-	2	0	FMO5	145139363	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.320000	0.96346	1.095000	0.41419	0.482000	0.46254	TTT	FMO5	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase	ENSG00000131781		0.413	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO5	HGNC	protein_coding	OTTHUMT00000040373.2		0.00	42	0	A	NM_001461		146672739	-1			no_errors	ENST00000254090	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	G
FMR1NB	158521	genome.wustl.edu	37	X	147084798	147084798	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:147084798G>A	ENST00000370467.3	+	2	429	c.355G>A	c.(355-357)Gat>Aat	p.D119N		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	119						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGGAAGAAGATTCCGCATT	0.353																																																	0													121.0	112.0	115.0					X																	147084798		2203	4300	6503	SO:0001583	missense	0				CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.355G>A	X.37:g.147084798G>A	ENSP00000359498:p.Asp119Asn		D3DWT3	Missense_Mutation	SNP	superfamily_P_trefoil	p.D119N	ENST00000370467.3	37	c.355	CCDS14683.1	X	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697142	0.48202	.	.	ENSG00000176988	ENST00000370467	T	0.48201	0.82	4.94	-7.26	0.01466	.	5.383350	0.00166	N	0.000019	T	0.19765	0.0475	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.12837	0.008	T	0.18840	-1.0324	10	0.08381	T	0.77	6.007	3.4516	0.07501	0.3133:0.4453:0.1295:0.112	.	119	Q8N0W7	FMR1N_HUMAN	N	119	ENSP00000359498:D119N	ENSP00000359498:D119N	D	+	1	0	FMR1NB	146892490	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.508000	0.02266	-1.062000	0.03181	-0.237000	0.12165	GAT	FMR1NB	-	NULL	ENSG00000176988		0.353	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMR1NB	HGNC	protein_coding	OTTHUMT00000058667.1	-	0.00	47	0	G	NM_152578		147084798	+1	tier1	-	no_errors	ENST00000370467	ensembl	human	known	74_37	missense	36.17	30	17	SNP	0.000	A
FNDC1	84624	genome.wustl.edu	37	6	159659685	159659685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:159659685C>T	ENST00000297267.9	+	13	4368	c.4168C>T	c.(4168-4170)Cga>Tga	p.R1390*	FNDC1_ENST00000340366.6_Nonsense_Mutation_p.R1327*|FNDC1-IT1_ENST00000419703.1_RNA	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1390					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGGAGATGGTCGAACCATTGT	0.408																																																	0													82.0	71.0	75.0					6																	159659685		1847	4097	5944	SO:0001587	stop_gained	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4168C>T	6.37:g.159659685C>T	ENSP00000297267:p.Arg1390*		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R1390*	ENST00000297267.9	37	c.4168	CCDS47512.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	45|45	11.978899|11.978899	0.99623|0.99623	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	.|.	.|.	.|.	6.03|6.03	5.14|5.14	0.70334|0.70334	.|.	0.067516|.	0.64402|.	D|.	0.000012|.	.|T	.|0.64371	.|0.2592	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66135	.|-0.5999	.|3	0.02654|.	T|.	1|.	-2.9057|-2.9057	16.4709|16.4709	0.84112|0.84112	0.1322:0.8678:0.0:0.0|0.1322:0.8678:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1390;1327|1285	.|.	ENSP00000297267:R1390X|.	R|S	+|+	1|2	2|0	FNDC1|FNDC1	159579675|159579675	0.960000|0.960000	0.32886|0.32886	0.695000|0.695000	0.30226|0.30226	0.947000|0.947000	0.59692|0.59692	2.276000|2.276000	0.43408|0.43408	1.514000|1.514000	0.48869|0.48869	0.655000|0.655000	0.94253|0.94253	CGA|TCG	FNDC1	-	NULL	ENSG00000164694		0.408	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	-	0.00	50	0	C	NM_032532		159659685	+1	tier1	-	no_errors	ENST00000297267	ensembl	human	known	74_37	nonsense	41.38	17	12	SNP	0.902	T
FRG1	2483	genome.wustl.edu	37	4	190874255	190874255	+	Missense_Mutation	SNP	A	A	T	rs17425201		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:190874255A>T	ENST00000226798.4	+	4	514	c.292A>T	c.(292-294)Acg>Tcg	p.T98S	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	98					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.T98S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGAGCAGTTTACGGCTGTCAA	0.269																																																	1	Substitution - Missense(1)	NS(1)																																								SO:0001583	missense	0			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.292A>T	4.37:g.190874255A>T	ENSP00000226798:p.Thr98Ser		A8K775	Missense_Mutation	SNP	pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking	p.T98S	ENST00000226798.4	37	c.292	CCDS34121.1	4	.	.	.	.	.	.	.	.	.	.	.	15.38	2.815686	0.50527	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.52057	1.8;0.68	3.71	3.71	0.42584	Actin cross-linking (1);	0.093692	0.64402	D	0.000001	T	0.23926	0.0579	N	0.02539	-0.55	0.58432	D	0.999999	B	0.20261	0.043	B	0.27796	0.083	T	0.08207	-1.0733	10	0.39692	T	0.17	-1.9466	11.0497	0.47880	1.0:0.0:0.0:0.0	rs17425201	98	Q14331	FRG1_HUMAN	S	98;35	ENSP00000226798:T98S;ENSP00000435943:T35S	ENSP00000226798:T98S	T	+	1	0	FRG1	191111249	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.637000	0.74304	1.645000	0.50612	0.514000	0.50259	ACG	FRG1	-	pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking	ENSG00000109536		0.269	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FRG1	HGNC	protein_coding	OTTHUMT00000359622.4	-	0.00	162	0	A	NM_004477		190874255	+1	tier1	rs75162394	no_errors	ENST00000226798	ensembl	human	known	74_37	missense	5.32	178	10	SNP	1.000	T
FSIP2	401024	genome.wustl.edu	37	2	186665372	186665372	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:186665372C>T	ENST00000424728.1	+	17	11339	c.11339C>T	c.(11338-11340)tCa>tTa	p.S3780L	AC008174.3_ENST00000436557.1_RNA|AC008174.3_ENST00000429929.1_RNA|FSIP2_ENST00000343098.5_Missense_Mutation_p.S3869L			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	3780										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GGGTCTGTTTCAGAGGAAACA	0.358																																																	0																																										SO:0001583	missense	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.11339C>T	2.37:g.186665372C>T	ENSP00000401306:p.Ser3780Leu		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.S3869L	ENST00000424728.1	37	c.11606		2	.	.	.	.	.	.	.	.	.	.	C	0.868	-0.732865	0.03135	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.53423	0.62;0.63	5.1	3.97	0.46021	.	.	.	.	.	T	0.23210	0.0561	N	0.14661	0.345	0.09310	N	1	.	.	.	.	.	.	T	0.24870	-1.0148	7	0.02654	T	1	.	7.1247	0.25465	0.0:0.8387:0.0:0.1613	.	.	.	.	L	3869;3780	ENSP00000344403:S3869L;ENSP00000401306:S3780L	ENSP00000344403:S3869L	S	+	2	0	FSIP2	186373617	0.032000	0.19561	0.003000	0.11579	0.030000	0.12068	0.741000	0.26202	1.033000	0.39918	0.460000	0.39030	TCA	FSIP2	-	NULL	ENSG00000188738		0.358	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	-	0.00	48	0	C	NM_173651		186665372	+1	tier1	-	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	25.64	29	10	SNP	0.009	T
FSTL1	11167	genome.wustl.edu	37	3	120121725	120121725	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:120121725C>A	ENST00000295633.3	-	9	1091	c.735G>T	c.(733-735)gaG>gaT	p.E245D	FSTL1_ENST00000424703.2_Missense_Mutation_p.E210D	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	245	VWFC.				BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		CCACCTCGGTCTCAGCTCCAT	0.522																																																	0													203.0	167.0	180.0					3																	120121725		2203	4300	6503	SO:0001583	missense	0			U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"""EF-hand domain containing"""	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.735G>T	3.37:g.120121725C>A	ENSP00000295633:p.Glu245Asp		A8K523|B4DTT5|D3DN90|Q549Z0	Missense_Mutation	SNP	pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Kazal_dom,pfscan_EF_hand_dom	p.E245D	ENST00000295633.3	37	c.735	CCDS2998.1	3	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128892	0.77549	.	.	ENSG00000163430	ENST00000295633;ENST00000539471;ENST00000424703	T;T	0.65732	-0.17;-0.17	5.67	4.81	0.61882	.	0.043525	0.85682	D	0.000000	T	0.73102	0.3544	M	0.72894	2.215	0.58432	D	0.999995	D;P	0.54772	0.968;0.929	P;P	0.56278	0.795;0.684	T	0.75645	-0.3246	10	0.51188	T	0.08	-26.1169	14.2691	0.66140	0.0:0.9285:0.0:0.0715	.	210;245	B4DTT5;Q12841	.;FSTL1_HUMAN	D	245;188;210	ENSP00000295633:E245D;ENSP00000394355:E210D	ENSP00000295633:E245D	E	-	3	2	FSTL1	121604415	1.000000	0.71417	0.997000	0.53966	0.543000	0.35085	3.682000	0.54656	1.543000	0.49345	-0.137000	0.14449	GAG	FSTL1	-	NULL	ENSG00000163430		0.522	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL1	HGNC	protein_coding	OTTHUMT00000355399.1	-	0.00	52	0	C	NM_007085		120121725	-1	tier1	-	no_errors	ENST00000295633	ensembl	human	known	74_37	missense	25.00	42	14	SNP	1.000	A
FSTL4	23105	genome.wustl.edu	37	5	132534840	132534840	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:132534840C>T	ENST00000265342.7	-	16	2725	c.2476G>A	c.(2476-2478)Gag>Aag	p.E826K	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	826						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTGACACCTCACACCGCAGC	0.577																																																	0													68.0	65.0	66.0					5																	132534840		2203	4300	6503	SO:0001583	missense	0			AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.2476G>A	5.37:g.132534840C>T	ENSP00000265342:p.Glu826Lys		Q8TBU0|Q9UPU1	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom	p.E826K	ENST00000265342.7	37	c.2476	CCDS34238.1	5	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387036	0.61956	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.62105	0.05	5.24	5.24	0.73138	Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.74876	0.3774	M	0.82323	2.585	0.80722	D	1	P;D	0.58970	0.926;0.984	P;P	0.51487	0.526;0.671	T	0.80480	-0.1364	10	0.87932	D	0	-33.8418	17.4006	0.87459	0.0:1.0:0.0:0.0	.	826;475	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	K	826;657	ENSP00000265342:E826K	ENSP00000265342:E826K	E	-	1	0	FSTL4	132562739	1.000000	0.71417	0.975000	0.42487	0.211000	0.24417	5.774000	0.68906	2.446000	0.82766	0.650000	0.86243	GAG	FSTL4	-	pfscan_Ig-like_dom	ENSG00000053108		0.577	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL4	HGNC	protein_coding	OTTHUMT00000370212.1	-	0.00	52	0	C	XM_048786		132534840	-1	tier1	-	no_errors	ENST00000265342	ensembl	human	known	74_37	missense	64.86	13	24	SNP	1.000	T
FUBP1	8880	genome.wustl.edu	37	1	78429758	78429760	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:78429758_78429760delGAA	ENST00000370768.2	-	12	1109_1111	c.1028_1030delTTC	c.(1027-1032)cttcga>cga	p.L343del	FUBP1_ENST00000436586.2_In_Frame_Del_p.L364del|FUBP1_ENST00000370767.1_In_Frame_Del_p.L343del	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	343					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGAACACTTCGAAGAAGGTCTGT	0.36			"""F, N"""		oligodendroglioma																																			Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	0																																										SO:0001651	inframe_deletion	0			U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1028_1030delTTC	1.37:g.78429761_78429763delGAA	ENSP00000359804:p.Leu343del		Q12828	In_Frame_Del	DEL	pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1	p.L364in_frame_del	ENST00000370768.2	37	c.1093_1091	CCDS683.1	1																																																																																			FUBP1	-	smart_KH_dom	ENSG00000162613		0.360	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP1	HGNC	protein_coding	OTTHUMT00000098030.3		0.00	24	0	GAA	NM_003902		78429760	-1	tier1		no_errors	ENST00000436586	ensembl	human	known	74_37	in_frame_del	31.58	13	6	DEL	1.000:0.996:1.000	-
GART	2618	genome.wustl.edu	37	21	34882121	34882122	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr21:34882121_34882122insT	ENST00000381831.3	-	18	2683_2684	c.2420_2421insA	c.(2419-2421)aagfs	p.K807fs	GART_ENST00000381839.3_Frame_Shift_Ins_p.K807fs|GART_ENST00000381815.4_Frame_Shift_Ins_p.K807fs|GART_ENST00000543717.1_Frame_Shift_Ins_p.K359fs	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	807	AIRS.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)	p.K807fs*7(2)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CCACTCTGGCCTTTTTTTTTTC	0.446																																																	2	Deletion - Frameshift(2)	ovary(2)																																								SO:0001589	frameshift_variant	0			M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.2421dupA	21.37:g.34882131_34882131dupT	ENSP00000371253:p.Lys807fs		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Frame_Shift_Ins	INS	pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans	p.A808fs	ENST00000381831.3	37	c.2421_2420	CCDS13627.1	21																																																																																			GART	-	superfamily_Formyl_transf_N,tigrfam_PurN_trans	ENSG00000159131		0.446	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GART	HGNC	protein_coding	OTTHUMT00000140626.3		0.00	45	0	-	NM_000819		34882122	-1	tier1		no_errors	ENST00000381815	ensembl	human	known	74_37	frame_shift_ins	10.20	44	5	INS	0.864:0.844	T
GATAD2A	54815	genome.wustl.edu	37	19	19609470	19609470	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:19609470C>G	ENST00000360315.3	+	8	1455	c.1143C>G	c.(1141-1143)aaC>aaG	p.N381K	GATAD2A_ENST00000537887.1_Missense_Mutation_p.N9K|GATAD2A_ENST00000358713.3_Missense_Mutation_p.N381K|GATAD2A_ENST00000252577.5_Missense_Mutation_p.N381K|GATAD2A_ENST00000429563.2_Missense_Mutation_p.N208K|GATAD2A_ENST00000404158.1_Missense_Mutation_p.N381K	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	381	CR2; histone tail-binding.				anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GCGCCGCCAACAACGAGTTCA	0.637																																																	0													52.0	48.0	50.0					19																	19609470		2203	4300	6503	SO:0001583	missense	0			AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1143C>G	19.37:g.19609470C>G	ENSP00000353463:p.Asn381Lys		B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	pfam_Znf_GATA,pfscan_Znf_GATA	p.N381K	ENST00000360315.3	37	c.1143	CCDS12402.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.077859|4.077859	0.76528|0.76528	.|.	.|.	ENSG00000167491|ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000537887;ENST00000404158;ENST00000358713;ENST00000429563|ENST00000418032	T;T;T;T|.	0.55760|.	0.94;0.97;0.94;0.5|.	5.65|5.65	-0.804|-0.804	0.10882|0.10882	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68238|0.68238	0.2979|0.2979	M|M	0.76574|0.76574	2.34|2.34	0.49798|0.49798	D|D	0.999827|0.999827	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.87578|.	0.996;0.998;0.997|.	T|T	0.66693|0.66693	-0.5859|-0.5859	10|5	0.72032|.	D|.	0.01|.	-13.9611|-13.9611	10.0604|10.0604	0.42270|0.42270	0.0:0.5485:0.0:0.4515|0.0:0.5485:0.0:0.4515	.|.	208;400;381|.	B4DKZ7;B5MC40;Q86YP4|.	.;.;P66A_HUMAN|.	K|E	381;381;9;400;381;208|7	ENSP00000353463:N381K;ENSP00000252577:N381K;ENSP00000351552:N381K;ENSP00000388416:N208K|.	ENSP00000252577:N381K|.	N|Q	+|+	3|1	2|0	GATAD2A|GATAD2A	19470470|19470470	0.984000|0.984000	0.35163|0.35163	0.974000|0.974000	0.42286|0.42286	0.953000|0.953000	0.61014|0.61014	0.275000|0.275000	0.18698|0.18698	-0.009000|-0.009000	0.14296|0.14296	0.650000|0.650000	0.86243|0.86243	AAC|CAA	GATAD2A	-	NULL	ENSG00000167491		0.637	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATAD2A	HGNC	protein_coding	OTTHUMT00000326671.4	-	0.00	58	0	C	NM_017660		19609470	+1	tier1	-	no_errors	ENST00000358713	ensembl	human	known	74_37	missense	16.28	36	7	SNP	0.998	G
GLI3	2737	genome.wustl.edu	37	7	42004322	42004322	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:42004322A>G	ENST00000395925.3	-	15	4433	c.4349T>C	c.(4348-4350)tTc>tCc	p.F1450S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1450					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TTGCTGACTGAAGCCCACGGT	0.507									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													61.0	61.0	61.0					7																	42004322		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.4349T>C	7.37:g.42004322A>G	ENSP00000379258:p.Phe1450Ser		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F1450S	ENST00000395925.3	37	c.4349	CCDS5465.1	7	.	.	.	.	.	.	.	.	.	.	A	17.07	3.295104	0.60086	.	.	ENSG00000106571	ENST00000395925	T	0.14640	2.49	5.62	4.45	0.53987	.	0.270254	0.43260	D	0.000593	T	0.10380	0.0254	L	0.29908	0.895	0.80722	D	1	B	0.23442	0.085	B	0.17979	0.02	T	0.10989	-1.0606	10	0.40728	T	0.16	.	10.12	0.42614	0.7329:0.0:0.0:0.2671	.	1450	P10071	GLI3_HUMAN	S	1450	ENSP00000379258:F1450S	ENSP00000379258:F1450S	F	-	2	0	GLI3	41970847	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	6.270000	0.72563	0.930000	0.37217	-0.327000	0.08410	TTC	GLI3	-	NULL	ENSG00000106571		0.507	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	-	0.00	51	0	A	NM_000168		42004322	-1	tier1	-	no_errors	ENST00000395925	ensembl	human	known	74_37	missense	30.43	32	14	SNP	1.000	G
GLRB	2743	genome.wustl.edu	37	4	158064985	158064985	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:158064985T>G	ENST00000264428.4	+	8	1048	c.778T>G	c.(778-780)Ttc>Gtc	p.F260V	GLRB_ENST00000509282.1_Missense_Mutation_p.F260V|GLRB_ENST00000541722.1_Missense_Mutation_p.F260V|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	260					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	GGAAGTCATCTTCACCCTGAG	0.502																																																	0													157.0	116.0	130.0					4																	158064985		2203	4300	6503	SO:0001583	missense	0			U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.778T>G	4.37:g.158064985T>G	ENSP00000264428:p.Phe260Val		A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.F260V	ENST00000264428.4	37	c.778	CCDS3796.1	4	.	.	.	.	.	.	.	.	.	.	T	29.8	5.039470	0.93630	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	T;T;T	0.79454	-1.27;-1.27;-1.27	5.93	5.93	0.95920	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.91092	0.7196	M	0.93898	3.47	0.80722	D	1	D	0.59357	0.985	D	0.72338	0.977	D	0.93190	0.6582	10	0.87932	D	0	.	16.3798	0.83452	0.0:0.0:0.0:1.0	.	260	P48167	GLRB_HUMAN	V	260	ENSP00000264428:F260V;ENSP00000441873:F260V;ENSP00000427186:F260V	ENSP00000264428:F260V	F	+	1	0	GLRB	158284435	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.982000	0.88131	2.271000	0.75665	0.533000	0.62120	TTC	GLRB	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000109738		0.502	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRB	HGNC	protein_coding	OTTHUMT00000366507.1	-	0.00	34	0	T	NM_000824		158064985	+1	tier1	-	no_errors	ENST00000264428	ensembl	human	known	74_37	missense	31.71	28	13	SNP	1.000	G
GMCL1	64395	genome.wustl.edu	37	2	70096753	70096753	+	Intron	SNP	C	C	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:70096753C>G	ENST00000282570.3	+	12	1469					NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						GAGGGAAATACTTGGAATGAG	0.323																																																	0																																										SO:0001627	intron_variant	0			AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"""BTB/POZ domain containing"""	23843	protein-coding gene	gene with protein product	"""spermatogenesis associated 29"""		"""germ cell-less homolog 1 (Drosophila)"""				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.1219-98C>G	2.37:g.70096753C>G			Q9H826|Q9H8V7|Q9H927	RNA	SNP	-	NULL	ENST00000282570.3	37	NULL	CCDS1895.1	2																																																																																			GMCL1	-	-	ENSG00000087338		0.323	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMCL1	HGNC	protein_coding	OTTHUMT00000251841.2	-	0.00	29	0	C	NM_178439		70096753	+1	tier1	-	no_errors	ENST00000495047	ensembl	human	putative	74_37	rna	33.33	12	6	SNP	0.004	G
GOLGA2P5	55592	genome.wustl.edu	37	12	100566933	100566933	+	RNA	SNP	G	G	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:100566933G>C	ENST00000397112.4	-	0	504				RP11-175P13.3_ENST00000548404.2_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						GGTTTCCTCCGATATCACAGG	0.547																																																	0																																												0																															12.37:g.100566933G>C			Q9NSV2	RNA	SNP	-	NULL	ENST00000397112.4	37	NULL		12																																																																																			GOLGA2B	-	-	ENSG00000238105		0.547	GOLGA2B-004	KNOWN	basic	processed_transcript	GOLGA2P5	Clone_based_vega_gene	pseudogene	OTTHUMT00000396439.2	-	0.00	29	0	G			100566933	-1	tier1	-	no_errors	ENST00000397112	ensembl	human	known	74_37	rna	78.57	6	22	SNP	0.572	C
GOLGA6B	55889	genome.wustl.edu	37	15	72953682	72953682	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:72953682C>T	ENST00000421285.3	+	8	642	c.642C>T	c.(640-642)caC>caT	p.H214H		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	214						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						TGAACGCACACGTGACACAGG	0.587																																																	0													36.0	45.0	42.0					15																	72953682		1403	2502	3905	SO:0001819	synonymous_variant	0				CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.642C>T	15.37:g.72953682C>T			A8MYY7	Silent	SNP	NULL	p.H214	ENST00000421285.3	37	c.642	CCDS10245.2	15																																																																																			GOLGA6B	-	NULL	ENSG00000215186		0.587	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6B	HGNC	protein_coding	OTTHUMT00000257474.4	-	0.00	227	0	C	NM_018652		72953682	+1	tier1	-	no_errors	ENST00000421285	ensembl	human	known	74_37	silent	5.60	219	13	SNP	0.706	T
GOLGA6C	653641	genome.wustl.edu	37	15	75558543	75558543	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:75558543G>T	ENST00000300576.5	+	11	945	c.945G>T	c.(943-945)gaG>gaT	p.E315D	RN7SL489P_ENST00000486185.2_RNA	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	315						Golgi apparatus (GO:0005794)				ovary(1)	1						AAGGTCTGGAGGGAAAGCTCC	0.577																																																	0													1.0	1.0	1.0					15																	75558543		315	746	1061	SO:0001583	missense	0				CCDS58388.1	15q24.2	2014-02-12	2010-02-12		ENSG00000167195	ENSG00000167195			32206	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6C"""				Standard	NM_001164404		Approved		uc002azs.2	A6NDK9	OTTHUMG00000172671	ENST00000300576.5:c.945G>T	15.37:g.75558543G>T	ENSP00000300576:p.Glu315Asp			Missense_Mutation	SNP	NULL	p.E315D	ENST00000300576.5	37	c.945	CCDS58388.1	15	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524793	0.27299	.	.	ENSG00000167195	ENST00000300576	T	0.22539	1.95	.	.	.	.	.	.	.	.	T	0.32194	0.0821	M	0.65498	2.005	0.18873	N	0.999985	P	0.49696	0.927	P	0.56563	0.801	T	0.12243	-1.0555	8	0.40728	T	0.16	.	5.9503	0.19242	6.0E-4:0.0:0.9994:0.0	.	315	A6NDK9	GOG6C_HUMAN	D	315	ENSP00000300576:E315D	ENSP00000300576:E315D	E	+	3	2	GOLGA6C	73345596	0.000000	0.05858	0.009000	0.14445	0.009000	0.06853	-1.638000	0.02013	0.159000	0.19401	0.162000	0.16502	GAG	GOLGA6C	-	NULL	ENSG00000167195		0.577	GOLGA6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6C	HGNC	protein_coding	OTTHUMT00000419797.1	-	0.00	22	0	G	NM_001164404		75558543	+1	tier1	-	no_errors	ENST00000300576	ensembl	human	known	74_37	missense	16.13	26	5	SNP	0.993	T
GOLGA6L3	100133220	genome.wustl.edu	37	15	83014132	83014132	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:83014132C>G	ENST00000557886.1	-	6	550	c.451G>C	c.(451-453)Gag>Cag	p.E151Q															p.E151Q(4)		endometrium(6)|kidney(5)|prostate(1)	12						GCTGGGGGCTCTGGGGCCAGG	0.522																																																	4	Substitution - Missense(4)	kidney(4)																																								SO:0001583	missense	0																														ENST00000557886.1:c.451G>C	15.37:g.83014132C>G	ENSP00000452844:p.Glu151Gln			Missense_Mutation	SNP	NULL	p.E151Q	ENST00000557886.1	37	c.451		15																																																																																			RP13-996F3.4	-	NULL	ENSG00000259243		0.522	RP13-996F3.4-001	PUTATIVE	basic|appris_principal	protein_coding	GOLGA6L3	Clone_based_vega_gene	protein_coding	OTTHUMT00000419277.1		0.00	24	0	C			83014132	-1			no_errors	ENST00000557886	ensembl	human	putative	74_37	missense	7.89	35	3	SNP	0.991	G
GPR88	54112	genome.wustl.edu	37	1	101004651	101004651	+	Silent	SNP	C	C	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:101004651C>A	ENST00000315033.4	+	2	568	c.129C>A	c.(127-129)atC>atA	p.I43I		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	43					G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuronal action potential (GO:0019228)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		GCCTGGCCATCGGGGGCACGC	0.667																																																	0													41.0	35.0	37.0					1																	101004651		2201	4300	6501	SO:0001819	synonymous_variant	0			AB042411	CCDS772.1	1p21.3	2012-08-21	2006-02-15		ENSG00000181656	ENSG00000181656		"""GPCR / Class A : Orphans"""	4539	protein-coding gene	gene with protein product		607468	"""G-protein coupled receptor 88"", ""G protein coupled receptor 88"""				Standard	NM_022049		Approved		uc001dth.3	Q9GZN0	OTTHUMG00000010981	ENST00000315033.4:c.129C>A	1.37:g.101004651C>A			Q29S24|Q6VN48	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.I43	ENST00000315033.4	37	c.129	CCDS772.1	1																																																																																			GPR88	-	prints_GPCR_Rhodpsn	ENSG00000181656		0.667	GPR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR88	HGNC	protein_coding	OTTHUMT00000030212.1	-	0.00	32	0	C	NM_022049		101004651	+1	tier1	-	no_errors	ENST00000315033	ensembl	human	known	74_37	silent	16.67	25	5	SNP	1.000	A
GPRASP1	9737	genome.wustl.edu	37	X	101909622	101909622	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:101909622C>G	ENST00000361600.5	+	5	1582	c.781C>G	c.(781-783)Ccc>Gcc	p.P261A	GPRASP1_ENST00000537097.1_Missense_Mutation_p.P261A|GPRASP1_ENST00000444152.1_Missense_Mutation_p.P261A|GPRASP1_ENST00000415986.1_Missense_Mutation_p.P261A|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	261					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGTTAAGACACCCTGGTTCTG	0.468																																																	0													123.0	124.0	123.0					X																	101909622		2203	4300	6503	SO:0001583	missense	0			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.781C>G	X.37:g.101909622C>G	ENSP00000355146:p.Pro261Ala		O43168|Q96LA1	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.P261A	ENST00000361600.5	37	c.781	CCDS35352.1	X	.	.	.	.	.	.	.	.	.	.	C	1.666	-0.510108	0.04231	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.08282	3.11;3.11;3.11;3.11	1.95	-2.54	0.06307	.	.	.	.	.	T	0.06508	0.0167	L	0.55481	1.735	0.09310	N	1	B	0.21753	0.06	B	0.25987	0.065	T	0.48364	-0.9042	9	0.07175	T	0.84	0.6619	4.2019	0.10471	0.0:0.4725:0.2119:0.3156	.	261	Q5JY77	GASP1_HUMAN	A	261	ENSP00000393691:P261A;ENSP00000409420:P261A;ENSP00000355146:P261A;ENSP00000445683:P261A	ENSP00000355146:P261A	P	+	1	0	GPRASP1	101796278	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	-0.175000	0.09825	-0.709000	0.05008	-0.757000	0.03467	CCC	GPRASP1	-	NULL	ENSG00000198932		0.468	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	-	0.00	38	0	C	NM_014710		101909622	+1	tier1	-	no_errors	ENST00000361600	ensembl	human	known	74_37	missense	41.86	25	18	SNP	0.000	G
GPT	2875	genome.wustl.edu	37	8	145730842	145730843	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:145730842_145730843delCT	ENST00000528431.1	+	6	866_867	c.709_710delCT	c.(709-711)ctcfs	p.L237fs	GPT_ENST00000394955.2_Frame_Shift_Del_p.L237fs			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	237					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	CCCTCGTGCGCTCTGTGTCATC	0.733																																																	0																																										SO:0001589	frameshift_variant	0				CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.709_710delCT	8.37:g.145730844_145730845delCT	ENSP00000433586:p.Leu237fs		B0YJ18|D3DWM7|P78398|Q93076	Frame_Shift_Del	DEL	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.V239fs	ENST00000528431.1	37	c.709_710	CCDS6430.1	8																																																																																			GPT	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000167701		0.733	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT	HGNC	protein_coding	OTTHUMT00000382471.1		0.00	13	0	CT			145730843	+1	tier1		no_errors	ENST00000394955	ensembl	human	known	74_37	frame_shift_del	25.00	12	4	DEL	0.996:0.997	-
GRAMD1A	57655	genome.wustl.edu	37	19	35512627	35512627	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:35512627C>G	ENST00000317991.5	+	15	1804	c.1612C>G	c.(1612-1614)Ctg>Gtg	p.L538V	CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.L625V|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.L531V|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.L304V	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	538						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAAGCTGTCTCTGGAGGAAGG	0.697																																																	0													37.0	42.0	41.0					19																	35512627		1911	4116	6027	SO:0001583	missense	0			AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.1612C>G	19.37:g.35512627C>G	ENSP00000441032:p.Leu538Val		A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.L538V	ENST00000317991.5	37	c.1612	CCDS42546.1	19	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392092	0.42410	.	.	ENSG00000089351	ENST00000453966;ENST00000504615;ENST00000317991;ENST00000411896	T;T;T	0.21543	2.0;2.0;2.0	4.52	3.48	0.39840	.	0.641330	0.13860	N	0.357722	T	0.20455	0.0492	L	0.31065	0.9	0.28880	N	0.894435	P;P;P;P	0.51933	0.949;0.915;0.949;0.949	P;B;P;P	0.50570	0.549;0.347;0.644;0.549	T	0.04467	-1.0949	10	0.29301	T	0.29	.	8.079	0.30733	0.0:0.8887:0.0:0.1113	.	538;538;304;531	Q96CP6-3;Q96CP6;B3KQF7;Q96CP6-2	.;GRM1A_HUMAN;.;.	V	624;304;538;531	ENSP00000423728:L304V;ENSP00000441032:L538V;ENSP00000439267:L531V	ENSP00000441032:L538V	L	+	1	2	GRAMD1A	40204467	0.879000	0.30193	0.995000	0.50966	0.437000	0.31866	1.546000	0.36179	1.128000	0.42052	0.491000	0.48974	CTG	GRAMD1A	-	NULL	ENSG00000089351		0.697	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	GRAMD1A	HGNC	protein_coding	OTTHUMT00000461557.1	-	0.00	53	0	C	NM_020895		35512627	+1	tier1	-	no_errors	ENST00000317991	ensembl	human	known	74_37	missense	37.14	22	13	SNP	1.000	G
GRID2IP	392862	genome.wustl.edu	37	7	6541699	6541699	+	Silent	SNP	A	A	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:6541699A>G	ENST00000457091.2	-	19	3200	c.3201T>C	c.(3199-3201)ctT>ctC	p.L1067L	GRID2IP_ENST00000452113.1_Silent_p.L876L|GRID2IP_ENST00000435185.1_Silent_p.L883L	NM_001145118.1	NP_001138590.1	A4D2P6	GRD2I_HUMAN	glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein	1067	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				long term synaptic depression (GO:0060292)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				endometrium(4)	4						GCGATTTGGCAAGGATGTGCA	0.582																																																	0													89.0	90.0	90.0					7																	6541699		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS47537.1	7p22	2007-10-05	2006-03-01		ENSG00000215045	ENSG00000215045			18464	protein-coding gene	gene with protein product		610639	"""glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1"""			14612983	Standard	NM_001145118		Approved		uc011jwx.2	A4D2P6	OTTHUMG00000155531	ENST00000457091.2:c.3201T>C	7.37:g.6541699A>G				Silent	SNP	pfam_FH2_Formin,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_FH2_Formin,pfscan_PDZ	p.L1067	ENST00000457091.2	37	c.3201	CCDS47537.1	7																																																																																			GRID2IP	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000215045		0.582	GRID2IP-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	GRID2IP	HGNC	protein_coding	OTTHUMT00000340534.1	-	0.00	45	0	A	XM_294249		6541699	-1	tier1	-	no_errors	ENST00000457091	ensembl	human	putative	74_37	silent	6.85	68	5	SNP	0.995	G
GRM1	2911	genome.wustl.edu	37	6	146755848	146755848	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:146755848C>T	ENST00000282753.1	+	8	3736	c.3501C>T	c.(3499-3501)tcC>tcT	p.S1167S	GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000361719.2_Silent_p.S1167S|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1167	Ser-rich.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCCCCGTGTCCGAGTCGGTGC	0.642																																																	0													40.0	42.0	41.0					6																	146755848		2200	4299	6499	SO:0001819	synonymous_variant	0			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3501C>T	6.37:g.146755848C>T			B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.S1167	ENST00000282753.1	37	c.3501	CCDS5209.1	6																																																																																			GRM1	-	pfam_Metabotropic_Glu_rcpt_Homer-bd,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3_mtglu_rcpt_5	ENSG00000152822		0.642	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	-	0.00	38	0	C	NM_000838		146755848	+1	tier1	-	no_errors	ENST00000282753	ensembl	human	known	74_37	silent	37.04	17	10	SNP	0.929	T
GRM7	2917	genome.wustl.edu	37	3	7735349	7735349	+	Intron	SNP	G	G	A	rs560934435		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:7735349G>A	ENST00000357716.4	+	9	2972				GRM7_ENST00000486284.1_Intron|GRM7_ENST00000389336.4_3'UTR	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7						adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CTGACCATCTGCACTGGCATC	0.433													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19248	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	0			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2698+13367G>A	3.37:g.7735349G>A			Q8NFS2|Q8NFS3|Q8NFS4	RNA	SNP	-	NULL	ENST00000357716.4	37	NULL	CCDS43042.1	3																																																																																			GRM7	-	-	ENSG00000196277		0.433	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM7	HGNC	protein_coding	OTTHUMT00000246895.3	-	0.00	29	0	G	NM_000844		7735349	+1	tier1	-	no_errors	ENST00000471242	ensembl	human	putative	74_37	rna	26.67	22	8	SNP	0.001	A
GUCY1A2	2977	genome.wustl.edu	37	11	106558447	106558447	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:106558447G>A	ENST00000526355.2	-	8	2495	c.2027C>T	c.(2026-2028)cCg>cTg	p.P676L	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P707L|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P697L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	676					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)	p.P676L(2)		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)	ACGAGACCGCGGAATGAATGT	0.418																																																	2	Substitution - Missense(2)	prostate(2)											95.0	98.0	97.0					11																	106558447		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.2027C>T	11.37:g.106558447G>A	ENSP00000431245:p.Pro676Leu		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.P707L	ENST00000526355.2	37	c.2120	CCDS8335.1	11	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375737	0.82682	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	T;T;T	0.80566	-1.39;-1.39;-1.39	5.52	5.52	0.82312	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.44902	U	0.000403	D	0.87807	0.6270	L	0.60845	1.875	0.80722	D	1	D;P;D	0.89917	1.0;0.867;1.0	D;B;D	0.97110	1.0;0.329;1.0	D	0.84572	0.0656	10	0.27785	T	0.31	.	18.7903	0.91971	0.0:0.0:1.0:0.0	.	697;707;676	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	L	676;707;697	ENSP00000431245:P676L;ENSP00000282249:P707L;ENSP00000344874:P697L	ENSP00000282249:P707L	P	-	2	0	GUCY1A2	106063657	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.340000	0.97038	2.762000	0.94881	0.467000	0.42956	CCG	GUCY1A2	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase	ENSG00000152402		0.418	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	GUCY1A2	HGNC	protein_coding	OTTHUMT00000389003.2	-	0.00	46	0	G			106558447	-1	tier1	-	no_errors	ENST00000282249	ensembl	human	known	74_37	missense	21.62	29	8	SNP	1.000	A
GUCY1A3	2982	genome.wustl.edu	37	4	156632138	156632138	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:156632138C>T	ENST00000296518.7	+	6	1030	c.821C>T	c.(820-822)tCg>tTg	p.S274L	GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S274L|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S274L|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S274L|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S274L|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S274L|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.S16L			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	274					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CCCCAGTCCTCGCTGGTGATT	0.458																																																	0													110.0	105.0	107.0					4																	156632138		2203	4300	6503	SO:0001583	missense	0				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.821C>T	4.37:g.156632138C>T	ENSP00000296518:p.Ser274Leu		D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.S274L	ENST00000296518.7	37	c.821	CCDS34085.1	4	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827491	0.71143	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38	5.76	5.76	0.90799	Haem NO binding associated (1);	0.104953	0.42964	D	0.000633	D	0.85898	0.5804	L	0.36672	1.1	0.40892	D	0.984083	P;P;P	0.48230	0.907;0.907;0.907	P;P;P	0.44561	0.453;0.453;0.453	D	0.86687	0.1920	10	0.49607	T	0.09	.	15.086	0.72155	0.1417:0.8583:0.0:0.0	.	274;274;274	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	L	274;274;274;274;16;274;274	ENSP00000424361:S274L;ENSP00000421493:S274L;ENSP00000426968:S274L;ENSP00000412201:S274L;ENSP00000377418:S16L;ENSP00000296518:S274L;ENSP00000426040:S274L	ENSP00000296518:S274L	S	+	2	0	GUCY1A3	156851588	0.983000	0.35010	0.994000	0.49952	0.965000	0.64279	1.740000	0.38228	2.876000	0.98609	0.643000	0.83706	TCG	GUCY1A3	-	pfam_Haem_no_assoc-bd	ENSG00000164116		0.458	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GUCY1A3	HGNC	protein_coding	OTTHUMT00000365786.2	-	0.00	43	0	C			156632138	+1	tier1	-	no_errors	ENST00000296518	ensembl	human	known	74_37	missense	34.78	30	16	SNP	0.864	T
HAND2-AS1	79804	genome.wustl.edu	37	4	174459693	174459693	+	RNA	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:174459693C>T	ENST00000504429.1	+	0	1498				HAND2-AS1_ENST00000503198.1_RNA|HAND2-AS1_ENST00000509640.1_RNA|HAND2-AS1_ENST00000503474.1_RNA|HAND2-AS1_ENST00000508887.1_RNA|HAND2-AS1_ENST00000512209.2_RNA|HAND2-AS1_ENST00000510221.1_RNA|HAND2-AS1_ENST00000502941.1_RNA|HAND2-AS1_ENST00000507322.1_RNA|HAND2-AS1_ENST00000504740.1_RNA|HAND2-AS1_ENST00000505817.1_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000512246.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000509866.1_RNA|HAND2-AS1_ENST00000514431.1_RNA|HAND2-AS1_ENST00000511728.1_RNA|HAND2-AS1_ENST00000514673.1_RNA|HAND2-AS1_ENST00000512943.1_RNA|HAND2-AS1_ENST00000505621.1_RNA|HAND2-AS1_ENST00000511196.1_RNA|HAND2-AS1_ENST00000507062.1_RNA|HAND2-AS1_ENST00000512929.1_RNA|HAND2-AS1_ENST00000515376.1_RNA|HAND2-AS1_ENST00000510339.1_RNA|HAND2-AS1_ENST00000502896.1_RNA|HAND2-AS1_ENST00000507571.1_RNA|HAND2-AS1_ENST00000515350.1_RNA|HAND2-AS1_ENST00000502334.1_RNA|HAND2-AS1_ENST00000510268.1_RNA|HAND2-AS1_ENST00000508534.1_RNA|HAND2-AS1_ENST00000507636.1_RNA|HAND2-AS1_ENST00000515741.1_RNA|HAND2-AS1_ENST00000515345.1_RNA					HAND2 antisense RNA 1 (head to head)																		ACCCTGGTGCCGGGCTAAGGC	0.577																																																	0																																												0					4q34.1	2013-07-16			ENSG00000237125	ENSG00000237125		"""Long non-coding RNAs"""	48872	non-coding RNA	RNA, long non-coding	"""neuroblastoma transcript 301"", ""differentially expressed in neuroblastoma"""					18171985, 19348682	Standard	NR_003679		Approved	DEIN, NBLA00301, FLJ11539			OTTHUMG00000160783		4.37:g.174459693C>T				RNA	SNP	-	NULL	ENST00000504429.1	37	NULL		4																																																																																			HAND2-AS1	-	-	ENSG00000237125		0.577	HAND2-AS1-029	KNOWN	basic|exp_conf	antisense	HAND2-AS1	HGNC	antisense	OTTHUMT00000364287.1	-	0.00	12	0	C			174459693	+1	tier1	-	no_errors	ENST00000502334	ensembl	human	known	74_37	rna	55.56	4	5	SNP	0.000	T
HDGFL1	154150	genome.wustl.edu	37	6	22570420	22570420	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:22570420G>A	ENST00000230012.3	+	1	743	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	HDGFL1_ENST00000510882.2_Missense_Mutation_p.A206T	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	206	Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					GAACGGCAGCGCCCCTAGCGA	0.746																																																	0													3.0	6.0	5.0					6																	22570420		1836	3821	5657	SO:0001583	missense	0			AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"""PWWP domain containing 1"""	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.616G>A	6.37:g.22570420G>A	ENSP00000230012:p.Ala206Thr		Q96MJ6	Missense_Mutation	SNP	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	p.A206T	ENST00000230012.3	37	c.616	CCDS34347.1	6	.	.	.	.	.	.	.	.	.	.	G	4.980	0.181971	0.09495	.	.	ENSG00000112273	ENST00000230012;ENST00000510882	T;T	0.32023	1.47;1.47	2.39	0.165	0.14995	.	2.866800	0.01865	N	0.036887	T	0.03348	0.0097	N	0.12182	0.205	0.09310	N	1	B	0.29301	0.241	B	0.17979	0.02	T	0.10382	-1.0632	10	0.05436	T	0.98	-10.1787	4.6392	0.12540	0.3949:0.0:0.6051:0.0	.	206	Q5TGJ6	HDGL1_HUMAN	T	206	ENSP00000230012:A206T;ENSP00000442129:A206T	ENSP00000230012:A206T	A	+	1	0	HDGFL1	22678399	0.000000	0.05858	0.011000	0.14972	0.057000	0.15508	-1.369000	0.02578	0.004000	0.14682	0.555000	0.69702	GCC	HDGFL1	-	NULL	ENSG00000112273		0.746	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDGFL1	HGNC	protein_coding	OTTHUMT00000043500.1	-	0.00	15	0	G	NM_138574		22570420	+1	tier1	-	no_errors	ENST00000230012	ensembl	human	known	74_37	missense	44.44	9	8	SNP	0.043	A
HELB	92797	genome.wustl.edu	37	12	66696520	66696520	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:66696520A>T	ENST00000247815.4	+	1	196	c.137A>T	c.(136-138)gAg>gTg	p.E46V		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	46					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GACGCCGAGGAGCTCTGCAGT	0.652																																																	0													47.0	41.0	43.0					12																	66696520		2203	4300	6503	SO:0001583	missense	0			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.137A>T	12.37:g.66696520A>T	ENSP00000247815:p.Glu46Val		A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.E46V	ENST00000247815.4	37	c.137	CCDS8976.1	12	.	.	.	.	.	.	.	.	.	.	A	21.7	4.191260	0.78902	.	.	ENSG00000127311	ENST00000247815	T	0.17213	2.29	5.71	5.71	0.89125	.	0.122741	0.52532	D	0.000073	T	0.38878	0.1057	M	0.65498	2.005	0.44295	D	0.997161	D	0.89917	1.0	D	0.83275	0.996	T	0.10019	-1.0648	9	.	.	.	-29.3007	12.3742	0.55271	1.0:0.0:0.0:0.0	.	46	Q8NG08	HELB_HUMAN	V	46	ENSP00000247815:E46V	.	E	+	2	0	HELB	64982787	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	4.188000	0.58351	2.185000	0.69588	0.459000	0.35465	GAG	HELB	-	NULL	ENSG00000127311		0.652	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELB	HGNC	protein_coding	OTTHUMT00000401919.1	-	0.00	36	0	A			66696520	+1	tier1	-	no_errors	ENST00000247815	ensembl	human	known	74_37	missense	20.00	24	6	SNP	1.000	T
HECTD4	283450	genome.wustl.edu	37	12	112704775	112704775	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:112704775T>A	ENST00000430131.2	-	13	2182	c.1037A>T	c.(1036-1038)aAt>aTt	p.N346I	HECTD4_ENST00000550722.1_Missense_Mutation_p.N634I|RN7SKP71_ENST00000364558.1_RNA|HECTD4_ENST00000377560.5_Missense_Mutation_p.N596I			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	346					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTACAAGATATTTAAACCAGA	0.274																																																	0													37.0	37.0	37.0					12																	112704775		2175	4240	6415	SO:0001583	missense	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.1037A>T	12.37:g.112704775T>A	ENSP00000404379:p.Asn346Ile		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.N596I	ENST00000430131.2	37	c.1787		12	.	.	.	.	.	.	.	.	.	.	T	11.96	1.794997	0.31777	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000550724	T;T;T	0.49139	0.79;0.79;0.79	6.03	4.84	0.62591	.	0.051894	0.85682	D	0.000000	T	0.37705	0.1013	N	0.14661	0.345	0.40088	D	0.976229	P;P;P	0.48016	0.904;0.622;0.904	B;B;P	0.45829	0.408;0.169;0.494	T	0.46317	-0.9200	10	0.87932	D	0	.	14.6523	0.68805	0.0:0.0:0.1286:0.8714	.	346;346;346	Q9Y4D8-2;Q9Y4D8;Q9Y4D8-3	.;K0614_HUMAN;.	I	596;346;634;24	ENSP00000366783:N596I;ENSP00000404379:N346I;ENSP00000449784:N634I	ENSP00000366783:N596I	N	-	2	0	C12orf51	111189158	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.196000	0.58407	2.302000	0.77476	0.533000	0.62120	AAT	HECTD4	-	NULL	ENSG00000173064		0.274	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		-	0.00	32	0	T	NM_173813		112704775	-1	tier1	-	no_errors	ENST00000377560	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	A
HERC2	8924	genome.wustl.edu	37	15	28493812	28493812	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:28493812C>G	ENST00000261609.7	-	21	3229	c.3121G>C	c.(3121-3123)Gag>Cag	p.E1041Q		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTGTGTTGCTCAAAGTCCAGA	0.388																																																	0													96.0	87.0	90.0					15																	28493812		2203	4300	6503	SO:0001583	missense	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3121G>C	15.37:g.28493812C>G	ENSP00000261609:p.Glu1041Gln			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.E1041Q	ENST00000261609.7	37	c.3121	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898527	0.52227	.	.	ENSG00000128731	ENST00000261609	T	0.39592	1.07	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.54159	0.1841	L	0.40543	1.245	0.80722	D	1	D	0.57899	0.981	D	0.67900	0.954	T	0.40590	-0.9555	10	0.18710	T	0.47	.	18.8404	0.92182	0.0:1.0:0.0:0.0	.	1041	O95714	HERC2_HUMAN	Q	1041	ENSP00000261609:E1041Q	ENSP00000261609:E1041Q	E	-	1	0	HERC2	26167407	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.432000	0.80349	2.524000	0.85096	0.467000	0.42956	GAG	HERC2	-	NULL	ENSG00000128731		0.388	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	-	0.00	42	0	C	NM_004667		28493812	-1	tier1	-	no_errors	ENST00000261609	ensembl	human	known	74_37	missense	15.79	48	9	SNP	1.000	G
HFM1	164045	genome.wustl.edu	37	1	91781372	91781372	+	Splice_Site	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:91781372G>A	ENST00000370425.3	-	28	3238	c.3140C>T	c.(3139-3141)aCg>aTg	p.T1047M	HFM1_ENST00000294696.5_Splice_Site_p.T279M|HFM1_ENST00000370424.3_Splice_Site_p.T726M|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1047	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.T1047M(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCACACTTACGTAATCTTGTG	0.313																																																	1	Substitution - Missense(1)	large_intestine(1)											66.0	64.0	64.0					1																	91781372		2201	4299	6500	SO:0001630	splice_region_variant	0			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3140+1C>T	1.37:g.91781372G>A			B1B0B6|Q8N9Q0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T1047M	ENST00000370425.3	37	c.3140	CCDS30769.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	5.133|5.133	0.210150|0.210150	0.09757|0.09757	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000430465|ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	.|T;T;T	.|0.62232	.|0.04;0.04;0.04	5.25|5.25	4.12|4.12	0.48240|0.48240	.|Sec63 domain (2);	.|0.765588	.|0.12875	.|N	.|0.431977	T|T	0.11281|0.11281	0.0275|0.0275	N|N	0.00855|0.00855	-1.145|-1.145	0.25714|0.25714	N|N	0.985443|0.985443	.|B;B;B	.|0.14012	.|0.009;0.0;0.005	.|B;B;B	.|0.09377	.|0.001;0.002;0.004	T|T	0.31971|0.31971	-0.9924|-0.9924	5|9	.|.	.|.	.|.	.|.	11.1879|11.1879	0.48669|0.48669	0.9269:0.0:0.0731:0.0|0.9269:0.0:0.0731:0.0	.|.	.|726;258;1047	.|A6NGI5;B1B0B5;A2PYH4	.|.;.;HFM1_HUMAN	W|M	259|1047;279;726;731	.|ENSP00000359454:T1047M;ENSP00000294696:T279M;ENSP00000359453:T726M	.|.	R|T	-|-	1|2	2|0	HFM1|HFM1	91553960|91553960	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.100000|0.100000	0.18952|0.18952	3.507000|3.507000	0.53371|0.53371	0.832000|0.832000	0.34804|0.34804	-0.606000|-0.606000	0.04082|0.04082	CGG|ACG	HFM1	-	pfam_Sec63-dom,smart_Sec63-dom	ENSG00000162669		0.313	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	-	0.00	41	0	G	NM_001017975	Missense_Mutation	91781372	-1	tier1	-	no_errors	ENST00000370425	ensembl	human	known	74_37	missense	41.18	20	14	SNP	1.000	A
HIST1H1C	3006	genome.wustl.edu	37	6	26056205	26056205	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:26056205G>T	ENST00000343677.2	-	1	494	c.452C>A	c.(451-453)gCt>gAt	p.A151D		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	151					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TGTTTTCTTAGCGCTCTTCTT	0.562																																																	0													73.0	86.0	82.0					6																	26056205		2202	4298	6500	SO:0001583	missense	0			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.452C>A	6.37:g.26056205G>T	ENSP00000339566:p.Ala151Asp		A8K4I2	Missense_Mutation	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.A151D	ENST00000343677.2	37	c.452	CCDS4577.1	6	.	.	.	.	.	.	.	.	.	.	G	7.082	0.570519	0.13560	.	.	ENSG00000187837	ENST00000343677	T	0.19250	2.16	5.47	2.22	0.28083	.	0.066851	0.56097	D	0.000024	T	0.03564	0.0102	N	0.14661	0.345	0.39833	D	0.97299	B	0.06786	0.001	B	0.06405	0.002	T	0.33650	-0.9860	10	0.18276	T	0.48	-7.9972	8.613	0.33815	0.329:0.0:0.671:0.0	.	151	P16403	H12_HUMAN	D	151	ENSP00000339566:A151D	ENSP00000339566:A151D	A	-	2	0	HIST1H1C	26164184	0.101000	0.21875	0.584000	0.28653	0.044000	0.14063	2.021000	0.41020	0.309000	0.22966	0.650000	0.86243	GCT	HIST1H1C	-	NULL	ENSG00000187837		0.562	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1C	HGNC	protein_coding	OTTHUMT00000043372.1		0.00	27	0	G	NM_005319		26056205	-1			no_errors	ENST00000343677	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.939	T
HIST1H1C	3006	genome.wustl.edu	37	6	26056594	26056594	+	Missense_Mutation	SNP	C	C	G	rs370362598		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:26056594C>G	ENST00000343677.2	-	1	105	c.63G>C	c.(61-63)aaG>aaC	p.K21N		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	21					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CCGCCTTCTTCTTTACAGGGG	0.607																																																	0													33.0	40.0	37.0					6																	26056594		2202	4298	6500	SO:0001583	missense	0			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.63G>C	6.37:g.26056594C>G	ENSP00000339566:p.Lys21Asn		A8K4I2	Missense_Mutation	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.K21N	ENST00000343677.2	37	c.63	CCDS4577.1	6	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181886	0.38511	.	.	ENSG00000187837	ENST00000343677	T	0.12774	2.65	5.73	3.93	0.45458	.	0.204891	0.40222	N	0.001152	T	0.09818	0.0241	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.25257	-1.0137	10	0.72032	D	0.01	-6.2303	12.1154	0.53861	0.0:0.8596:0.0:0.1404	.	21	P16403	H12_HUMAN	N	21	ENSP00000339566:K21N	ENSP00000339566:K21N	K	-	3	2	HIST1H1C	26164573	1.000000	0.71417	0.998000	0.56505	0.096000	0.18686	2.547000	0.45786	0.866000	0.35629	0.655000	0.94253	AAG	HIST1H1C	-	NULL	ENSG00000187837		0.607	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1C	HGNC	protein_coding	OTTHUMT00000043372.1	-	0.00	75	0	C	NM_005319		26056594	-1	tier1	-	no_errors	ENST00000343677	ensembl	human	known	74_37	missense	13.40	84	13	SNP	1.000	G
HKDC1	80201	genome.wustl.edu	37	10	71026453	71026453	+	Silent	SNP	A	A	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:71026453A>G	ENST00000354624.5	+	18	2827	c.2694A>G	c.(2692-2694)aaA>aaG	p.K898K	RP11-227H15.5_ENST00000413220.1_RNA	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	898	Hexokinase type-2 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)	p.K898K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GCAGTGGAAAAGGGGCAGCAC	0.478																																																	1	Substitution - coding silent(1)	kidney(1)											156.0	136.0	142.0					10																	71026453		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.2694A>G	10.37:g.71026453A>G			B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Silent	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.K898	ENST00000354624.5	37	c.2694	CCDS7288.1	10																																																																																			HKDC1	-	pfam_Hexokinase_C,prints_Hexokinase	ENSG00000156510		0.478	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HKDC1	HGNC	protein_coding	OTTHUMT00000048389.1		0.00	50	0	A	NM_025130		71026453	+1			no_errors	ENST00000354624	ensembl	human	known	74_37	silent	5.26	36	2	SNP	1.000	G
HMMR	3161	genome.wustl.edu	37	5	162917425	162917426	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:162917425_162917426insA	ENST00000358715.3	+	17	2025_2026	c.1989_1990insA	c.(1990-1992)aaafs	p.K664fs	HMMR_ENST00000353866.3_Frame_Shift_Ins_p.K649fs|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.K578fs|RP11-80G7.1_ENST00000521666.1_RNA|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.K665fs			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	664	Hyaluronic acid-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GTCAGCTTGCTAAAAAAAAACA	0.307																																																	0																																										SO:0001589	frameshift_variant	0			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1998dupA	5.37:g.162917434_162917434dupA	ENSP00000351554:p.Lys664fs		A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Frame_Shift_Ins	INS	NULL	p.Q667fs	ENST00000358715.3	37	c.1992_1993	CCDS4362.1	5																																																																																			HMMR	-	NULL	ENSG00000072571		0.307	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HMMR	HGNC	protein_coding	OTTHUMT00000252752.1		0.00	46	0	-	NM_012484		162917426	+1	tier1		no_errors	ENST00000393915	ensembl	human	known	74_37	frame_shift_ins	10.64	42	5	INS	0.976:1.000	A
HOOK1	51361	genome.wustl.edu	37	1	60328544	60328544	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:60328544G>C	ENST00000371208.3	+	16	1878	c.1621G>C	c.(1621-1623)Gaa>Caa	p.E541Q	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.E499Q	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	541	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GTCTGAAGGCGAAAGTGTAAG	0.368																																																	0													79.0	83.0	82.0					1																	60328544		2203	4300	6503	SO:0001583	missense	0			AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1621G>C	1.37:g.60328544G>C	ENSP00000360252:p.Glu541Gln		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	pfam_Hook-related_fam,superfamily_Prefoldin	p.E541Q	ENST00000371208.3	37	c.1621	CCDS612.1	1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529663	0.64860	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.33438	1.8;1.41	5.64	5.64	0.86602	.	0.060019	0.64402	D	0.000005	T	0.27027	0.0662	L	0.28274	0.84	0.44643	D	0.997626	D	0.54397	0.966	B	0.43575	0.424	T	0.01397	-1.1365	10	0.21540	T	0.41	.	20.0534	0.97636	0.0:0.0:1.0:0.0	.	541	Q9UJC3	HOOK1_HUMAN	Q	541;499	ENSP00000360252:E541Q;ENSP00000378928:E499Q	ENSP00000360252:E541Q	E	+	1	0	HOOK1	60101132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.564000	0.90726	2.807000	0.96579	0.650000	0.86243	GAA	HOOK1	-	pfam_Hook-related_fam	ENSG00000134709		0.368	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK1	HGNC	protein_coding	OTTHUMT00000024934.1		0.00	37	0	G	NM_015888		60328544	+1			no_errors	ENST00000371208	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	C
HPS3	84343	genome.wustl.edu	37	3	148876470	148876470	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:148876470C>T	ENST00000296051.2	+	10	1849	c.1709C>T	c.(1708-1710)tCt>tTt	p.S570F	HPS3_ENST00000460120.1_Missense_Mutation_p.S405F	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	570					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCCCAGCATTCTCATCTCACC	0.438									Hermansky-Pudlak syndrome																																								0													125.0	130.0	129.0					3																	148876470		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1709C>T	3.37:g.148876470C>T	ENSP00000296051:p.Ser570Phe		A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	pirsf_HPS3	p.S570F	ENST00000296051.2	37	c.1709	CCDS3140.1	3	.	.	.	.	.	.	.	.	.	.	C	6.461	0.453226	0.12283	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.64085	-0.08;-0.08	5.4	5.4	0.78164	.	0.272597	0.43919	D	0.000520	T	0.53190	0.1781	M	0.62723	1.935	0.25237	N	0.989782	B;B	0.19445	0.036;0.004	B;B	0.19666	0.026;0.017	T	0.43065	-0.9414	10	0.07990	T	0.79	-4.3683	9.3625	0.38203	0.1547:0.7691:0.0:0.0762	.	405;570	G5E9V4;Q969F9	.;HPS3_HUMAN	F	570;405	ENSP00000296051:S570F;ENSP00000418230:S405F	ENSP00000296051:S570F	S	+	2	0	HPS3	150359160	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.339000	0.33885	2.719000	0.93026	0.650000	0.86243	TCT	HPS3	-	pirsf_HPS3	ENSG00000163755		0.438	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS3	HGNC	protein_coding	OTTHUMT00000356151.1	-	0.00	59	0	C	NM_032383		148876470	+1	tier1	-	no_errors	ENST00000296051	ensembl	human	known	74_37	missense	29.82	40	17	SNP	1.000	T
HPSE2	60495	genome.wustl.edu	37	10	100992245	100992245	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:100992245G>T	ENST00000370552.3	-	2	367	c.308C>A	c.(307-309)aCc>aAc	p.T103N	HPSE2_ENST00000370549.1_Missense_Mutation_p.T103N|HPSE2_ENST00000370546.1_Missense_Mutation_p.T103N|HPSE2_ENST00000404542.1_Missense_Mutation_p.T103N	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	103					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CCGGGCCAGGGTCACCAAGCG	0.627																																																	0													9.0	9.0	9.0					10																	100992245		2154	4209	6363	SO:0001583	missense	0			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.308C>A	10.37:g.100992245G>T	ENSP00000359583:p.Thr103Asn		Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	p.T103N	ENST00000370552.3	37	c.308	CCDS7477.1	10	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487497	0.63962	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.27	5.27	0.74061	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.46833	0.1413	L	0.43923	1.385	0.38949	D	0.958303	D;P;P;P	0.76494	0.999;0.95;0.873;0.856	D;P;B;B	0.80764	0.994;0.648;0.295;0.353	T	0.26395	-1.0104	10	0.15066	T	0.55	-5.8025	18.4822	0.90817	0.0:0.0:1.0:0.0	.	103;103;103;103	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	N	103	ENSP00000359583:T103N;ENSP00000359580:T103N;ENSP00000359577:T103N;ENSP00000384384:T103N	ENSP00000359577:T103N	T	-	2	0	HPSE2	100982235	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	8.571000	0.90752	2.470000	0.83445	0.655000	0.94253	ACC	HPSE2	-	superfamily_Glycoside_hydrolase_SF	ENSG00000172987		0.627	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HPSE2	HGNC	protein_coding	OTTHUMT00000049789.1	-	0.00	185	0	G	NM_021828		100992245	-1	tier1	-	no_errors	ENST00000370552	ensembl	human	known	74_37	missense	31.03	80	36	SNP	1.000	T
HTR1A	3350	genome.wustl.edu	37	5	63256866	63256866	+	Silent	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:63256866G>A	ENST00000323865.3	-	1	914	c.681C>T	c.(679-681)cgC>cgT	p.R227R	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	227					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGACCGTCTTGCGGATGCGGA	0.582																																																	0													68.0	76.0	73.0					5																	63256866		2203	4299	6502	SO:0001819	synonymous_variant	0			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.681C>T	5.37:g.63256866G>A			Q6LAE7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt	p.R227	ENST00000323865.3	37	c.681	CCDS34168.1	5																																																																																			HTR1A	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt	ENSG00000178394		0.582	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1A	HGNC	protein_coding	OTTHUMT00000368397.1		0.00	27	0	G	NM_000524		63256866	-1			no_errors	ENST00000323865	ensembl	human	known	74_37	silent	28.57	15	6	SNP	1.000	A
HSD17B4	3295	genome.wustl.edu	37	5	118824941	118824941	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:118824941G>A	ENST00000256216.6	+	9	810	c.677G>A	c.(676-678)tGt>tAt	p.C226Y	HSD17B4_ENST00000414835.2_Missense_Mutation_p.C86Y|HSD17B4_ENST00000510025.1_Missense_Mutation_p.C202Y|HSD17B4_ENST00000504811.1_Missense_Mutation_p.C251Y|HSD17B4_ENST00000515320.1_Missense_Mutation_p.C208Y|HSD17B4_ENST00000513628.1_Missense_Mutation_p.C89Y|HSD17B4_ENST00000509514.1_5'UTR	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	226	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		CTTTGGCTTTGTCACGAGAGT	0.378																																					Colon(35;490 801 34689 41394 43344)												0													222.0	215.0	218.0					5																	118824941		2202	4300	6502	SO:0001583	missense	0				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.677G>A	5.37:g.118824941G>A	ENSP00000256216:p.Cys226Tyr		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	pfam_MaoC_dom,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.C226Y	ENST00000256216.6	37	c.677	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906273	0.72868	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628	D;D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53;-2.53	5.97	5.97	0.96955	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96670	0.8913	H	0.96777	3.88	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.997;1.0	D;D;P;D	0.69142	0.962;0.927;0.905;0.927	D	0.97309	0.9936	10	0.87932	D	0	-14.3036	20.0189	0.97489	0.0:0.0:1.0:0.0	.	251;208;202;226	F5HE57;E9PB82;E7EWE5;P51659	.;.;.;DHB4_HUMAN	Y	226;208;202;251;86;89	ENSP00000256216:C226Y;ENSP00000424613:C208Y;ENSP00000424940:C202Y;ENSP00000420914:C251Y;ENSP00000411960:C86Y;ENSP00000425993:C89Y	ENSP00000256216:C226Y	C	+	2	0	HSD17B4	118852840	1.000000	0.71417	1.000000	0.80357	0.367000	0.29736	9.643000	0.98464	2.834000	0.97654	0.650000	0.86243	TGT	HSD17B4	-	prints_Glc/ribitol_DH	ENSG00000133835		0.378	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3	-	0.00	90	0	G	NM_000414		118824941	+1	tier1	-	no_errors	ENST00000256216	ensembl	human	known	74_37	missense	16.67	50	10	SNP	1.000	A
HRH2	3274	genome.wustl.edu	37	5	175111043	175111043	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:175111043A>C	ENST00000231683.2	+	1	2580	c.807A>C	c.(805-807)ttA>ttC	p.L269F	HRH2_ENST00000377291.2_Missense_Mutation_p.L269F	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	269					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	ATGAGGTGTTAGAAGCCATCG	0.572																																																	0													133.0	106.0	115.0					5																	175111043		2203	4300	6503	SO:0001583	missense	0				CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.807A>C	5.37:g.175111043A>C	ENSP00000231683:p.Leu269Phe		B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt,prints_GPCR_Rhodpsn,prints_5HT6_rcpt	p.L269F	ENST00000231683.2	37	c.807	CCDS4395.1	5	.	.	.	.	.	.	.	.	.	.	A	3.043	-0.197028	0.06259	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.39229	1.09;1.09	5.06	-10.1	0.00402	GPCR, rhodopsin-like superfamily (1);	1.268340	0.05100	N	0.486916	T	0.29028	0.0721	L	0.43152	1.355	0.09310	N	1	B;B	0.15141	0.003;0.012	B;B	0.23852	0.049;0.049	T	0.13335	-1.0513	10	0.29301	T	0.29	.	6.7715	0.23596	0.0841:0.4842:0.2445:0.1871	.	269;269	P25021;Q7Z5R9	HRH2_HUMAN;.	F	269	ENSP00000366506:L269F;ENSP00000231683:L269F	ENSP00000231683:L269F	L	+	3	2	HRH2	175043649	0.000000	0.05858	0.000000	0.03702	0.215000	0.24574	-2.310000	0.01129	-3.274000	0.00199	-0.542000	0.04241	TTA	HRH2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt	ENSG00000113749		0.572	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH2	HGNC	protein_coding	OTTHUMT00000253151.1	-	0.00	36	0	A			175111043	+1	tier1	-	no_errors	ENST00000377291	ensembl	human	known	74_37	missense	33.33	18	9	SNP	0.000	C
HUWE1	10075	genome.wustl.edu	37	X	53562355	53562355	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:53562355C>T	ENST00000342160.3	-	80	13096	c.12639G>A	c.(12637-12639)atG>atA	p.M4213I	HUWE1_ENST00000262854.6_Missense_Mutation_p.M4213I			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4213	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGTCATTCTCATCTGGCATA	0.438																																																	0													233.0	173.0	194.0					X																	53562355		2203	4300	6503	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12639G>A	X.37:g.53562355C>T	ENSP00000340648:p.Met4213Ile		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.M4213I	ENST00000342160.3	37	c.12639	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.20|16.20	3.056942|3.056942	0.55325|0.55325	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|T;T	.|0.56941	.|0.43;0.43	5.39|5.39	5.39|5.39	0.77823|0.77823	.|HECT (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72244|0.72244	0.3436|0.3436	M|M	0.80746|0.80746	2.51|2.51	0.80722|0.80722	D|D	1|1	.|B;B	.|0.28820	.|0.224;0.187	.|P;P	.|0.51055	.|0.657;0.526	T|T	0.68481|0.68481	-0.5397|-0.5397	5|10	.|0.26408	.|T	.|0.33	.|.	17.1547|17.1547	0.86788|0.86788	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4213;4197	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	K|I	3247;1036|4213	.|ENSP00000340648:M4213I;ENSP00000262854:M4213I	.|ENSP00000262854:M4213I	E|M	-|-	1|3	0|0	HUWE1|HUWE1	53579080|53579080	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.295000|7.295000	0.78780|0.78780	2.403000|2.403000	0.81681|0.81681	0.600000|0.600000	0.82982|0.82982	GAG|ATG	HUWE1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000086758		0.438	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0.00	41	0	C	XM_497119		53562355	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	82.22	8	37	SNP	1.000	T
ICAM5	7087	genome.wustl.edu	37	19	10400795	10400795	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:10400795C>T	ENST00000221980.4	+	1	139	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM5_ENST00000586004.1_3'UTR	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	26					phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCTCTTCGGCCTCTCAGGTAA	0.721																																																	0													6.0	7.0	7.0					19																	10400795		1883	3602	5485	SO:0001583	missense	0			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.76C>T	19.37:g.10400795C>T	ENSP00000221980:p.Leu26Phe		Q9Y6F3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM	p.L26F	ENST00000221980.4	37	c.76	CCDS12233.1	19	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252796	0.39797	.	.	ENSG00000105376	ENST00000221980	T	0.41758	0.99	4.09	1.87	0.25490	.	1.295080	0.05064	N	0.480408	T	0.28797	0.0714	L	0.27053	0.805	0.22639	N	0.998902	P	0.50443	0.935	B	0.41764	0.366	T	0.14531	-1.0469	10	0.21540	T	0.41	-6.331	4.5069	0.11893	0.228:0.6541:0.0:0.1179	.	26	Q9UMF0	ICAM5_HUMAN	F	26	ENSP00000221980:L26F	ENSP00000221980:L26F	L	+	1	0	ICAM5	10261795	0.204000	0.23447	0.805000	0.32314	0.816000	0.46133	0.361000	0.20267	0.341000	0.23771	0.442000	0.29010	CTC	ICAM5	-	pfam_ICAM_N	ENSG00000105376		0.721	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM5	HGNC	protein_coding	OTTHUMT00000451217.1	-	0.00	19	0	C	NM_003259		10400795	+1	tier1	-	no_errors	ENST00000221980	ensembl	human	known	74_37	missense	37.50	10	6	SNP	0.627	T
ICAM3	3385	genome.wustl.edu	37	19	10445426	10445426	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:10445426G>A	ENST00000160262.5	-	5	1178	c.970C>T	c.(970-972)Ccc>Tcc	p.P324S	RAVER1_ENST00000293677.6_5'Flank|ICAM3_ENST00000589261.1_Missense_Mutation_p.P247S	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	324					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			TGGGCGGTGGGCTCGCTGAGG	0.657																																																	0													35.0	39.0	38.0					19																	10445426		2203	4300	6503	SO:0001583	missense	0				CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.970C>T	19.37:g.10445426G>A	ENSP00000160262:p.Pro324Ser		Q6PD68	Missense_Mutation	SNP	pfam_ICAM_N,smart_Ig_sub,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM	p.P324S	ENST00000160262.5	37	c.970	CCDS12235.1	19	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541648	0.45280	.	.	ENSG00000076662	ENST00000160262	T	0.11169	2.8	5.14	-10.3	0.00346	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.956652	0.08606	N	0.920690	T	0.05914	0.0154	L	0.41124	1.26	0.09310	N	1	B	0.31100	0.308	B	0.29785	0.107	T	0.12426	-1.0548	10	0.49607	T	0.09	-2.0873	2.4918	0.04612	0.2708:0.4081:0.1774:0.1437	.	324	P32942	ICAM3_HUMAN	S	324	ENSP00000160262:P324S	ENSP00000160262:P324S	P	-	1	0	ICAM3	10306426	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	-0.270000	0.08584	-2.671000	0.00414	-0.379000	0.06801	CCC	ICAM3	-	smart_Ig_sub	ENSG00000076662		0.657	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM3	HGNC	protein_coding	OTTHUMT00000451234.1	-	0.00	33	0	G			10445426	-1	tier1	-	no_errors	ENST00000160262	ensembl	human	known	74_37	missense	15.38	21	4	SNP	0.000	A
IFT43	112752	genome.wustl.edu	37	14	76525022	76525022	+	Intron	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr14:76525022G>A	ENST00000314067.6	+	4	282				IFT43_ENST00000238628.6_Intron|IFT43_ENST00000556742.1_Missense_Mutation_p.V85I	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43						cilium morphogenesis (GO:0060271)|intraciliary retrograde transport (GO:0035721)	cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						AGAAGAGTACGTTTCCAGTAT	0.393																																																	0													226.0	203.0	210.0					14																	76525022		1840	4098	5938	SO:0001627	intron_variant	0			BC010436	CCDS9847.1, CCDS41973.1, CCDS58330.1	14q24.3	2014-07-03	2014-07-03	2011-06-09				"""Intraflagellar transport homologs"""	29669	protein-coding gene	gene with protein product		614068	"""chromosome 14 open reading frame 179"", ""intraflagellar transport 43 homolog (Chlamydomonas)"""	C14orf179		21378380	Standard	NM_052873		Approved	FLJ32173, MGC16028	uc010asm.1	Q96FT9		ENST00000314067.6:c.248+5G>A	14.37:g.76525022G>A			B3KPT6|B4DZI9|G3V385|O95418|Q9ULA9	Missense_Mutation	SNP	NULL	p.V85I	ENST00000314067.6	37	c.253	CCDS41973.1	14	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506191	0.64410	.	.	ENSG00000119650	ENST00000556742	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	T	0.77294	0.4109	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.78674	-0.2112	6	.	.	.	.	14.2581	0.66065	0.0:0.0:1.0:0.0	.	85	G3V385	.	I	85	.	.	V	+	1	0	IFT43	75594775	1.000000	0.71417	0.351000	0.25721	0.416000	0.31233	5.307000	0.65762	2.273000	0.75805	0.557000	0.71058	GTT	IFT43	-	NULL	ENSG00000119650		0.393	IFT43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT43	HGNC	protein_coding		-	0.00	37	0	G	NM_052873		76525022	+1	tier1	-	no_errors	ENST00000556742	ensembl	human	novel	74_37	missense	15.15	28	5	SNP	0.720	A
IFT74	80173	genome.wustl.edu	37	9	26984298	26984298	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:26984298delA	ENST00000443698.1	+	5	520	c.349delA	c.(349-351)aagfs	p.K117fs	IFT74_ENST00000429045.2_Frame_Shift_Del_p.K117fs|IFT74_ENST00000380062.5_Frame_Shift_Del_p.K117fs|IFT74_ENST00000433700.1_Frame_Shift_Del_p.K117fs	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	117					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TAAACTTCAGAAGGGAATAGA	0.269																																																	0													37.0	39.0	38.0					9																	26984298		1786	4020	5806	SO:0001589	frameshift_variant	0			AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"""Intraflagellar transport homologs"""	21424	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 1"""	608040	"""coiled-coil domain containing 2"", ""intraflagellar transport 74 homolog (Chlamydomonas)"""	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.349delA	9.37:g.26984298delA	ENSP00000404122:p.Lys117fs		Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Frame_Shift_Del	DEL	NULL	p.K117fs	ENST00000443698.1	37	c.349	CCDS43793.1	9																																																																																			IFT74	-	NULL	ENSG00000096872		0.269	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT74	HGNC	protein_coding	OTTHUMT00000055476.2		0.00	54	0	A	NM_025103		26984298	+1	tier1		no_errors	ENST00000380062	ensembl	human	known	74_37	frame_shift_del	13.33	13	2	DEL	1.000	-
IL5RA	3568	genome.wustl.edu	37	3	3137074	3137074	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:3137074G>T	ENST00000446632.2	-	8	1338	c.764C>A	c.(763-765)tCt>tAt	p.S255Y	IL5RA_ENST00000456302.1_Missense_Mutation_p.S255Y|IL5RA_ENST00000430514.2_Missense_Mutation_p.S255Y|IL5RA_ENST00000311981.8_Missense_Mutation_p.S255Y|IL5RA_ENST00000418488.2_Intron|IL5RA_ENST00000438560.1_Missense_Mutation_p.S255Y|IL5RA_ENST00000383846.1_Missense_Mutation_p.S255Y|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000256452.3_Missense_Mutation_p.S255Y	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	255	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CCATTGGATAGAGAGACGAGT	0.353																																					GBM(169;430 2801 24955 28528)												0													102.0	100.0	100.0					3																	3137074		2203	4300	6503	SO:0001583	missense	0			M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.764C>A	3.37:g.3137074G>T	ENSP00000412209:p.Ser255Tyr		B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.S255Y	ENST00000446632.2	37	c.764	CCDS2559.1	3	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.593624	0.00864	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302	D;D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	5.0	-3.65	0.04502	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.980516	0.08360	N	0.957829	T	0.66694	0.2815	L	0.33245	0.995	0.09310	N	1	B;B;B;B	0.09022	0.002;0.001;0.001;0.0	B;B;B;B	0.06405	0.002;0.002;0.002;0.001	T	0.56117	-0.8032	10	0.02654	T	1	-4.411	0.6665	0.00851	0.2819:0.1096:0.26:0.3484	.	255;255;255;255	B4E2G0;Q01344-3;Q01344-2;Q01344	.;.;.;IL5RA_HUMAN	Y	255	ENSP00000412209:S255Y;ENSP00000390753:S255Y;ENSP00000256452:S255Y;ENSP00000373358:S255Y;ENSP00000309196:S255Y;ENSP00000400400:S255Y;ENSP00000392059:S255Y	ENSP00000256452:S255Y	S	-	2	0	IL5RA	3112074	0.002000	0.14202	0.001000	0.08648	0.693000	0.40251	0.183000	0.16919	-0.430000	0.07318	-0.137000	0.14449	TCT	IL5RA	-	superfamily_Fibronectin_type3	ENSG00000091181		0.353	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL5RA	HGNC	protein_coding	OTTHUMT00000337537.2	-	0.00	55	0	G			3137074	-1	tier1	-	no_errors	ENST00000256452	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.000	T
IMMP2L	83943	genome.wustl.edu	37	7	110303712	110303712	+	Silent	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:110303712T>C	ENST00000405709.2	-	6	916	c.474A>G	c.(472-474)aaA>aaG	p.K158K	IMMP2L_ENST00000331762.3_Silent_p.K158K|IMMP2L_ENST00000415362.1_Silent_p.K158K|IMMP2L_ENST00000452895.1_Silent_p.K158K|IMMP2L_ENST00000450877.1_Silent_p.K140K|IMMP2L_ENST00000489381.1_5'UTR	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	158					ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|protein processing involved in protein targeting to mitochondrion (GO:0006627)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial inner membrane peptidase complex (GO:0042720)	peptidase activity (GO:0008233)|serine-type peptidase activity (GO:0008236)			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		CAGATTCCAATTTCTGCCAGC	0.483																																																	0													76.0	76.0	76.0					7																	110303712		2203	4300	6503	SO:0001819	synonymous_variant	0			AF359563	CCDS5753.1	7q31	2014-01-06	2005-08-17		ENSG00000184903	ENSG00000184903			14598	protein-coding gene	gene with protein product		605977	"""IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)"", ""IMMP2L intronic transcript 1 (non-protein coding)"""	IMMP2L-IT1		11254443	Standard	NM_032549		Approved	IMP2	uc010ljr.2	Q96T52	OTTHUMG00000155023	ENST00000405709.2:c.474A>G	7.37:g.110303712T>C			Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	Silent	SNP	pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1	p.K158	ENST00000405709.2	37	c.474	CCDS5753.1	7																																																																																			IMMP2L	-	superfamily_Peptidase_S24_S26A/B/C	ENSG00000184903		0.483	IMMP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMMP2L	HGNC	protein_coding	OTTHUMT00000338109.4	-	0.00	39	0	T	NM_032549		110303712	-1	tier1	-	no_errors	ENST00000331762	ensembl	human	known	74_37	silent	23.68	29	9	SNP	0.040	C
INSR	3643	genome.wustl.edu	37	19	7125392	7125392	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:7125392C>T	ENST00000302850.5	-	17	3302	c.3160G>A	c.(3160-3162)Gtg>Atg	p.V1054M	INSR_ENST00000341500.5_Missense_Mutation_p.V1042M	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1054	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TTCACCGCCACGCGGGTCTCT	0.592																																																	0													151.0	116.0	128.0					19																	7125392		2203	4300	6503	SO:0001583	missense	0			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3160G>A	19.37:g.7125392C>T	ENSP00000303830:p.Val1054Met		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.V1054M	ENST00000302850.5	37	c.3160	CCDS12176.1	19	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378025	0.82682	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.89939	-2.59;-2.59	5.06	5.06	0.68205	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.41500	D	0.000879	D	0.95840	0.8646	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.96667	0.9493	10	0.87932	D	0	.	15.9578	0.79898	0.0:1.0:0.0:0.0	.	1042;1054	P06213-2;P06213	.;INSR_HUMAN	M	1054;1042	ENSP00000303830:V1054M;ENSP00000342838:V1042M	ENSP00000303830:V1054M	V	-	1	0	INSR	7076392	1.000000	0.71417	0.957000	0.39632	0.733000	0.41908	7.320000	0.79064	2.638000	0.89438	0.655000	0.94253	GTG	INSR	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000171105		0.592	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1	-	0.00	32	0	C			7125392	-1	tier1	-	no_errors	ENST00000302850	ensembl	human	known	74_37	missense	44.44	10	8	SNP	0.999	T
IRF5	3663	genome.wustl.edu	37	7	128582203	128582203	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:128582203C>T	ENST00000402030.2	+	2	140	c.68C>T	c.(67-69)gCc>gTc	p.A23V	IRF5_ENST00000249375.4_Missense_Mutation_p.A23V|IRF5_ENST00000477535.1_Missense_Mutation_p.A23V|IRF5_ENST00000357234.5_Missense_Mutation_p.A23V|IRF5_ENST00000473745.1_Missense_Mutation_p.A23V	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	23					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						TGGCTGGTGGCCCAGGTGAAC	0.627																																																	0													35.0	41.0	39.0					7																	128582203		2203	4300	6503	SO:0001583	missense	0				CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.68C>T	7.37:g.128582203C>T	ENSP00000385352:p.Ala23Val		A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.A23V	ENST00000402030.2	37	c.68	CCDS5808.1	7	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021647	0.93462	.	.	ENSG00000128604	ENST00000489702;ENST00000357234;ENST00000477535;ENST00000430204;ENST00000479582;ENST00000464557;ENST00000402030;ENST00000249375;ENST00000453794;ENST00000467002;ENST00000473745;ENST00000412326	D;D;D;D;D;D;D;D;D	0.97906	-4.6;-4.6;-4.6;-4.6;-4.6;-4.6;-4.6;-4.6;-4.6	5.42	4.53	0.55603	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.56097	D	0.000029	D	0.98479	0.9493	M	0.82517	2.595	0.58432	D	0.999997	D;D;D;D;D;D;B;D	0.76494	0.997;0.986;0.997;0.999;0.999;0.986;0.235;0.999	D;D;D;D;D;D;B;D	0.81914	0.977;0.909;0.961;0.991;0.983;0.909;0.166;0.995	D	0.98395	1.0565	10	0.56958	D	0.05	-5.1845	12.4223	0.55527	0.0:0.9156:0.0:0.0844	.	23;23;23;23;23;23;23;23	B4DLN8;B7Z1M2;F5H3H8;E7EW54;E9PC81;Q1A7B4;Q13568;Q13568-2	.;.;.;.;.;.;IRF5_HUMAN;.	V	23	ENSP00000418037:A23V;ENSP00000349770:A23V;ENSP00000419950:A23V;ENSP00000417770:A23V;ENSP00000419056:A23V;ENSP00000385352:A23V;ENSP00000249375:A23V;ENSP00000417454:A23V;ENSP00000419149:A23V	ENSP00000249375:A23V	A	+	2	0	IRF5	128369439	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.741000	0.68638	2.543000	0.85770	0.561000	0.74099	GCC	IRF5	-	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	ENSG00000128604		0.627	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF5	HGNC	protein_coding	OTTHUMT00000350934.1	-	0.00	18	0	C	NM_001098627		128582203	+1	tier1	-	no_errors	ENST00000357234	ensembl	human	known	74_37	missense	36.00	16	9	SNP	1.000	T
ITGA7	3679	genome.wustl.edu	37	12	56086693	56086693	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:56086693G>A	ENST00000555728.1	-	22	2939	c.2911C>T	c.(2911-2913)Cgg>Tgg	p.R971W	ITGA7_ENST00000257880.7_Missense_Mutation_p.R971W|ITGA7_ENST00000553804.1_Missense_Mutation_p.R931W|ITGA7_ENST00000347027.6_Missense_Mutation_p.R921W|ITGA7_ENST00000394230.2_Missense_Mutation_p.R931W|ITGA7_ENST00000452168.2_Missense_Mutation_p.R834W|ITGA7_ENST00000257879.6_Missense_Mutation_p.R927W|ITGA7_ENST00000394229.2_Missense_Mutation_p.R927W			Q13683	ITA7_HUMAN	integrin, alpha 7	971					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGCTCCTGCCGCTCACCAGGC	0.627																																																	0													41.0	39.0	40.0					12																	56086693		2203	4300	6503	SO:0001583	missense	0				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2911C>T	12.37:g.56086693G>A	ENSP00000452387:p.Arg971Trp		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.R971W	ENST00000555728.1	37	c.2911		12	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288934	0.40494	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	4.85	2.95	0.34219	Integrin alpha-2 (1);	1.157270	0.06229	N	0.688347	T	0.49115	0.1538	L	0.32530	0.975	0.21105	N	0.99978	D;P;P;P	0.59357	0.985;0.754;0.71;0.917	P;P;B;P	0.54815	0.761;0.533;0.398;0.72	T	0.38607	-0.9653	10	0.87932	D	0	.	5.237	0.15452	0.1036:0.0:0.683:0.2135	.	834;971;931;990	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	W	931;927;921;834;971;931;927;800;971	ENSP00000452120:R931W;ENSP00000257879:R927W;ENSP00000343009:R921W;ENSP00000393844:R834W;ENSP00000257880:R971W;ENSP00000377777:R931W;ENSP00000377776:R927W;ENSP00000452387:R971W	ENSP00000257879:R927W	R	-	1	2	ITGA7	54372960	0.996000	0.38824	0.540000	0.28089	0.255000	0.26057	2.564000	0.45931	1.363000	0.46019	0.585000	0.79938	CGG	ITGA7	-	pfam_Integrin_alpha-2	ENSG00000135424		0.627	ITGA7-014	KNOWN	basic	protein_coding	ITGA7	HGNC	protein_coding	OTTHUMT00000410138.1	-	0.00	38	0	G	NM_002206		56086693	-1	tier1	-	no_errors	ENST00000555728	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.475	A
ITK	3702	genome.wustl.edu	37	5	156649893	156649893	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:156649893A>C	ENST00000422843.3	+	6	668	c.516A>C	c.(514-516)gaA>gaC	p.E172D	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	172	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.			PE -> GS (in Ref. 6; AA sequence). {ECO:0000305}.	activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	GGGAACCTGAAGAAACTGTGG	0.488			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)			Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0													92.0	88.0	89.0					5																	156649893		2203	4300	6503	SO:0001583	missense	0			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.516A>C	5.37:g.156649893A>C	ENSP00000398655:p.Glu172Asp		B2R752|Q32ML7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.E172D	ENST00000422843.3	37	c.516	CCDS4336.1	5	.	.	.	.	.	.	.	.	.	.	A	12.04	1.819595	0.32145	.	.	ENSG00000113263	ENST00000521769;ENST00000422843	D;T	0.90261	-2.64;-0.99	5.81	2.01	0.26516	Src homology-3 domain (1);	0.481200	0.23234	N	0.050424	D	0.82277	0.5002	L	0.39566	1.225	0.43076	D	0.994721	B	0.06786	0.001	B	0.06405	0.002	T	0.68708	-0.5337	10	0.28530	T	0.3	.	3.6473	0.08189	0.6467:0.0:0.1949:0.1584	.	172	Q08881	ITK_HUMAN	D	47;172	ENSP00000430327:E47D;ENSP00000398655:E172D	ENSP00000398655:E172D	E	+	3	2	ITK	156582471	0.972000	0.33761	0.892000	0.35008	0.462000	0.32619	-0.002000	0.12924	0.100000	0.17581	0.482000	0.46254	GAA	ITK	-	pfscan_SH3_domain	ENSG00000113263		0.488	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITK	HGNC	protein_coding	OTTHUMT00000252569.2	-	0.00	46	0	A			156649893	+1	tier1	-	no_errors	ENST00000422843	ensembl	human	known	74_37	missense	32.00	17	8	SNP	0.999	C
ITPR1	3708	genome.wustl.edu	37	3	4744601	4744601	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:4744601G>A	ENST00000443694.2	+	33	4579	c.4579G>A	c.(4579-4581)Gtg>Atg	p.V1527M	ITPR1_ENST00000423119.2_Missense_Mutation_p.V1533M|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.V1542M|ITPR1_ENST00000302640.8_Missense_Mutation_p.V1527M|ITPR1_ENST00000357086.4_Missense_Mutation_p.V1533M|ITPR1_ENST00000456211.2_Missense_Mutation_p.V1518M			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1542					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)	AAAAGCCTCCGTGGAGAGCTG	0.483																																																	0													79.0	83.0	82.0					3																	4744601		1900	4124	6024	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.4579G>A	3.37:g.4744601G>A	ENSP00000401671:p.Val1527Met		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.V1527M	ENST00000443694.2	37	c.4579	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887893	0.91814	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.84229	0.5426	M	0.88842	2.985	0.80722	D	1	D;D	0.76494	0.995;0.999	P;D	0.66351	0.741;0.943	D	0.87634	0.2518	10	0.72032	D	0.01	.	18.4579	0.90728	0.0:0.0:1.0:0.0	.	1542;1533	Q14643;G5E9P1	ITPR1_HUMAN;.	M	1542;1527;1542;1533;1533;1518;1527	ENSP00000306253:V1527M;ENSP00000346595:V1542M;ENSP00000405934:V1533M;ENSP00000349597:V1533M;ENSP00000397885:V1518M;ENSP00000401671:V1527M	ENSP00000306253:V1527M	V	+	1	0	ITPR1	4719601	1.000000	0.71417	0.936000	0.37596	0.977000	0.68977	9.768000	0.98965	2.341000	0.79615	0.563000	0.77884	GTG	ITPR1	-	NULL	ENSG00000150995		0.483	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	-	0.00	37	0	G	NM_002222		4744601	+1	tier1	-	no_errors	ENST00000302640	ensembl	human	known	74_37	missense	30.51	41	18	SNP	1.000	A
KANK4	163782	genome.wustl.edu	37	1	62703983	62703983	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:62703983G>T	ENST00000371153.4	-	10	3332	c.2954C>A	c.(2953-2955)gCc>gAc	p.A985D	KANK4_ENST00000371150.1_Missense_Mutation_p.A341D|KANK4_ENST00000354381.3_Missense_Mutation_p.A357D|KANK4_ENST00000317477.4_Missense_Mutation_p.A123D	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	985						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTCCGCGTGGGCTCTCAGAAG	0.562																																																	0													41.0	44.0	43.0					1																	62703983		2203	4300	6503	SO:0001583	missense	0			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2954C>A	1.37:g.62703983G>T	ENSP00000360195:p.Ala985Asp		B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A985D	ENST00000371153.4	37	c.2954	CCDS620.1	1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934681	0.92458	.	.	ENSG00000132854	ENST00000371153;ENST00000317477;ENST00000354381;ENST00000371150	T;T;T;T	0.50813	0.73;1.44;0.73;0.73	5.15	5.15	0.70609	Ankyrin repeat-containing domain (2);	0.000000	0.39210	N	0.001429	T	0.69142	0.3078	M	0.74546	2.27	0.58432	D	0.999999	D;D	0.76494	0.999;0.996	D;D	0.71656	0.974;0.937	T	0.71076	-0.4697	10	0.56958	D	0.05	-21.1658	18.435	0.90642	0.0:0.0:1.0:0.0	.	357;985	Q5T7N3-2;Q5T7N3	.;KANK4_HUMAN	D	985;123;357;341	ENSP00000360195:A985D;ENSP00000321161:A123D;ENSP00000346352:A357D;ENSP00000360192:A341D	ENSP00000321161:A123D	A	-	2	0	KANK4	62476571	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.861000	0.87004	2.687000	0.91594	0.455000	0.32223	GCC	KANK4	-	pfscan_Ankyrin_rpt-contain_dom	ENSG00000132854		0.562	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK4	HGNC	protein_coding	OTTHUMT00000024877.1	-	0.00	34	0	G	NM_181712		62703983	-1	tier1	-	no_errors	ENST00000371153	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T
KCNA6	3742	genome.wustl.edu	37	12	4919747	4919747	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:4919747C>T	ENST00000280684.3	+	1	1406	c.540C>T	c.(538-540)tcC>tcT	p.S180S	KCNA6_ENST00000433855.1_Silent_p.S180S|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	180					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CCATCGTCTCCGTGTTGGTCA	0.587										HNSCC(72;0.22)																																							0													70.0	62.0	64.0					12																	4919747		2203	4300	6503	SO:0001819	synonymous_variant	0			X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.540C>T	12.37:g.4919747C>T				Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.S180	ENST00000280684.3	37	c.540	CCDS8534.1	12																																																																																			KCNA6	-	prints_K_chnl,prints_K_chnl_volt-dep_Kv1	ENSG00000151079		0.587	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	HGNC	protein_coding	OTTHUMT00000398909.1	-	0.00	49	0	C	NM_002235		4919747	+1	tier1	-	no_errors	ENST00000280684	ensembl	human	known	74_37	silent	55.26	17	21	SNP	0.021	T
KDM3B	51780	genome.wustl.edu	37	5	137727488	137727488	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:137727488G>A	ENST00000314358.5	+	8	2367	c.2167G>A	c.(2167-2169)Ggc>Agc	p.G723S	KDM3B_ENST00000394866.1_Missense_Mutation_p.G379S|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	723	Ser-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CATGGGGAATGGCCGCTCCAG	0.597																																																	0													47.0	55.0	52.0					5																	137727488		2198	4299	6497	SO:0001583	missense	0			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2167G>A	5.37:g.137727488G>A	ENSP00000326563:p.Gly723Ser		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.G723S	ENST00000314358.5	37	c.2167	CCDS34242.1	5	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646027	0.67358	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.70869	0.11;-0.52	5.42	5.42	0.78866	.	0.061246	0.64402	D	0.000005	T	0.72590	0.3479	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.68739	-0.5329	10	0.18276	T	0.48	-14.1307	19.1662	0.93559	0.0:0.0:1.0:0.0	.	379;723	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	S	723;513;379	ENSP00000326563:G723S;ENSP00000378335:G379S	ENSP00000326563:G723S	G	+	1	0	KDM3B	137755387	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.523000	0.81856	2.694000	0.91930	0.655000	0.94253	GGC	KDM3B	-	NULL	ENSG00000120733		0.597	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	-	0.00	27	0	G	NM_016604		137727488	+1	tier1	-	no_errors	ENST00000314358	ensembl	human	known	74_37	missense	71.43	10	25	SNP	1.000	A
KDM4A	9682	genome.wustl.edu	37	1	44137514	44137514	+	Missense_Mutation	SNP	G	G	A	rs368052422		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:44137514G>A	ENST00000372396.3	+	11	1836	c.1702G>A	c.(1702-1704)Gct>Act	p.A568T		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	568					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A568T(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AGGAAGCGCCGCTAGAAGTTT	0.612																																																	1	Substitution - Missense(1)	lung(1)											70.0	79.0	76.0					1																	44137514		2203	4300	6503	SO:0001583	missense	0			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.1702G>A	1.37:g.44137514G>A	ENSP00000361473:p.Ala568Thr		Q5VVB1	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.A568T	ENST00000372396.3	37	c.1702	CCDS491.1	1	.	.	.	.	.	.	.	.	.	.	G	8.458	0.854711	0.17106	.	.	ENSG00000066135	ENST00000372396	T	0.49432	0.78	5.17	-2.95	0.05564	.	1.055890	0.07341	N	0.880754	T	0.19046	0.0457	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24835	-1.0149	10	0.10111	T	0.7	-0.2975	6.6872	0.23152	0.4572:0.2595:0.2832:0.0	.	568	O75164	KDM4A_HUMAN	T	568	ENSP00000361473:A568T	ENSP00000361473:A568T	A	+	1	0	KDM4A	43910101	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.166000	0.09954	-0.629000	0.05575	0.650000	0.86243	GCT	KDM4A	-	NULL	ENSG00000066135		0.612	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4A	HGNC	protein_coding	OTTHUMT00000019960.1	-	0.00	28	0	G	NM_014663		44137514	+1	tier1	-	no_errors	ENST00000372396	ensembl	human	known	74_37	missense	26.92	18	7	SNP	0.000	A
KIAA0825	285600	genome.wustl.edu	37	5	93856418	93856418	+	Silent	SNP	G	G	T	rs368289292		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:93856418G>T	ENST00000329378.7	-	5	754	c.505C>A	c.(505-507)Cga>Aga	p.R169R	KIAA0825_ENST00000312498.7_Silent_p.R169R|KIAA0825_ENST00000513200.3_Silent_p.R169R|KIAA0825_ENST00000427991.2_Silent_p.R169R	NM_173665.2	NP_775936.1	Q8IV33	K0825_HUMAN	KIAA0825	169								p.R169*(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						AAGAAGCGTCGAAGATGCAGT	0.348																																																	2	Substitution - Nonsense(2)	large_intestine(2)											86.0	85.0	86.0					5																	93856418		2203	4299	6502	SO:0001819	synonymous_variant	0			BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000329378.7:c.505C>A	5.37:g.93856418G>T			O94914|Q6ZNN2	Silent	SNP	NULL	p.R169	ENST00000329378.7	37	c.505	CCDS4070.1	5																																																																																			KIAA0825	-	NULL	ENSG00000185261		0.348	KIAA0825-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0825	HGNC	protein_coding	OTTHUMT00000371180.2		0.00	30	0	G	NM_173665		93856418	-1			no_errors	ENST00000427991	ensembl	human	known	74_37	silent	6.67	28	2	SNP	1.000	T
KIAA1468	57614	genome.wustl.edu	37	18	59941278	59941278	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr18:59941278T>A	ENST00000398130.2	+	21	3058	c.2826T>A	c.(2824-2826)caT>caA	p.H942Q	KIAA1468_ENST00000256858.6_Missense_Mutation_p.H976Q	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	942										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CATTATCTCATGCTCCTCTTG	0.348																																																	0													131.0	127.0	128.0					18																	59941278		2203	4300	6503	SO:0001583	missense	0			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.2826T>A	18.37:g.59941278T>A	ENSP00000381198:p.His942Gln			Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation	p.H976Q	ENST00000398130.2	37	c.2928	CCDS11979.2	18	.	.	.	.	.	.	.	.	.	.	T	18.44	3.625399	0.66901	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.69040	-0.37;-0.37	6.17	5.01	0.66863	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73697	0.3620	L	0.42245	1.32	0.58432	D	0.999996	P;D;D	0.89917	0.935;0.979;1.0	P;P;D	0.83275	0.785;0.723;0.996	T	0.71718	-0.4508	9	.	.	.	-16.5443	10.981	0.47494	0.0:0.1286:0.0:0.8714	.	976;942;586	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	Q	942;976	ENSP00000381198:H942Q;ENSP00000256858:H976Q	.	H	+	3	2	KIAA1468	58092258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.766000	0.38491	1.147000	0.42369	0.533000	0.62120	CAT	KIAA1468	-	superfamily_ARM-type_fold	ENSG00000134444		0.348	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1468	HGNC	protein_coding	OTTHUMT00000256187.1	-	0.00	66	0	T	NM_020854		59941278	+1	tier1	-	no_errors	ENST00000256858	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	A
KIAA1549L	25758	genome.wustl.edu	37	11	33565593	33565593	+	Silent	SNP	C	C	A	rs2235944	byFrequency	TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:33565593C>A	ENST00000321505.4	+	1	1773	c.1593C>A	c.(1591-1593)tcC>tcA	p.S531S	KIAA1549L_ENST00000389726.3_Silent_p.S531S|KIAA1549L_ENST00000265654.5_Silent_p.S531S			Q6ZVL6	K154L_HUMAN	KIAA1549-like	531						integral component of membrane (GO:0016021)											CTCGACATTCCGTGTCTCATC	0.478																																																	0													162.0	164.0	163.0					11																	33565593		2047	4212	6259	SO:0001819	synonymous_variant	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1593C>A	11.37:g.33565593C>A			B0QYU0	Silent	SNP	NULL	p.S531	ENST00000321505.4	37	c.1593	CCDS44565.2	11																																																																																			KIAA1549L	-	NULL	ENSG00000110427		0.478	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	-	0.00	64	0	C	NM_012194		33565593	+1	tier1	-	no_errors	ENST00000389726	ensembl	human	known	74_37	silent	13.64	37	6	SNP	0.000	A
KIF5C	3800	genome.wustl.edu	37	2	149829945	149829945	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:149829945G>A	ENST00000435030.1	+	12	1581	c.1213G>A	c.(1213-1215)Gtt>Att	p.V405I	KIF5C_ENST00000397413.1_Missense_Mutation_p.V173I|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.V310I			O60282	KIF5C_HUMAN	kinesin family member 5C	405					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TATTGCTCCTGTTGTTGCTGG	0.488																																																	0													111.0	116.0	115.0					2																	149829945		1952	4149	6101	SO:0001583	missense	0			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1213G>A	2.37:g.149829945G>A	ENSP00000393379:p.Val405Ile		O95079|Q2YDC5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.V405I	ENST00000435030.1	37	c.1213		2	.	.	.	.	.	.	.	.	.	.	G	8.163	0.790005	0.16258	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	T;T;T	0.75704	-0.96;-0.96;-0.96	5.95	5.95	0.96441	.	0.282320	0.33217	N	0.005152	T	0.63367	0.2505	.	.	.	0.29469	N	0.857189	B	0.02656	0.0	B	0.04013	0.001	T	0.48186	-0.9057	9	0.14252	T	0.57	.	19.9882	0.97356	0.0:0.0:1.0:0.0	.	405	O60282	KIF5C_HUMAN	I	405;310;308;173	ENSP00000393379:V405I;ENSP00000410115:V310I;ENSP00000380560:V173I	ENSP00000334176:V308I	V	+	1	0	KIF5C	149538191	0.985000	0.35326	0.754000	0.31244	0.949000	0.60115	6.722000	0.74735	2.824000	0.97209	0.655000	0.94253	GTT	KIF5C	-	superfamily_P-loop_NTPase	ENSG00000168280		0.488	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	HGNC	protein_coding	OTTHUMT00000332562.3	-	0.00	44	0	G	NM_004522		149829945	+1	tier1	-	no_errors	ENST00000435030	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.900	A
KPNA1	3836	genome.wustl.edu	37	3	122144664	122144664	+	3'UTR	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:122144664G>T	ENST00000344337.6	-	0	2961				RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA|KPNA1_ENST00000466923.1_5'Flank|RP11-299J3.8_ENST00000608346.1_RNA	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)						apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		GGTTAAGCAGGTCATGTTGAG	0.398																																					Melanoma(12;340 801 11196 19797)												0																																										SO:0001624	3_prime_UTR_variant	0			S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.*1168C>A	3.37:g.122144664G>T			D3DN93|Q6IBQ9|Q9BQ56	RNA	SNP	-	NULL	ENST00000344337.6	37	NULL	CCDS3013.1	3																																																																																			KPNA1	-	-	ENSG00000114030		0.398	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA1	HGNC	protein_coding	OTTHUMT00000355740.1	-	0.00	41	0	G	NM_002264		122144664	-1	tier1	-	no_errors	ENST00000470904	ensembl	human	known	74_37	rna	7.02	53	4	SNP	0.042	T
KRT18	3875	genome.wustl.edu	37	12	53346032	53346033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:53346032_53346033insC	ENST00000388835.3	+	6	1288_1289	c.1078_1079insC	c.(1078-1080)gccfs	p.A360fs	KRT8_ENST00000546897.1_5'Flank|KRT8_ENST00000552551.1_5'Flank|AC107016.2_ENST00000581256.1_RNA|KRT18_ENST00000550600.1_Frame_Shift_Ins_p.A360fs|KRT8_ENST00000549198.1_5'Flank|KRT18_ENST00000388837.2_Frame_Shift_Ins_p.A360fs	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	360	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						ACAGCGCCAGGCCCAGGAGTAT	0.624																																																	0																																										SO:0001589	frameshift_variant	0				CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.1081dupC	12.37:g.53346035_53346035dupC	ENSP00000373487:p.Ala360fs		Q53G38|Q5U0N8|Q9BW26	Frame_Shift_Ins	INS	pfam_IF,prints_Keratin_I	p.Q361fs	ENST00000388835.3	37	c.1078_1079	CCDS31809.1	12																																																																																			KRT18	-	pfam_IF	ENSG00000111057		0.624	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT18	HGNC	protein_coding	OTTHUMT00000406405.1		0.00	24	0	-	NM_199187		53346033	+1	tier1		no_errors	ENST00000388835	ensembl	human	known	74_37	frame_shift_ins	46.88	17	15	INS	0.961:0.971	C
KRTAP9-1	728318	genome.wustl.edu	37	17	39346408	39346408	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:39346408delC	ENST00000398470.1	+	1	270	c.270delC	c.(268-270)tgcfs	p.C91fs	KRTAP9-1_ENST00000377723.3_Frame_Shift_Del_p.C63fs|KRTAP9-1_ENST00000318329.5_Frame_Shift_Del_p.C41fs	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN	keratin associated protein 9-1	91	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament (GO:0045095)				breast(1)|lung(3)	4						AGCCCACCTGCTGTGGGTCCA	0.622																																																	0																																										SO:0001589	frameshift_variant	0			AC006070	CCDS56029.1	17q21.2	2010-06-03			ENSG00000240542	ENSG00000240542		"""Keratin associated proteins"""	18912	protein-coding gene	gene with protein product			"""keratin associated protein 9-like 3"""	KRTAP9L3			Standard	NM_001190460		Approved	KAP9.1	uc021txf.1	A8MXZ3	OTTHUMG00000133636	ENST00000398470.1:c.270delC	17.37:g.39346408delC	ENSP00000381488:p.Cys91fs			Frame_Shift_Del	DEL	NULL	p.C91fs	ENST00000398470.1	37	c.270	CCDS56029.1	17																																																																																			KRTAP9-1	-	NULL	ENSG00000240542		0.622	KRTAP9-1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRTAP9-1	HGNC	protein_coding	OTTHUMT00000257781.1		0.00	165	0	C			39346408	+1			no_errors	ENST00000398470	ensembl	human	known	74_37	frame_shift_del	5.06	225	12	DEL	0.834	0
KRTAP9-1	728318	genome.wustl.edu	37	17	39346414	39346415	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	GT	GT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:39346414_39346415delGT	ENST00000398470.1	+	1	276_277	c.276_277delGT	c.(274-279)gggtccfs	p.S94fs	KRTAP9-1_ENST00000377723.3_Splice_Site|KRTAP9-1_ENST00000318329.5_Frame_Shift_Del_p.S44fs	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN	keratin associated protein 9-1	94	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament (GO:0045095)				breast(1)|lung(3)	4						CCTGCTGTGGGTCCAGCTGCTG	0.619																																																	0																																										SO:0001589	frameshift_variant	0			AC006070	CCDS56029.1	17q21.2	2010-06-03			ENSG00000240542	ENSG00000240542		"""Keratin associated proteins"""	18912	protein-coding gene	gene with protein product			"""keratin associated protein 9-like 3"""	KRTAP9L3			Standard	NM_001190460		Approved	KAP9.1	uc021txf.1	A8MXZ3	OTTHUMG00000133636	ENST00000398470.1:c.276_277delGT	17.37:g.39346414_39346415delGT	ENSP00000381488:p.Ser94fs			Frame_Shift_Del	DEL	NULL	p.S93fs	ENST00000398470.1	37	c.276_277	CCDS56029.1	17																																																																																			KRTAP9-1	-	NULL	ENSG00000240542		0.619	KRTAP9-1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRTAP9-1	HGNC	protein_coding	OTTHUMT00000257781.1		0.00	166	0	GT			39346415	+1			no_errors	ENST00000398470	ensembl	human	known	74_37	frame_shift_del	5.11	223	12	DEL	0.043:0.064	0
KY	339855	genome.wustl.edu	37	3	134322603	134322603	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:134322603G>A	ENST00000423778.2	-	11	1865	c.1804C>T	c.(1804-1806)Cat>Tat	p.H602Y	KY_ENST00000508956.1_Missense_Mutation_p.H581Y|KY_ENST00000503669.1_3'UTR	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	0					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GCAATACCATGCAGCTTCAAT	0.577																																																	0													64.0	62.0	63.0					3																	134322603		1987	4168	6155	SO:0001583	missense	0			AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.1804C>T	3.37:g.134322603G>A	ENSP00000397598:p.His602Tyr		B7Z1S4|Q6ZT15	Missense_Mutation	SNP	pfam_Transglutaminase-like,smart_Transglutaminase-like	p.H602Y	ENST00000423778.2	37	c.1804	CCDS46920.1	3	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155902	0.57259	.	.	ENSG00000174611	ENST00000508956;ENST00000423778	T;T	0.25085	1.82;1.82	5.84	4.95	0.65309	.	.	.	.	.	T	0.38878	0.1057	.	.	.	0.80722	D	1	D;D	0.57899	0.981;0.981	P;P	0.52957	0.714;0.714	T	0.18745	-1.0327	8	0.45353	T	0.12	.	13.8769	0.63657	0.0:0.0:0.7226:0.2774	.	581;602	Q8NBH2-3;Q8NBH2-4	.;.	Y	581;602	ENSP00000421297:H581Y;ENSP00000397598:H602Y	ENSP00000397598:H602Y	H	-	1	0	KY	135805293	0.998000	0.40836	0.981000	0.43875	0.970000	0.65996	5.302000	0.65733	1.435000	0.47434	0.561000	0.74099	CAT	KY	-	NULL	ENSG00000174611		0.577	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KY	HGNC	protein_coding	OTTHUMT00000357320.1	-	0.00	58	0	G	NM_178554		134322603	-1	tier1	-	no_errors	ENST00000423778	ensembl	human	known	74_37	missense	29.41	24	10	SNP	0.843	A
L3MBTL4	91133	genome.wustl.edu	37	18	6215771	6215771	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr18:6215771A>C	ENST00000284898.6	-	11	1048	c.848T>G	c.(847-849)gTt>gGt	p.V283G	L3MBTL4_ENST00000535782.1_Missense_Mutation_p.V96G|L3MBTL4_ENST00000400104.3_Missense_Mutation_p.V283G|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.V283G|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.V283G	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	283					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTTGGCAGGAACTGCATTGGT	0.338																																					Esophageal Squamous(41;748 902 17366 28959 43175)												0													61.0	62.0	62.0					18																	6215771		2203	4300	6503	SO:0001583	missense	0			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.848T>G	18.37:g.6215771A>C	ENSP00000284898:p.Val283Gly		A8MTL8|Q8IXS3	Missense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.V283G	ENST00000284898.6	37	c.848	CCDS11839.2	18	.	.	.	.	.	.	.	.	.	.	A	17.63	3.437199	0.62955	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.3	4.14	0.48551	.	0.389496	0.22789	N	0.055640	T	0.56702	0.2003	M	0.62723	1.935	0.58432	D	0.999993	B;P	0.45827	0.231;0.867	P;D	0.63597	0.473;0.916	T	0.56733	-0.7930	10	0.87932	D	0	.	7.8954	0.29704	0.9054:0.0:0.0946:0.0	.	283;283	Q8NA19;F8W9S8	LMBL4_HUMAN;.	G	283;283;283;96;283	ENSP00000382976:V283G;ENSP00000318543:V283G;ENSP00000284898:V283G;ENSP00000444774:V96G;ENSP00000382975:V283G	ENSP00000284898:V283G	V	-	2	0	L3MBTL4	6205771	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.743000	0.47442	0.965000	0.38133	0.533000	0.62120	GTT	L3MBTL4	-	smart_Mbt,pfscan_Mbt	ENSG00000154655		0.338	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL4	HGNC	protein_coding	OTTHUMT00000254448.2	-	0.00	55	0	A	NM_173464		6215771	-1	tier1	-	no_errors	ENST00000284898	ensembl	human	known	74_37	missense	38.98	36	23	SNP	1.000	C
LACRT	90070	genome.wustl.edu	37	12	55028588	55028588	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:55028588G>A	ENST00000257867.4	-	1	91	c.38C>T	c.(37-39)gCa>gTa	p.A13V	LACRT_ENST00000547511.1_Missense_Mutation_p.A13V	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	13					calcineurin-NFAT signaling cascade (GO:0033173)|calcium-mediated signaling (GO:0019722)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of secretion (GO:0051047)|protein localization to Golgi apparatus (GO:0034067)|tear secretion (GO:0070075)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|growth factor activity (GO:0008083)|laminin-1 binding (GO:0043237)|protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						CAGGGCCCCTGCTACAGCTGC	0.542																																																	0													122.0	115.0	117.0					12																	55028588		2203	4300	6503	SO:0001583	missense	0			AF238867	CCDS8883.1	12q13.2	2014-06-13			ENSG00000135413				16430	protein-coding gene	gene with protein product		607360				11419941	Standard	NM_033277		Approved	LACRITIN	uc001sgi.1	Q9GZZ8	OTTHUMG00000169936	ENST00000257867.4:c.38C>T	12.37:g.55028588G>A	ENSP00000257867:p.Ala13Val			Missense_Mutation	SNP	NULL	p.A13V	ENST00000257867.4	37	c.38	CCDS8883.1	12	.	.	.	.	.	.	.	.	.	.	G	8.397	0.841112	0.16891	.	.	ENSG00000135413	ENST00000547511;ENST00000257867	.	.	.	3.84	0.916	0.19373	.	0.842328	0.09672	N	0.770983	T	0.25005	0.0607	N	0.19112	0.55	0.09310	N	1	P	0.50943	0.94	P	0.51016	0.656	T	0.14035	-1.0487	9	0.87932	D	0	.	3.0703	0.06229	0.231:0.0:0.5558:0.2132	.	13	Q9GZZ8	LACRT_HUMAN	V	13	.	ENSP00000257867:A13V	A	-	2	0	LACRT	53314855	0.023000	0.18921	0.113000	0.21522	0.013000	0.08279	0.115000	0.15540	0.202000	0.20498	0.563000	0.77884	GCA	LACRT	-	NULL	ENSG00000135413		0.542	LACRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LACRT	HGNC	protein_coding	OTTHUMT00000406615.1	-	0.00	85	0	G	NM_033277		55028588	-1	tier1	-	no_errors	ENST00000257867	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.112	A
LAMA1	284217	genome.wustl.edu	37	18	6950864	6950864	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr18:6950864G>A	ENST00000389658.3	-	58	8407	c.8314C>T	c.(8314-8316)Cgc>Tgc	p.R2772C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2772	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AAGTGGAGGCGGCCCCCGTGC	0.572																																																	0													101.0	86.0	91.0					18																	6950864		2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8314C>T	18.37:g.6950864G>A	ENSP00000374309:p.Arg2772Cys			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.R2772C	ENST00000389658.3	37	c.8314	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085148	0.36758	.	.	ENSG00000101680	ENST00000389658	T	0.78595	-1.19	5.5	2.78	0.32641	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.905258	0.09542	N	0.788108	D	0.83312	0.5227	M	0.79475	2.455	0.32165	N	0.582398	D;D	0.76494	0.995;0.999	P;P	0.58391	0.719;0.838	T	0.76961	-0.2765	10	0.48119	T	0.1	.	4.4783	0.11755	0.2157:0.0:0.5252:0.2591	.	2772;102	P25391;B3KSD8	LAMA1_HUMAN;.	C	2772	ENSP00000374309:R2772C	ENSP00000374309:R2772C	R	-	1	0	LAMA1	6940864	0.984000	0.35163	0.180000	0.23079	0.501000	0.33797	1.921000	0.40035	0.303000	0.22785	0.561000	0.74099	CGC	LAMA1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000101680		0.572	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0.00	41	0	G	NM_005559		6950864	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	50.00	10	10	SNP	0.542	A
LAMA5	3911	genome.wustl.edu	37	20	60892800	60892800	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:60892800G>T	ENST00000252999.3	-	54	7340	c.7274C>A	c.(7273-7275)aCc>aAc	p.T2425N		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2425	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGCCTGCAGGGTGGCATTGTC	0.587																																																	0													41.0	38.0	39.0					20																	60892800		2185	4278	6463	SO:0001583	missense	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.7274C>A	20.37:g.60892800G>T	ENSP00000252999:p.Thr2425Asn		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.T2425N	ENST00000252999.3	37	c.7274	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	g	10.53	1.375541	0.24857	.	.	ENSG00000130702	ENST00000252999	T	0.09911	2.93	3.68	3.68	0.42216	Laminin I (1);	0.392430	0.25369	U	0.031172	T	0.18341	0.0440	L	0.50333	1.59	0.19575	N	0.999965	D	0.71674	0.998	D	0.63113	0.911	T	0.08046	-1.0741	10	0.17832	T	0.49	.	7.2758	0.26283	0.1279:0.0:0.8721:0.0	.	2425	O15230	LAMA5_HUMAN	N	2425	ENSP00000252999:T2425N	ENSP00000252999:T2425N	T	-	2	0	LAMA5	60326195	0.364000	0.24997	0.712000	0.30502	0.211000	0.24417	3.001000	0.49488	1.615000	0.50252	0.436000	0.28706	ACC	LAMA5	-	pfam_Laminin_I	ENSG00000130702		0.587	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	-	0.00	66	0	G	NM_005560		60892800	-1	tier1	-	no_errors	ENST00000252999	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.015	T
LARP7	51574	genome.wustl.edu	37	4	113567590	113567590	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:113567590A>G	ENST00000344442.5	+	3	564	c.286A>G	c.(286-288)Agt>Ggt	p.S96G	MIR302A_ENST00000385192.1_RNA|MIR302B_ENST00000362188.1_RNA|MIR302D_ENST00000362275.1_RNA|MIR302B_ENST00000509938.1_RNA|LARP7_ENST00000509061.1_Missense_Mutation_p.S103G|LARP7_ENST00000324052.6_Missense_Mutation_p.S96G|MIR302B_ENST00000505215.1_RNA|MIR302C_ENST00000362232.1_RNA|MIR367_ENST00000362299.1_RNA|MIR302B_ENST00000510655.1_RNA	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	96	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AGCATTGAGAAGTTCAGCTGT	0.254																																																	0													86.0	75.0	78.0					4																	113567590		1804	4078	5882	SO:0001583	missense	0			AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	24912	protein-coding gene	gene with protein product	"""P-TEFb-interaction protein for 7SK stability"""	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.286A>G	4.37:g.113567590A>G	ENSP00000344950:p.Ser96Gly		B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Missense_Mutation	SNP	pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La	p.S96G	ENST00000344442.5	37	c.286	CCDS3701.2	4	.	.	.	.	.	.	.	.	.	.	A	10.24	1.294822	0.23564	.	.	ENSG00000174720	ENST00000344442;ENST00000509061;ENST00000508577;ENST00000505034;ENST00000324052;ENST00000507443	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.29	4.1	0.47936	Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (3);	0.044760	0.85682	D	0.000000	T	0.39091	0.1065	N	0.20574	0.59	0.41003	D	0.984948	B;D	0.54397	0.157;0.966	B;P	0.50934	0.065;0.654	T	0.11131	-1.0600	10	0.22706	T	0.39	-15.5156	10.8308	0.46659	0.9253:0.0:0.0747:0.0	.	96;96	D6RFF0;Q4G0J3	.;LARP7_HUMAN	G	96;103;96;96;96;96	ENSP00000344950:S96G;ENSP00000422626:S103G;ENSP00000426646:S96G;ENSP00000421541:S96G;ENSP00000314311:S96G;ENSP00000421963:S96G	ENSP00000314311:S96G	S	+	1	0	LARP7	113787039	1.000000	0.71417	0.326000	0.25389	0.078000	0.17371	8.616000	0.90924	0.834000	0.34852	0.482000	0.46254	AGT	LARP7	-	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	ENSG00000174720		0.254	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP7	HGNC	protein_coding	OTTHUMT00000256417.2	-	0.00	76	0	A	NM_016648		113567590	+1	tier1	-	no_errors	ENST00000324052	ensembl	human	known	74_37	missense	34.29	46	24	SNP	1.000	G
LEKR1	389170	genome.wustl.edu	37	3	156544525	156544525	+	Intron	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:156544525T>C	ENST00000470811.1	+	1	70				LEKR1_ENST00000356539.4_Intron|LEKR1_ENST00000483177.1_Intron|LEKR1_ENST00000477399.1_Intron|LEKR1_ENST00000489350.1_Intron|LEKR1_ENST00000491763.1_5'UTR|LEKR1_ENST00000498839.1_Intron			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1											breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGTCTGGCCTTGCGGTTGGTT	0.572																																																	0																																										SO:0001627	intron_variant	0			AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.-1266+360T>C	3.37:g.156544525T>C				RNA	SNP	-	NULL	ENST00000470811.1	37	NULL		3																																																																																			LEKR1	-	-	ENSG00000197980		0.572	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	LEKR1	HGNC	protein_coding	OTTHUMT00000351625.3	-	0.00	70	0	T	NM_001004316		156544525	+1	tier1	-	no_errors	ENST00000485017	ensembl	human	putative	74_37	rna	10.53	34	4	SNP	0.010	C
LHX1	3975	genome.wustl.edu	37	17	35300239	35300239	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:35300239C>T	ENST00000254457.5	+	5	2443	c.1032C>T	c.(1030-1032)acC>acT	p.T344T	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	344					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				AGCGGTTTACCGACATCCTGG	0.741																																																	0													9.0	12.0	11.0					17																	35300239		2181	4263	6444	SO:0001819	synonymous_variant	0			U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.1032C>T	17.37:g.35300239C>T			Q3MIW0	Silent	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.T344	ENST00000254457.5	37	c.1032	CCDS11316.1	17																																																																																			LHX1	-	NULL	ENSG00000132130		0.741	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LHX1	HGNC	protein_coding	OTTHUMT00000256704.3	-	0.00	12	0	C	NM_005568		35300239	+1	tier1	-	no_errors	ENST00000254457	ensembl	human	known	74_37	silent	29.41	12	5	SNP	1.000	T
LINC00687	728450	genome.wustl.edu	37	20	11790835	11790835	+	lincRNA	SNP	G	G	A	rs567606657		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:11790835G>A	ENST00000558175.1	-	0	239									long intergenic non-protein coding RNA 687																		cacttgcggggtgaaggTTGA	0.498																																																	0																																												0			BX092309		20p12.2	2012-10-29	2012-10-29	2012-10-29	ENSG00000228422	ENSG00000228422		"""Long non-coding RNAs"""	16194	non-coding RNA	RNA, long non-coding			"""chromosome 20 open reading frame 61"""	C20orf61			Standard	XR_133255		Approved	dJ1012F16.1			OTTHUMG00000031887		20.37:g.11790835G>A				RNA	SNP	-	NULL	ENST00000558175.1	37	NULL		20																																																																																			LINC00687	-	-	ENSG00000228422		0.498	LINC00687-003	KNOWN	basic	lincRNA	LINC00687	HGNC	lincRNA	OTTHUMT00000416682.1	-	0.00	47	0	G	XR_109647		11790835	-1	tier1	-	no_errors	ENST00000427835	ensembl	human	known	74_37	rna	33.33	28	14	SNP	0.000	A
LINC00854	100874261	genome.wustl.edu	37	17	41376426	41376426	+	RNA	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:41376426C>T	ENST00000433702.2	-	0	500				LINC00854_ENST00000427995.1_RNA|LINC00854_ENST00000600764.1_RNA|LINC00854_ENST00000598568.1_RNA|LINC00854_ENST00000598128.1_RNA|LINC00854_ENST00000608223.1_RNA|LINC00854_ENST00000593624.1_RNA|LINC00854_ENST00000598934.1_RNA|LINC00854_ENST00000595400.1_RNA|LINC00854_ENST00000594691.1_RNA|LINC00854_ENST00000599491.1_RNA|LINC00854_ENST00000597948.1_RNA	NR_047479.1				long intergenic non-protein coding RNA 854																		gcgatggtggctgcactgatg	0.577																																																	0																																												0					17q21.31	2013-02-13	2013-02-13	2013-02-13	ENSG00000236383	ENSG00000236383		"""Long non-coding RNAs"""	43658	non-coding RNA	RNA, long non-coding			"""TMEM106A antisense RNA 1 (non-protein coding)"", ""TMEM106A antisense RNA 1"", ""TMEM106A antisense RNA 1 (tail to tail)"""	TMEM106A-AS1		22196729	Standard	NR_047479		Approved		uc031ras.1		OTTHUMG00000132641		17.37:g.41376426C>T				RNA	SNP	-	NULL	ENST00000433702.2	37	NULL		17																																																																																			LINC00854	-	-	ENSG00000236383		0.577	LINC00854-001	KNOWN	basic	antisense	LINC00854	HGNC	processed_transcript	OTTHUMT00000255889.2	-	0.00	77	0	C			41376426	-1	tier1	-	no_errors	ENST00000427995	ensembl	human	known	74_37	rna	6.02	78	5	SNP	0.000	T
LINC00905	148231	genome.wustl.edu	37	19	16146784	16146784	+	RNA	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:16146784G>A	ENST00000588117.2	+	0	1047					NR_024335.1|NR_024336.1				long intergenic non-protein coding RNA 905																		CACAGTGACCGAGCTCCTGCC	0.627																																																	0																																												0			BC031284, BC069223, DB461577		19p13.12	2013-05-21			ENSG00000167459	ENSG00000167459		"""Long non-coding RNAs"""	26334	non-coding RNA	RNA, long non-coding							Standard	NR_110321		Approved	FLJ25328			OTTHUMG00000182270		19.37:g.16146784G>A				RNA	SNP	-	NULL	ENST00000588117.2	37	NULL		19																																																																																			LINC00905	-	-	ENSG00000167459		0.627	LINC00905-001	KNOWN	basic	lincRNA	LINC00905	HGNC	processed_transcript	OTTHUMT00000460313.2	-	0.00	24	0	G	NR_024335		16146784	+1	tier1	-	no_errors	ENST00000588117	ensembl	human	known	74_37	rna	50.00	8	8	SNP	1.000	A
LOC101927093	101927093	genome.wustl.edu	37	17	28903278	28903278	+	RNA	SNP	A	A	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:28903278A>T	ENST00000583030.1	+	0	0				AC006050.2_ENST00000436477.2_RNA																							cctctttctgataggatgaga	0.438																																																	0																																												0																															17.37:g.28903278A>T				RNA	SNP	-	NULL	ENST00000583030.1	37	NULL		17																																																																																			AC006050.2	-	-	ENSG00000231421		0.438	AC005562.1-005	KNOWN	basic	processed_transcript	LOC101927093	Clone_based_vega_gene	processed_transcript	OTTHUMT00000444252.1	-	0.00	37	0	A			28903278	-1	tier1	-	no_errors	ENST00000436477	ensembl	human	known	74_37	rna	12.07	51	7	SNP	0.342	T
LOC440040	440040	genome.wustl.edu	37	11	49831435	49831435	+	RNA	SNP	A	A	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:49831435A>C	ENST00000527477.1	+	0	1660																											TGGGGTGCTCAGACTTTCACC	0.458																																																	0																																												0																															11.37:g.49831435A>C				RNA	SNP	-	NULL	ENST00000527477.1	37	NULL		11																																																																																			RP11-707M1.1	-	-	ENSG00000205035		0.458	RP11-707M1.1-003	KNOWN	basic	processed_transcript	LOC440040	Clone_based_vega_gene	pseudogene	OTTHUMT00000391378.2	-	0.00	214	0	A			49831435	+1	tier1	-	no_errors	ENST00000527477	ensembl	human	known	74_37	rna	19.64	177	44	SNP	0.989	C
LPHN2	23266	genome.wustl.edu	37	1	82456740	82456740	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:82456740G>T	ENST00000370728.1	+	25	4936	c.4291G>T	c.(4291-4293)Gat>Tat	p.D1431Y	LPHN2_ENST00000359929.3_Missense_Mutation_p.D1375Y|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000319517.6_Missense_Mutation_p.D1375Y|LPHN2_ENST00000370723.1_Missense_Mutation_p.D1433Y|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370725.1_Missense_Mutation_p.D1446Y|LPHN2_ENST00000271029.4_Missense_Mutation_p.D1403Y|LPHN2_ENST00000370730.1_Missense_Mutation_p.D1388Y|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000394879.1_Missense_Mutation_p.D1433Y|LPHN2_ENST00000370717.2_Missense_Mutation_p.D1446Y|LPHN2_ENST00000370721.1_Missense_Mutation_p.D1356Y|LPHN2_ENST00000335786.5_Missense_Mutation_p.D1388Y|LPHN2_ENST00000370727.1_Missense_Mutation_p.D1403Y			O95490	LPHN2_HUMAN	latrophilin 2	1431					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		gggcaatagtgatggttatat	0.423																																																	0													33.0	34.0	34.0					1																	82456740		2203	4300	6503	SO:0001583	missense	0			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.4291G>T	1.37:g.82456740G>T	ENSP00000359763:p.Asp1431Tyr		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.D1446Y	ENST00000370728.1	37	c.4336		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.64|16.64	3.178487|3.178487	0.57692|0.57692	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000402328	T;T;T;T;T;T;T;T;T;T;T;T|.	0.75367|.	-0.85;-0.89;-0.93;-0.87;-0.81;-0.76;-0.87;-0.87;-0.81;-0.76;-0.87;-0.93|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.66858|.	0.2832|.	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.996;0.997|.	D;D|.	0.68621|.	0.959;0.954|.	T|.	0.62737|.	-0.6791|.	10|.	0.87932|.	D|.	0|.	.|.	19.7629|19.7629	0.96329|0.96329	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1375;355|.	O95490-2;B3KVU1|.	.;.|.	Y|L	1356;1431;1388;1403;1446;1433;1375;1375;1446;1433;1403;1388|442	ENSP00000359756:D1356Y;ENSP00000359763:D1431Y;ENSP00000359765:D1388Y;ENSP00000359762:D1403Y;ENSP00000359760:D1446Y;ENSP00000359758:D1433Y;ENSP00000353006:D1375Y;ENSP00000322270:D1375Y;ENSP00000359752:D1446Y;ENSP00000378344:D1433Y;ENSP00000271029:D1403Y;ENSP00000337306:D1388Y|.	ENSP00000271029:D1403Y|.	D|X	+|+	1|2	0|2	LPHN2|LPHN2	82229328|82229328	1.000000|1.000000	0.71417|0.71417	0.845000|0.845000	0.33349|0.33349	0.937000|0.937000	0.57800|0.57800	9.230000|9.230000	0.95299|0.95299	2.666000|2.666000	0.90696|0.90696	0.561000|0.561000	0.74099|0.74099	GAT|TGA	LPHN2	-	pfam_GPCR_2_latrophilin_rcpt_C	ENSG00000117114		0.423	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	-	0.00	30	0	G	NM_012302		82456740	+1	tier1	-	no_errors	ENST00000370717	ensembl	human	known	74_37	missense	62.16	14	23	SNP	1.000	T
LRFN5	145581	genome.wustl.edu	37	14	42357119	42357119	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr14:42357119G>C	ENST00000298119.4	+	3	2480	c.1291G>C	c.(1291-1293)Gca>Cca	p.A431P	LRFN5_ENST00000554120.1_Missense_Mutation_p.A431P|LRFN5_ENST00000554171.1_Missense_Mutation_p.A431P	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	431	Fibronectin type-III.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ATCATCAACGGCACTACTTAA	0.353										HNSCC(30;0.082)																																							0													60.0	57.0	58.0					14																	42357119		2203	4300	6503	SO:0001583	missense	0			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1291G>C	14.37:g.42357119G>C	ENSP00000298119:p.Ala431Pro		B3KU78|Q86XL2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A431P	ENST00000298119.4	37	c.1291	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312227	0.60414	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.69806	-0.43;0.51;0.51	5.4	5.4	0.78164	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000029	T	0.80778	0.4688	M	0.75085	2.285	0.53688	D	0.99997	P;D	0.55800	0.956;0.973	D;P	0.65573	0.936;0.836	T	0.80529	-0.1342	10	0.46703	T	0.11	.	17.0338	0.86468	0.0:0.0:1.0:0.0	.	431;431	G3V364;Q96NI6	.;LRFN5_HUMAN	P	431	ENSP00000298119:A431P;ENSP00000451897:A431P;ENSP00000451067:A431P	ENSP00000298119:A431P	A	+	1	0	LRFN5	41426869	1.000000	0.71417	0.967000	0.41034	0.924000	0.55760	9.813000	0.99286	2.680000	0.91292	0.563000	0.77884	GCA	LRFN5	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000165379		0.353	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1	-	0.00	48	0	G	NM_152447		42357119	+1	tier1	-	no_errors	ENST00000298119	ensembl	human	known	74_37	missense	17.95	32	7	SNP	0.998	C
LRP1B	53353	genome.wustl.edu	37	2	141272290	141272290	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:141272290G>A	ENST00000389484.3	-	51	9172	c.8201C>T	c.(8200-8202)tCt>tTt	p.S2734F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2734	LDL-receptor class A 16. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCAATGCTTAGAAATACATTT	0.373										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													116.0	109.0	112.0					2																	141272290		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8201C>T	2.37:g.141272290G>A	ENSP00000374135:p.Ser2734Phe		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.S2734F	ENST00000389484.3	37	c.8201	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.113718	0.94339	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95918	-3.85	5.53	5.53	0.82687	.	0.074436	0.53938	U	0.000041	D	0.95875	0.8657	L	0.35593	1.075	0.47584	D	0.999465	D	0.61080	0.989	P	0.61070	0.883	D	0.95951	0.8954	10	0.56958	D	0.05	.	19.8158	0.96568	0.0:0.0:1.0:0.0	.	2734	Q9NZR2	LRP1B_HUMAN	F	2734;2672	ENSP00000374135:S2734F	ENSP00000374135:S2734F	S	-	2	0	LRP1B	140988760	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.359000	0.97115	2.749000	0.94314	0.655000	0.94253	TCT	LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	43	0	G	NM_018557		141272290	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	28.26	33	13	SNP	1.000	A
LRP1B	53353	genome.wustl.edu	37	2	141747211	141747211	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:141747211G>A	ENST00000389484.3	-	17	3631	c.2660C>T	c.(2659-2661)cCt>cTt	p.P887L	Y_RNA_ENST00000365022.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	887	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGATCATCAGGACAGCTATG	0.378										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													116.0	108.0	110.0					2																	141747211		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2660C>T	2.37:g.141747211G>A	ENSP00000374135:p.Pro887Leu		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.P887L	ENST00000389484.3	37	c.2660	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989837	0.74589	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95307	-3.67	5.69	4.8	0.61643	.	0.000000	0.85682	U	0.000000	D	0.93367	0.7885	L	0.46819	1.47	0.80722	D	1	P	0.34955	0.477	B	0.41946	0.371	D	0.91998	0.5608	10	0.33940	T	0.23	.	16.9901	0.86351	0.0:0.1276:0.8724:0.0	.	887	Q9NZR2	LRP1B_HUMAN	L	887;825	ENSP00000374135:P887L	ENSP00000374135:P887L	P	-	2	0	LRP1B	141463681	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.948000	0.87774	1.522000	0.49001	-0.175000	0.13238	CCT	LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.378	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	51	0	G	NM_018557		141747211	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	23.08	40	12	SNP	1.000	A
LRRC1	55227	genome.wustl.edu	37	6	53747766	53747766	+	Silent	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:53747766T>C	ENST00000370888.1	+	4	715	c.438T>C	c.(436-438)aaT>aaC	p.N146N	LRRC1_ENST00000370882.1_Silent_p.N146N	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	146						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		TACCTGAAAATATTGGCAAGT	0.368																																																	0													111.0	109.0	110.0					6																	53747766		2202	4298	6500	SO:0001819	synonymous_variant	0			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.438T>C	6.37:g.53747766T>C			Q5TGN3|Q9HAC0|Q9NVF1	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.N146	ENST00000370888.1	37	c.438	CCDS4953.2	6																																																																																			LRRC1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000137269		0.368	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC1	HGNC	protein_coding	OTTHUMT00000040970.2	-	0.00	47	0	T	NM_025168		53747766	+1	tier1	-	no_errors	ENST00000370888	ensembl	human	known	74_37	silent	23.21	43	13	SNP	1.000	C
LRRK2	120892	genome.wustl.edu	37	12	40646757	40646757	+	Silent	SNP	T	T	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:40646757T>G	ENST00000298910.7	+	11	1285	c.1227T>G	c.(1225-1227)tcT>tcG	p.S409S	LRRK2_ENST00000343742.2_Silent_p.S409S	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	409					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGATGCATTCTTCATCAAAGG	0.363																																																	0													89.0	86.0	87.0					12																	40646757		2203	4300	6503	SO:0001819	synonymous_variant	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1227T>G	12.37:g.40646757T>G			A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.S409	ENST00000298910.7	37	c.1227	CCDS31774.1	12																																																																																			LRRK2	-	superfamily_ARM-type_fold	ENSG00000188906		0.363	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1		0.00	47	0	T	XM_058513		40646757	+1			no_errors	ENST00000298910	ensembl	human	known	74_37	silent	14.29	30	5	SNP	0.974	G
MAML1	9794	genome.wustl.edu	37	5	179192383	179192383	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:179192383C>T	ENST00000292599.3	+	2	635	c.372C>T	c.(370-372)ggC>ggT	p.G124G	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCAGAATGGCGATCAACAGA	0.478																																																	0													75.0	79.0	78.0					5																	179192383		2203	4300	6503	SO:0001819	synonymous_variant	0			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.372C>T	5.37:g.179192383C>T				Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.G124	ENST00000292599.3	37	c.372	CCDS34315.1	5																																																																																			MAML1	-	NULL	ENSG00000161021		0.478	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML1	HGNC	protein_coding	OTTHUMT00000372316.2		0.00	47	0	C	NM_014757		179192383	+1			no_errors	ENST00000292599	ensembl	human	known	74_37	silent	6.06	31	2	SNP	0.001	T
MANSC4	100287284	genome.wustl.edu	37	12	27916116	27916116	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:27916116T>C	ENST00000381273.3	-	3	577	c.578A>G	c.(577-579)aAg>aGg	p.K193R		NM_001146221.1	NP_001139693.1	A6NHS7	MANS4_HUMAN	MANSC domain containing 4	193						integral component of membrane (GO:0016021)				kidney(1)	1						GGTTAATTCCTTAGAATAACT	0.403																																																	0													242.0	198.0	211.0					12																	27916116		692	1591	2283	SO:0001583	missense	0				CCDS53770.1	12p11.22	2011-05-05			ENSG00000205693	ENSG00000205693			40023	protein-coding gene	gene with protein product							Standard	NM_001146221		Approved		uc010sjs.1	A6NHS7	OTTHUMG00000169216	ENST00000381273.3:c.578A>G	12.37:g.27916116T>C	ENSP00000370673:p.Lys193Arg			Missense_Mutation	SNP	pfam_MANSC_N,smart_MANSC_N,pfscan_MANSC	p.K193R	ENST00000381273.3	37	c.578	CCDS53770.1	12	.	.	.	.	.	.	.	.	.	.	T	6.472	0.455217	0.12283	.	.	ENSG00000205693	ENST00000381273	T	0.42900	0.96	5.7	3.24	0.37175	.	0.438446	0.21765	N	0.069444	T	0.19208	0.0461	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22382	-1.0218	10	0.07325	T	0.83	-7.8993	4.1246	0.10121	0.1523:0.1697:0.0:0.6781	.	193	A6NHS7	MANS4_HUMAN	R	193	ENSP00000370673:K193R	ENSP00000370673:K193R	K	-	2	0	MANSC4	27807383	0.000000	0.05858	0.004000	0.12327	0.080000	0.17528	0.055000	0.14229	1.001000	0.39076	0.528000	0.53228	AAG	MANSC4	-	NULL	ENSG00000205693		0.403	MANSC4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	MANSC4	HGNC	protein_coding	OTTHUMT00000402902.1	-	0.00	74	0	T			27916116	-1	tier1	-	no_errors	ENST00000381273	ensembl	human	novel	74_37	missense	65.79	13	25	SNP	0.000	C
MAP4K5	11183	genome.wustl.edu	37	14	50941819	50941819	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr14:50941819T>G	ENST00000013125.4	-	9	836	c.518A>C	c.(517-519)aAa>aCa	p.K173T	MAP4K5_ENST00000557578.1_5'UTR	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	173	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					AATGAAAGATTTTCGTTTTGC	0.353																																																	0													114.0	112.0	113.0					14																	50941819		1843	4088	5931	SO:0001583	missense	0			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.518A>C	14.37:g.50941819T>G	ENSP00000013125:p.Lys173Thr		Q8IYF6	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.K173T	ENST00000013125.4	37	c.518		14	.	.	.	.	.	.	.	.	.	.	T	19.44	3.828869	0.71258	.	.	ENSG00000012983	ENST00000013125;ENST00000555216	T;T	0.77620	-0.08;-1.11	5.14	5.14	0.70334	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.099910	0.64402	D	0.000002	T	0.79417	0.4442	N	0.16602	0.42	0.80722	D	1	D;D	0.89917	0.973;1.0	D;D	0.87578	0.926;0.998	T	0.82510	-0.0421	10	0.62326	D	0.03	.	14.2379	0.65938	0.0:0.0:0.0:1.0	.	173;173	B2R928;Q9Y4K4	.;M4K5_HUMAN	T	173;106	ENSP00000013125:K173T;ENSP00000452289:K106T	ENSP00000013125:K173T	K	-	2	0	MAP4K5	50011569	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.064000	0.71169	2.061000	0.61500	0.459000	0.35465	AAA	MAP4K5	-	pfam_Prot_kinase_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_dom	ENSG00000012983		0.353	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	MAP4K5	HGNC	protein_coding	OTTHUMT00000410880.1	-	0.00	63	0	T	NM_006575		50941819	-1	tier1	-	no_errors	ENST00000013125	ensembl	human	known	74_37	missense	18.52	44	10	SNP	1.000	G
MARCH6	10299	genome.wustl.edu	37	5	10405769	10405769	+	Silent	SNP	C	C	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:10405769C>A	ENST00000274140.5	+	16	1564	c.1432C>A	c.(1432-1434)Cga>Aga	p.R478R	MARCH6_ENST00000503788.1_Silent_p.R373R|MARCH6_ENST00000510792.1_Silent_p.R176R|MARCH6_ENST00000449913.2_Silent_p.R430R	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	478					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R478*(1)|p.R478R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TAGGCATCTCCGAAGATTTAT	0.338																																																	2	Substitution - Nonsense(1)|Substitution - coding silent(1)	lung(2)											111.0	110.0	110.0					5																	10405769		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1432C>A	5.37:g.10405769C>A			A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.R478	ENST00000274140.5	37	c.1432	CCDS34135.1	5																																																																																			MARCH6	-	NULL	ENSG00000145495		0.338	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH6	HGNC	protein_coding	OTTHUMT00000366919.2		0.00	19	0	C	NM_005885		10405769	+1			no_errors	ENST00000274140	ensembl	human	known	74_37	silent	9.52	19	2	SNP	1.000	A
MARK2	2011	genome.wustl.edu	37	11	63670599	63670599	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:63670599G>A	ENST00000509502.2	+	14	1844	c.1381G>A	c.(1381-1383)Ggc>Agc	p.G461S	MARK2_ENST00000377810.3_Missense_Mutation_p.G461S|MARK2_ENST00000513765.2_Missense_Mutation_p.G462S|MARK2_ENST00000425897.2_Missense_Mutation_p.G461S|MARK2_ENST00000377809.4_Missense_Mutation_p.G495S|MARK2_ENST00000502399.3_Missense_Mutation_p.G494S|MARK2_ENST00000508192.1_Missense_Mutation_p.G494S|MARK2_ENST00000315032.8_Missense_Mutation_p.G495S|MARK2_ENST00000402010.2_Missense_Mutation_p.G495S|MARK2_ENST00000361128.5_Missense_Mutation_p.G495S|MARK2_ENST00000350490.7_Missense_Mutation_p.G494S|MARK2_ENST00000408948.3_Missense_Mutation_p.G461S|MARK2_ENST00000413835.2_Missense_Mutation_p.G495S	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GGCCAGCCTCGGCCAGGCCTC	0.577																																																	0													100.0	102.0	101.0					11																	63670599		2201	4297	6498	SO:0001583	missense	0			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1381G>A	11.37:g.63670599G>A	ENSP00000423974:p.Gly461Ser			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G495S	ENST00000509502.2	37	c.1483	CCDS41665.1	11	.	.	.	.	.	.	.	.	.	.	g	8.689	0.907087	0.17833	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.70631	-0.48;-0.48;-0.48;-0.42;-0.44;-0.43;-0.44;-0.42;-0.5;-0.48;-0.44;-0.47	4.7	3.79	0.43588	.	0.272209	0.34386	N	0.004008	T	0.45256	0.1333	N	0.19112	0.55	0.44282	D	0.997144	B;B;B;P;B;B	0.35700	0.001;0.035;0.0;0.516;0.079;0.007	B;B;B;B;B;B	0.28709	0.001;0.016;0.002;0.093;0.009;0.01	T	0.40831	-0.9542	10	0.07482	T	0.82	.	8.3947	0.32550	0.1813:0.0:0.8187:0.0	.	461;461;494;495;495;494	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	S	495;495;495;495;461;494;495;494;494;461;462;461;461	ENSP00000385751:G495S;ENSP00000326632:G495S;ENSP00000367040:G495S;ENSP00000389184:G495S;ENSP00000367041:G461S;ENSP00000425765:G494S;ENSP00000355091:G495S;ENSP00000294247:G494S;ENSP00000423974:G461S;ENSP00000421075:G462S;ENSP00000386128:G461S;ENSP00000415494:G461S	ENSP00000326632:G495S	G	+	1	0	MARK2	63427175	1.000000	0.71417	0.983000	0.44433	0.981000	0.71138	7.995000	0.88328	1.200000	0.43188	0.556000	0.70494	GGC	MARK2	-	NULL	ENSG00000072518		0.577	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	MARK2	HGNC	protein_coding	OTTHUMT00000360862.2	-	0.00	48	0	G	NM_017490		63670599	+1	tier1	-	no_errors	ENST00000402010	ensembl	human	known	74_37	missense	18.92	30	7	SNP	0.984	A
DNASE2	1777	genome.wustl.edu	37	19	12984812	12984812	+	IGR	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:12984812G>A	ENST00000222219.3	-	0	1955				MAST1_ENST00000251472.4_Missense_Mutation_p.A1281T|AC020934.1_ENST00000578125.1_RNA	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal						apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						CAAGAAGGGCGCGCTGCGCAA	0.677																																																	0													16.0	17.0	17.0					19																	12984812		2202	4300	6502	SO:0001628	intergenic_variant	0			AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115			19.37:g.12984812G>A			B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.A1281T	ENST00000222219.3	37	c.3841	CCDS12284.1	19	.	.	.	.	.	.	.	.	.	.	g	10.89	1.477043	0.26511	.	.	ENSG00000105613	ENST00000251472	T	0.67865	-0.29	4.83	4.83	0.62350	.	0.078589	0.51477	D	0.000082	T	0.51753	0.1693	L	0.29908	0.895	0.09310	N	0.999998	B	0.23650	0.089	B	0.17722	0.019	T	0.28427	-1.0044	10	0.15499	T	0.54	-15.5049	13.8083	0.63248	0.0:0.0:1.0:0.0	.	1281	Q9Y2H9	MAST1_HUMAN	T	1281	ENSP00000251472:A1281T	ENSP00000251472:A1281T	A	+	1	0	MAST1	12845812	0.001000	0.12720	0.760000	0.31359	0.925000	0.55904	0.821000	0.27338	2.402000	0.81655	0.552000	0.68991	GCG	MAST1	-	NULL	ENSG00000105613		0.677	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451790.1	-	0.00	66	0	G			12984812	+1	tier1	-	no_errors	ENST00000251472	ensembl	human	known	74_37	missense	32.08	36	17	SNP	0.263	A
MASTL	84930	genome.wustl.edu	37	10	27459837	27459837	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:27459837G>C	ENST00000375940.4	+	8	2006	c.1949G>C	c.(1948-1950)aGa>aCa	p.R650T	MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_Missense_Mutation_p.R650T|MASTL_ENST00000375946.4_Missense_Mutation_p.R650T			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	650	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCTCTAAAAGAAATGCTGTT	0.388																																																	0													87.0	87.0	87.0					10																	27459837		2203	4300	6503	SO:0001583	missense	0			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1949G>C	10.37:g.27459837G>C	ENSP00000365107:p.Arg650Thr		Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	pfam_Prot_kinase_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_dom	p.R650T	ENST00000375940.4	37	c.1949	CCDS53502.1	10	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528791	0.27387	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.22743	1.94;1.94;1.94	5.28	0.0194	0.14120	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.400107	0.29185	N	0.012894	T	0.11879	0.0289	L	0.33485	1.01	0.28055	N	0.933208	B;B;B	0.11235	0.004;0.003;0.004	B;B;B	0.14578	0.011;0.004;0.007	T	0.12041	-1.0563	10	0.45353	T	0.12	-7.2766	2.5328	0.04707	0.3017:0.1244:0.448:0.1259	.	650;650;650	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	T	650	ENSP00000365113:R650T;ENSP00000343446:R650T;ENSP00000365107:R650T	ENSP00000343446:R650T	R	+	2	0	MASTL	27499843	1.000000	0.71417	0.452000	0.26994	0.931000	0.56810	1.023000	0.30065	0.033000	0.15463	0.591000	0.81541	AGA	MASTL	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000120539		0.388	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MASTL	HGNC	protein_coding	OTTHUMT00000047320.1	-	0.00	43	0	G	NM_032844		27459837	+1	tier1	-	no_errors	ENST00000375940	ensembl	human	known	74_37	missense	19.05	34	8	SNP	0.990	C
MBIP	51562	genome.wustl.edu	37	14	36770037	36770037	+	Intron	DEL	A	A	-	rs79987603		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr14:36770037delA	ENST00000416007.4	-	8	976				MBIP_ENST00000359527.7_Intron|MBIP_ENST00000318473.7_Intron	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		GCTCTAGATTAAAAAAAAAAA	0.279																																																	0									,	80,359,3749		2,0,76,2,355,1659	22.0	24.0	23.0		,	-4.8	0.0	14	dbSNP_131	25	127,760,7263		1,4,121,6,744,3199	no	intron,intron	MBIP	NM_016586.2,NM_001144891.1	,	3,4,197,8,1099,4858	A1A1,A1A2,A1R,A2A2,A2R,RR		10.8834,10.4823,10.7473	,	,	36770037	207,1119,11012	2175	4261	6436	SO:0001627	intron_variant	0			BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.889-8T>-	14.37:g.36770037delA			Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	RNA	DEL	-	NULL	ENST00000416007.4	37	NULL	CCDS9658.1	14																																																																																			MBIP	-	-	ENSG00000151332		0.279	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MBIP	HGNC	protein_coding	OTTHUMT00000276685.2		0.00	64	0	A	NM_016586		36770037	-1	tier1		no_errors	ENST00000604154	ensembl	human	putative	74_37	rna	14.63	70	12	DEL	0.241	-
ASF1A	25842	genome.wustl.edu	37	6	119215407	119215407	+	De_novo_Start_OutOfFrame	SNP	T	T	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:119215407T>A	ENST00000229595.5	+	0	24				MCM9_ENST00000505485.1_5'UTR|MCM9_ENST00000316316.6_Intron	NM_014034.2	NP_054753.1	Q9Y294	ASF1A_HUMAN	anti-silencing function 1A histone chaperone						chromatin modification (GO:0016568)|DNA repair (GO:0006281)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|muscle cell differentiation (GO:0042692)|negative regulation of chromatin silencing (GO:0031936)|nucleosome assembly (GO:0006334)|osteoblast differentiation (GO:0001649)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		TGCAAAACACTGTGGAGTGCT	0.542																																																	0																																												0			AF279306	CCDS47469.1	6q22.31	2013-05-01	2013-05-01		ENSG00000111875	ENSG00000111875			20995	protein-coding gene	gene with protein product		609189	"""ASF1 anti-silencing function 1 homolog A (S. cerevisiae)"""			10810093, 11042152	Standard	NM_014034		Approved	DKFZP547E2110, CIA	uc011ebn.2	Q9Y294	OTTHUMG00000015470	ENST00000229595.5:c.-171T>A	6.37:g.119215407T>A			Q6IA08|Q9P014	RNA	SNP	-	NULL	ENST00000229595.5	37	NULL	CCDS47469.1	6																																																																																			MCM9	-	-	ENSG00000111877		0.542	ASF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM9	HGNC	protein_coding	OTTHUMT00000361910.1	-	0.00	12	0	T	NM_014034		119215407	-1	tier1	-	no_errors	ENST00000368478	ensembl	human	known	74_37	rna	70.00	3	7	SNP	0.991	A
MCPH1	79648	genome.wustl.edu	37	8	6293568	6293568	+	Splice_Site	SNP	G	G	T	rs201721894		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:6293568G>T	ENST00000344683.5	+	5	397		c.e5-1		MCPH1_ENST00000519480.1_Splice_Site|MCPH1_ENST00000522905.1_Splice_Site	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1						cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		TTTTTGCACAGCGTAAATGTA	0.343																																					Colon(95;1448 1467 8277 34473 35819)												0													53.0	50.0	51.0					8																	6293568		1827	4086	5913	SO:0001630	splice_region_variant	0			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.322-1G>T	8.37:g.6293568G>T			B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Splice_Site	SNP	-	e5-1	ENST00000344683.5	37	c.322-1	CCDS43689.1	8	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071204	0.55646	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9079	0.86133	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MCPH1	6280976	1.000000	0.71417	0.876000	0.34364	0.649000	0.38597	5.793000	0.69060	2.664000	0.90586	0.655000	0.94253	.	MCPH1	-	-	ENSG00000147316		0.343	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCPH1	HGNC	protein_coding	OTTHUMT00000374532.2	-	0.00	53	0	G	NM_024596	Intron	6293568	+1	tier1	-	no_errors	ENST00000344683	ensembl	human	known	74_37	splice_site	6.85	68	5	SNP	0.980	T
MED12	9968	genome.wustl.edu	37	X	70342374	70342374	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:70342374G>T	ENST00000374080.3	+	9	1297	c.1265G>T	c.(1264-1266)cGg>cTg	p.R422L	MED12_ENST00000333646.6_Missense_Mutation_p.R422L|MED12_ENST00000374102.1_Missense_Mutation_p.R422L			Q93074	MED12_HUMAN	mediator complex subunit 12	422					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCAAAGTTGCGGGAGATCGAG	0.493			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													59.0	56.0	57.0					X																	70342374		1954	4128	6082	SO:0001583	missense	0			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.1265G>T	X.37:g.70342374G>T	ENSP00000363193:p.Arg422Leu		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.R422L	ENST00000374080.3	37	c.1265	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	.	14.80	2.644732	0.47258	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.0	5.0	0.66597	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	T	0.50154	0.1599	L	0.58583	1.82	0.80722	D	1	P;D;P;P	0.59357	0.564;0.985;0.943;0.766	B;P;P;P	0.61874	0.17;0.895;0.771;0.484	T	0.48091	-0.9065	10	0.48119	T	0.1	-19.2746	17.5196	0.87783	0.0:0.0:1.0:0.0	.	422;269;422;422	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	L	422;422;422;422;390	ENSP00000333125:R422L;ENSP00000363215:R422L;ENSP00000363193:R422L;ENSP00000414203:R390L	ENSP00000333125:R422L	R	+	2	0	MED12	70259099	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.168000	0.77570	2.321000	0.78463	0.502000	0.49764	CGG	MED12	-	pfam_Mediator_Med12_LCEWAV	ENSG00000184634		0.493	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1		0.00	24	0	G	NM_005120		70342374	+1			no_errors	ENST00000333646	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	T
MED23	9439	genome.wustl.edu	37	6	131946009	131946009	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:131946009G>T	ENST00000368068.3	-	4	459	c.280C>A	c.(280-282)Ccc>Acc	p.P94T	MED23_ENST00000368058.1_Missense_Mutation_p.P94T|MED23_ENST00000368060.3_Missense_Mutation_p.P94T|MED23_ENST00000540546.1_Missense_Mutation_p.P94T|MED23_ENST00000539158.1_Missense_Mutation_p.P94T|MED23_ENST00000368053.4_Missense_Mutation_p.P94T|MED23_ENST00000354577.4_Missense_Mutation_p.P94T|MED23_ENST00000403834.3_Missense_Mutation_p.P94T	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	94					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ACGTACCTGGGTGGAAGGAGA	0.368																																																	0													84.0	83.0	84.0					6																	131946009		2203	4300	6503	SO:0001583	missense	0			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.280C>A	6.37:g.131946009G>T	ENSP00000357047:p.Pro94Thr		B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	pfam_Mediator_Med23	p.P94T	ENST00000368068.3	37	c.280	CCDS5147.1	6	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028265	0.75390	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000368053;ENST00000540546;ENST00000539158	T;T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.77705	0.4170	L	0.29908	0.895	0.80722	D	1	D;P;P	0.76494	0.999;0.858;0.829	D;B;B	0.78314	0.991;0.388;0.269	T	0.71351	-0.4619	10	0.18276	T	0.48	.	20.3138	0.98647	0.0:0.0:1.0:0.0	.	94;94;94	Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;MED23_HUMAN;.	T	94	ENSP00000346588:P94T;ENSP00000357047:P94T;ENSP00000384536:P94T;ENSP00000357039:P94T;ENSP00000357037:P94T;ENSP00000357032:P94T;ENSP00000437818:P94T;ENSP00000445072:P94T	ENSP00000346588:P94T	P	-	1	0	MED23	131987702	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.869000	0.99810	2.814000	0.96858	0.585000	0.79938	CCC	MED23	-	pfam_Mediator_Med23	ENSG00000112282		0.368	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	-	0.00	45	0	G			131946009	-1	tier1	-	no_errors	ENST00000368058	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T
MEG3	55384	genome.wustl.edu	37	14	101325104	101325104	+	RNA	SNP	C	C	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr14:101325104C>G	ENST00000554041.1	-	0	143																											CCTTTGGTGTCTGCCTCATGC	0.607																																																	0																																												0																															14.37:g.101325104C>G				RNA	SNP	-	NULL	ENST00000554041.1	37	NULL		14																																																																																			MEG3	-	-	ENSG00000214548		0.607	RP11-123M6.2-001	KNOWN	basic	antisense	MEG3	HGNC	antisense	OTTHUMT00000414687.1	-	0.00	72	0	C			101325104	+1	tier1	-	no_errors	ENST00000398460	ensembl	human	known	74_37	rna	20.27	59	15	SNP	0.000	G
METTL13	51603	genome.wustl.edu	37	1	171753185	171753185	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:171753185C>T	ENST00000361735.3	+	2	725	c.459C>T	c.(457-459)ggC>ggT	p.G153G	METTL13_ENST00000367737.5_Intron|METTL13_ENST00000362019.3_Silent_p.G67G|METTL13_ENST00000458517.1_Silent_p.G152G	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	153							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TGCAGGTGGGCGGTCGCTATC	0.597																																																	0													99.0	81.0	87.0					1																	171753185		2203	4300	6503	SO:0001819	synonymous_variant	0			AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.459C>T	1.37:g.171753185C>T			A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Silent	SNP	pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase	p.G153	ENST00000361735.3	37	c.459	CCDS1299.1	1																																																																																			METTL13	-	pfam_Methyltransf_11	ENSG00000010165		0.597	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL13	HGNC	protein_coding	OTTHUMT00000084528.5	-	0.00	57	0	C	NM_014955		171753185	+1	tier1	-	no_errors	ENST00000361735	ensembl	human	known	74_37	silent	23.08	20	6	SNP	1.000	T
MKRN3	7681	genome.wustl.edu	37	15	23812089	23812089	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:23812089T>G	ENST00000314520.3	+	1	1636	c.1160T>G	c.(1159-1161)cTt>cGt	p.L387R	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Missense_Mutation_p.L147R	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	387					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AAGCAGAAACTTATTCAGCAA	0.498																																																	0													98.0	98.0	98.0					15																	23812089		2203	4300	6503	SO:0001583	missense	0			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.1160T>G	15.37:g.23812089T>G	ENSP00000313881:p.Leu387Arg			Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.L387R	ENST00000314520.3	37	c.1160	CCDS10013.1	15	.	.	.	.	.	.	.	.	.	.	T	15.46	2.839795	0.51057	.	.	ENSG00000179455	ENST00000314520	T	0.39787	1.06	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.65709	0.2717	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71600	-0.4544	10	0.87932	D	0	.	11.5517	0.50725	0.0:0.0:0.0:1.0	.	387	Q13064	MKRN3_HUMAN	R	387	ENSP00000313881:L387R	ENSP00000313881:L387R	L	+	2	0	MKRN3	21363182	1.000000	0.71417	0.576000	0.28549	0.428000	0.31595	7.306000	0.78905	2.049000	0.60858	0.533000	0.62120	CTT	MKRN3	-	NULL	ENSG00000179455		0.498	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN3	HGNC	protein_coding	OTTHUMT00000251225.1	-	0.00	27	0	T	NM_005664		23812089	+1	tier1	-	no_errors	ENST00000314520	ensembl	human	known	74_37	missense	29.41	24	10	SNP	0.996	G
MLF2	8079	genome.wustl.edu	37	12	6858118	6858118	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:6858118C>T	ENST00000203630.5	-	8	1234	c.590G>A	c.(589-591)cGg>cAg	p.R197Q	MLF2_ENST00000564181.1_5'Flank|MLF2_ENST00000542154.1_Missense_Mutation_p.R197Q|MLF2_ENST00000539187.1_Missense_Mutation_p.R197Q|MLF2_ENST00000435120.1_Missense_Mutation_p.R197Q			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	197					defense response (GO:0006952)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				kidney(2)|large_intestine(3)|lung(4)	9						GGTCTCCCGCCGCCACTCGTC	0.697																																																	0													15.0	14.0	14.0					12																	6858118		2192	4279	6471	SO:0001583	missense	0			U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693			7126	protein-coding gene	gene with protein product		601401				8661158	Standard	NM_005439		Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.590G>A	12.37:g.6858118C>T	ENSP00000203630:p.Arg197Gln			Missense_Mutation	SNP	pfam_Myeloid_leukemia_factor	p.R197Q	ENST00000203630.5	37	c.590	CCDS8559.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.400|7.400	0.632577|0.632577	0.14322|0.14322	.|.	.|.	ENSG00000089693|ENSG00000089693	ENST00000537126|ENST00000435120;ENST00000203630;ENST00000542154;ENST00000539187	.|.	.|.	.|.	5.21|5.21	4.33|4.33	0.51752|0.51752	.|.	.|0.046101	.|0.85682	.|D	.|0.000000	T|T	0.36220|0.36220	0.0959|0.0959	N|N	0.16307|0.16307	0.4|0.4	0.44469|0.44469	D|D	0.997407|0.997407	.|B	.|0.25743	.|0.133	.|B	.|0.22601	.|0.04	T|T	0.23726|0.23726	-1.0180|-1.0180	6|9	0.87932|0.02654	D|T	0|1	.|.	13.658|13.658	0.62349|0.62349	0.0:0.9256:0.0:0.0743|0.0:0.9256:0.0:0.0743	.|.	.|197	.|Q15773	.|MLF2_HUMAN	S|Q	208|197	.|.	ENSP00000439789:G208S|ENSP00000203630:R197Q	G|R	-|-	1|2	0|0	MLF2|MLF2	6728379|6728379	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.024000|0.024000	0.10985|0.10985	6.612000|6.612000	0.74187|0.74187	1.206000|1.206000	0.43276|0.43276	-0.218000|-0.218000	0.12543|0.12543	GGC|CGG	MLF2	-	pfam_Myeloid_leukemia_factor	ENSG00000089693		0.697	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLF2	HGNC	protein_coding	OTTHUMT00000400733.2	-	0.00	100	0	C			6858118	-1	tier1	-	no_errors	ENST00000203630	ensembl	human	known	74_37	missense	31.75	43	20	SNP	1.000	T
MROH6	642475	genome.wustl.edu	37	8	144652708	144652708	+	Silent	SNP	C	C	T	rs201505046		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:144652708C>T	ENST00000398882.3	-	5	1096	c.840G>A	c.(838-840)ccG>ccA	p.P280P	MROH6_ENST00000524906.1_5'Flank|MROH6_ENST00000533679.1_5'Flank|MROH6_ENST00000534459.1_5'Flank|RP11-661A12.9_ENST00000531730.1_RNA|MROH6_ENST00000532704.1_5'Flank	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	280																	CGGGGGAGCACGGGCTGCGGG	0.642																																																	0								C		0,4182		0,0,2091	53.0	60.0	58.0		840	-9.6	0.0	8		58	3,8427		0,3,4212	no	coding-synonymous	C8orf73	NM_001100878.1		0,3,6303	TT,TC,CC		0.0356,0.0,0.0238		280/720	144652708	3,12609	2091	4215	6306	SO:0001819	synonymous_variant	0			AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.840G>A	8.37:g.144652708C>T			A8MWB1	Silent	SNP	superfamily_ARM-type_fold	p.P280	ENST00000398882.3	37	c.840	CCDS47928.1	8																																																																																			MROH6	-	NULL	ENSG00000204839		0.642	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH6	HGNC	protein_coding	OTTHUMT00000382330.3	-	0.00	25	0	C	NM_001100878		144652708	-1	tier1	rs201505046	no_errors	ENST00000398882	ensembl	human	known	74_37	silent	29.17	34	14	SNP	0.000	T
MRPS5	64969	genome.wustl.edu	37	2	95770416	95770416	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:95770416C>T	ENST00000272418.2	-	7	940	c.732G>A	c.(730-732)ttG>ttA	p.L244L		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	244	S5 DRBM. {ECO:0000255|PROSITE- ProRule:PRU00268}.				translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CCACAGCCACCAAGACACGGA	0.488																																																	0													178.0	151.0	160.0					2																	95770416		2203	4300	6503	SO:0001819	synonymous_variant	0			AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.732G>A	2.37:g.95770416C>T			Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Silent	SNP	pfam_Ribosomal_S5_C,pfam_Ribosomal_S5_N,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N	p.L244	ENST00000272418.2	37	c.732	CCDS2010.1	2																																																																																			MRPS5	-	pfam_Ribosomal_S5_N,pfscan_Ribosomal_S5_N	ENSG00000144029		0.488	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS5	HGNC	protein_coding	OTTHUMT00000252772.1	-	0.00	43	0	C	NM_031902		95770416	-1	tier1	-	no_errors	ENST00000272418	ensembl	human	known	74_37	silent	26.92	38	14	SNP	1.000	T
MT-CO1	4512	genome.wustl.edu	37	M	6038	6038	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrM:6038C>T	ENST00000361624.2	+	1	135	c.135C>T	c.(133-135)ggC>ggT	p.G45G	MT-TM_ENST00000387377.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-CO2_ENST00000361739.1_5'Flank|MT-TK_ENST00000387421.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TN_ENST00000387400.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	45					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						GGCCAGCCAGGCAACCTTCTA	0.468																																																	0																																										SO:0001819	synonymous_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.135C>T	M.37:g.6038C>T			Q34770	Silent	SNP	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.G45	ENST00000361624.2	37	c.135		MT																																																																																			MT-CO1	-	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom	ENSG00000198804		0.468	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	HGNC	protein_coding		-	0.00	249	0	C	YP_003024028		6038	+1	tier1	-	no_errors	ENST00000361624	ensembl	human	known	74_37	silent	91.78	5	67	SNP	NULL	T
MT-CO1	4512	genome.wustl.edu	37	M	6347	6347	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrM:6347C>T	ENST00000361624.2	+	1	444	c.444C>T	c.(442-444)ttC>ttT	p.F148F	MT-TM_ENST00000387377.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-CO2_ENST00000361739.1_5'Flank|MT-TK_ENST00000387421.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-TC_ENST00000387405.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TN_ENST00000387400.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	148					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CTAACCATCTTCTCCTTACAC	0.493																																																	0																																										SO:0001819	synonymous_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.444C>T	M.37:g.6347C>T			Q34770	Silent	SNP	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.F148	ENST00000361624.2	37	c.444		MT																																																																																			MT-CO1	-	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom	ENSG00000198804		0.493	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	HGNC	protein_coding		-	0.00	72	0	C	YP_003024028		6347	+1	tier1	-	no_errors	ENST00000361624	ensembl	human	known	74_37	silent	9.09	20	2	SNP	NULL	T
MT-ND1	4535	genome.wustl.edu	37	M	1131	1131	+	5'Flank	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrM:1131C>T	ENST00000361390.2	+	0	0				MT-TV_ENST00000387342.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TL1_ENST00000386347.1_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCAACAAAACTGCTCGCCAGA	0.448																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886			M.37:g.1131C>T	Exception_encountered		C0JKH6|Q37523	RNA	SNP	-	NULL	ENST00000361390.2	37	NULL		MT																																																																																			MT-RNR1	-	-	ENSG00000211459		0.448	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR1	HGNC	protein_coding		-	0.00	54	0	C	YP_003024026		1131	+1	tier1	-	no_errors	ENST00000389680	ensembl	human	known	74_37	rna	11.11	16	2	SNP	NULL	T
MT-ND5	4540	genome.wustl.edu	37	M	13643	13643	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrM:13643G>A	ENST00000361567.2	+	1	1307	c.1307G>A	c.(1306-1308)cGc>cAc	p.R436H	MT-TE_ENST00000387459.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TT_ENST00000387460.2_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-CYB_ENST00000361789.2_5'Flank			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	436					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						AGGTCAACCTCGCTTCCCCAC	0.478																																																	0																																										SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1307G>A	M.37:g.13643G>A	ENSP00000354813:p.Arg436His		Q34773|Q8WCY3	Missense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.R436H	ENST00000361567.2	37	c.1307		MT																																																																																			MT-ND5	-	pfam_NADH_DH_su5_C,tigrfam_NADHpl_OxRdtase_5	ENSG00000198786		0.478	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		-	0.00	43	0	G	YP_003024036		13643	+1	tier1	-	no_errors	ENST00000361567	ensembl	human	known	74_37	missense	100.00	0	10	SNP	NULL	A
MTIF2	4528	genome.wustl.edu	37	2	55471307	55471307	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:55471307C>G	ENST00000263629.4	-	11	1484	c.1169G>C	c.(1168-1170)gGa>gCa	p.G390A	MTIF2_ENST00000394600.3_Missense_Mutation_p.G390A|MTIF2_ENST00000403721.1_Missense_Mutation_p.G390A	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	390					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CCAACATTTTCCAGCAACCAG	0.358																																																	0													79.0	75.0	76.0					2																	55471307		2203	4300	6503	SO:0001583	missense	0			L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.1169G>C	2.37:g.55471307C>G	ENSP00000263629:p.Gly390Ala		D6W5D0	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom	p.G390A	ENST00000263629.4	37	c.1169	CCDS1853.1	2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592418	0.86953	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000418823;ENST00000535023	T;T;T;T	0.66815	-0.08;-0.08;-0.08;-0.23	5.88	5.88	0.94601	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	D	0.88610	0.6483	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91307	0.5071	10	0.87932	D	0	-24.6123	20.2381	0.98363	0.0:1.0:0.0:0.0	.	390	P46199	IF2M_HUMAN	A	390;390;390;110;390	ENSP00000384481:G390A;ENSP00000263629:G390A;ENSP00000378099:G390A;ENSP00000403492:G110A	ENSP00000263629:G390A	G	-	2	0	MTIF2	55324811	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	7.625000	0.83145	2.779000	0.95612	0.650000	0.86243	GGA	MTIF2	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel	ENSG00000085760		0.358	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTIF2	HGNC	protein_coding	OTTHUMT00000251486.4	-	0.00	104	0	C	NM_002453		55471307	-1	tier1	-	no_errors	ENST00000263629	ensembl	human	known	74_37	missense	52.94	40	45	SNP	1.000	G
MUC16	94025	genome.wustl.edu	37	19	9066597	9066597	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:9066597G>T	ENST00000397910.4	-	3	21052	c.20849C>A	c.(20848-20850)aCt>aAt	p.T6950N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6952	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTCCAGGAGTCAAGGAATA	0.448																																																	0													169.0	162.0	165.0					19																	9066597		1934	4150	6084	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20849C>A	19.37:g.9066597G>T	ENSP00000381008:p.Thr6950Asn		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.T6950N	ENST00000397910.4	37	c.20849	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.190	0.033946	0.08101	.	.	ENSG00000181143	ENST00000397910	T	0.02525	4.26	2.77	-5.31	0.02730	.	.	.	.	.	T	0.03136	0.0092	L	0.50333	1.59	.	.	.	P	0.44344	0.833	B	0.42030	0.373	T	0.18147	-1.0346	8	0.87932	D	0	.	5.4976	0.16811	0.2335:0.4956:0.2708:0.0	.	6950	B5ME49	.	N	6950	ENSP00000381008:T6950N	ENSP00000381008:T6950N	T	-	2	0	MUC16	8927597	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.607000	0.02070	-0.892000	0.03935	-0.693000	0.03709	ACT	MUC16	-	NULL	ENSG00000181143		0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	67	0	G	NM_024690		9066597	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	34.15	27	14	SNP	0.000	T
MUC16	94025	genome.wustl.edu	37	19	9076366	9076366	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:9076366T>G	ENST00000397910.4	-	3	11283	c.11080A>C	c.(11080-11082)Agt>Cgt	p.S3694R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3695	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGTCCAACTTGTACTTAAA	0.443																																																	0													98.0	94.0	95.0					19																	9076366		1955	4152	6107	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11080A>C	19.37:g.9076366T>G	ENSP00000381008:p.Ser3694Arg		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S3694R	ENST00000397910.4	37	c.11080	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	5.307	0.242014	0.10077	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	2.03	2.03	0.26663	.	.	.	.	.	T	0.02494	0.0076	N	0.08118	0	.	.	.	P	0.35208	0.49	B	0.43728	0.429	T	0.33599	-0.9862	8	0.87932	D	0	.	6.0601	0.19832	0.0:0.0:0.0:1.0	.	3694	B5ME49	.	R	3694	ENSP00000381008:S3694R	ENSP00000381008:S3694R	S	-	1	0	MUC16	8937366	0.016000	0.18221	0.016000	0.15963	0.085000	0.17905	1.839000	0.39220	1.173000	0.42796	0.260000	0.18958	AGT	MUC16	-	NULL	ENSG00000181143		0.443	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	56	0	T	NM_024690		9076366	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	29.73	26	11	SNP	0.026	G
MUC16	94025	genome.wustl.edu	37	19	9082408	9082408	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:9082408C>T	ENST00000397910.4	-	1	9610	c.9407G>A	c.(9406-9408)aGa>aAa	p.R3136K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3137	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTCTTTCTTCTGGCTGTGGG	0.493																																																	0													182.0	185.0	184.0					19																	9082408		1911	4133	6044	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9407G>A	19.37:g.9082408C>T	ENSP00000381008:p.Arg3136Lys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.R3136K	ENST00000397910.4	37	c.9407	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	3.281	-0.146972	0.06627	.	.	ENSG00000181143	ENST00000397910	T	0.02579	4.24	0.541	-1.08	0.09936	.	.	.	.	.	T	0.01627	0.0052	N	0.08118	0	.	.	.	B	0.14438	0.01	B	0.11329	0.006	T	0.43147	-0.9409	7	0.87932	D	0	.	.	.	.	.	3136	B5ME49	.	K	3136	ENSP00000381008:R3136K	ENSP00000381008:R3136K	R	-	2	0	MUC16	8943408	0.002000	0.14202	0.000000	0.03702	0.055000	0.15305	-0.330000	0.07925	-0.450000	0.07107	0.313000	0.20887	AGA	MUC16	-	NULL	ENSG00000181143		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	87	0	C	NM_024690		9082408	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	26.79	41	15	SNP	0.000	T
MUC19	283463	genome.wustl.edu	37	12	40821797	40821797	+	Silent	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:40821797G>A	ENST00000454784.4	+	13	1279	c.546G>A	c.(544-546)gaG>gaA	p.E182E	RP11-115F18.1_ENST00000552757.1_RNA			Q7Z5P9	MUC19_HUMAN	mucin 19, oligomeric	182					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				lung(2)	2						ACATTGGAGAGAAAGGAAAAT	0.408																																																	0																																										SO:0001819	synonymous_variant	0			AY236870		12q12	2012-04-20	2006-03-14		ENSG00000205592	ENSG00000205592		"""Mucins"""	14362	protein-coding gene	gene with protein product		612170				12882755	Standard	NM_173600		Approved	FLJ35746	uc021qxa.1	Q7Z5P9	OTTHUMG00000060732	ENST00000454784.4:c.546G>A	12.37:g.40821797G>A			Q8NA85	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich	p.E182	ENST00000454784.4	37	c.546		12																																																																																			MUC19	-	pfam_TIL_dom,superfamily_TIL_dom	ENSG00000205592		0.408	MUC19-001	NOVEL	non_canonical_conserved|non_canonical_genome_sequence_error|basic|appris_principal	protein_coding	MUC19	HGNC	protein_coding	OTTHUMT00000384257.6	-	0.00	74	0	G	XM_003403524		40821797	+1	tier1	-	no_errors	ENST00000454784	ensembl	human	novel	74_37	silent	28.57	60	24	SNP	0.999	A
MUC6	4588	genome.wustl.edu	37	11	1024951	1024951	+	Missense_Mutation	SNP	C	C	T	rs573979427		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:1024951C>T	ENST00000421673.2	-	24	3168	c.3118G>A	c.(3118-3120)Gtg>Atg	p.V1040M		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1040	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGAAGCTCACGTCCCCGCAC	0.627																																																	0													41.0	49.0	46.0					11																	1024951		2127	4236	6363	SO:0001583	missense	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.3118G>A	11.37:g.1024951C>T	ENSP00000406861:p.Val1040Met		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.V1040M	ENST00000421673.2	37	c.3118	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238265	0.39598	.	.	ENSG00000184956	ENST00000421673	T	0.19669	2.13	3.88	-1.3	0.09259	von Willebrand factor, type D domain (1);	1.009810	0.08009	U	0.990077	T	0.19248	0.0462	M	0.73598	2.24	0.09310	N	0.999997	P	0.45569	0.861	B	0.29353	0.101	T	0.31138	-0.9954	10	0.66056	D	0.02	.	9.5472	0.39288	0.0:0.6001:0.0:0.3999	.	1040	Q6W4X9	MUC6_HUMAN	M	1040	ENSP00000406861:V1040M	ENSP00000406861:V1040M	V	-	1	0	MUC6	1014951	0.004000	0.15560	0.001000	0.08648	0.634000	0.38068	0.395000	0.20850	-0.121000	0.11787	0.561000	0.74099	GTG	MUC6	-	NULL	ENSG00000184956		0.627	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	-	0.00	51	0	C	XM_290540		1024951	-1	tier1	-	no_errors	ENST00000421673	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.516	T
MUC2	4583	genome.wustl.edu	37	11	1085959	1085959	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:1085959C>T	ENST00000441003.2	+	22	2826	c.2799C>T	c.(2797-2799)gaC>gaT	p.D933D	MUC2_ENST00000359061.5_Silent_p.D933D	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	933	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGTTGGAAGACAAGCACCGTG	0.662																																																	0													54.0	61.0	58.0					11																	1085959		2123	4220	6343	SO:0001819	synonymous_variant	0			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.2799C>T	11.37:g.1085959C>T			Q14878	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.D933	ENST00000441003.2	37	c.2799		11																																																																																			MUC2	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000198788		0.662	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	-	0.00	32	0	C	NM_002457		1085959	+1	tier1	-	no_errors	ENST00000441003	ensembl	human	known	74_37	silent	36.84	12	7	SNP	0.018	T
MYBPC1	4604	genome.wustl.edu	37	12	102041837	102041837	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:102041837G>C	ENST00000550270.1	+	12	1030	c.1030G>C	c.(1030-1032)Gtg>Ctg	p.V344L	MYBPC1_ENST00000360610.2_Missense_Mutation_p.V344L|MYBPC1_ENST00000361685.2_Missense_Mutation_p.V369L|MYBPC1_ENST00000547405.1_Missense_Mutation_p.V318L|MYBPC1_ENST00000361466.2_Missense_Mutation_p.V369L|MYBPC1_ENST00000553190.1_Missense_Mutation_p.V344L|MYBPC1_ENST00000547509.1_Missense_Mutation_p.V330L|MYBPC1_ENST00000452455.2_Missense_Mutation_p.V344L|MYBPC1_ENST00000392934.3_Missense_Mutation_p.V331L|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000549145.1_Missense_Mutation_p.V357L|MYBPC1_ENST00000441232.1_Missense_Mutation_p.V344L|MYBPC1_ENST00000545503.2_Missense_Mutation_p.V344L|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.V325L|MYBPC1_ENST00000541119.1_Missense_Mutation_p.V332L|MYBPC1_ENST00000551300.1_Missense_Mutation_p.V245L|RP11-755O11.2_ENST00000547027.1_RNA			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	344	Ig-like C2-type 3.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TCCAATTATGGTGACCAAACA	0.393																																																	0													147.0	136.0	140.0					12																	102041837		2203	4300	6503	SO:0001583	missense	0				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.1030G>C	12.37:g.102041837G>C	ENSP00000449702:p.Val344Leu		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V369L	ENST00000550270.1	37	c.1105	CCDS9085.1	12	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237870	0.79800	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.96	5.07	0.68467	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.46442	D	0.000283	T	0.69433	0.3110	L	0.33093	0.98	0.41747	D	0.989647	P;P;B;P;P;P;P;P;B;P;P	0.46859	0.885;0.832;0.256;0.885;0.73;0.603;0.684;0.885;0.086;0.861;0.861	P;B;B;B;P;P;B;P;B;B;P	0.53760	0.734;0.422;0.145;0.422;0.491;0.513;0.297;0.491;0.131;0.297;0.495	T	0.73748	-0.3885	10	0.72032	D	0.01	.	16.6211	0.84930	0.0:0.0:0.8688:0.1312	.	325;332;344;344;331;318;344;344;369;369;357	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	L	318;344;344;344;331;330;369;357;344;369;344;325;332;369;245;344	ENSP00000448175:V318L;ENSP00000400908:V344L;ENSP00000388989:V344L;ENSP00000353822:V344L;ENSP00000376665:V331L;ENSP00000447362:V330L;ENSP00000354845:V369L;ENSP00000447660:V357L;ENSP00000447900:V344L;ENSP00000440034:V344L;ENSP00000446128:V325L;ENSP00000442847:V332L;ENSP00000354849:V369L;ENSP00000447116:V245L;ENSP00000449702:V344L	ENSP00000353822:V344L	V	+	1	0	MYBPC1	100565968	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.759000	0.68785	1.519000	0.48950	0.655000	0.94253	GTG	MYBPC1	-	pfam_Ig_I-set,pfscan_Ig-like_dom	ENSG00000196091		0.393	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBPC1	HGNC	protein_coding	OTTHUMT00000408806.1	-	0.00	44	0	G			102041837	+1	tier1	-	no_errors	ENST00000361466	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	C
MYC	4609	genome.wustl.edu	37	8	128751156	128751156	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:128751156C>T	ENST00000259523.6	+	2	1853	c.648C>T	c.(646-648)ttC>ttT	p.F216F	MYC_ENST00000524013.1_Silent_p.F230F|MYC_ENST00000377970.2_Silent_p.F231F			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	216					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|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 transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.F216F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	CCAGCGCCTTCTCTCCGTCCT	0.672		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""																																			Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"""L, E"""	1	Substitution - coding silent(1)	ovary(1)											39.0	36.0	37.0					8																	128751156		2066	4118	6184	SO:0001819	synonymous_variant	0				CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.648C>T	8.37:g.128751156C>T			A8WFE7|P01107|Q14026	Silent	SNP	pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc	p.F231	ENST00000259523.6	37	c.693		8																																																																																			MYC	-	pfam_Tscrpt_reg_Myc_N	ENSG00000136997		0.672	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	MYC	HGNC	protein_coding	OTTHUMT00000250278.1	-	0.00	29	0	C			128751156	+1	tier1	-	no_errors	ENST00000377970	ensembl	human	known	74_37	silent	51.61	15	16	SNP	1.000	T
MYH13	8735	genome.wustl.edu	37	17	10204947	10204947	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:10204947G>T	ENST00000418404.3	-	39	5904	c.5741C>A	c.(5740-5742)gCg>gAg	p.A1914E	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.A1914E			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1914					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGCGATGTCCGCCCTCTCCGC	0.612																																																	0													83.0	89.0	87.0					17																	10204947		2203	4300	6503	SO:0001583	missense	0			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5741C>A	17.37:g.10204947G>T	ENSP00000404570:p.Ala1914Glu		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1914E	ENST00000418404.3	37	c.5741	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	G	17.86	3.491758	0.64074	.	.	ENSG00000006788	ENST00000252172	D	0.82167	-1.58	3.76	3.76	0.43208	Myosin tail (1);	.	.	.	.	D	0.94387	0.8195	H	0.98218	4.175	0.50039	D	0.999846	D	0.89917	1.0	D	0.85130	0.997	D	0.96712	0.9526	9	0.87932	D	0	.	16.1271	0.81402	0.0:0.0:1.0:0.0	.	1914	Q9UKX3	MYH13_HUMAN	E	1914	ENSP00000252172:A1914E	ENSP00000252172:A1914E	A	-	2	0	MYH13	10145672	1.000000	0.71417	0.549000	0.28204	0.168000	0.22595	9.544000	0.98092	2.097000	0.63578	0.484000	0.47621	GCG	MYH13	-	pfam_Myosin_tail	ENSG00000006788		0.612	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	-	0.00	73	0	G	NM_003802		10204947	-1	tier1	-	no_errors	ENST00000252172	ensembl	human	known	74_37	missense	69.05	12	29	SNP	0.999	T
MYH1	4619	genome.wustl.edu	37	17	10398269	10398269	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:10398269C>A	ENST00000226207.5	-	37	5539	c.5445G>T	c.(5443-5445)caG>caT	p.Q1815H	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1815					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTTTCTGGATCTGCTTCTTCC	0.512																																																	0													134.0	133.0	133.0					17																	10398269		2203	4300	6503	SO:0001583	missense	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5445G>T	17.37:g.10398269C>A	ENSP00000226207:p.Gln1815His		Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1815H	ENST00000226207.5	37	c.5445	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145309	0.77888	.	.	ENSG00000109061	ENST00000226207	T	0.78816	-1.21	5.26	4.28	0.50868	Myosin tail (1);	0.000000	0.40908	U	0.000982	D	0.82518	0.5054	M	0.91510	3.215	0.48341	D	0.999638	B	0.23990	0.095	B	0.30105	0.111	D	0.83467	0.0057	10	0.56958	D	0.05	.	13.3575	0.60635	0.0:0.8699:0.0:0.1301	.	1815	P12882	MYH1_HUMAN	H	1815	ENSP00000226207:Q1815H	ENSP00000226207:Q1815H	Q	-	3	2	MYH1	10338994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.578000	0.36525	2.616000	0.88540	0.561000	0.74099	CAG	MYH1	-	pfam_Myosin_tail	ENSG00000109061		0.512	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	-	0.00	95	0	C	NM_005963		10398269	-1	tier1	-	no_errors	ENST00000226207	ensembl	human	known	74_37	missense	31.75	43	20	SNP	1.000	A
MYO1B	4430	genome.wustl.edu	37	2	192160886	192160886	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:192160886C>A	ENST00000392318.3	+	3	432	c.185C>A	c.(184-186)cCc>cAc	p.P62H	MYO1B_ENST00000339514.4_Missense_Mutation_p.P62H|MYO1B_ENST00000304164.4_Missense_Mutation_p.P62H|MYO1B_ENST00000392316.1_Missense_Mutation_p.P62H	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	62	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CGGTCTTTACCCATTTATTCA	0.348																																																	0													138.0	125.0	130.0					2																	192160886		2203	4300	6503	SO:0001583	missense	0			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.185C>A	2.37:g.192160886C>A	ENSP00000376132:p.Pro62His		O43794|Q7Z6L5	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.P62H	ENST00000392318.3	37	c.185	CCDS46477.1	2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076396	0.76415	.	.	ENSG00000128641	ENST00000418908;ENST00000339514;ENST00000439452;ENST00000392318;ENST00000304164;ENST00000438652;ENST00000451437;ENST00000420448;ENST00000392316	T;T;T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	5.27	5.27	0.74061	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.87337	0.6152	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.68943	0.958;0.961	D	0.88757	0.3254	10	0.72032	D	0.01	.	19.2374	0.93866	0.0:1.0:0.0:0.0	.	62;62	O43795;O43795-2	MYO1B_HUMAN;.	H	62	ENSP00000401324:P62H;ENSP00000341903:P62H;ENSP00000376132:P62H;ENSP00000306382:P62H;ENSP00000399459:P62H;ENSP00000388140:P62H;ENSP00000387610:P62H;ENSP00000376130:P62H	ENSP00000306382:P62H	P	+	2	0	MYO1B	191869131	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.580000	0.82523	2.625000	0.88918	0.579000	0.79373	CCC	MYO1B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000128641		0.348	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1B	HGNC	protein_coding	OTTHUMT00000334774.1	-	0.00	75	0	C	NM_012223		192160886	+1	tier1	-	no_errors	ENST00000304164	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	A
MYO1D	4642	genome.wustl.edu	37	17	31091907	31091907	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:31091907C>T	ENST00000318217.5	-	8	1328	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T	MYO1D_ENST00000394649.4_Missense_Mutation_p.A254T|MYO1D_ENST00000583621.1_Missense_Mutation_p.A342T|MYO1D_ENST00000579584.1_Missense_Mutation_p.A342T	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	342	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TTGGCAAAGGCGTCTCTGCCG	0.493																																																	0													196.0	162.0	173.0					17																	31091907		2203	4300	6503	SO:0001583	missense	0			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.1024G>A	17.37:g.31091907C>T	ENSP00000324527:p.Ala342Thr		A6H8V3|Q8NHP9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A342T	ENST00000318217.5	37	c.1024	CCDS32615.1	17	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036327	0.93630	.	.	ENSG00000176658	ENST00000318217	D	0.89875	-2.58	5.93	5.93	0.95920	Myosin head, motor domain (2);	0.000000	0.39274	U	0.001415	D	0.95806	0.8635	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.96171	0.9123	10	0.87932	D	0	.	17.8445	0.88725	0.0:1.0:0.0:0.0	.	253;342	Q7Z3N6;O94832	.;MYO1D_HUMAN	T	342	ENSP00000324527:A342T	ENSP00000324527:A342T	A	-	1	0	MYO1D	28116020	1.000000	0.71417	0.982000	0.44146	0.685000	0.39939	7.487000	0.81328	2.808000	0.96608	0.655000	0.94253	GCC	MYO1D	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000176658		0.493	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1D	HGNC	protein_coding	OTTHUMT00000447457.1	-	0.00	53	0	C			31091907	-1	tier1	-	no_errors	ENST00000318217	ensembl	human	known	74_37	missense	32.81	43	21	SNP	1.000	T
MYOF	26509	genome.wustl.edu	37	10	95163809	95163809	+	Missense_Mutation	SNP	G	G	A	rs12262721	byFrequency	TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:95163809G>A	ENST00000359263.4	-	9	813	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	MYOF_ENST00000371502.4_Missense_Mutation_p.R272W|MYOF_ENST00000358334.5_Missense_Mutation_p.R272W|MYOF_ENST00000371489.1_Missense_Mutation_p.R272W|MYOF_ENST00000371501.4_Missense_Mutation_p.R272W	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	272	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Necessary for interaction with EHD2.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAATCTGCCCGCAGAGAGTGA	0.423																																																	0													119.0	109.0	113.0					10																	95163809		1889	4123	6012	SO:0001583	missense	0			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.814C>T	10.37:g.95163809G>A	ENSP00000352208:p.Arg272Trp		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.R272W	ENST00000359263.4	37	c.814	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837370	0.71373	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502;ENST00000371489	T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42	6.08	-0.0607	0.13788	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.90662	0.7071	M	0.89904	3.07	0.09310	P	0.99999948992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.92676	0.6154	9	0.56958	D	0.05	-17.5056	17.6887	0.88263	0.0:0.0:0.4703:0.5297	.	254;272;272	Q9NZM1-8;Q9NZM1-6;Q9NZM1	.;.;MYOF_HUMAN	W	272	ENSP00000351094:R272W;ENSP00000352208:R272W;ENSP00000360556:R272W;ENSP00000360557:R272W;ENSP00000360544:R272W	ENSP00000351094:R272W	R	-	1	2	MYOF	95153799	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	1.699000	0.37804	0.085000	0.17107	-0.152000	0.13540	CGG	MYOF	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000138119		0.423	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	-	0.00	45	0	G	NM_013451		95163809	-1	tier1	-	no_errors	ENST00000359263	ensembl	human	known	74_37	missense	22.22	28	8	SNP	0.994	A
NAALADL2	254827	genome.wustl.edu	37	3	175520935	175520935	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:175520935G>T	ENST00000454872.1	+	14	2460	c.2332G>T	c.(2332-2334)Gtt>Ttt	p.V778F		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	778						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TTCAGCTCAGGTTTACTTCAA	0.403																																																	0													104.0	98.0	100.0					3																	175520935		1831	4088	5919	SO:0001583	missense	0				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.2332G>T	3.37:g.175520935G>T	ENSP00000404705:p.Val778Phe		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	superfamily_TFR-like_dimer_dom	p.V778F	ENST00000454872.1	37	c.2332	CCDS46960.1	3	.	.	.	.	.	.	.	.	.	.	G	4.394	0.072688	0.08436	.	.	ENSG00000177694	ENST00000454872	T	0.29397	1.57	5.6	3.78	0.43462	Transferrin receptor-like, dimerisation domain (1);	1.056540	0.07450	N	0.898814	T	0.20007	0.0481	L	0.27053	0.805	0.26389	N	0.976617	P	0.50272	0.933	B	0.39876	0.312	T	0.02553	-1.1142	10	0.09084	T	0.74	-11.4544	9.2155	0.37344	0.0741:0.2771:0.6488:0.0	.	778	Q58DX5	NADL2_HUMAN	F	778	ENSP00000404705:V778F	ENSP00000404705:V778F	V	+	1	0	NAALADL2	177003629	1.000000	0.71417	0.998000	0.56505	0.015000	0.08874	2.967000	0.49216	0.696000	0.31696	0.573000	0.79308	GTT	NAALADL2	-	superfamily_TFR-like_dimer_dom	ENSG00000177694		0.403	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL2	HGNC	protein_coding	OTTHUMT00000347390.2		0.00	52	0	G	NM_207015		175520935	+1			no_errors	ENST00000454872	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T
NBEA	26960	genome.wustl.edu	37	13	36245077	36245077	+	Silent	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr13:36245077T>C	ENST00000400445.3	+	58	9324	c.8790T>C	c.(8788-8790)gcT>gcC	p.A2930A	NBEA_ENST00000310336.4_Silent_p.A2930A|NBEA_ENST00000379922.3_Silent_p.A508A|NBEA_ENST00000540320.1_Silent_p.A2930A|NBEA_ENST00000379939.2_Silent_p.A2927A|NBEA_ENST00000537702.1_Silent_p.A723A	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2930					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)		GCATTGTAGCTTTTAATATAG	0.378																																																	0													82.0	73.0	76.0					13																	36245077		1860	4113	5973	SO:0001819	synonymous_variant	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.8790T>C	13.37:g.36245077T>C			B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.A2930	ENST00000400445.3	37	c.8790	CCDS45026.1	13																																																																																			NBEA	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000172915		0.378	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		-	0.00	36	0	T	NM_015678		36245077	+1	tier1	-	no_errors	ENST00000310336	ensembl	human	known	74_37	silent	57.14	3	4	SNP	1.000	C
NBEAL1	65065	genome.wustl.edu	37	2	204048019	204048019	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:204048019C>G	ENST00000449802.1	+	43	6859	c.6526C>G	c.(6526-6528)Cta>Gta	p.L2176V		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2176	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.									NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTTGGGTCGTCTACAGATTTC	0.313																																																	0													84.0	82.0	83.0					2																	204048019		1790	4055	5845	SO:0001583	missense	0			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6526C>G	2.37:g.204048019C>G	ENSP00000399903:p.Leu2176Val		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L2176V	ENST00000449802.1	37	c.6526	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264226	0.59431	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.77098	-1.07;-1.07	5.93	3.12	0.35913	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.86932	0.6052	M	0.82517	2.595	0.47341	D	0.999399	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.998	D	0.86476	0.1788	10	0.52906	T	0.07	.	10.6552	0.45671	0.0:0.7857:0.0:0.2143	.	2176;2165	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	V	2176;2176;191	ENSP00000399903:L2176V;ENSP00000388466:L191V	ENSP00000344985:L2176V	L	+	1	2	NBEAL1	203756264	0.564000	0.26602	0.627000	0.29227	0.957000	0.61999	1.097000	0.30988	0.816000	0.34421	0.585000	0.79938	CTA	NBEAL1	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom	ENSG00000144426		0.313	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	-	0.00	55	0	C			204048019	+1	tier1	-	no_errors	ENST00000449802	ensembl	human	known	74_37	missense	50.00	28	28	SNP	0.577	G
NDST3	9348	genome.wustl.edu	37	4	119026255	119026255	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:119026255A>G	ENST00000296499.5	+	3	1467	c.1064A>G	c.(1063-1065)cAt>cGt	p.H355R	NDST3_ENST00000433996.2_Intron	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	355	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AAATTTTACCATACAGGTAAG	0.368																																																	0													99.0	109.0	106.0					4																	119026255		2203	4298	6501	SO:0001583	missense	0			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1064A>G	4.37:g.119026255A>G	ENSP00000296499:p.His355Arg		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.H355R	ENST00000296499.5	37	c.1064	CCDS3708.1	4	.	.	.	.	.	.	.	.	.	.	A	20.8	4.046819	0.75846	.	.	ENSG00000164100	ENST00000296499	T	0.36699	1.24	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.53270	0.1786	L	0.57536	1.79	0.80722	D	1	P	0.45126	0.851	P	0.60173	0.87	T	0.46569	-0.9182	10	0.31617	T	0.26	.	15.359	0.74453	1.0:0.0:0.0:0.0	.	355	O95803	NDST3_HUMAN	R	355	ENSP00000296499:H355R	ENSP00000296499:H355R	H	+	2	0	NDST3	119245703	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	9.105000	0.94246	2.026000	0.59711	0.455000	0.32223	CAT	NDST3	-	pfam_Heparan_SO4_deacetylase	ENSG00000164100		0.368	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	HGNC	protein_coding	OTTHUMT00000256517.4	-	0.00	65	0	A	NM_004784		119026255	+1	tier1	-	no_errors	ENST00000296499	ensembl	human	known	74_37	missense	22.58	48	14	SNP	1.000	G
NEB	4703	genome.wustl.edu	37	2	152492780	152492780	+	Intron	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:152492780G>T	ENST00000172853.10	-	62	9037				NEB_ENST00000409198.1_Intron|NEB_ENST00000604864.1_Silent_p.P3021P|NEB_ENST00000397345.3_Silent_p.P3021P|NEB_ENST00000427231.2_Silent_p.P3021P|NEB_ENST00000603639.1_Silent_p.P3021P			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCGCCACGATGGGGATGGCGT	0.443																																																	0													115.0	115.0	115.0					2																	152492780		692	1591	2283	SO:0001627	intron_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8889+3590C>A	2.37:g.152492780G>T			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.P3021	ENST00000172853.10	37	c.9063		2																																																																																			NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.443	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0.00	54	0	G	NM_004543		152492780	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	silent	7.41	50	4	SNP	0.571	T
NELL2	4753	genome.wustl.edu	37	12	45269600	45269600	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:45269600G>T	ENST00000429094.2	-	1	557	c.53C>A	c.(52-54)gCa>gAa	p.A18E	NELL2_ENST00000395487.2_5'Flank|NELL2_ENST00000333837.4_Missense_Mutation_p.A41E|NELL2_ENST00000437801.2_Missense_Mutation_p.A68E|NELL2_ENST00000549027.1_5'UTR|NELL2_ENST00000551601.1_5'UTR|NELL2_ENST00000548826.1_Missense_Mutation_p.A18E|NELL2_ENST00000452445.2_Missense_Mutation_p.A18E	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	18						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CCACTCACCTGCTCCGAGACC	0.567																																																	0													82.0	89.0	87.0					12																	45269600		2203	4300	6503	SO:0001583	missense	0			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.53C>A	12.37:g.45269600G>T	ENSP00000390680:p.Ala18Glu		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.A68E	ENST00000429094.2	37	c.203	CCDS8746.1	12	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616560	0.66672	.	.	ENSG00000184613	ENST00000429094;ENST00000452445;ENST00000333837;ENST00000437801;ENST00000552993;ENST00000548826;ENST00000551949	T;T;T;D;T;T;T	0.82167	-1.48;-1.48;-1.46;-1.58;2.73;1.51;-1.02	4.95	4.95	0.65309	.	0.146846	0.43747	D	0.000539	T	0.77405	0.4125	L	0.48642	1.525	0.80722	D	1	B;B;P;B	0.37525	0.141;0.002;0.598;0.0	B;B;B;B	0.29176	0.063;0.002;0.099;0.001	T	0.80919	-0.1167	10	0.66056	D	0.02	-7.6534	17.3194	0.87232	0.0:0.0:1.0:0.0	.	41;68;18;18	B7Z2U7;B7Z9U3;B3KTI3;Q99435	.;.;.;NELL2_HUMAN	E	18;18;41;68;18;18;18	ENSP00000390680:A18E;ENSP00000394612:A18E;ENSP00000327988:A41E;ENSP00000416341:A68E;ENSP00000447085:A18E;ENSP00000448635:A18E;ENSP00000446961:A18E	ENSP00000327988:A41E	A	-	2	0	NELL2	43555867	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.446000	0.66600	2.442000	0.82660	0.650000	0.86243	GCA	NELL2	-	NULL	ENSG00000184613		0.567	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	-	0.00	80	0	G	NM_006159		45269600	-1	tier1	-	no_errors	ENST00000437801	ensembl	human	known	74_37	missense	55.22	30	37	SNP	1.000	T
NEMF	9147	genome.wustl.edu	37	14	50267199	50267199	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr14:50267199C>A	ENST00000298310.5	-	23	2760	c.2311G>T	c.(2311-2313)Ggg>Tgg	p.G771W	NEMF_ENST00000546046.1_Missense_Mutation_p.G750W|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000545773.1_Missense_Mutation_p.G729W			O60524	NEMF_HUMAN	nuclear export mediator factor	771					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						GTCTCTTCCCCTTCATCCTTC	0.353																																																	0													144.0	128.0	134.0					14																	50267199		2203	4300	6503	SO:0001583	missense	0			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2311G>T	14.37:g.50267199C>A	ENSP00000298310:p.Gly771Trp		A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom	p.G771W	ENST00000298310.5	37	c.2311	CCDS9694.1	14	.	.	.	.	.	.	.	.	.	.	C	14.27	2.486582	0.44249	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.45276	0.92;0.91;0.9;0.9	5.37	3.35	0.38373	.	0.446922	0.23554	N	0.046935	T	0.40347	0.1113	N	0.22421	0.69	0.80722	D	1	P;P;P;P	0.51653	0.912;0.891;0.947;0.857	B;P;P;B	0.54856	0.35;0.588;0.762;0.191	T	0.33059	-0.9883	10	0.66056	D	0.02	-1.1336	9.9372	0.41559	0.1779:0.7383:0.0:0.0838	.	750;746;729;771	O60524-3;O60524-5;O60524-4;O60524	.;.;.;NEMF_HUMAN	W	771;729;750;543;729	ENSP00000298310:G771W;ENSP00000438309:G729W;ENSP00000441016:G750W;ENSP00000452540:G729W	ENSP00000298310:G771W	G	-	1	0	NEMF	49336949	0.905000	0.30787	0.996000	0.52242	0.928000	0.56348	2.305000	0.43664	1.286000	0.44565	0.460000	0.39030	GGG	NEMF	-	NULL	ENSG00000165525		0.353	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEMF	HGNC	protein_coding	OTTHUMT00000410798.1	-	0.00	70	0	C	NM_004713		50267199	-1	tier1	-	no_errors	ENST00000298310	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.958	A
NEO1	4756	genome.wustl.edu	37	15	73547143	73547143	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:73547143G>T	ENST00000339362.5	+	14	2512	c.2065G>T	c.(2065-2067)Ggg>Tgg	p.G689W	NEO1_ENST00000261908.6_Missense_Mutation_p.G689W|RP11-272D12.2_ENST00000560337.1_RNA|NEO1_ENST00000558964.1_Missense_Mutation_p.G689W|NEO1_ENST00000560262.1_Missense_Mutation_p.G689W			Q92859	NEO1_HUMAN	neogenin 1	689	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTTGGTAAGCGGGACACAGCT	0.483																																																	0													119.0	111.0	114.0					15																	73547143		2198	4297	6495	SO:0001583	missense	0			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.2065G>T	15.37:g.73547143G>T	ENSP00000341198:p.Gly689Trp		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G689W	ENST00000339362.5	37	c.2065	CCDS10247.1	15	.	.	.	.	.	.	.	.	.	.	g	26.7	4.761240	0.89932	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.59364	0.27;0.27	5.23	5.23	0.72850	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.098604	0.64402	D	0.000001	D	0.83335	0.5232	H	0.94847	3.59	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.96;1.0	D;D;D;D	0.97110	0.996;1.0;0.994;0.998	D	0.88007	0.2760	10	0.66056	D	0.02	-6.2985	18.8282	0.92127	0.0:0.0:1.0:0.0	.	689;689;427;689	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	W	689;427;689	ENSP00000341198:G689W;ENSP00000261908:G689W	ENSP00000261908:G689W	G	+	1	0	NEO1	71334196	1.000000	0.71417	0.487000	0.27428	0.989000	0.77384	7.865000	0.87049	2.438000	0.82558	0.655000	0.94253	GGG	NEO1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000067141		0.483	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEO1	HGNC	protein_coding	OTTHUMT00000257472.2	-	0.00	46	0	G	NM_002499		73547143	+1	tier1	-	no_errors	ENST00000261908	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.999	T
NFATC1	4772	genome.wustl.edu	37	18	77170490	77170490	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr18:77170490delT	ENST00000427363.2	+	2	215	c.215delT	c.(214-216)cttfs	p.L72fs	NFATC1_ENST00000318065.5_Frame_Shift_Del_p.L59fs|NFATC1_ENST00000586434.1_Frame_Shift_Del_p.L59fs|NFATC1_ENST00000592223.1_Frame_Shift_Del_p.L59fs|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Frame_Shift_Del_p.L72fs|NFATC1_ENST00000542384.1_Frame_Shift_Del_p.L72fs|NFATC1_ENST00000591814.1_Frame_Shift_Del_p.L72fs|NFATC1_ENST00000329101.4_Frame_Shift_Del_p.L59fs|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000253506.5_Frame_Shift_Del_p.L72fs			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	72					calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	TGCCACAACCTTCAGACCTCC	0.667																																					GBM(151;1210 2593 28719 45011)												0													56.0	63.0	61.0					18																	77170490		2203	4299	6502	SO:0001589	frameshift_variant	0			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.215delT	18.37:g.77170490delT	ENSP00000389377:p.Leu72fs		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Frame_Shift_Del	DEL	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.Q73fs	ENST00000427363.2	37	c.215		18																																																																																			NFATC1	-	NULL	ENSG00000131196		0.667	NFATC1-007	KNOWN	basic	protein_coding	NFATC1	HGNC	protein_coding	OTTHUMT00000450507.1		0.00	50	0	T	NM_172390		77170490	+1	tier1		no_errors	ENST00000427363	ensembl	human	known	74_37	frame_shift_del	11.76	15	2	DEL	0.993	-
ARMC8	25852	genome.wustl.edu	37	3	137981408	137981408	+	Intron	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:137981408T>C	ENST00000469044.1	+	13	1405				ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000491704.1_Intron|ARMC8_ENST00000393058.3_Intron|ARMC8_ENST00000538260.1_Intron|ARMC8_ENST00000485396.1_Intron|NME9_ENST00000484930.1_Missense_Mutation_p.R254G|NME9_ENST00000341790.5_Missense_Mutation_p.R254G|NME9_ENST00000317876.4_Missense_Mutation_p.R256G|NME9_ENST00000383180.2_Missense_Mutation_p.R256G|NME9_ENST00000536478.1_Missense_Mutation_p.R256G|ARMC8_ENST00000481646.1_Intron	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8											endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						atcttcaaccttggctgtgta	0.403																																																	0													111.0	102.0	105.0					3																	137981408		2203	4300	6503	SO:0001627	intron_variant	0				CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1135-1173T>C	3.37:g.137981408T>C			A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase	p.R256G	ENST00000469044.1	37	c.766		3	.	.	.	.	.	.	.	.	.	.	T	8.291	0.817755	0.16607	.	.	ENSG00000181322	ENST00000383180;ENST00000317876;ENST00000484930;ENST00000341790;ENST00000536478	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	3.07	0.535	0.17133	.	.	.	.	.	T	0.33177	0.0854	.	.	.	0.09310	N	1	B;B	0.22146	0.065;0.065	B;B	0.22152	0.038;0.038	T	0.26950	-1.0088	8	0.52906	T	0.07	.	5.7181	0.17972	0.4426:0.0:0.0:0.5574	.	254;256	Q86XW9-3;Q86XW9-2	.;.	G	256;256;254;254;256	ENSP00000372667:R256G;ENSP00000321929:R256G;ENSP00000419882:R254G;ENSP00000341084:R254G;ENSP00000440143:R256G	ENSP00000321929:R256G	R	-	1	2	TXNDC6	139464098	0.002000	0.14202	0.001000	0.08648	0.383000	0.30230	0.332000	0.19751	0.100000	0.17581	0.528000	0.53228	AGG	NME9	-	NULL	ENSG00000181322		0.403	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	NME9	HGNC	protein_coding	OTTHUMT00000357560.1	-	0.00	61	0	T	NM_015396		137981408	-1	tier1	-	no_errors	ENST00000317876	ensembl	human	known	74_37	missense	54.55	20	24	SNP	0.001	C
NOD2	64127	genome.wustl.edu	37	16	50745331	50745331	+	Frame_Shift_Del	DEL	G	G	-	rs104895434		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:50745331delG	ENST00000300589.2	+	4	1614	c.1509delG	c.(1507-1509)gagfs	p.E503fs	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	503	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TGCTGCAGGAGGGGGGGTCCC	0.577																																																	0										5,4259		0,5,2127	63.0	65.0	64.0			0.5	0.0	16		64	7,8245		0,7,4119	no	frameshift	NOD2	NM_022162.1		0,12,6246	A1A1,A1R,RR		0.0848,0.1173,0.0959			50745331	12,12504	2198	4300	6498	SO:0001589	frameshift_variant	0			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1509delG	16.37:g.50745331delG	ENSP00000300589:p.Glu503fs		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Frame_Shift_Del	DEL	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.S506fs	ENST00000300589.2	37	c.1509	CCDS10746.1	16																																																																																			NOD2	-	NULL	ENSG00000167207		0.577	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD2	HGNC	protein_coding	OTTHUMT00000256876.2		0.00	16	0	G	NM_022162		50745331	+1	tier1		no_errors	ENST00000300589	ensembl	human	known	74_37	frame_shift_del	27.27	8	3	DEL	0.001	-
NOP56	10528	genome.wustl.edu	37	20	2638078	2638078	+	Intron	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:2638078G>T	ENST00000329276.5	+	11	1935				SNORD57_ENST00000448188.1_RNA|SNORD86_ENST00000391196.1_RNA|SNORA51_ENST00000606420.1_RNA|SNORD56_ENST00000413522.1_RNA|NOP56_ENST00000492135.1_Intron|IDH3B_ENST00000488299.1_5'Flank	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein						cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GCTCACACCCGTTCCCTGGGC	0.512																																																	0																																										SO:0001627	intron_variant	0			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.1419+214G>T	20.37:g.2638078G>T			Q2M3T6|Q9NQ05	RNA	SNP	-	NULL	ENST00000329276.5	37	NULL	CCDS13030.1	20																																																																																			NOP56	-	-	ENSG00000101361		0.512	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP56	HGNC	protein_coding	OTTHUMT00000077631.2	-	0.00	36	0	G	NM_006392		2638078	+1	tier1	-	no_errors	ENST00000466447	ensembl	human	known	74_37	rna	8.33	44	4	SNP	0.001	T
NOVA1	4857	genome.wustl.edu	37	14	26917799	26917799	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr14:26917799A>C	ENST00000539517.2	-	5	1207	c.890T>G	c.(889-891)gTt>gGt	p.V297G	NOVA1_ENST00000465357.2_Missense_Mutation_p.V273G|NOVA1_ENST00000267422.7_Missense_Mutation_p.V175G	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	300	Ala-rich.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		AAAGGCTGCAACGCCAGCAAG	0.478																																																	0													73.0	68.0	70.0					14																	26917799		2203	4300	6503	SO:0001583	missense	0			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.890T>G	14.37:g.26917799A>C	ENSP00000438875:p.Val297Gly		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.V297G	ENST00000539517.2	37	c.890	CCDS32061.1	14	.	.	.	.	.	.	.	.	.	.	A	13.65	2.299103	0.40694	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198	T;T;T;T	0.34667	1.42;1.4;1.37;1.35	5.93	5.93	0.95920	.	0.079485	0.52532	D	0.000071	T	0.42017	0.1184	L	0.43152	1.355	0.80722	D	1	D;P;P	0.60575	0.988;0.629;0.844	P;B;P	0.52343	0.696;0.193;0.528	T	0.11991	-1.0565	10	0.15952	T	0.53	-17.9544	16.3756	0.83387	1.0:0.0:0.0:0.0	.	300;273;297	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	G	273;297;175;256	ENSP00000447391:V273G;ENSP00000438875:V297G;ENSP00000267422:V175G;ENSP00000408914:V256G	ENSP00000267422:V175G	V	-	2	0	NOVA1	25987639	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.297000	0.96120	2.270000	0.75569	0.460000	0.39030	GTT	NOVA1	-	NULL	ENSG00000139910		0.478	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOVA1	HGNC	protein_coding	OTTHUMT00000073261.3	-	0.00	61	0	A	NM_006491		26917799	-1	tier1	-	no_errors	ENST00000539517	ensembl	human	known	74_37	missense	25.42	44	15	SNP	1.000	C
NPAP1	23742	genome.wustl.edu	37	15	24921692	24921692	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:24921692G>C	ENST00000329468.2	+	1	1152	c.678G>C	c.(676-678)caG>caC	p.Q226H		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	226					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											AGAAGGCCCAGGCGTCTCCAG	0.607																																																	0													33.0	35.0	34.0					15																	24921692		2203	4300	6503	SO:0001583	missense	0			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.678G>C	15.37:g.24921692G>C	ENSP00000333735:p.Gln226His			Missense_Mutation	SNP	NULL	p.Q226H	ENST00000329468.2	37	c.678	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	11.53	1.667495	0.29604	.	.	ENSG00000185823	ENST00000329468	T	0.14266	2.52	2.22	0.0811	0.14423	.	1.251110	0.06140	N	0.672156	T	0.22898	0.0553	L	0.39898	1.24	0.09310	N	1	D	0.64830	0.994	D	0.69479	0.964	T	0.17806	-1.0357	10	0.62326	D	0.03	.	2.5321	0.04705	0.1775:0.0:0.5355:0.287	.	226	Q9NZP6	CO002_HUMAN	H	226	ENSP00000333735:Q226H	ENSP00000333735:Q226H	Q	+	3	2	C15orf2	22472785	0.017000	0.18338	0.000000	0.03702	0.006000	0.05464	1.782000	0.38654	0.028000	0.15324	0.436000	0.28706	CAG	NPAP1	-	NULL	ENSG00000185823		0.607	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	-	0.00	35	0	G	NM_018958		24921692	+1	tier1	-	no_errors	ENST00000329468	ensembl	human	known	74_37	missense	24.39	31	10	SNP	0.000	C
NPBWR2	2832	genome.wustl.edu	37	20	62737688	62737688	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:62737688G>A	ENST00000369768.1	-	1	836	c.497C>T	c.(496-498)gCc>gTc	p.A166V		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	166					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					ACACAGGCTGGCGACCTTCGC	0.647																																																	0													23.0	25.0	24.0					20																	62737688		2195	4287	6482	SO:0001583	missense	0			U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4530	protein-coding gene	gene with protein product		600731	"""G protein-coupled receptor 8"""	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.497C>T	20.37:g.62737688G>A	ENSP00000358783:p.Ala166Val		Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt	p.A166V	ENST00000369768.1	37	c.497	CCDS13557.1	20	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.725266	0.00694	.	.	ENSG00000125522	ENST00000369768	T	0.35421	1.31	3.9	0.68	0.17980	GPCR, rhodopsin-like superfamily (1);	0.391333	0.22884	U	0.054467	T	0.09642	0.0237	N	0.01431	-0.87	0.19775	N	0.999956	B	0.02656	0.0	B	0.06405	0.002	T	0.35992	-0.9766	10	0.05721	T	0.95	.	6.4791	0.22053	0.5694:0.0:0.4306:0.0	.	166	P48146	NPBW2_HUMAN	V	166	ENSP00000358783:A166V	ENSP00000358783:A166V	A	-	2	0	NPBWR2	62208132	0.999000	0.42202	0.055000	0.19348	0.007000	0.05969	3.839000	0.55835	0.116000	0.18110	-0.424000	0.05967	GCC	NPBWR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn	ENSG00000125522		0.647	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPBWR2	HGNC	protein_coding	OTTHUMT00000080300.1	-	0.00	42	0	G	NM_005286		62737688	-1	tier1	-	no_errors	ENST00000369768	ensembl	human	known	74_37	missense	44.00	28	22	SNP	0.801	A
NTSR2	23620	genome.wustl.edu	37	2	11798797	11798797	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:11798797G>T	ENST00000306928.5	-	4	1075	c.1041C>A	c.(1039-1041)ttC>ttA	p.F347L		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	347					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	AGCTGACGTAGAAAAGTGTGT	0.532																																																	0													108.0	106.0	107.0					2																	11798797		2203	4300	6503	SO:0001583	missense	0			Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.1041C>A	2.37:g.11798797G>T	ENSP00000303686:p.Phe347Leu		Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NT2_rcpt,prints_NT_rcpt,prints_GPCR_Rhodpsn	p.F347L	ENST00000306928.5	37	c.1041	CCDS1681.1	2	.	.	.	.	.	.	.	.	.	.	G	15.10	2.734101	0.48939	.	.	ENSG00000169006	ENST00000306928	T	0.35789	1.29	4.31	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.218004	0.31976	N	0.006768	T	0.45597	0.1350	M	0.71920	2.185	0.36536	D	0.871015	P	0.47484	0.896	P	0.47470	0.548	T	0.57636	-0.7777	10	0.39692	T	0.17	-32.6876	15.0657	0.71992	0.0:0.0:1.0:0.0	.	347	O95665	NTR2_HUMAN	L	347	ENSP00000303686:F347L	ENSP00000303686:F347L	F	-	3	2	NTSR2	11716248	1.000000	0.71417	0.336000	0.25522	0.166000	0.22503	3.570000	0.53834	2.324000	0.78689	0.650000	0.86243	TTC	NTSR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000169006		0.532	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTSR2	HGNC	protein_coding	OTTHUMT00000239297.1		0.00	27	0	G			11798797	-1			no_errors	ENST00000306928	ensembl	human	known	74_37	missense	7.14	25	2	SNP	1.000	T
NUS1	116150	genome.wustl.edu	37	6	118024775	118024775	+	Silent	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:118024775T>C	ENST00000368494.3	+	4	868	c.699T>C	c.(697-699)aaT>aaC	p.N233N		NM_138459.3	NP_612468.1	Q96E22	NGBR_HUMAN	nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)	233					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|intracellular cholesterol transport (GO:0032367)|protein glycosylation (GO:0006486)|sterol homeostasis (GO:0055092)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		AAGGTTCAAATGGTTGTCCTG	0.398																																																	0													148.0	133.0	138.0					6																	118024775		2203	4300	6503	SO:0001819	synonymous_variant	0			BC013026	CCDS5118.1	6q22.1	2012-12-13	2006-11-24	2006-11-24	ENSG00000153989	ENSG00000153989			21042	protein-coding gene	gene with protein product	"""Nogo-B receptor"", ""transport and golgi organization 14 homolog (Drosophila)"""	610463	"""chromosome 6 open reading frame 68"""	C6orf68			Standard	NM_138459		Approved	MGC7199, NgBR, TANGO14	uc003pxw.3	Q96E22	OTTHUMG00000015458	ENST00000368494.3:c.699T>C	6.37:g.118024775T>C			B2RWQ4|O00251	Silent	SNP	pfam_UPP_synth-like,superfamily_UPP_synth-like	p.N233	ENST00000368494.3	37	c.699	CCDS5118.1	6																																																																																			NUS1	-	pfam_UPP_synth-like,superfamily_UPP_synth-like	ENSG00000153989		0.398	NUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUS1	HGNC	protein_coding	OTTHUMT00000041989.1	-	0.00	27	0	T	NM_138459		118024775	+1	tier1	-	no_errors	ENST00000368494	ensembl	human	known	74_37	silent	20.00	12	3	SNP	0.979	C
OGFOD2	79676	genome.wustl.edu	37	12	123463398	123463398	+	Silent	SNP	C	C	T	rs565765262	byFrequency	TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:123463398C>T	ENST00000228922.7	+	6	662	c.630C>T	c.(628-630)ggC>ggT	p.G210G	OGFOD2_ENST00000545612.1_Silent_p.G46G|ARL6IP4_ENST00000454885.2_5'Flank|ARL6IP4_ENST00000357866.4_5'Flank|OGFOD2_ENST00000542117.1_3'UTR|ARL6IP4_ENST00000315580.5_5'Flank|ARL6IP4_ENST00000412505.2_5'Flank|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000453766.2_5'Flank|ARL6IP4_ENST00000543566.1_5'Flank|ABCB9_ENST00000542678.1_Intron|OGFOD2_ENST00000538755.1_Silent_p.G46G|OGFOD2_ENST00000397389.2_Silent_p.G150G|ARL6IP4_ENST00000392435.2_5'Flank|OGFOD2_ENST00000536150.1_Silent_p.G46G|OGFOD2_ENST00000545317.1_Silent_p.G46G|OGFOD2_ENST00000454694.2_Silent_p.G46G|OGFOD2_ENST00000538628.1_Silent_p.G46G|ARL6IP4_ENST00000426960.2_5'Flank|ARL6IP4_ENST00000439686.2_5'Flank			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	210							iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|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)			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	CTGACTGTGGCGGGGGCCGGC	0.662													C|||	5	0.000998403	0.0	0.0	5008	,	,		16253	0.001		0.0	False		,,,				2504	0.0041																0													13.0	18.0	17.0					12																	123463398		2068	4205	6273	SO:0001819	synonymous_variant	0			AK094820	CCDS41855.1	12q24.31	2010-11-23			ENSG00000111325	ENSG00000111325			25823	protein-coding gene	gene with protein product						12477932	Standard	NM_024623		Approved	FLJ13491, FLJ37501	uc001udz.1	Q6N063		ENST00000228922.7:c.630C>T	12.37:g.123463398C>T			B3KT24|Q4KN13|Q6N023|Q9H8K6	Silent	SNP	smart_Pro_4_hyd_alph	p.G210	ENST00000228922.7	37	c.630		12																																																																																			OGFOD2	-	smart_Pro_4_hyd_alph	ENSG00000111325		0.662	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	OGFOD2	HGNC	protein_coding	OTTHUMT00000400984.1	-	0.00	95	0	C	NM_024623		123463398	+1	tier1	-	no_errors	ENST00000228922	ensembl	human	known	74_37	silent	31.71	84	39	SNP	0.001	T
OPN1LW	5956	genome.wustl.edu	37	X	153421840	153421840	+	Silent	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:153421840G>A	ENST00000369951.4	+	5	876	c.816G>A	c.(814-816)gtG>gtA	p.V272V	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	272					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGTGGTGGTGATGATCTTTG	0.567																																																	0													445.0	350.0	382.0					X																	153421840		2195	4271	6466	SO:0001819	synonymous_variant	0			Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"""GPCR / Class A : Opsin receptors"""	9936	protein-coding gene	gene with protein product	"""cone dystrophy 5 (X-linked)"""	300822	"""color blindness, protan"", ""red cone photoreceptor pigment"""	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.816G>A	X.37:g.153421840G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin	p.V272	ENST00000369951.4	37	c.816	CCDS14742.1	X																																																																																			OPN1LW	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000102076		0.567	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1LW	HGNC	protein_coding	OTTHUMT00000082839.2	-	0.00	75	0	G	NM_020061		153421840	+1	tier1	-	no_errors	ENST00000369951	ensembl	human	known	74_37	silent	48.31	46	43	SNP	1.000	A
OR13C9	286362	genome.wustl.edu	37	9	107379982	107379982	+	Silent	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:107379982G>A	ENST00000259362.1	-	1	503	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TCTTCCTGCAGAAAGGCAATT	0.443																																																	0													123.0	104.0	110.0					9																	107379982		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"""GPCR / Class A : Olfactory receptors"""	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.504C>T	9.37:g.107379982G>A			Q6IFL2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F168	ENST00000259362.1	37	c.504	CCDS35093.1	9																																																																																			OR13C9	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000136839		0.443	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C9	HGNC	protein_coding	OTTHUMT00000053490.1	-	0.00	64	0	G			107379982	-1	tier1	-	no_errors	ENST00000259362	ensembl	human	known	74_37	silent	20.00	20	5	SNP	0.982	A
OR14A2	388761	genome.wustl.edu	37	1	247887156	247887156	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:247887156A>C	ENST00000366485.1	-	1	189	c.190T>G	c.(190-192)Tta>Gta	p.L64V	RP11-634B7.4_ENST00000449298.1_RNA|RP11-634B7.5_ENST00000426444.1_RNA			Q96R54	O14A2_HUMAN	olfactory receptor, family 14, subfamily A, member 2	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										AAAAAGGATAAGTTCTTCAGG	0.418																																																	0																																										SO:0001583	missense	0			AB065620		1q44	2013-01-16	2008-04-02	2008-04-02	ENSG00000241128	ENSG00000241128		"""GPCR / Class A : Olfactory receptors"""	15024	other	unknown			"""olfactory receptor, family 5, subfamily AX, member 1 pseudogene"", ""olfactory receptor, family 5, subfamily AX, member 1"""	OR5AX1P, OR5AX1			Standard	NG_002409		Approved			Q96R54	OTTHUMG00000040207	ENST00000366485.1:c.190T>G	1.37:g.247887156A>C	ENSP00000355441:p.Leu64Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L64V	ENST00000366485.1	37	c.190		1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.562440	0.45694	.	.	ENSG00000241128	ENST00000366485	T	0.00587	6.38	3.18	2.06	0.26882	.	0.000000	0.37437	U	0.002099	T	0.00695	0.0023	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.48410	-0.9038	7	0.87932	D	0	.	3.6194	0.08090	0.6433:0.0:0.3567:0.0	.	.	.	.	V	64	ENSP00000355441:L64V	ENSP00000355441:L64V	L	-	1	2	OR14A2	245953779	0.000000	0.05858	0.952000	0.39060	0.788000	0.44548	-0.503000	0.06383	1.444000	0.47605	0.533000	0.62120	TTA	OR14A2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000241128		0.418	OR14A2-001	KNOWN	basic|appris_principal	protein_coding	OR14A2	HGNC	protein_coding	OTTHUMT00000096864.1	-	0.00	80	0	A	NG_002409		247887156	-1	tier1	-	no_errors	ENST00000366485	ensembl	human	known	74_37	missense	46.97	35	31	SNP	0.215	C
OR2T2	401992	genome.wustl.edu	37	1	248616437	248616437	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:248616437C>A	ENST00000342927.3	+	1	361	c.339C>A	c.(337-339)ttC>ttA	p.F113L		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGGGGAATTCTTCCTGCTGG	0.542																																																	0													167.0	187.0	180.0					1																	248616437		2203	4300	6503	SO:0001583	missense	0			BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.339C>A	1.37:g.248616437C>A	ENSP00000343062:p.Phe113Leu		B2RNM1|B9EH01	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F113L	ENST00000342927.3	37	c.339	CCDS31116.1	1	.	.	.	.	.	.	.	.	.	.	c	9.175	1.022172	0.19433	.	.	ENSG00000196240	ENST00000342927	T	0.01172	5.23	3.59	0.0583	0.14327	GPCR, rhodopsin-like superfamily (1);	0.274190	0.26297	N	0.025193	T	0.00936	0.0031	L	0.33485	1.01	0.09310	N	1	P	0.39535	0.677	B	0.32677	0.15	T	0.53070	-0.8490	10	0.49607	T	0.09	.	7.5367	0.27714	0.0:0.4051:0.0:0.5949	.	113	Q6IF00	OR2T2_HUMAN	L	113	ENSP00000343062:F113L	ENSP00000343062:F113L	F	+	3	2	OR2T2	246683060	0.000000	0.05858	0.952000	0.39060	0.153000	0.21895	0.105000	0.15333	0.098000	0.17522	0.298000	0.19748	TTC	OR2T2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000196240		0.542	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T2	HGNC	protein_coding	OTTHUMT00000097421.1	-	0.00	127	0	C	NM_001004136		248616437	+1	tier1	-	no_errors	ENST00000342927	ensembl	human	known	74_37	missense	9.66	159	17	SNP	0.000	A
OR2T34	127068	genome.wustl.edu	37	1	248737812	248737812	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:248737812delC	ENST00000328782.2	-	1	268	c.247delG	c.(247-249)gtgfs	p.V83fs		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCTTGGGCACAGTCACGCAT	0.572																																																	0													34.0	28.0	30.0					1																	248737812		2106	4238	6344	SO:0001589	frameshift_variant	0			BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.247delG	1.37:g.248737812delC	ENSP00000330904:p.Val83fs		B2RNJ8|Q6IEY5|Q96R31	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V83fs	ENST00000328782.2	37	c.247	CCDS31120.1	1																																																																																			OR2T34	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000183310		0.572	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T34	HGNC	protein_coding	OTTHUMT00000097138.1		0.00	65	0	C	NM_001001821		248737812	-1	tier1		no_errors	ENST00000328782	ensembl	human	known	74_37	frame_shift_del	12.68	62	9	DEL	0.035	-
OR56A1	120796	genome.wustl.edu	37	11	6048564	6048564	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:6048564A>C	ENST00000316650.5	-	1	407	c.371T>G	c.(370-372)gTc>gGc	p.V124G		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATAGGCCATGACCATAAACGT	0.493																																																	0													120.0	100.0	107.0					11																	6048564		2201	4296	6497	SO:0001583	missense	0			AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.371T>G	11.37:g.6048564A>C	ENSP00000321246:p.Val124Gly		B2RNI2|Q6IFL0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V124G	ENST00000316650.5	37	c.371	CCDS31405.1	11	.	.	.	.	.	.	.	.	.	.	A	11.43	1.637638	0.29157	.	.	ENSG00000180934	ENST00000316650	T	0.05925	3.37	4.16	1.71	0.24356	GPCR, rhodopsin-like superfamily (1);	0.477822	0.15538	N	0.257139	T	0.14399	0.0348	M	0.87900	2.915	0.40573	D	0.98132	P	0.48089	0.905	P	0.49597	0.616	T	0.03335	-1.1047	10	0.62326	D	0.03	.	2.7223	0.05204	0.5167:0.0:0.2905:0.1928	.	124	Q8NGH5	O56A1_HUMAN	G	124	ENSP00000321246:V124G	ENSP00000321246:V124G	V	-	2	0	OR56A1	6005140	0.001000	0.12720	0.709000	0.30452	0.261000	0.26267	1.537000	0.36083	0.225000	0.20959	-0.250000	0.11733	GTC	OR56A1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000180934		0.493	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56A1	HGNC	protein_coding	OTTHUMT00000383757.1	-	0.00	67	0	A	NM_001001917		6048564	-1	tier1	-	no_errors	ENST00000316650	ensembl	human	known	74_37	missense	27.59	42	16	SNP	0.856	C
OR5D13	390142	genome.wustl.edu	37	11	55541046	55541046	+	Missense_Mutation	SNP	T	T	G	rs112091941	byFrequency	TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:55541046T>G	ENST00000361760.1	+	1	133	c.133T>G	c.(133-135)Ttg>Gtg	p.L45V		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				AGTGGGGAACTTGGGCATGAT	0.398																																																	0													162.0	151.0	155.0					11																	55541046		2200	4296	6496	SO:0001583	missense	0			BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.133T>G	11.37:g.55541046T>G	ENSP00000354800:p.Leu45Val		Q6IF68|Q6IFC9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L45V	ENST00000361760.1	37	c.133	CCDS31507.1	11	.	.	.	.	.	.	.	.	.	.	T	3.763	-0.049291	0.07407	.	.	ENSG00000198877	ENST00000361760	T	0.00428	7.44	3.52	-7.05	0.01573	GPCR, rhodopsin-like superfamily (1);	0.000000	0.27464	U	0.019251	T	0.00356	0.0011	M	0.64170	1.965	0.09310	N	1	B	0.27679	0.185	B	0.29942	0.109	T	0.39860	-0.9593	10	0.42905	T	0.14	-6.8477	11.2759	0.49165	0.0969:0.6551:0.0978:0.1502	.	45	Q8NGL4	OR5DD_HUMAN	V	45	ENSP00000354800:L45V	ENSP00000354800:L45V	L	+	1	2	OR5D13	55297622	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-10.618000	0.00005	-3.857000	0.00098	-1.484000	0.00983	TTG	OR5D13	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000198877		0.398	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D13	HGNC	protein_coding	OTTHUMT00000391511.1	-	0.00	59	0	T	NM_001001967		55541046	+1	tier1	-	no_errors	ENST00000361760	ensembl	human	known	74_37	missense	62.86	13	22	SNP	0.000	G
OR5D16	390144	genome.wustl.edu	37	11	55606456	55606456	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:55606456T>G	ENST00000378396.1	+	1	229	c.229T>G	c.(229-231)Tcc>Gcc	p.S77A		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CTGCTATTCCTCCATCATTGC	0.398																																																	0													206.0	202.0	204.0					11																	55606456		2201	4296	6497	SO:0001583	missense	0			AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.229T>G	11.37:g.55606456T>G	ENSP00000367649:p.Ser77Ala		Q6IF65|Q96RB4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S77A	ENST00000378396.1	37	c.229	CCDS31512.1	11	.	.	.	.	.	.	.	.	.	.	.	14.20	2.463933	0.43736	.	.	ENSG00000205029	ENST00000378396	T	0.00392	7.58	4.05	2.71	0.32032	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00580	0.0019	M	0.87180	2.865	0.24883	N	0.992214	P	0.36183	0.542	B	0.43950	0.437	T	0.20338	-1.0278	9	0.87932	D	0	-27.5944	6.6192	0.22794	0.44:0.0:0.0:0.56	.	77	Q8NGK9	OR5DG_HUMAN	A	77	ENSP00000367649:S77A	ENSP00000367649:S77A	S	+	1	0	OR5D16	55363032	0.000000	0.05858	0.984000	0.44739	0.974000	0.67602	-0.472000	0.06623	1.644000	0.50603	0.433000	0.28618	TCC	OR5D16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000205029		0.398	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D16	HGNC	protein_coding	OTTHUMT00000334506.1	-	0.00	80	0	T	NM_001005496		55606456	+1	tier1	-	no_errors	ENST00000378396	ensembl	human	known	74_37	missense	54.93	32	39	SNP	0.727	G
OR5W2	390148	genome.wustl.edu	37	11	55681968	55681968	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:55681968A>G	ENST00000344514.1	-	1	90	c.91T>C	c.(91-93)Ttc>Ctc	p.F31L		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACAGCCAAGAATACAGCAAAT	0.353																																					Melanoma(48;171 1190 15239 43886 49348)												0													66.0	68.0	67.0					11																	55681968		2201	4296	6497	SO:0001583	missense	0			BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.91T>C	11.37:g.55681968A>G	ENSP00000342448:p.Phe31Leu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F31L	ENST00000344514.1	37	c.91	CCDS31513.1	11	.	.	.	.	.	.	.	.	.	.	A	12.62	1.992866	0.35131	.	.	ENSG00000187612	ENST00000344514	T	0.04454	3.62	5.01	2.59	0.31030	.	0.403557	0.18348	N	0.143971	T	0.06005	0.0156	L	0.60067	1.865	0.09310	N	1	B	0.15141	0.012	B	0.21151	0.033	T	0.33292	-0.9874	10	0.62326	D	0.03	.	4.7954	0.13270	0.7293:0.0:0.0983:0.1723	.	31	Q8NH69	OR5W2_HUMAN	L	31	ENSP00000342448:F31L	ENSP00000342448:F31L	F	-	1	0	OR5W2	55438544	0.006000	0.16342	0.000000	0.03702	0.004000	0.04260	0.482000	0.22276	0.216000	0.20781	0.448000	0.29417	TTC	OR5W2	-	prints_GPCR_Rhodpsn	ENSG00000187612		0.353	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5W2	HGNC	protein_coding	OTTHUMT00000391523.1	-	0.00	41	0	A	NM_001001960		55681968	-1	tier1	-	no_errors	ENST00000344514	ensembl	human	known	74_37	missense	58.33	20	28	SNP	0.008	G
OR5T2	219464	genome.wustl.edu	37	11	55999758	55999758	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:55999758T>G	ENST00000313264.4	-	1	979	c.904A>C	c.(904-906)Agt>Cgt	p.S302R		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S302G(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TAGCTGGAACTTGGTCTCACA	0.428																																																	1	Substitution - Missense(1)	large_intestine(1)											199.0	176.0	184.0					11																	55999758		2201	4296	6497	SO:0001583	missense	0			AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.904A>C	11.37:g.55999758T>G	ENSP00000323688:p.Ser302Arg		B9EGX5|Q6IFC8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S302R	ENST00000313264.4	37	c.904	CCDS31523.1	11	.	.	.	.	.	.	.	.	.	.	T	14.64	2.594844	0.46318	.	.	ENSG00000181718	ENST00000313264	T	0.00137	8.68	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.138912	0.32301	U	0.006300	T	0.00241	0.0007	L	0.57130	1.785	0.09310	N	1	B	0.31383	0.321	B	0.43728	0.429	T	0.18272	-1.0342	10	0.72032	D	0.01	.	8.4534	0.32884	0.2707:0.0:0.0:0.7293	.	302	Q8NGG2	OR5T2_HUMAN	R	302	ENSP00000323688:S302R	ENSP00000323688:S302R	S	-	1	0	OR5T2	55756334	0.000000	0.05858	0.810000	0.32431	0.803000	0.45373	0.358000	0.20216	2.041000	0.60428	0.391000	0.25812	AGT	OR5T2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181718		0.428	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T2	HGNC	protein_coding	OTTHUMT00000391598.1	-	0.00	46	0	T	NM_001004746		55999758	-1	tier1	-	no_errors	ENST00000313264	ensembl	human	known	74_37	missense	27.27	40	15	SNP	0.001	G
OSBPL8	114882	genome.wustl.edu	37	12	76786438	76786438	+	Silent	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:76786438G>A	ENST00000261183.3	-	10	1331	c.852C>T	c.(850-852)agC>agT	p.S284S	OSBPL8_ENST00000393250.4_Silent_p.S242S|OSBPL8_ENST00000393249.2_Silent_p.S242S	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	284					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						CTGATGAAACGCTCAGGTCAT	0.423																																																	0													270.0	207.0	229.0					12																	76786438		2203	4300	6503	SO:0001819	synonymous_variant	0			AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.852C>T	12.37:g.76786438G>A			A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Silent	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S284	ENST00000261183.3	37	c.852	CCDS31862.1	12																																																																																			OSBPL8	-	NULL	ENSG00000091039		0.423	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL8	HGNC	protein_coding	OTTHUMT00000406357.1	-	0.00	68	0	G	NM_020841		76786438	-1	tier1	-	no_errors	ENST00000261183	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.999	A
OSBPL9	114883	genome.wustl.edu	37	1	52211208	52211208	+	Splice_Site	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:52211208G>T	ENST00000428468.1	+	5	321	c.319G>T	c.(319-321)Ggt>Tgt	p.G107C	OSBPL9_ENST00000531828.1_5'UTR|OSBPL9_ENST00000462759.1_5'UTR|OSBPL9_ENST00000435686.2_5'UTR|OSBPL9_ENST00000371710.3_Splice_Site_p.G125C|OSBPL9_ENST00000530544.1_Splice_Site_p.G39C|OSBPL9_ENST00000473207.2_3'UTR|OSBPL9_ENST00000337809.4_Splice_Site_p.G125C|OSBPL9_ENST00000371714.1_Splice_Site_p.G107C|OSBPL9_ENST00000361556.5_Splice_Site_p.G10C|OSBPL9_ENST00000453295.1_Splice_Site_p.G90C|OSBPL9_ENST00000486942.1_Intron|OSBPL9_ENST00000447887.1_Splice_Site_p.G130C			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	107					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						CTTTCTCTAGGGTTTGGATTC	0.318																																																	0													107.0	104.0	105.0					1																	52211208		2201	4299	6500	SO:0001630	splice_region_variant	0			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.319-1G>T	1.37:g.52211208G>T			B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G125C	ENST00000428468.1	37	c.373	CCDS41332.3	1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.909651	0.52439	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000361556	T;T;T;T;T	0.15139	2.46;2.68;2.68;2.48;2.45	4.89	3.97	0.46021	.	0.106978	0.64402	D	0.000004	T	0.32912	0.0845	L	0.43152	1.355	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.996;0.996;0.983	D;D;P;P;P	0.91635	0.998;0.999;0.838;0.77;0.711	T	0.04128	-1.0975	10	0.56958	D	0.05	.	13.5398	0.61668	0.0:0.0:0.8426:0.1574	.	90;10;136;107;125	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	C	107;125;125;130;107;90;39;10	ENSP00000360779:G107C;ENSP00000360775:G125C;ENSP00000337265:G125C;ENSP00000412733:G130C;ENSP00000407168:G107C	ENSP00000337265:G125C	G	+	1	0	OSBPL9	51983796	1.000000	0.71417	1.000000	0.80357	0.432000	0.31715	7.983000	0.88140	1.271000	0.44313	-0.188000	0.12872	GGT	OSBPL9	-	NULL	ENSG00000117859		0.318	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL9	HGNC	protein_coding	OTTHUMT00000022584.4	-	0.00	76	0	G		Missense_Mutation	52211208	+1	tier1	-	no_errors	ENST00000371710	ensembl	human	known	74_37	missense	8.51	42	4	SNP	1.000	T
OSTF1	26578	genome.wustl.edu	37	9	77748217	77748217	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:77748217G>T	ENST00000346234.6	+	6	408	c.258G>T	c.(256-258)ttG>ttT	p.L86F		NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	86					ossification (GO:0001503)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)				endometrium(1)|skin(1)	2						CAGGCAACTTGAGCTGGTTGA	0.393																																																	0													110.0	110.0	110.0					9																	77748217		2203	4300	6503	SO:0001583	missense	0			U63717	CCDS6651.1	9q13-q21.2	2013-01-10			ENSG00000134996	ENSG00000134996		"""Ankyrin repeat domain containing"""	8510	protein-coding gene	gene with protein product		610180				10092216	Standard	NM_012383		Approved	SH3P2, OSF, bA235O14.1	uc004ajv.4	Q92882	OTTHUMG00000020033	ENST00000346234.6:c.258G>T	9.37:g.77748217G>T	ENSP00000340836:p.Leu86Phe		Q5W126|Q96IJ4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Ankyrin_rpt	p.L86F	ENST00000346234.6	37	c.258	CCDS6651.1	9	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776598	0.70107	.	.	ENSG00000134996	ENST00000346234	T	0.68479	-0.33	6.07	6.07	0.98685	Ankyrin repeat-containing domain (4);	0.065552	0.64402	D	0.000008	T	0.75250	0.3824	M	0.68317	2.08	0.80722	D	1	D;D	0.64830	0.994;0.987	P;P	0.55303	0.773;0.602	T	0.75797	-0.3191	10	0.52906	T	0.07	-11.4523	14.2896	0.66268	0.0:0.0:0.8512:0.1488	.	86;86	A8K646;Q92882	.;OSTF1_HUMAN	F	86	ENSP00000340836:L86F	ENSP00000340836:L86F	L	+	3	2	OSTF1	76938037	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.974000	0.56852	2.885000	0.99019	0.655000	0.94253	TTG	OSTF1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000134996		0.393	OSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSTF1	HGNC	protein_coding	OTTHUMT00000052704.1	-	0.00	92	0	G	NM_012383		77748217	+1	tier1	-	no_errors	ENST00000346234	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
PAPSS2	9060	genome.wustl.edu	37	10	89419750	89419750	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:89419750C>T	ENST00000361175.4	+	1	381	c.12C>T	c.(10-12)atC>atT	p.I4I	PAPSS2_ENST00000456849.1_Silent_p.I4I|PAPSS2_ENST00000427144.2_5'Flank|RP11-57C13.3_ENST00000354527.2_RNA|RP11-57C13.6_ENST00000438082.1_lincRNA	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	4					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		TGTCGGGGATCAAGAAGCAAA	0.721																																																	0													16.0	21.0	19.0					10																	89419750		2194	4286	6480	SO:0001819	synonymous_variant	0			AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.12C>T	10.37:g.89419750C>T			Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Silent	SNP	pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,superfamily_P-loop_NTPase,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase	p.I4	ENST00000361175.4	37	c.12	CCDS7385.1	10																																																																																			PAPSS2	-	NULL	ENSG00000198682		0.721	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPSS2	HGNC	protein_coding	OTTHUMT00000049229.1	-	0.00	38	0	C			89419750	+1	tier1	-	no_errors	ENST00000456849	ensembl	human	known	74_37	silent	43.75	18	14	SNP	0.965	T
PARP9	83666	genome.wustl.edu	37	3	122259595	122259595	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:122259595C>T	ENST00000360356.2	-	8	1821	c.1594G>A	c.(1594-1596)Gca>Aca	p.A532T	PARP9_ENST00000462315.1_Missense_Mutation_p.A497T|PARP9_ENST00000471785.1_Missense_Mutation_p.A497T|PARP9_ENST00000492382.1_Missense_Mutation_p.A77T|PARP9_ENST00000477522.2_Missense_Mutation_p.A497T	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	532					cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.A532T(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TGGATCCATGCGTGGGCCTCA	0.448																																																	1	Substitution - Missense(1)	large_intestine(1)											145.0	144.0	145.0					3																	122259595		2203	4300	6503	SO:0001583	missense	0			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1594G>A	3.37:g.122259595C>T	ENSP00000353512:p.Ala532Thr		A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.A532T	ENST00000360356.2	37	c.1594	CCDS3014.1	3	.	.	.	.	.	.	.	.	.	.	C	6.757	0.508467	0.12883	.	.	ENSG00000138496	ENST00000360356;ENST00000492382;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T;T	0.17370	3.28;2.95;3.14;3.14;2.28	4.83	2.84	0.33178	.	1.026890	0.07743	N	0.947175	T	0.14356	0.0347	L	0.51422	1.61	0.09310	N	1	B;B;B;B	0.25235	0.012;0.021;0.121;0.01	B;B;B;B	0.16722	0.004;0.004;0.016;0.004	T	0.35051	-0.9804	10	0.17369	T	0.5	.	5.0882	0.14694	0.0:0.6659:0.2174:0.1167	.	497;532;77;497	E9PFM7;Q8IXQ6;G5E9U8;Q8IXQ6-2	.;PARP9_HUMAN;.;.	T	532;77;497;497;455;497	ENSP00000353512:A532T;ENSP00000417664:A77T;ENSP00000419506:A497T;ENSP00000419001:A497T;ENSP00000418894:A497T	ENSP00000353512:A532T	A	-	1	0	PARP9	123742285	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	0.109000	0.15417	1.231000	0.43661	0.650000	0.86243	GCA	PARP9	-	NULL	ENSG00000138496		0.448	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARP9	HGNC	protein_coding	OTTHUMT00000355957.1		0.00	22	0	C	NM_031458		122259595	-1			no_errors	ENST00000360356	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.001	T
PCCA	5095	genome.wustl.edu	37	13	100861648	100861648	+	Silent	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr13:100861648G>A	ENST00000376285.1	+	7	569	c.531G>A	c.(529-531)aaG>aaA	p.K177K	PCCA_ENST00000376279.3_Silent_p.K177K|PCCA_ENST00000376286.4_Silent_p.K151K	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	177	Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TGGGCGACAAGATTGAAAGCA	0.373																																																	0													145.0	136.0	140.0					13																	100861648		2203	4300	6503	SO:0001819	synonymous_variant	0			X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.531G>A	13.37:g.100861648G>A			B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Silent	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl	p.K177	ENST00000376285.1	37	c.531	CCDS9496.2	13																																																																																			PCCA	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_RimK-type,pfscan_Biotin_carboxylation_dom	ENSG00000175198		0.373	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCCA	HGNC	protein_coding	OTTHUMT00000045627.2	-	0.00	65	0	G			100861648	+1	tier1	-	no_errors	ENST00000376285	ensembl	human	known	74_37	silent	43.90	23	18	SNP	1.000	A
PCDH18	54510	genome.wustl.edu	37	4	138449720	138449720	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:138449720A>C	ENST00000344876.4	-	3	3038	c.2652T>G	c.(2650-2652)gaT>gaG	p.D884E	PCDH18_ENST00000510305.1_Missense_Mutation_p.D95E|PCDH18_ENST00000507846.1_Missense_Mutation_p.D663E|PCDH18_ENST00000412923.2_Missense_Mutation_p.D883E|PCDH18_ENST00000511115.1_Missense_Mutation_p.D64E	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	884					brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCAAATCATAATCACTGTCTC	0.443																																																	0													209.0	224.0	219.0					4																	138449720		2203	4300	6503	SO:0001583	missense	0			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2652T>G	4.37:g.138449720A>C	ENSP00000355082:p.Asp884Glu		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D884E	ENST00000344876.4	37	c.2652	CCDS34064.1	4	.	.	.	.	.	.	.	.	.	.	A	18.52	3.641959	0.67244	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.58797	0.36;0.39;0.31;1.14;1.16	5.56	-2.51	0.06365	.	0.000000	0.44688	D	0.000424	T	0.38295	0.1035	L	0.39397	1.21	0.46701	D	0.999167	P;B;P;B	0.43231	0.629;0.214;0.801;0.441	B;B;B;B	0.40256	0.126;0.091;0.324;0.091	T	0.25117	-1.0141	10	0.19147	T	0.46	.	6.7033	0.23236	0.5507:0.12:0.3293:0.0	.	64;663;883;884	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	E	884;883;663;95;64	ENSP00000355082:D884E;ENSP00000390688:D883E;ENSP00000425903:D663E;ENSP00000424269:D95E;ENSP00000425647:D64E	ENSP00000355082:D884E	D	-	3	2	PCDH18	138669170	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	1.599000	0.36751	-0.413000	0.07507	-0.250000	0.11733	GAT	PCDH18	-	NULL	ENSG00000189184		0.443	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1	-	0.00	66	0	A	NM_019035		138449720	-1	tier1	-	no_errors	ENST00000344876	ensembl	human	known	74_37	missense	13.73	44	7	SNP	0.996	C
PCDH9	5101	genome.wustl.edu	37	13	66879019	66879019	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr13:66879019A>C	ENST00000377865.2	-	4	3616	c.3482T>G	c.(3481-3483)tTt>tGt	p.F1161C	PCDH9_ENST00000328454.5_Missense_Mutation_p.F1127C|PCDH9_ENST00000544246.1_Missense_Mutation_p.F1161C|PCDH9_ENST00000456367.1_Missense_Mutation_p.F1127C|PCDH9-AS1_ENST00000430861.1_RNA			Q9HC56	PCDH9_HUMAN	protocadherin 9	1161					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTGGGGTGCAAAGGTTGAGAG	0.498																																																	0													158.0	133.0	141.0					13																	66879019		2203	4300	6503	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3482T>G	13.37:g.66879019A>C	ENSP00000367096:p.Phe1161Cys		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F1161C	ENST00000377865.2	37	c.3482	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	A	15.01	2.707096	0.48412	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.75821	-0.95;-0.95;-0.97;-0.97	6.05	4.88	0.63580	.	0.314437	0.27856	N	0.017574	T	0.80964	0.4725	L	0.56199	1.76	0.40882	D	0.984008	D;D;D	0.65815	0.991;0.995;0.991	P;P;P	0.61940	0.79;0.896;0.79	T	0.82606	-0.0374	10	0.87932	D	0	.	12.0856	0.53695	0.9333:0.0:0.0667:0.0	.	1119;1127;1161	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	C	1161;1161;1127;1127	ENSP00000442186:F1161C;ENSP00000367096:F1161C;ENSP00000401699:F1127C;ENSP00000332060:F1127C	ENSP00000332060:F1127C	F	-	2	0	PCDH9	65777020	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.000000	0.76290	1.118000	0.41863	0.528000	0.53228	TTT	PCDH9	-	NULL	ENSG00000184226		0.498	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	-	0.00	54	0	A	NM_203487		66879019	-1	tier1	-	no_errors	ENST00000377865	ensembl	human	known	74_37	missense	33.33	24	12	SNP	1.000	C
PCDHGB2	56103	genome.wustl.edu	37	5	140740924	140740924	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:140740924G>A	ENST00000522605.1	+	1	1222	c.1222G>A	c.(1222-1224)Ggc>Agc	p.G408S	PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	408	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGACAGACGGCGCTCTGGA	0.493																																																	0													73.0	81.0	78.0					5																	140740924		1981	4144	6125	SO:0001583	missense	0			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1222G>A	5.37:g.140740924G>A	ENSP00000429018:p.Gly408Ser		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G408S	ENST00000522605.1	37	c.1222	CCDS54924.1	5	.	.	.	.	.	.	.	.	.	.	.	3.181	-0.167800	0.06461	.	.	ENSG00000253910	ENST00000522605	T	0.50813	0.73	5.3	-10.4	0.00318	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.31136	0.0787	L	0.38531	1.155	0.09310	N	1	P;P	0.40197	0.508;0.706	B;B	0.40066	0.213;0.318	T	0.24083	-1.0170	9	0.26408	T	0.33	.	10.7179	0.46023	0.7064:0.1306:0.163:0.0	.	408;408	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	S	408	ENSP00000429018:G408S	ENSP00000429018:G408S	G	+	1	0	PCDHGB2	140721108	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.041000	0.03542	-2.040000	0.00916	-0.302000	0.09304	GGC	PCDHGB2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253910		0.493	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB2	HGNC	protein_coding	OTTHUMT00000374741.1	-	0.00	24	0	G	NM_018923		140740924	+1	tier1	-	no_errors	ENST00000522605	ensembl	human	known	74_37	missense	50.00	7	7	SNP	0.000	A
PCDHGB2	56103	genome.wustl.edu	37	5	140741818	140741818	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:140741818G>T	ENST00000522605.1	+	1	2116	c.2116G>T	c.(2116-2118)Gcg>Tcg	p.A706S	PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	706					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTTCCTCGCGGTGATTCT	0.597																																																	0													93.0	96.0	95.0					5																	140741818		2040	4191	6231	SO:0001583	missense	0			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.2116G>T	5.37:g.140741818G>T	ENSP00000429018:p.Ala706Ser		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A706S	ENST00000522605.1	37	c.2116	CCDS54924.1	5	.	.	.	.	.	.	.	.	.	.	.	7.921	0.738617	0.15642	.	.	ENSG00000253910	ENST00000522605	T	0.10860	2.83	4.96	1.58	0.23477	.	.	.	.	.	T	0.04770	0.0129	N	0.16743	0.435	0.09310	N	1	B;B	0.31655	0.149;0.334	B;B	0.27500	0.08;0.056	T	0.39901	-0.9591	9	0.18276	T	0.48	.	2.2254	0.03982	0.3973:0.0:0.3741:0.2285	.	706;706	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	S	706	ENSP00000429018:A706S	ENSP00000429018:A706S	A	+	1	0	PCDHGB2	140722002	0.000000	0.05858	0.018000	0.16275	0.403000	0.30841	-0.221000	0.09202	0.586000	0.29626	0.461000	0.40582	GCG	PCDHGB2	-	NULL	ENSG00000253910		0.597	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB2	HGNC	protein_coding	OTTHUMT00000374741.1		0.00	49	0	G	NM_018923		140741818	+1			no_errors	ENST00000522605	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.025	T
PCDHGA12	26025	genome.wustl.edu	37	5	140812168	140812168	+	Silent	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:140812168G>T	ENST00000252085.3	+	1	1984	c.1842G>T	c.(1840-1842)ccG>ccT	p.P614P	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	614	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCGAGCCGGGACTCTTCT	0.687																																																	0													30.0	37.0	35.0					5																	140812168		2194	4277	6471	SO:0001819	synonymous_variant	0			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1842G>T	5.37:g.140812168G>T			O15100|Q6UW70|Q9Y5D7	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P614	ENST00000252085.3	37	c.1842	CCDS4260.1	5																																																																																			PCDHGA12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253159		0.687	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA12	HGNC	protein_coding	OTTHUMT00000251806.2	-	0.00	149	0	G	NM_003735		140812168	+1	tier1	-	no_errors	ENST00000252085	ensembl	human	known	74_37	silent	22.58	120	35	SNP	0.019	T
PCLO	27445	genome.wustl.edu	37	7	82544559	82544559	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:82544559delT	ENST00000333891.9	-	7	13080	c.12743delA	c.(12742-12744)aatfs	p.N4248fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.N4248fs|PCLO_ENST00000437081.1_Frame_Shift_Del_p.N968fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCTGTAATATTTTTTCTGAG	0.428																																																	0													34.0	34.0	34.0					7																	82544559		1838	4101	5939	SO:0001589	frameshift_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12743delA	7.37:g.82544559delT	ENSP00000334319:p.Asn4248fs			Frame_Shift_Del	DEL	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.N4248fs	ENST00000333891.9	37	c.12743	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5		0.00	67	0	T	NM_014510		82544559	-1	tier1		no_errors	ENST00000333891	ensembl	human	known	74_37	frame_shift_del	37.50	25	15	DEL	1.000	-
PDE1C	5137	genome.wustl.edu	37	7	32110146	32110146	+	5'UTR	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:32110146G>A	ENST00000396191.1	-	0	315				PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000396182.2_5'UTR|PDE1C_ENST00000396184.3_Intron|PDE1C_ENST00000321453.7_Intron	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa						activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CCCCTTCTGCGCCCCCAGACT	0.706																																																	0																																										SO:0001623	5_prime_UTR_variant	0			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.-141C>T	7.37:g.32110146G>A			B3KPC6|E9PE92|Q14124|Q8NB10	RNA	SNP	-	NULL	ENST00000396191.1	37	NULL	CCDS55099.1	7																																																																																			PDE1C	-	-	ENSG00000154678		0.706	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PDE1C	HGNC	protein_coding	OTTHUMT00000328458.1	-	0.00	15	0	G			32110146	-1	tier1	-	no_errors	ENST00000495221	ensembl	human	putative	74_37	rna	43.75	9	7	SNP	0.000	A
PDE2A	5138	genome.wustl.edu	37	11	72292512	72292512	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:72292512A>T	ENST00000334456.5	-	23	2179	c.1934T>A	c.(1933-1935)aTg>aAg	p.M645K	PDE2A_ENST00000418754.2_Missense_Mutation_p.M530K|PDE2A_ENST00000444035.2_Missense_Mutation_p.M636K|PDE2A_ENST00000376450.3_Missense_Mutation_p.M389K|PDE2A_ENST00000540345.1_Missense_Mutation_p.M636K|PDE2A_ENST00000544570.1_Missense_Mutation_p.M638K	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	645	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	CTTCTTCACCATCAAACAGAA	0.582																																																	0													31.0	32.0	32.0					11																	72292512		2200	4293	6493	SO:0001583	missense	0			U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1934T>A	11.37:g.72292512A>T	ENSP00000334910:p.Met645Lys		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.M645K	ENST00000334456.5	37	c.1934	CCDS8216.1	11	.	.	.	.	.	.	.	.	.	.	A	19.49	3.837304	0.71373	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000420501;ENST00000441209;ENST00000542223	T;T;T;T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	5.89	5.89	0.94794	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	D	0.85427	0.5694	M	0.75264	2.295	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.992;0.999;1.0;0.996;1.0	D;P;D;D;P;D	0.91635	0.999;0.845;0.953;0.997;0.845;0.937	D	0.85349	0.1100	10	0.42905	T	0.14	.	15.1261	0.72483	1.0:0.0:0.0:0.0	.	530;645;636;638;645;389	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	K	645;389;636;714;638;530;636;24;186;76	ENSP00000334910:M645K;ENSP00000365633:M389K;ENSP00000411657:M636K;ENSP00000442256:M638K;ENSP00000410310:M530K;ENSP00000446399:M636K;ENSP00000388997:M24K;ENSP00000392457:M186K;ENSP00000440834:M76K	ENSP00000334910:M645K	M	-	2	0	PDE2A	71970160	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.345000	0.79337	2.251000	0.74343	0.482000	0.46254	ATG	PDE2A	-	NULL	ENSG00000186642		0.582	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE2A	HGNC	protein_coding	OTTHUMT00000219839.2	-	0.00	67	0	A	NM_002599		72292512	-1	tier1	-	no_errors	ENST00000334456	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T
PDE6A	5145	genome.wustl.edu	37	5	149323840	149323840	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:149323840C>T	ENST00000255266.5	-	1	516	c.397G>A	c.(397-399)Gtc>Atc	p.V133I		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	133	GAF 1.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.V133I(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	AAAGGGAAGACGATCTCTTGG	0.567																																																	1	Substitution - Missense(1)	kidney(1)											143.0	124.0	131.0					5																	149323840		2203	4300	6503	SO:0001583	missense	0				CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.397G>A	5.37:g.149323840C>T	ENSP00000255266:p.Val133Ile		Q0P638	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.V133I	ENST00000255266.5	37	c.397	CCDS4299.1	5	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588398	0.86851	.	.	ENSG00000132915	ENST00000255266	T	0.69806	-0.43	5.26	5.26	0.73747	GAF (2);	0.000000	0.85682	D	0.000000	T	0.80869	0.4706	M	0.74546	2.27	0.52501	D	0.999955	D	0.89917	1.0	D	0.91635	0.999	T	0.78290	-0.2261	10	0.30078	T	0.28	.	16.7244	0.85417	0.0:1.0:0.0:0.0	.	133	P16499	PDE6A_HUMAN	I	133	ENSP00000255266:V133I	ENSP00000255266:V133I	V	-	1	0	PDE6A	149304033	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	7.772000	0.85439	2.616000	0.88540	0.561000	0.74099	GTC	PDE6A	-	pfam_GAF,smart_GAF	ENSG00000132915		0.567	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6A	HGNC	protein_coding	OTTHUMT00000252326.2	-	0.00	34	0	C			149323840	-1	tier1	-	no_errors	ENST00000255266	ensembl	human	known	74_37	missense	23.53	13	4	SNP	1.000	T
PDE7A	5150	genome.wustl.edu	37	8	66639418	66639418	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:66639418G>A	ENST00000401827.3	-	8	1258	c.815C>T	c.(814-816)gCa>gTa	p.A272V	PDE7A_ENST00000396642.3_Missense_Mutation_p.A272V|PDE7A_ENST00000518667.1_5'UTR|PDE7A_ENST00000379419.4_Missense_Mutation_p.A246V	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	272	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	GTATAAAGTTGCCAAGTAATG	0.313																																																	0													51.0	51.0	51.0					8																	66639418		2203	4300	6503	SO:0001583	missense	0			L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"""Phosphodiesterases"""	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.815C>T	8.37:g.66639418G>A	ENSP00000385632:p.Ala272Val		A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.A272V	ENST00000401827.3	37	c.815	CCDS56538.1	8	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922572	0.92319	.	.	ENSG00000205268	ENST00000401827;ENST00000379419;ENST00000396642	D;D;D	0.87412	-1.92;-1.92;-2.25	5.31	5.31	0.75309	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.95896	0.8664	H	0.96142	3.775	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.999	D;D;D	0.81914	0.995;0.915;0.995	D	0.97187	0.9855	10	0.87932	D	0	.	18.9808	0.92755	0.0:0.0:1.0:0.0	.	272;272;246	Q13946-3;Q13946;Q13946-2	.;PDE7A_HUMAN;.	V	272;246;272	ENSP00000385632:A272V;ENSP00000368730:A246V;ENSP00000379881:A272V	ENSP00000368730:A246V	A	-	2	0	PDE7A	66801972	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.750000	0.98875	2.467000	0.83353	0.467000	0.42956	GCA	PDE7A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	ENSG00000205268		0.313	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE7A	HGNC	protein_coding	OTTHUMT00000378905.1		0.00	40	0	G			66639418	-1			no_errors	ENST00000401827	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	A
PDILT	204474	genome.wustl.edu	37	16	20371903	20371903	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:20371903T>C	ENST00000302451.4	-	11	1741	c.1493A>G	c.(1492-1494)gAg>gGg	p.E498G		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	498					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.E498G(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ATCCTCATCCTCAATCTTAGT	0.453																																																	1	Substitution - Missense(1)	lung(1)											243.0	219.0	227.0					16																	20371903		2203	4300	6503	SO:0001583	missense	0				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1493A>G	16.37:g.20371903T>C	ENSP00000305465:p.Glu498Gly		Q8IVQ5	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.E498G	ENST00000302451.4	37	c.1493	CCDS10584.1	16	.	.	.	.	.	.	.	.	.	.	T	14.76	2.630420	0.46944	.	.	ENSG00000169340	ENST00000302451	T	0.15603	2.41	4.58	3.45	0.39498	Thioredoxin-like fold (1);	0.464041	0.23865	N	0.043803	T	0.23806	0.0576	L	0.32530	0.975	0.09310	N	1	D	0.76494	0.999	D	0.66084	0.941	T	0.03503	-1.1030	10	0.35671	T	0.21	.	7.5045	0.27536	0.1907:0.0:0.0:0.8093	.	498	Q8N807	PDILT_HUMAN	G	498	ENSP00000305465:E498G	ENSP00000305465:E498G	E	-	2	0	PDILT	20279404	0.053000	0.20554	0.013000	0.15412	0.415000	0.31203	2.050000	0.41297	1.033000	0.39918	0.528000	0.53228	GAG	PDILT	-	superfamily_Thioredoxin-like_fold	ENSG00000169340		0.453	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDILT	HGNC	protein_coding	OTTHUMT00000254332.1	-	0.00	55	0	T	NM_174924		20371903	-1	tier1	-	no_errors	ENST00000302451	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.016	C
PEX5L	51555	genome.wustl.edu	37	3	179605521	179605521	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:179605521C>A	ENST00000467460.1	-	4	580	c.250G>T	c.(250-252)Gac>Tac	p.D84Y	PEX5L_ENST00000465751.1_Missense_Mutation_p.D60Y|PEX5L_ENST00000472994.1_Missense_Mutation_p.D25Y|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000392649.3_Missense_Mutation_p.D41Y|PEX5L_ENST00000476138.1_Missense_Mutation_p.D41Y|PEX5L_ENST00000485199.1_Missense_Mutation_p.D49Y|PEX5L_ENST00000263962.8_Missense_Mutation_p.D82Y|PEX5L_ENST00000464614.1_Missense_Mutation_p.D41Y	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	84					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CAGAGAAAGTCATCGATGGAG	0.438																																																	0													224.0	221.0	222.0					3																	179605521		2203	4300	6503	SO:0001583	missense	0			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.250G>T	3.37:g.179605521C>A	ENSP00000419975:p.Asp84Tyr		B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D84Y	ENST00000467460.1	37	c.250	CCDS3236.1	3	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562714	0.86335	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000469198;ENST00000463761	D;D;D;D;D;D;D;D	0.95724	-3.31;-3.32;-3.18;-3.79;-3.23;-3.24;-3.79;-3.26	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.96426	0.8834	L	0.32530	0.975	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.998;0.993;0.999;0.999;0.998	D	0.97158	0.9836	10	0.87932	D	0	-24.2979	19.6685	0.95901	0.0:1.0:0.0:0.0	.	25;60;41;82;49;84	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	Y	84;82;49;82;41;41;37;25;41;60;73;108	ENSP00000419975:D84Y;ENSP00000263962:D82Y;ENSP00000418440:D49Y;ENSP00000376420:D41Y;ENSP00000420555:D41Y;ENSP00000418054:D25Y;ENSP00000417270:D41Y;ENSP00000419348:D60Y	ENSP00000263962:D82Y	D	-	1	0	PEX5L	181088215	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.294000	0.78760	2.639000	0.89480	0.655000	0.94253	GAC	PEX5L	-	NULL	ENSG00000114757		0.438	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1	-	0.00	62	0	C	NM_016559		179605521	-1	tier1	-	no_errors	ENST00000467460	ensembl	human	known	74_37	missense	26.92	38	14	SNP	1.000	A
PGR	5241	genome.wustl.edu	37	11	100962609	100962610	+	Splice_Site	INS	-	-	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:100962609_100962610insA	ENST00000325455.5	-	3	3243		c.e3-2		PGR_ENST00000263463.5_Splice_Site|PGR_ENST00000534013.1_Splice_Site	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor						cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TGTGCTGCCCTAAAAAAACAAA	0.381																																					Pancreas(124;2271 2354 21954 22882)												0																																										SO:0001630	splice_region_variant	0			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1790-2->T	11.37:g.100962616_100962616dupA			A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Splice_Site	INS	-	e3-2	ENST00000325455.5	37	c.1790-3_1790-2	CCDS8310.1	11																																																																																			PGR	-	-	ENSG00000082175		0.381	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGR	HGNC	protein_coding	OTTHUMT00000394934.1		0.00	26	0	-		Intron	100962610	-1	tier1		no_errors	ENST00000325455	ensembl	human	known	74_37	splice_site_ins	28.57	20	8	INS	1.000:0.845	A
PGR	5241	genome.wustl.edu	37	11	100996845	100996845	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:100996845G>T	ENST00000325455.5	-	2	3135	c.1682C>A	c.(1681-1683)tCa>tAa	p.S561*	PGR_ENST00000263463.5_Nonsense_Mutation_p.S561*|PGR_ENST00000534013.1_5'UTR	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	561	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CTGAGGTAATGACTCGAAGCT	0.433																																					Pancreas(124;2271 2354 21954 22882)												0													83.0	71.0	75.0					11																	100996845		2203	4300	6503	SO:0001587	stop_gained	0			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1682C>A	11.37:g.100996845G>T	ENSP00000325120:p.Ser561*		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Nonsense_Mutation	SNP	pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.S561*	ENST00000325455.5	37	c.1682	CCDS8310.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.358211	0.95854	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	.	.	.	5.55	4.63	0.57726	.	0.412825	0.24074	N	0.041787	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.554	0.68086	0.0703:0.0:0.9297:0.0	.	.	.	.	X	561	.	ENSP00000263463:S561X	S	-	2	0	PGR	100502055	1.000000	0.71417	0.564000	0.28396	0.068000	0.16541	4.635000	0.61332	1.330000	0.45394	-0.157000	0.13467	TCA	PGR	-	pfam_Progest_rcpt,prints_Progest_rcpt	ENSG00000082175		0.433	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGR	HGNC	protein_coding	OTTHUMT00000394934.1	-	0.00	52	0	G			100996845	-1	tier1	-	no_errors	ENST00000325455	ensembl	human	known	74_37	nonsense	52.78	34	38	SNP	0.973	T
PIPSL	266971	genome.wustl.edu	37	10	95718361	95718361	+	RNA	DEL	T	T	-	rs113072949		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:95718361delT	ENST00000480546.1	-	0	2936					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										ttttcttttcttttctttctt	0.343																																																	0																																												0			BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95718361delT			Q6NUK8	RNA	DEL	-	NULL	ENST00000480546.1	37	NULL		10																																																																																			PIPSL	-	-	ENSG00000180764		0.343	PIPSL-002	PUTATIVE	basic	processed_transcript	PIPSL	HGNC	pseudogene	OTTHUMT00000351483.1		0.00	10	0	T	NR_002319		95718361	-1			no_errors	ENST00000480546	ensembl	human	putative	74_37	rna	33.33	4	2	DEL	0.041	0
PLCL1	5334	genome.wustl.edu	37	2	198949685	198949685	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:198949685G>T	ENST00000428675.1	+	2	1842	c.1444G>T	c.(1444-1446)Gct>Tct	p.A482S	PLCL1_ENST00000437704.2_Missense_Mutation_p.A384S	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	482	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TGCCTTTGTTGCTTCTGAATA	0.388																																																	0													71.0	70.0	70.0					2																	198949685		2203	4300	6503	SO:0001583	missense	0			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1444G>T	2.37:g.198949685G>T	ENSP00000402861:p.Ala482Ser		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.A482S	ENST00000428675.1	37	c.1444	CCDS2326.2	2	.	.	.	.	.	.	.	.	.	.	G	4.205	0.036707	0.08148	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.63417	-0.04;-0.04	5.94	5.07	0.68467	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.64402	D	0.000003	T	0.46698	0.1406	L	0.31804	0.96	0.44345	D	0.997231	B;B	0.23128	0.08;0.044	B;B	0.24006	0.05;0.034	T	0.36768	-0.9734	9	.	.	.	.	8.6284	0.33904	0.0694:0.0:0.67:0.2606	.	482;408	Q15111;B4DYZ4	PLCL1_HUMAN;.	S	482;384	ENSP00000402861:A482S;ENSP00000414138:A384S	.	A	+	1	0	PLCL1	198657930	1.000000	0.71417	0.947000	0.38551	0.806000	0.45545	3.865000	0.56033	1.533000	0.49186	0.561000	0.74099	GCT	PLCL1	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	ENSG00000115896		0.388	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	HGNC	protein_coding	OTTHUMT00000340210.1	-	0.00	18	0	G	NM_006226		198949685	+1	tier1	-	no_errors	ENST00000428675	ensembl	human	known	74_37	missense	40.00	12	8	SNP	0.993	T
PLEC	5339	genome.wustl.edu	37	8	144995483	144995483	+	Missense_Mutation	SNP	C	C	T	rs200814155	byFrequency	TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:144995483C>T	ENST00000322810.4	-	32	9086	c.8917G>A	c.(8917-8919)Gac>Aac	p.D2973N	PLEC_ENST00000354958.2_Missense_Mutation_p.D2814N|PLEC_ENST00000356346.3_Missense_Mutation_p.D2822N|PLEC_ENST00000398774.2_Missense_Mutation_p.D2804N|PLEC_ENST00000354589.3_Missense_Mutation_p.D2836N|PLEC_ENST00000357649.2_Missense_Mutation_p.D2840N|PLEC_ENST00000345136.3_Missense_Mutation_p.D2836N|PLEC_ENST00000436759.2_Missense_Mutation_p.D2863N|PLEC_ENST00000527096.1_Missense_Mutation_p.D2859N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2973	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.D2973N(1)|p.D2836N(1)|p.D2863N(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ATCTCCTCGTCGAAGTAGCCG	0.667													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18707	0.0		0.001	False		,,,				2504	0.0																3	Substitution - Missense(3)	lung(3)						C	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	3,4015		0,3,2006	63.0	70.0	68.0		8587,8464,8440,8917,8410,8506,8518,8506	3.2	1.0	8		68	20,8308		0,20,4144	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	23,23,23,23,23,23,23,23	0,23,6150	TT,TC,CC		0.2402,0.0747,0.1863	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	2863/4575,2822/4534,2814/4526,2973/4685,2804/4516,2836/4548,2840/4552,2836/4548	144995483	23,12323	2009	4164	6173	SO:0001583	missense	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8917G>A	8.37:g.144995483C>T	ENSP00000323856:p.Asp2973Asn		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.D2973N	ENST00000322810.4	37	c.8917	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128415	0.37533	7.47E-4	0.002402	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	4.95	3.16	0.36331	.	0.000000	0.64402	U	0.000004	T	0.73024	0.3534	L	0.46885	1.475	0.51767	D	0.999934	B;B;B;B;B;B;B;B	0.33826	0.295;0.427;0.427;0.343;0.427;0.427;0.295;0.295	B;B;B;B;B;B;B;B	0.32393	0.089;0.089;0.089;0.145;0.089;0.089;0.089;0.089	T	0.70568	-0.4836	10	0.52906	T	0.07	.	11.4324	0.50050	0.0:0.85:0.0:0.15	.	2863;2822;2814;2973;2804;2836;2840;2836	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	N	2836;2840;2836;2804;2973;2814;2822;2863;2859	ENSP00000344848:D2836N;ENSP00000350277:D2840N;ENSP00000346602:D2836N;ENSP00000381756:D2804N;ENSP00000323856:D2973N;ENSP00000347044:D2814N;ENSP00000348702:D2822N;ENSP00000388180:D2863N;ENSP00000434583:D2859N	ENSP00000323856:D2973N	D	-	1	0	PLEC	145067471	0.998000	0.40836	0.995000	0.50966	0.660000	0.38997	3.898000	0.56281	0.642000	0.30620	-0.366000	0.07423	GAC	PLEC	-	pfam_Plectin_repeat,smart_Plectin_repeat	ENSG00000178209		0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	-	0.00	52	0	C	NM_000445		144995483	-1	tier1	rs200814155	no_errors	ENST00000322810	ensembl	human	known	74_37	missense	38.10	39	24	SNP	1.000	T
PLIN1	5346	genome.wustl.edu	37	15	90208853	90208853	+	Silent	SNP	C	C	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:90208853C>G	ENST00000300055.5	-	9	1695	c.1530G>C	c.(1528-1530)ctG>ctC	p.L510L	PLIN1_ENST00000430628.2_Silent_p.L510L	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	510				L -> V (in Ref. 1; BAA25420). {ECO:0000305}.	lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)	lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						GCGTGCGGCCCAGGATGGGCT	0.692																																																	0													3.0	2.0	2.0					15																	90208853		1538	3008	4546	SO:0001819	synonymous_variant	0			AB005293	CCDS10353.1	15q26	2009-08-12	2009-08-12	2009-08-12	ENSG00000166819	ENSG00000166819		"""Perilipins"""	9076	protein-coding gene	gene with protein product		170290	"""perilipin"""	PLIN		9521880, 19638644	Standard	NM_002666		Approved		uc010upx.1	O60240	OTTHUMG00000149813	ENST00000300055.5:c.1530G>C	15.37:g.90208853C>G			Q8N5Y6	Silent	SNP	pfam_Perilipin,pirsf_Perilipin	p.L510	ENST00000300055.5	37	c.1530	CCDS10353.1	15																																																																																			PLIN1	-	NULL	ENSG00000166819		0.692	PLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN1	HGNC	protein_coding	OTTHUMT00000313424.2	-	0.00	9	0	C	NM_002666		90208853	-1	tier1	-	no_errors	ENST00000300055	ensembl	human	known	74_37	silent	68.42	6	13	SNP	1.000	G
PLXNB1	5364	genome.wustl.edu	37	3	48465462	48465462	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:48465462G>A	ENST00000358536.4	-	3	828	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	PLXNB1_ENST00000456774.1_Missense_Mutation_p.R187W|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R187W|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.R187W	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	187	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACAGGGCCCGGGTTGTGATG	0.672																																																	0													10.0	13.0	12.0					3																	48465462		2197	4287	6484	SO:0001583	missense	0			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.559C>T	3.37:g.48465462G>A	ENSP00000351338:p.Arg187Trp		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.R187W	ENST00000358536.4	37	c.559	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723760	0.68959	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	4.26	4.26	0.50523	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	7.973270	0.00986	N	0.003447	D	0.83986	0.5373	M	0.90542	3.125	0.80722	D	1	D;B	0.89917	1.0;0.077	D;B	0.91635	0.999;0.014	T	0.68473	-0.5399	10	0.87932	D	0	.	15.6685	0.77255	0.0:0.0:1.0:0.0	.	187;187	O43157;O43157-2	PLXB1_HUMAN;.	W	187	ENSP00000296440:R187W;ENSP00000351242:R187W;ENSP00000351338:R187W;ENSP00000414199:R187W	ENSP00000296440:R187W	R	-	1	2	PLXNB1	48440466	1.000000	0.71417	0.984000	0.44739	0.777000	0.43975	7.934000	0.87649	1.916000	0.55485	0.591000	0.81541	CGG	PLXNB1	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000164050		0.672	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1	-	0.00	27	0	G	NM_002673		48465462	-1	tier1	-	no_errors	ENST00000296440	ensembl	human	known	74_37	missense	65.00	7	13	SNP	1.000	A
PMEPA1	56937	genome.wustl.edu	37	20	56227338	56227338	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:56227338G>A	ENST00000341744.3	-	4	954	c.635C>T	c.(634-636)tCg>tTg	p.S212L	PMEPA1_ENST00000395814.1_Missense_Mutation_p.S162L|PMEPA1_ENST00000347215.4_Missense_Mutation_p.S177L|PMEPA1_ENST00000265626.4_Missense_Mutation_p.S162L|PMEPA1_ENST00000395816.3_Missense_Mutation_p.S162L	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	212					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GCTGATGCCCGAGTTACTGCT	0.687																																																	0													26.0	30.0	28.0					20																	56227338		2202	4298	6500	SO:0001583	missense	0			AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.635C>T	20.37:g.56227338G>A	ENSP00000345826:p.Ser212Leu		Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Missense_Mutation	SNP	NULL	p.S212L	ENST00000341744.3	37	c.635	CCDS13463.1	20	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043705	0.93685	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814;ENST00000414037	T;T;T;T;T;T	0.59502	0.26;0.33;0.33;0.33;0.33;0.4	5.53	4.57	0.56435	.	0.148152	0.46442	D	0.000281	T	0.75700	0.3885	M	0.77313	2.365	0.54753	D	0.999988	D;D	0.89917	1.0;0.997	D;P	0.67900	0.954;0.886	T	0.80238	-0.1465	10	0.87932	D	0	-19.0115	16.4181	0.83750	0.0:0.1317:0.8683:0.0	.	177;212	Q5JY37;Q969W9	.;PMEPA_HUMAN	L	212;177;162;162;162;184	ENSP00000345826:S212L;ENSP00000344014:S177L;ENSP00000379161:S162L;ENSP00000265626:S162L;ENSP00000379159:S162L;ENSP00000401506:S184L	ENSP00000265626:S162L	S	-	2	0	PMEPA1	55660744	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.394000	0.79862	1.311000	0.45024	0.650000	0.86243	TCG	PMEPA1	-	NULL	ENSG00000124225		0.687	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMEPA1	HGNC	protein_coding	OTTHUMT00000079858.2	-	0.00	39	0	G	NM_020182		56227338	-1	tier1	-	no_errors	ENST00000341744	ensembl	human	known	74_37	missense	31.11	31	14	SNP	1.000	A
PNPT1	87178	genome.wustl.edu	37	2	55912086	55912086	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:55912086C>T	ENST00000447944.2	-	4	481	c.395G>A	c.(394-396)cGa>cAa	p.R132Q		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	132					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCTATTATTCGACTTGTTAG	0.378																																																	0													103.0	89.0	94.0					2																	55912086		2202	4300	6502	SO:0001583	missense	0			BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.395G>A	2.37:g.55912086C>T	ENSP00000400646:p.Arg132Gln		Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_RNA-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_RNA-bd_bac/org-type,superfamily_NA-bd_OB-fold,smart_KH_dom,smart_RNA-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_RNA-bd_dom,tigrfam_PNPase	p.R132Q	ENST00000447944.2	37	c.395	CCDS1856.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.448782	0.96205	.	.	ENSG00000138035	ENST00000447944	T	0.53423	0.62	5.55	5.55	0.83447	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.000000	0.85682	D	0.000000	D	0.82628	0.5078	H	0.98818	4.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89739	0.3932	10	0.87932	D	0	-11.7345	19.0931	0.93235	0.0:1.0:0.0:0.0	.	132	Q8TCS8	PNPT1_HUMAN	Q	132	ENSP00000400646:R132Q	ENSP00000260604:R132Q	R	-	2	0	PNPT1	55765590	1.000000	0.71417	0.993000	0.49108	0.915000	0.54546	7.431000	0.80335	2.611000	0.88343	0.563000	0.77884	CGA	PNPT1	-	pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_PNPase,tigrfam_PNPase	ENSG00000138035		0.378	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPT1	HGNC	protein_coding	OTTHUMT00000251481.2	-	0.00	29	0	C	NM_033109		55912086	-1	tier1	-	no_errors	ENST00000415374	ensembl	human	known	74_37	missense	47.62	11	10	SNP	1.000	T
POLR3A	11128	genome.wustl.edu	37	10	79782097	79782097	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:79782097G>T	ENST00000372371.3	-	6	828	c.691C>A	c.(691-693)Cca>Aca	p.P231T	POLR3A_ENST00000484760.1_5'Flank	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	231					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)	p.P231S(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TCTTCAGCTGGGATTCGTTTA	0.408																																																	1	Substitution - Missense(1)	skin(1)											53.0	53.0	53.0					10																	79782097		2203	4300	6503	SO:0001583	missense	0			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.691C>A	10.37:g.79782097G>T	ENSP00000361446:p.Pro231Thr		Q8IW34|Q8TCW5	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N	p.P231T	ENST00000372371.3	37	c.691	CCDS7354.1	10	.	.	.	.	.	.	.	.	.	.	G	9.108	1.005765	0.19199	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.66638	-0.22	5.06	5.06	0.68205	RNA polymerase Rpb1, domain 1 (1);	0.105288	0.64402	D	0.000003	T	0.65883	0.2734	L	0.48877	1.53	0.54753	D	0.999988	B	0.28584	0.216	B	0.37198	0.243	T	0.61758	-0.6997	9	.	.	.	-10.8613	18.4459	0.90683	0.0:0.0:1.0:0.0	.	231	O14802	RPC1_HUMAN	T	231	ENSP00000361446:P231T	.	P	-	1	0	POLR3A	79452103	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.315000	0.65810	2.359000	0.80004	0.650000	0.86243	CCA	POLR3A	-	pfam_RNA_pol_Rpb1_1	ENSG00000148606		0.408	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3A	HGNC	protein_coding	OTTHUMT00000048923.1		0.00	59	0	G	NM_007055		79782097	-1			no_errors	ENST00000372371	ensembl	human	known	74_37	missense	9.38	29	3	SNP	1.000	T
POSTN	10631	genome.wustl.edu	37	13	38143326	38143326	+	Intron	DEL	T	T	-	rs58863577|rs564921581|rs576070502	byFrequency	TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr13:38143326delT	ENST00000379747.4	-	21	2549				POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000541179.1_Intron|POSTN_ENST00000541481.1_Intron|POSTN_ENST00000379749.4_Intron|POSTN_ENST00000379743.4_Intron|POSTN_ENST00000379742.4_Intron	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GGATGTTGTCTTTTTTTTTTT	0.308																																																	0																																										SO:0001627	intron_variant	0			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2431+110A>-	13.37:g.38143326delT			B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	RNA	DEL	-	NULL	ENST00000379747.4	37	NULL	CCDS9364.1	13																																																																																			POSTN	-	-	ENSG00000133110		0.308	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2		0.00	13	0	T	NM_006475		38143326	-1	tier1		no_errors	ENST00000497145	ensembl	human	known	74_37	rna	75.00	3	9	DEL	0.005	-
PPP1R10	5514	genome.wustl.edu	37	6	30570393	30570393	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:30570393G>A	ENST00000376511.2	-	19	2585	c.2033C>T	c.(2032-2034)cCc>cTc	p.P678L		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	678	Gly-rich.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						ATCCCAGAAGGGATCACCTCC	0.667																																																	0													8.0	12.0	11.0					6																	30570393		1407	2576	3983	SO:0001583	missense	0			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2033C>T	6.37:g.30570393G>A	ENSP00000365694:p.Pro678Leu		O00405	Missense_Mutation	SNP	pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH	p.P678L	ENST00000376511.2	37	c.2033	CCDS4681.1	6	.	.	.	.	.	.	.	.	.	.	G	10.57	1.386581	0.25031	.	.	ENSG00000204569	ENST00000376511	T	0.43688	0.94	4.48	3.61	0.41365	.	0.432027	0.24841	N	0.035171	T	0.09379	0.0231	N	0.08118	0	0.34091	D	0.660732	B	0.02656	0.0	B	0.04013	0.001	T	0.04915	-1.0918	10	0.59425	D	0.04	-1.1166	6.458	0.21940	0.0993:0.1841:0.7166:0.0	.	678	Q96QC0	PP1RA_HUMAN	L	678	ENSP00000365694:P678L	ENSP00000365694:P678L	P	-	2	0	PPP1R10	30678372	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.743000	0.47442	1.255000	0.44051	0.485000	0.47835	CCC	PPP1R10	-	NULL	ENSG00000204569		0.667	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R10	HGNC	protein_coding	OTTHUMT00000076556.2	-	0.00	55	0	G	NM_002714		30570393	-1	tier1	-	no_errors	ENST00000376511	ensembl	human	known	74_37	missense	26.87	48	18	SNP	0.993	A
PPP1R2P1	100507444	genome.wustl.edu	37	6	32847624	32847624	+	RNA	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:32847624G>A	ENST00000420261.1	-	0	1							Q96PQ5	IPP2L_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 1						glycogen metabolic process (GO:0005977)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of signal transduction (GO:0009966)		protein phosphatase inhibitor activity (GO:0004864)										CGGGTGCTCCGCCTGTCGGCT	0.662																																																	0																																												0			AF275684		6p21.32	2013-06-10		2001-08-31	ENSG00000234515	ENSG00000234515			9289	pseudogene	pseudogene				PPP1R2P		11696978, 7949733	Standard	NG_027882		Approved	IPP-2P		Q96PQ5	OTTHUMG00000031273		6.37:g.32847624G>A				RNA	SNP	-	NULL	ENST00000420261.1	37	NULL		6																																																																																			PPP1R2P1	-	-	ENSG00000234515		0.662	PPP1R2P1-002	KNOWN	basic	processed_transcript	PPP1R2P1	HGNC	pseudogene	OTTHUMT00000276488.1	-	0.00	78	0	G	NG_027882		32847624	-1	tier1	-	no_errors	ENST00000420261	ensembl	human	known	74_37	rna	62.77	35	59	SNP	0.004	A
PPP2R3A	5523	genome.wustl.edu	37	3	135721110	135721110	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:135721110A>G	ENST00000264977.3	+	2	1387	c.770A>G	c.(769-771)aAa>aGa	p.K257R	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	257					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATAAAGAAAAAATCAGGGAGT	0.358																																																	0													57.0	59.0	58.0					3																	135721110		2203	4299	6502	SO:0001583	missense	0			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.770A>G	3.37:g.135721110A>G	ENSP00000264977:p.Lys257Arg		A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.K257R	ENST00000264977.3	37	c.770	CCDS3087.1	3	.	.	.	.	.	.	.	.	.	.	A	11.60	1.686509	0.29962	.	.	ENSG00000073711	ENST00000264977	T	0.16597	2.33	5.34	5.34	0.76211	.	0.051627	0.85682	D	0.000000	T	0.13329	0.0323	L	0.41710	1.295	0.80722	D	1	P	0.42409	0.779	B	0.37480	0.251	T	0.04991	-1.0913	10	0.35671	T	0.21	.	9.0822	0.36558	0.9182:0.0:0.0818:0.0	.	257	Q06190	P2R3A_HUMAN	R	257	ENSP00000264977:K257R	ENSP00000264977:K257R	K	+	2	0	PPP2R3A	137203800	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	7.214000	0.77958	2.010000	0.58986	0.533000	0.62120	AAA	PPP2R3A	-	NULL	ENSG00000073711		0.358	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3A	HGNC	protein_coding	OTTHUMT00000357232.1	-	0.00	21	0	A	NM_002718		135721110	+1	tier1	-	no_errors	ENST00000264977	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	G
PRCP	5547	genome.wustl.edu	37	11	82561066	82561066	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:82561066G>T	ENST00000313010.3	-	5	835	c.641C>A	c.(640-642)cCt>cAt	p.P214H	PRCP_ENST00000393399.2_Missense_Mutation_p.P235H|PRCP_ENST00000535099.1_Missense_Mutation_p.P109H	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	214	SKS domain.				angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TACACCACAAGGTACTAAATC	0.383																																																	0													45.0	45.0	45.0					11																	82561066		2203	4300	6503	SO:0001583	missense	0			BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.641C>A	11.37:g.82561066G>T	ENSP00000317362:p.Pro214His		A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	pfam_Peptidase_S28	p.P235H	ENST00000313010.3	37	c.704	CCDS8262.1	11	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080400	0.76528	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099;ENST00000531801;ENST00000534631;ENST00000527444;ENST00000531128;ENST00000534396	D;D;D;D;D;D;T;T	0.92348	-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;1.5;1.5	5.34	4.42	0.53409	.	0.211115	0.51477	D	0.000100	D	0.96756	0.8941	M	0.93854	3.465	0.80722	D	1	D;D	0.67145	0.996;0.991	D;D	0.67231	0.912;0.95	D	0.97660	1.0160	9	.	.	.	-7.2141	14.6975	0.69132	0.0712:0.0:0.9287:0.0	.	214;235	P42785;A8MU24	PCP_HUMAN;.	H	214;235;109;109;109;109;109;109	ENSP00000317362:P214H;ENSP00000377055:P235H;ENSP00000442077:P109H;ENSP00000432004:P109H;ENSP00000431559:P109H;ENSP00000436141:P109H;ENSP00000431435:P109H;ENSP00000432506:P109H	.	P	-	2	0	PRCP	82238714	1.000000	0.71417	0.927000	0.36925	0.939000	0.58152	5.289000	0.65656	1.355000	0.45865	0.650000	0.86243	CCT	PRCP	-	pfam_Peptidase_S28	ENSG00000137509		0.383	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRCP	HGNC	protein_coding	OTTHUMT00000391792.1	-	0.00	70	0	G	NM_005040		82561066	-1	tier1	-	no_errors	ENST00000393399	ensembl	human	known	74_37	missense	6.33	73	5	SNP	0.998	T
PRIM2	5558	genome.wustl.edu	37	6	57512588	57512588	+	3'UTR	SNP	A	A	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:57512588A>C	ENST00000389488.2	+	0	1503				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AAACTCCTCAACCCAAACCAA	0.388																																																	0													386.0	363.0	370.0					6																	57512588		1962	4156	6118	SO:0001624	3_prime_UTR_variant	0				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1500A>C	6.37:g.57512588A>C			Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	RNA	SNP	-	NULL	ENST00000389488.2	37	NULL		6																																																																																			PRIM2	-	-	ENSG00000146143		0.388	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	PRIM2	HGNC	protein_coding	OTTHUMT00000043468.3	-	0.00	104	0	A	NM_000947		57512588	+1	tier1	-	no_errors	ENST00000389488	ensembl	human	known	74_37	rna	12.94	74	11	SNP	0.052	C
PRKAA1	5562	genome.wustl.edu	37	5	40764855	40764855	+	Splice_Site	SNP	T	T	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:40764855T>G	ENST00000397128.2	-	7	1315	c.1307A>C	c.(1306-1308)aAg>aCg	p.K436T	PRKAA1_ENST00000354209.3_Splice_Site_p.K451T	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	436					activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	CTTTCTTACCTTCCATTCATA	0.294																																																	0													94.0	85.0	88.0					5																	40764855		1827	4096	5923	SO:0001630	splice_region_variant	0				CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"""AMPK, alpha, 1"""	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.1308+1A>C	5.37:g.40764855T>G			A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K451T	ENST00000397128.2	37	c.1352	CCDS3932.2	5	.	.	.	.	.	.	.	.	.	.	T	23.4	4.408239	0.83340	.	.	ENSG00000132356	ENST00000397128;ENST00000354209	T;T	0.75821	-0.88;-0.97	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.88727	0.6515	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.90618	0.4557	10	0.62326	D	0.03	-18.1641	16.2826	0.82703	0.0:0.0:0.0:1.0	.	436;451	Q13131;Q13131-2	AAPK1_HUMAN;.	T	436;451	ENSP00000380317:K436T;ENSP00000346148:K451T	ENSP00000346148:K451T	K	-	2	0	AC008810.1	40800612	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.655000	0.83696	2.307000	0.77673	0.528000	0.53228	AAG	PRKAA1	-	superfamily_KA1/Ssp2_C	ENSG00000132356		0.294	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAA1	HGNC	protein_coding	OTTHUMT00000253833.2	-	0.00	61	0	T	NM_006251	Missense_Mutation	40764855	-1	tier1	-	no_errors	ENST00000354209	ensembl	human	known	74_37	missense	31.25	33	15	SNP	1.000	G
PRKACA	5566	genome.wustl.edu	37	19	14203873	14203874	+	3'UTR	INS	-	-	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:14203873_14203874insA	ENST00000308677.4	-	0	1302_1303				PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_3'UTR|PRKACA_ENST00000350356.3_5'UTR|SAMD1_ENST00000533683.2_5'Flank|SAMD1_ENST00000541938.1_5'Flank	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CCCCCCCGACCaaaaaaaagaa	0.53																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.*51->T	19.37:g.14203881_14203881dupA			Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	RNA	INS	-	NULL	ENST00000308677.4	37	NULL	CCDS12304.1	19																																																																																			PRKACA	-	-	ENSG00000072062		0.530	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKACA	HGNC	protein_coding	OTTHUMT00000459004.1		0.00	71	0	-	NM_002730		14203874	-1	tier1		no_errors	ENST00000350356	ensembl	human	known	74_37	rna	27.78	39	15	INS	0.001:0.004	A
PRKCG	5582	genome.wustl.edu	37	19	54409689	54409689	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:54409689C>T	ENST00000263431.3	+	17	2165	c.1883C>T	c.(1882-1884)cCg>cTg	p.P628L	CACNG7_ENST00000391767.1_5'Flank|PRKCG_ENST00000542049.1_Missense_Mutation_p.P479L|PRKCG_ENST00000540413.1_Missense_Mutation_p.P628L	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	628	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	TTGGAGATCCCGCCTCCTTTC	0.607											OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													42.0	31.0	35.0					19																	54409689		2196	4285	6481	SO:0001583	missense	0			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1883C>T	19.37:g.54409689C>T	ENSP00000263431:p.Pro628Leu	1000	B7Z8Q0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.P628L	ENST00000263431.3	37	c.1883	CCDS12867.1	19	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434029	0.43224	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.51325	0.71;0.71;1.88	3.89	3.89	0.44902	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	.	.	.	.	T	0.43765	0.1262	L	0.46157	1.445	0.30355	N	0.784414	B;B;B	0.26672	0.043;0.156;0.028	B;B;B	0.25987	0.008;0.065;0.018	T	0.52525	-0.8564	9	0.87932	D	0	.	13.7717	0.63029	0.0:1.0:0.0:0.0	.	479;628;628	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	L	628;628;479	ENSP00000443493:P628L;ENSP00000263431:P628L;ENSP00000438090:P479L	ENSP00000263431:P628L	P	+	2	0	PRKCG	59101501	0.000000	0.05858	0.953000	0.39169	0.921000	0.55340	0.640000	0.24705	2.187000	0.69744	0.555000	0.69702	CCG	PRKCG	-	superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g	ENSG00000126583		0.607	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCG	HGNC	protein_coding	OTTHUMT00000139233.3	-	0.00	32	0	C	NM_002739		54409689	+1	tier1	-	no_errors	ENST00000540413	ensembl	human	known	74_37	missense	40.00	15	10	SNP	0.703	T
PRKD1	5587	genome.wustl.edu	37	14	30100001	30100001	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr14:30100001A>C	ENST00000331968.5	-	10	1848	c.1619T>G	c.(1618-1620)cTt>cGt	p.L540R	PRKD1_ENST00000415220.2_Missense_Mutation_p.L548R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	540	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GACGGGCATAAGGGCATGCTG	0.537																																																	0													179.0	139.0	153.0					14																	30100001		2203	4300	6503	SO:0001583	missense	0				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1619T>G	14.37:g.30100001A>C	ENSP00000333568:p.Leu540Arg		A6NL64|B2RAF6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.L540R	ENST00000331968.5	37	c.1619	CCDS9637.1	14	.	.	.	.	.	.	.	.	.	.	A	19.84	3.901886	0.72754	.	.	ENSG00000184304	ENST00000331968;ENST00000415220;ENST00000546371	T;T;T	0.29397	1.57;1.57;1.57	4.92	4.92	0.64577	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.64402	D	0.000002	T	0.60676	0.2287	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.69206	-0.5206	10	0.87932	D	0	-18.8933	14.8411	0.70226	1.0:0.0:0.0:0.0	.	540	Q15139	KPCD1_HUMAN	R	540;548;121	ENSP00000333568:L540R;ENSP00000390535:L548R;ENSP00000447333:L121R	ENSP00000333568:L540R	L	-	2	0	PRKD1	29169752	1.000000	0.71417	0.993000	0.49108	0.618000	0.37518	9.199000	0.95003	1.968000	0.57251	0.533000	0.62120	CTT	PRKD1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000184304		0.537	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2	-	0.00	57	0	A	NM_002742		30100001	-1	tier1	-	no_errors	ENST00000331968	ensembl	human	known	74_37	missense	15.00	51	9	SNP	1.000	C
PRKDC	5591	genome.wustl.edu	37	8	48773481	48773481	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:48773481C>T	ENST00000314191.2	-	46	6090	c.6034G>A	c.(6034-6036)Gaa>Aaa	p.E2012K	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E2012K	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2013					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TTTGCTGCTTCTCTGGCTTCT	0.313								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													111.0	104.0	106.0					8																	48773481		1815	4072	5887	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6034G>A	8.37:g.48773481C>T	ENSP00000313420:p.Glu2012Lys		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E2012K	ENST00000314191.2	37	c.6034		8	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330615	0.81690	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.35236	1.32;1.32	6.02	5.12	0.69794	NUC194 (1);Armadillo-type fold (1);	0.305411	0.34603	N	0.003839	T	0.45915	0.1366	L	0.59436	1.845	0.33954	D	0.644772	P;B	0.42161	0.772;0.171	P;B	0.46940	0.532;0.337	T	0.60632	-0.7225	10	0.44086	T	0.13	.	17.1117	0.86676	0.0:0.8733:0.1267:0.0	.	2012;2013	E7EUY0;P78527	.;PRKDC_HUMAN	K	2012	ENSP00000313420:E2012K;ENSP00000345182:E2012K	ENSP00000313420:E2012K	E	-	1	0	PRKDC	48936034	0.966000	0.33281	0.581000	0.28614	0.565000	0.35776	3.566000	0.53805	1.513000	0.48852	0.650000	0.86243	GAA	PRKDC	-	pfam_NUC194,superfamily_ARM-type_fold	ENSG00000253729		0.313	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		-	0.00	51	0	C	NM_001081640		48773481	-1	tier1	-	no_errors	ENST00000314191	ensembl	human	known	74_37	missense	33.33	24	12	SNP	0.979	T
PRKDC	5591	genome.wustl.edu	37	8	48773490	48773490	+	Missense_Mutation	SNP	C	C	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:48773490C>G	ENST00000314191.2	-	46	6081	c.6025G>C	c.(6025-6027)Gaa>Caa	p.E2009Q	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E2009Q	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2010					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TCTCTGGCTTCTTTCCTAATT	0.303								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													108.0	101.0	103.0					8																	48773490		1815	4072	5887	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6025G>C	8.37:g.48773490C>G	ENSP00000313420:p.Glu2009Gln		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E2009Q	ENST00000314191.2	37	c.6025		8	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603003	0.87157	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.35421	1.31;1.31	6.02	6.02	0.97574	NUC194 (1);Armadillo-type fold (1);	0.055418	0.64402	D	0.000001	T	0.52484	0.1737	M	0.64404	1.975	0.58432	D	0.999999	P;P	0.46277	0.875;0.875	P;P	0.51895	0.683;0.683	T	0.41610	-0.9499	10	0.46703	T	0.11	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	2009;2010	E7EUY0;P78527	.;PRKDC_HUMAN	Q	2009	ENSP00000313420:E2009Q;ENSP00000345182:E2009Q	ENSP00000313420:E2009Q	E	-	1	0	PRKDC	48936043	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	6.231000	0.72307	2.857000	0.98124	0.650000	0.86243	GAA	PRKDC	-	pfam_NUC194,superfamily_ARM-type_fold	ENSG00000253729		0.303	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		-	0.00	42	0	C	NM_001081640		48773490	-1	tier1	-	no_errors	ENST00000314191	ensembl	human	known	74_37	missense	35.48	19	11	SNP	1.000	G
PRKG2	5593	genome.wustl.edu	37	4	82074836	82074836	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:82074836C>T	ENST00000395578.1	-	7	1068	c.952G>A	c.(952-954)Gag>Aag	p.E318K	PRKG2_ENST00000418486.2_Missense_Mutation_p.E318K|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.E318K			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	318					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CTTCCTTCCTCGCCCTCTCTA	0.348																																																	0													98.0	93.0	95.0					4																	82074836		2203	4300	6503	SO:0001583	missense	0			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.952G>A	4.37:g.82074836C>T	ENSP00000378945:p.Glu318Lys		B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin	p.E318K	ENST00000395578.1	37	c.952	CCDS3589.1	4	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922585	0.92319	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	T;T;T	0.35605	1.3;1.3;1.3	6.08	6.08	0.98989	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.094100	0.64402	D	0.000001	T	0.65417	0.2689	M	0.88512	2.96	0.80722	D	1	D;D	0.69078	0.99;0.997	P;P	0.61132	0.833;0.884	T	0.68405	-0.5417	10	0.52906	T	0.07	-31.7037	19.4436	0.94836	0.0:1.0:0.0:0.0	.	318;318	E7EPE6;Q13237	.;KGP2_HUMAN	K	318	ENSP00000378945:E318K;ENSP00000264399:E318K;ENSP00000389038:E318K	ENSP00000264399:E318K	E	-	1	0	PRKG2	82293860	1.000000	0.71417	0.975000	0.42487	0.989000	0.77384	6.498000	0.73679	2.894000	0.99253	0.591000	0.81541	GAG	PRKG2	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom	ENSG00000138669		0.348	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG2	HGNC	protein_coding	OTTHUMT00000252639.1	-	0.00	47	0	C	NM_006259		82074836	-1	tier1	-	no_errors	ENST00000264399	ensembl	human	known	74_37	missense	34.78	15	8	SNP	0.998	T
PRPF4B	8899	genome.wustl.edu	37	6	4044110	4044110	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:4044110A>G	ENST00000337659.6	+	6	1814	c.1714A>G	c.(1714-1716)Agc>Ggc	p.S572G	PRPF4B_ENST00000538861.1_Missense_Mutation_p.S558G	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	572					mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CAGCCCCCAGAGCAGTACGAG	0.403																																																	0													91.0	85.0	87.0					6																	4044110		2203	4300	6503	SO:0001583	missense	0			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.1714A>G	6.37:g.4044110A>G	ENSP00000337194:p.Ser572Gly		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	pfam_Prot_kinase_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_dom	p.S572G	ENST00000337659.6	37	c.1714	CCDS4488.1	6	.	.	.	.	.	.	.	.	.	.	A	20.4	3.989906	0.74589	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.70516	-0.48;-0.49	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.75766	0.3894	M	0.64404	1.975	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.76900	-0.2788	10	0.46703	T	0.11	.	15.6454	0.77046	1.0:0.0:0.0:0.0	.	572	Q13523	PRP4B_HUMAN	G	572;558	ENSP00000337194:S572G;ENSP00000439331:S558G	ENSP00000337194:S572G	S	+	1	0	PRPF4B	3989109	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.788000	0.91834	2.157000	0.67596	0.528000	0.53228	AGC	PRPF4B	-	NULL	ENSG00000112739		0.403	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF4B	HGNC	protein_coding	OTTHUMT00000314018.2	-	0.00	47	0	A			4044110	+1	tier1	-	no_errors	ENST00000337659	ensembl	human	known	74_37	missense	6.35	58	4	SNP	1.000	G
PRR16	51334	genome.wustl.edu	37	5	119800333	119800333	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:119800333T>C	ENST00000407149.2	+	1	361	c.152T>C	c.(151-153)cTt>cCt	p.L51P	PRR16_ENST00000379551.2_5'UTR			Q569H4	LARGN_HUMAN	proline rich 16	51					positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GCCAAGGAACTTAAGGAGGTG	0.582																																																	0													11.0	10.0	11.0					5																	119800333		875	1984	2859	SO:0001583	missense	0			AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.152T>C	5.37:g.119800333T>C	ENSP00000385118:p.Leu51Pro		D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	NULL	p.L51P	ENST00000407149.2	37	c.152		5	.	.	.	.	.	.	.	.	.	.	T	16.59	3.165786	0.57476	.	.	ENSG00000184838	ENST00000407149	T	0.63096	-0.02	4.57	4.57	0.56435	.	.	.	.	.	T	0.77274	0.4106	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78687	-0.2107	7	.	.	.	-3.1326	13.2302	0.59938	0.0:0.0:0.0:1.0	.	51	Q569H4	PRR16_HUMAN	P	51	ENSP00000385118:L51P	.	L	+	2	0	PRR16	119828232	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.694000	0.68272	1.829000	0.53265	0.459000	0.35465	CTT	PRR16	-	NULL	ENSG00000184838		0.582	PRR16-002	KNOWN	basic|appris_principal	protein_coding	PRR16	HGNC	protein_coding	OTTHUMT00000371059.1	-	0.00	48	0	T	NM_016644		119800333	+1	tier1	-	no_errors	ENST00000407149	ensembl	human	known	74_37	missense	15.69	43	8	SNP	1.000	C
PSKH1	5681	genome.wustl.edu	37	16	67961376	67961376	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:67961376G>T	ENST00000291041.5	+	3	1276	c.1106G>T	c.(1105-1107)cGc>cTc	p.R369L		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	369						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		AACCTGCACCGCTCCATATCC	0.607																																																	0													99.0	86.0	91.0					16																	67961376		2198	4300	6498	SO:0001583	missense	0			M14504	CCDS10851.1	16q22.1	2008-02-05			ENSG00000159792	ENSG00000159792			9529	protein-coding gene	gene with protein product		177015				8268911	Standard	NM_006742		Approved		uc002euv.3	P11801	OTTHUMG00000137548	ENST00000291041.5:c.1106G>T	16.37:g.67961376G>T	ENSP00000291041:p.Arg369Leu		Q9NY19	Missense_Mutation	SNP	pfam_Prot_kinase_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_dom	p.R369L	ENST00000291041.5	37	c.1106	CCDS10851.1	16	.	.	.	.	.	.	.	.	.	.	G	35	5.428751	0.96131	.	.	ENSG00000159792	ENST00000291041	T	0.37915	1.17	5.19	5.19	0.71726	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.47948	0.1473	M	0.70275	2.135	0.80722	D	1	P	0.46621	0.881	P	0.46685	0.524	T	0.48843	-0.8999	10	0.44086	T	0.13	-11.2996	18.688	0.91573	0.0:0.0:1.0:0.0	.	369	P11801	KPSH1_HUMAN	L	369	ENSP00000291041:R369L	ENSP00000291041:R369L	R	+	2	0	PSKH1	66518877	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.578000	0.87016	0.655000	0.94253	CGC	PSKH1	-	superfamily_Kinase-like_dom	ENSG00000159792		0.607	PSKH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSKH1	HGNC	protein_coding	OTTHUMT00000268882.3	-	0.00	53	0	G	NM_006742		67961376	+1	tier1	-	no_errors	ENST00000291041	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T
PTPRD	5789	genome.wustl.edu	37	9	8341195	8341195	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:8341195C>T	ENST00000381196.4	-	38	5564	c.5021G>A	c.(5020-5022)cGc>cAc	p.R1674H	PTPRD_ENST00000537002.1_Missense_Mutation_p.R1264H|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1661H|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1652H|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1268H|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1267H|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1267H|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1674H|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1674H|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1267H|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1264H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1674	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATTAACAAGGCGATTTTTGAA	0.388										TSP Lung(15;0.13)																																							0													192.0	205.0	201.0					9																	8341195		2203	4300	6503	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5021G>A	9.37:g.8341195C>T	ENSP00000370593:p.Arg1674His		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.R1674H	ENST00000381196.4	37	c.5021	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842492	0.91197	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.048867	0.85682	D	0.000000	T	0.80808	0.4694	H	0.99847	4.84	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0;0.999;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D	0.85130	0.984;0.984;0.984;0.984;0.997;0.972;0.997;0.948;0.994	D	0.89092	0.3483	9	.	.	.	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1267;1258;1267;1268;1264;1264;1661;1674;1674	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	H	1674;1674;1661;1652;1268;1267;1264;1264;1145;1674;1267;1267	ENSP00000370593:R1674H;ENSP00000348812:R1674H;ENSP00000353187:R1661H;ENSP00000351293:R1652H;ENSP00000347373:R1268H;ENSP00000380741:R1267H;ENSP00000380735:R1264H;ENSP00000440515:R1264H;ENSP00000438164:R1674H;ENSP00000417093:R1267H;ENSP00000380731:R1267H	.	R	-	2	0	PTPRD	8331195	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	CGC	PTPRD	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000153707		0.388	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0.00	47	0	C			8341195	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	64.71	6	11	SNP	1.000	T
PTBP3	9991	genome.wustl.edu	37	9	115024805	115024805	+	Silent	SNP	A	A	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:115024805A>G	ENST00000374255.2	-	6	657	c.510T>C	c.(508-510)aaT>aaC	p.N170N	PTBP3_ENST00000374257.1_Silent_p.N142N|PTBP3_ENST00000343327.2_Silent_p.N75N|PTBP3_ENST00000487997.1_5'UTR|PTBP3_ENST00000458258.1_Silent_p.N176N|PTBP3_ENST00000334318.6_Silent_p.N173N			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	170					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)										CTGTGCCTTCATTGGAAGGAC	0.502																																																	0													70.0	68.0	69.0					9																	115024805		2203	4300	6503	SO:0001819	synonymous_variant	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.510T>C	9.37:g.115024805A>G			B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.N176	ENST00000374255.2	37	c.528	CCDS6784.1	9																																																																																			PTBP3	-	tigrfam_HnRNP-L_PTB	ENSG00000119314		0.502	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP3	HGNC	protein_coding	OTTHUMT00000053679.1	-	0.00	54	0	A			115024805	-1	tier1	-	no_errors	ENST00000458258	ensembl	human	known	74_37	silent	32.14	19	9	SNP	0.838	G
PXK	54899	genome.wustl.edu	37	3	58385044	58385044	+	Missense_Mutation	SNP	C	C	T	rs375086738		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:58385044C>T	ENST00000356151.2	+	12	1230	c.1121C>T	c.(1120-1122)aCg>aTg	p.T374M	PXK_ENST00000302779.5_Missense_Mutation_p.T357M|PXK_ENST00000484288.1_Missense_Mutation_p.T374M|PXK_ENST00000536660.1_Missense_Mutation_p.T237M|PXK_ENST00000463280.1_Missense_Mutation_p.T341M|PXK_ENST00000479241.1_Missense_Mutation_p.T357M|PXK_ENST00000383716.3_Missense_Mutation_p.T341M|PXK_ENST00000383715.4_Missense_Mutation_p.T357M	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		TTGGAGTCTACGCTGTCTTGT	0.428																																																	0								C	MET/THR	0,4406		0,0,2203	197.0	165.0	176.0		1121	4.8	1.0	3		176	1,8599	1.2+/-3.3	0,1,4299	no	missense	PXK	NM_017771.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	374/579	58385044	1,13005	2203	4300	6503	SO:0001583	missense	0			AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.1121C>T	3.37:g.58385044C>T	ENSP00000348472:p.Thr374Met			Missense_Mutation	SNP	pfam_Phox,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Phox,superfamily_Kinase-like_dom,smart_Phox,pfscan_Phox,pfscan_WH2_dom,pfscan_Prot_kinase_dom	p.T374M	ENST00000356151.2	37	c.1121	CCDS2889.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	3.998723|3.998723	0.74818|0.74818	0.0|0.0	1.16E-4|1.16E-4	ENSG00000168297|ENSG00000168297	ENST00000479134|ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660;ENST00000536750	.|T;T;T;T;T;T;T;T	.|0.30981	.|2.28;2.27;2.27;1.53;1.53;1.53;1.51;2.27	5.87|5.87	4.78|4.78	0.61160|0.61160	.|Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.129865	.|0.64402	.|D	.|0.000003	T|T	0.19644|0.19644	0.0472|0.0472	N|N	0.08118|0.08118	0|0	0.36692|0.36692	D|D	0.879648|0.879648	.|D;P;D;P;P;P	.|0.56746	.|0.96;0.895;0.977;0.932;0.895;0.938	.|B;B;P;P;B;B	.|0.50270	.|0.438;0.216;0.636;0.517;0.308;0.308	T|T	0.06285|0.06285	-1.0835|-1.0835	5|10	.|0.72032	.|D	.|0.01	-14.2952|-14.2952	4.4051|4.4051	0.11406|0.11406	0.0:0.7087:0.0:0.2913|0.0:0.7087:0.0:0.2913	.|.	.|341;341;341;374;357;374	.|E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2	.|.;.;.;PXK_HUMAN;.;.	C|M	129|374;357;341;341;357;374;357;237;237	.|ENSP00000348472:T374M;ENSP00000305045:T357M;ENSP00000373222:T341M;ENSP00000417903:T341M;ENSP00000373221:T357M;ENSP00000417915:T374M;ENSP00000419049:T357M;ENSP00000438356:T237M	.|ENSP00000305045:T357M	R|T	+|+	1|2	0|0	PXK|PXK	58360084|58360084	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.821000|4.821000	0.62679|0.62679	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGC|ACG	PXK	-	superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	ENSG00000168297		0.428	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXK	HGNC	protein_coding	OTTHUMT00000353499.1	-	0.00	86	0	C	NM_017771		58385044	+1	tier1	-	no_errors	ENST00000356151	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T
PZP	5858	genome.wustl.edu	37	12	9303324	9303324	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:9303324T>G	ENST00000261336.2	-	34	4328	c.4300A>C	c.(4300-4302)Agt>Cgt	p.S1434R	PZP_ENST00000381997.2_Missense_Mutation_p.S1220R	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1434					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AAGGAAAAACTTAGCGTCTGA	0.383																																					Melanoma(125;1402 1695 4685 34487 38571)												0													110.0	106.0	108.0					12																	9303324		2203	4300	6503	SO:0001583	missense	0			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.4300A>C	12.37:g.9303324T>G	ENSP00000261336:p.Ser1434Arg		A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.S1434R	ENST00000261336.2	37	c.4300	CCDS8600.1	12	.	.	.	.	.	.	.	.	.	.	T	5.687	0.311262	0.10789	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.22134	1.97;1.97	3.95	2.72	0.32119	Alpha-macroglobulin, receptor-binding (3);	1.354810	0.05109	U	0.488557	T	0.46521	0.1397	M	0.82132	2.575	0.09310	N	1	P;D	0.69078	0.817;0.997	B;D	0.68765	0.258;0.96	T	0.03597	-1.1021	10	0.62326	D	0.03	.	5.3898	0.16237	0.1753:0.0:0.1816:0.6431	.	1220;1434	P20742-2;P20742	.;PZP_HUMAN	R	1434;1220	ENSP00000261336:S1434R;ENSP00000371427:S1220R	ENSP00000261336:S1434R	S	-	1	0	PZP	9194591	0.001000	0.12720	0.001000	0.08648	0.020000	0.10135	0.879000	0.28146	0.571000	0.29365	0.460000	0.39030	AGT	PZP	-	pfam_A-macroglobulin_rcpt-bd,superfamily_A-macroglobulin_rcpt-bd	ENSG00000126838		0.383	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	HGNC	protein_coding	OTTHUMT00000337624.1	-	0.00	50	0	T	NM_002864		9303324	-1	tier1	-	no_errors	ENST00000261336	ensembl	human	known	74_37	missense	60.00	12	18	SNP	0.019	G
RALGPS2	55103	genome.wustl.edu	37	1	178855160	178855160	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:178855160G>A	ENST00000367635.3	+	13	1435	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	RALGPS2_ENST00000367634.2_Missense_Mutation_p.G366E|RALGPS2_ENST00000477383.1_3'UTR	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	366					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CCAAATGCAGGACCAAGACAT	0.378																																																	0													81.0	83.0	82.0					1																	178855160		2203	4300	6503	SO:0001583	missense	0			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.1097G>A	1.37:g.178855160G>A	ENSP00000356607:p.Gly366Glu		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.G366E	ENST00000367635.3	37	c.1097	CCDS1325.1	1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216686	0.58452	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778;ENST00000535251	T;T;T	0.48836	0.8;0.8;0.8	5.55	5.55	0.83447	.	0.180517	0.47852	D	0.000214	T	0.44350	0.1289	L	0.56769	1.78	0.80722	D	1	P;P	0.39376	0.67;0.67	B;B	0.33521	0.165;0.13	T	0.36480	-0.9746	10	0.19590	T	0.45	.	19.111	0.93317	0.0:0.0:1.0:0.0	.	366;366	B7Z7B1;Q86X27	.;RGPS2_HUMAN	E	366;366;331;15	ENSP00000356607:G366E;ENSP00000356606:G366E;ENSP00000313613:G331E	ENSP00000313613:G331E	G	+	2	0	RALGPS2	177121783	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	9.255000	0.95524	2.623000	0.88846	0.655000	0.94253	GGA	RALGPS2	-	NULL	ENSG00000116191		0.378	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS2	HGNC	protein_coding	OTTHUMT00000084926.2	-	0.00	43	0	G	NM_152663		178855160	+1	tier1	-	no_errors	ENST00000367635	ensembl	human	known	74_37	missense	24.00	38	12	SNP	1.000	A
RASGRP3	25780	genome.wustl.edu	37	2	33736895	33736895	+	5'UTR	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:33736895G>A	ENST00000403687.3	+	0	599				RASGRP3_ENST00000407811.1_5'Flank|RASGRP3_ENST00000402538.3_5'UTR	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)						MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					AACTGTATCTGTATGGAAACA	0.318																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.-142G>A	2.37:g.33736895G>A			D6W583|O94931|Q53SD7	RNA	SNP	-	NULL	ENST00000403687.3	37	NULL	CCDS46256.1	2																																																																																			RASGRP3	-	-	ENSG00000152689		0.318	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	RASGRP3	HGNC	protein_coding	OTTHUMT00000325462.2	-	0.00	41	0	G	NM_015376		33736895	+1	tier1	-	no_errors	ENST00000497723	ensembl	human	known	74_37	rna	35.14	23	13	SNP	0.001	A
RBM27	54439	genome.wustl.edu	37	5	145608578	145608578	+	Missense_Mutation	SNP	C	C	T	rs199578137		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:145608578C>T	ENST00000265271.5	+	4	539	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	RBM27_ENST00000506502.1_Missense_Mutation_p.R125C	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	125					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGAAGACTCGTTCAGAATC	0.368																																																	0								C	CYS/ARG	0,3136		0,0,1568	147.0	144.0	145.0		373	4.6	1.0	5		145	1,7163		0,1,3581	no	missense	RBM27	NM_018989.1	180	0,1,5149	TT,TC,CC		0.014,0.0,0.0097	probably-damaging	125/1061	145608578	1,10299	1568	3582	5150	SO:0001583	missense	0			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.373C>T	5.37:g.145608578C>T	ENSP00000265271:p.Arg125Cys		Q8IYW9	Missense_Mutation	SNP	pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.R125C	ENST00000265271.5	37	c.373	CCDS43378.1	5	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146650	0.77888	0.0	1.4E-4	ENSG00000091009	ENST00000265271	T	0.54479	0.57	5.56	4.63	0.57726	.	0.245457	0.35772	N	0.002990	T	0.50905	0.1643	L	0.40543	1.245	0.58432	D	0.999999	D;D	0.69078	0.997;0.995	P;P	0.47162	0.535;0.54	T	0.56998	-0.7886	10	0.66056	D	0.02	-5.5519	15.8759	0.79162	0.0:0.8644:0.1356:0.0	.	125;125	Q9P2N5;B3KY61	RBM27_HUMAN;.	C	125	ENSP00000265271:R125C	ENSP00000265271:R125C	R	+	1	0	RBM27	145588771	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.099000	0.57755	2.609000	0.88269	0.591000	0.81541	CGT	RBM27	-	NULL	ENSG00000091009		0.368	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	-	0.00	42	0	C	XM_291128		145608578	+1	tier1	rs199578137	no_errors	ENST00000265271	ensembl	human	known	74_37	missense	23.53	26	8	SNP	1.000	T
RC3H1	149041	genome.wustl.edu	37	1	173933253	173933253	+	Silent	SNP	T	T	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:173933253T>A	ENST00000367696.2	-	11	2040	c.1689A>T	c.(1687-1689)gcA>gcT	p.A563A	RC3H1_ENST00000258349.4_Silent_p.A563A|RC3H1_ENST00000367694.2_Silent_p.A563A			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	563	Pro-rich.				B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GAGGCAGATCTGCTGGCCCCC	0.438																																																	0													117.0	114.0	115.0					1																	173933253		2203	4300	6503	SO:0001819	synonymous_variant	0			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.1689A>T	1.37:g.173933253T>A			B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Silent	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.A563	ENST00000367696.2	37	c.1689	CCDS30940.1	1																																																																																			RC3H1	-	NULL	ENSG00000135870		0.438	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H1	HGNC	protein_coding	OTTHUMT00000090733.2	-	0.00	93	0	T	NM_172071		173933253	-1	tier1	-	no_errors	ENST00000258349	ensembl	human	known	74_37	silent	5.97	63	4	SNP	1.000	A
RCVRN	5957	genome.wustl.edu	37	17	9808302	9808302	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:9808302C>T	ENST00000226193.5	-	1	636	c.196G>A	c.(196-198)Gcc>Acc	p.A66T		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	66	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						ACATGCTGGGCGTAGGCCTTG	0.612																																																	0													152.0	116.0	128.0					17																	9808302		2203	4300	6503	SO:0001583	missense	0			BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"""EF-hand domain containing"""	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.196G>A	17.37:g.9808302C>T	ENSP00000226193:p.Ala66Thr		Q53XL0	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.A66T	ENST00000226193.5	37	c.196	CCDS11151.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.334273	0.95758	.	.	ENSG00000109047	ENST00000226193	T	0.79653	-1.29	4.67	4.67	0.58626	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90202	0.6937	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.68483	0.958	D	0.92095	0.5683	10	0.87932	D	0	.	15.4139	0.74948	0.0:1.0:0.0:0.0	.	66	P35243	RECO_HUMAN	T	66	ENSP00000226193:A66T	ENSP00000226193:A66T	A	-	1	0	RCVRN	9749027	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	7.712000	0.84684	2.302000	0.77476	0.655000	0.94253	GCC	RCVRN	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000109047		0.612	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCVRN	HGNC	protein_coding	OTTHUMT00000252600.2	-	0.00	56	0	C	NM_002903		9808302	-1	tier1	-	no_errors	ENST00000226193	ensembl	human	known	74_37	missense	26.92	19	7	SNP	1.000	T
REV1	51455	genome.wustl.edu	37	2	100046332	100046332	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:100046332G>A	ENST00000258428.3	-	9	1745	c.1517C>T	c.(1516-1518)gCt>gTt	p.A506V	REV1_ENST00000393445.3_Missense_Mutation_p.A505V|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	506	UmuC. {ECO:0000255|PROSITE- ProRule:PRU00216}.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCAATTTCAGCCCTTGACAA	0.299								Direct reversal of damage																																									0													84.0	79.0	81.0					2																	100046332		2203	4300	6503	SO:0001583	missense	0			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.1517C>T	2.37:g.100046332G>A	ENSP00000258428:p.Ala506Val		O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N	p.A506V	ENST00000258428.3	37	c.1517	CCDS2045.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.133522	0.94517	.	.	ENSG00000135945	ENST00000393445;ENST00000258428;ENST00000450415	T;T;T	0.71461	-0.57;-0.57;-0.57	5.52	5.52	0.82312	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.049656	0.85682	D	0.000000	D	0.84306	0.5443	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.85391	0.1125	10	0.72032	D	0.01	.	19.4462	0.94847	0.0:0.0:1.0:0.0	.	506;505	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	V	505;506;143	ENSP00000377091:A505V;ENSP00000258428:A506V;ENSP00000414875:A143V	ENSP00000258428:A506V	A	-	2	0	REV1	99412764	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	8.872000	0.92352	2.583000	0.87209	0.650000	0.86243	GCT	REV1	-	pfam_DNA_repair_prot_UmuC-like,pirsf_REV1,pfscan_DNA_repair_prot_UmuC-like_N	ENSG00000135945		0.299	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REV1	HGNC	protein_coding	OTTHUMT00000253123.2	-	0.00	28	0	G	NM_016316		100046332	-1	tier1	-	no_errors	ENST00000258428	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	A
REV3L	5980	genome.wustl.edu	37	6	111628686	111628686	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:111628686C>T	ENST00000358835.3	-	32	9584	c.9130G>A	c.(9130-9132)Gtg>Atg	p.V3044M	REV3L_ENST00000368802.3_Missense_Mutation_p.V3044M|REV3L_ENST00000462119.1_5'UTR|RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000368805.1_Missense_Mutation_p.V3044M|REV3L_ENST00000435970.1_Missense_Mutation_p.V2966M			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	3044					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCATCACACACAGGACAGTGT	0.458								DNA polymerases (catalytic subunits)																																									0													199.0	166.0	177.0					6																	111628686		2203	4300	6503	SO:0001583	missense	0			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.9130G>A	6.37:g.111628686C>T	ENSP00000351697:p.Val3044Met		O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.V3044M	ENST00000358835.3	37	c.9130	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	C	33	5.276423	0.95459	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.71	5.71	0.89125	.	0.963722	0.08540	N	0.930700	T	0.68632	0.3022	M	0.79123	2.44	0.49299	D	0.999776	D	0.69078	0.997	D	0.72625	0.978	T	0.64575	-0.6375	10	0.62326	D	0.03	-3.8807	19.8505	0.96738	0.0:1.0:0.0:0.0	.	3044	O60673	DPOLZ_HUMAN	M	3044;3044;3044;2966	ENSP00000357792:V3044M;ENSP00000357795:V3044M;ENSP00000351697:V3044M;ENSP00000402003:V2966M	ENSP00000351697:V3044M	V	-	1	0	REV3L	111735379	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.599000	0.82757	2.688000	0.91661	0.655000	0.94253	GTG	REV3L	-	NULL	ENSG00000009413		0.458	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1		0.00	66	0	C	NM_002912		111628686	-1			no_errors	ENST00000358835	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T
RGS18	64407	genome.wustl.edu	37	1	192129603	192129603	+	Intron	SNP	T	T	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:192129603T>G	ENST00000367460.3	+	3	464				RGS18_ENST00000481707.1_Intron	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18						G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTTGTGTGCTTAATGGAAAA	0.348																																																	0													87.0	76.0	80.0					1																	192129603		2203	4300	6503	SO:0001627	intron_variant	0			AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"""Regulators of G-protein signaling"""	14261	protein-coding gene	gene with protein product		607192	"""regulator of G-protein signalling 18"""			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.283+34T>G	1.37:g.192129603T>G			B2RD23	RNA	SNP	-	NULL	ENST00000367460.3	37	NULL	CCDS1374.1	1																																																																																			RGS18	-	-	ENSG00000150681		0.348	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS18	HGNC	protein_coding	OTTHUMT00000086382.1	-	0.00	45	0	T	NM_130782		192129603	+1	tier1	-	no_errors	ENST00000491030	ensembl	human	known	74_37	rna	22.92	37	11	SNP	0.007	G
RIMBP2	23504	genome.wustl.edu	37	12	130884319	130884319	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:130884319A>C	ENST00000261655.4	-	18	3200	c.3037T>G	c.(3037-3039)Ttc>Gtc	p.F1013V		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	1013	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCTTCCAAGAAGTTTGAGGGC	0.463																																																	0													114.0	103.0	106.0					12																	130884319		2203	4300	6503	SO:0001583	missense	0			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.3037T>G	12.37:g.130884319A>C	ENSP00000261655:p.Phe1013Val		Q96ID2	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.F1013V	ENST00000261655.4	37	c.3037	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	A	27.1	4.800618	0.90538	.	.	ENSG00000060709	ENST00000261655;ENST00000536632	T;T	0.53857	0.6;0.6	5.32	5.32	0.75619	Src homology-3 domain (4);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.73961	0.3654	M	0.79693	2.465	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.78489	-0.2184	10	0.87932	D	0	-33.4778	15.3201	0.74115	1.0:0.0:0.0:0.0	.	1013	O15034	RIMB2_HUMAN	V	1013;150	ENSP00000261655:F1013V;ENSP00000439030:F150V	ENSP00000261655:F1013V	F	-	1	0	RIMBP2	129450272	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.898000	0.92538	2.028000	0.59812	0.392000	0.25879	TTC	RIMBP2	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	ENSG00000060709		0.463	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1	-	0.00	45	0	A	NM_015347		130884319	-1	tier1	-	no_errors	ENST00000261655	ensembl	human	known	74_37	missense	24.44	34	11	SNP	1.000	C
RIMS1	22999	genome.wustl.edu	37	6	72889338	72889338	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:72889338T>C	ENST00000521978.1	+	5	532	c.532T>C	c.(532-534)Tgg>Cgg	p.W178R	RIMS1_ENST00000348717.5_Missense_Mutation_p.W178R|RIMS1_ENST00000264839.7_Missense_Mutation_p.W178R|RIMS1_ENST00000491071.2_Missense_Mutation_p.W178R|RIMS1_ENST00000517960.1_Missense_Mutation_p.W178R|RIMS1_ENST00000522291.1_Missense_Mutation_p.W178R|RIMS1_ENST00000518273.1_Missense_Mutation_p.W178R|RIMS1_ENST00000520567.1_Missense_Mutation_p.W178R	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	178	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATCTGGGGCATGGTTCTTTGG	0.423																																																	0													45.0	47.0	47.0					6																	72889338		1923	4121	6044	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.532T>C	6.37:g.72889338T>C	ENSP00000428417:p.Trp178Arg		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.W178R	ENST00000521978.1	37	c.532	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	T	22.7	4.322715	0.81580	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	D;T;D;D;D;D;D;D	0.88975	-2.45;-1.23;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	5.65	5.65	0.86999	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000009	D	0.94588	0.8256	M	0.88775	2.98	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	D	0.95570	0.8637	10	0.87932	D	0	-11.6177	15.8848	0.79238	0.0:0.0:0.0:1.0	.	178	Q86UR5	RIMS1_HUMAN	R	178	ENSP00000430101:W178R;ENSP00000275037:W178R;ENSP00000264839:W178R;ENSP00000429959:W178R;ENSP00000430408:W178R;ENSP00000430502:W178R;ENSP00000430932:W178R;ENSP00000428417:W178R	ENSP00000264839:W178R	W	+	1	0	RIMS1	72946059	1.000000	0.71417	0.964000	0.40570	0.975000	0.68041	8.040000	0.89188	2.156000	0.67533	0.533000	0.62120	TGG	RIMS1	-	superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	ENSG00000079841		0.423	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0.00	46	0	T			72889338	+1	tier1	-	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	48.00	13	12	SNP	0.999	C
RIMS1	22999	genome.wustl.edu	37	6	72889607	72889607	+	Silent	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:72889607T>C	ENST00000521978.1	+	5	801	c.801T>C	c.(799-801)ccT>ccC	p.P267P	RIMS1_ENST00000348717.5_Silent_p.P267P|RIMS1_ENST00000264839.7_Silent_p.P267P|RIMS1_ENST00000491071.2_Silent_p.P267P|RIMS1_ENST00000517960.1_Silent_p.P267P|RIMS1_ENST00000522291.1_Silent_p.P267P|RIMS1_ENST00000518273.1_Silent_p.P267P|RIMS1_ENST00000520567.1_Silent_p.P267P	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	267					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GAAGTGAACCTCCTAGAGAGA	0.498																																																	0													25.0	26.0	26.0					6																	72889607		1971	4153	6124	SO:0001819	synonymous_variant	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.801T>C	6.37:g.72889607T>C			A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.P267	ENST00000521978.1	37	c.801	CCDS47449.1	6																																																																																			RIMS1	-	NULL	ENSG00000079841		0.498	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0.00	44	0	T			72889607	+1	tier1	-	no_errors	ENST00000521978	ensembl	human	known	74_37	silent	50.00	9	9	SNP	0.999	C
RIMS1	22999	genome.wustl.edu	37	6	72922921	72922921	+	Intron	SNP	T	T	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:72922921T>G	ENST00000521978.1	+	7	1678				RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000401910.3_Silent_p.V32V|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000523963.1_Silent_p.V32V	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1						calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GACGAGCAGTTGCTGGTAAGC	0.423																																																	0													194.0	169.0	177.0					6																	72922921		692	1591	2283	SO:0001627	intron_variant	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.1679-20555T>G	6.37:g.72922921T>G			A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.V32	ENST00000521978.1	37	c.96	CCDS47449.1	6																																																																																			RIMS1	-	NULL	ENSG00000079841		0.423	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0.00	22	0	T			72922921	+1	tier1	-	no_errors	ENST00000401910	ensembl	human	putative	74_37	silent	45.45	12	10	SNP	0.448	G
RIMS1	22999	genome.wustl.edu	37	6	73043483	73043483	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:73043483A>C	ENST00000521978.1	+	29	4311	c.4311A>C	c.(4309-4311)aaA>aaC	p.K1437N	RIMS1_ENST00000348717.5_Missense_Mutation_p.K1220N|RIMS1_ENST00000538414.1_Missense_Mutation_p.K243N|RIMS1_ENST00000264839.7_Missense_Mutation_p.K1286N|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000401910.3_Missense_Mutation_p.K757N|RIMS1_ENST00000491071.2_Missense_Mutation_p.K1260N|RIMS1_ENST00000517960.1_Missense_Mutation_p.K1220N|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000523963.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1437					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TTAGTGCCAAAGTGGTTGCCA	0.468																																																	0													77.0	81.0	79.0					6																	73043483		2032	4192	6224	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4311A>C	6.37:g.73043483A>C	ENSP00000428417:p.Lys1437Asn		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.K1437N	ENST00000521978.1	37	c.4311	CCDS47449.1	6	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	18.14|18.14|18.14	3.557994|3.557994|3.557994	0.65538|0.65538|0.65538	.|.|.	.|.|.	ENSG00000079841|ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000264839;ENST00000517960;ENST00000521978;ENST00000401910;ENST00000453976;ENST00000370420;ENST00000538414|ENST00000522211|ENST00000517433	T;T;T;T;T;T;T;T;T|T|.	0.22945|0.24723|.	2.18;2.31;2.29;2.18;2.27;2.36;2.04;1.93;1.93|1.84|.	5.57|5.57|5.57	-2.58|-2.58|-2.58	0.06228|0.06228|0.06228	.|.|.	0.077507|0.077507|.	0.52532|0.52532|.	D|D|.	0.000064|0.000064|.	T|T|T	0.42585|0.42585|0.42585	0.1209|0.1209|0.1209	L|L|L	0.52905|0.52905|0.52905	1.665|1.665|1.665	0.38934|0.38934|0.38934	D|D|D	0.958001|0.958001|0.958001	P;D;P;B;D;P;D|.|.	0.64830|.|.	0.928;0.994;0.928;0.048;0.979;0.799;0.993|.|.	P;D;P;B;P;B;D|.|.	0.74348|.|.	0.597;0.983;0.515;0.043;0.702;0.202;0.977|.|.	T|T|T	0.49643|0.49643|0.49643	-0.8918|-0.8918|-0.8918	10|8|5	0.51188|0.87932|.	T|D|.	0.08|0|.	-21.5539|-21.5539|-21.5539	11.3213|11.3213|11.3213	0.49424|0.49424|0.49424	0.6603:0.0:0.3397:0.0|0.6603:0.0:0.3397:0.0|0.6603:0.0:0.3397:0.0	.|.|.	243;1286;757;1220;513;1260;1437|.|.	B7Z7W2;E9PHR1;E9PF48;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.|.	.;.;.;.;.;.;RIMS1_HUMAN|.|.	N|T|R	1260;1286;1260;1220;1286;1220;1437;757;602;485;243|355|783	ENSP00000430101:K1260N;ENSP00000275037:K1220N;ENSP00000264839:K1286N;ENSP00000429959:K1220N;ENSP00000428417:K1437N;ENSP00000385649:K757N;ENSP00000389503:K602N;ENSP00000359448:K485N;ENSP00000439730:K243N|ENSP00000429338:K355T|.	ENSP00000264839:K1286N|ENSP00000429338:K355T|.	K|K|S	+|+|+	3|2|1	2|0|0	RIMS1|RIMS1|RIMS1	73100204|73100204|73100204	0.778000|0.778000|0.778000	0.28640|0.28640|0.28640	0.973000|0.973000|0.973000	0.42090|0.42090|0.42090	0.785000|0.785000|0.785000	0.44390|0.44390|0.44390	0.071000|0.071000|0.071000	0.14594|0.14594|0.14594	-0.604000|-0.604000|-0.604000	0.05760|0.05760|0.05760	-0.361000|-0.361000|-0.361000	0.07541|0.07541|0.07541	AAA|AAG|AGT	RIMS1	-	NULL	ENSG00000079841		0.468	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0.00	30	0	A			73043483	+1	tier1	-	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	54.17	11	13	SNP	0.995	C
RLF	6018	genome.wustl.edu	37	1	40697233	40697233	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:40697233C>A	ENST00000372771.4	+	7	1019	c.992C>A	c.(991-993)cCt>cAt	p.P331H		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	331					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGAATTGACCCTTCTTTAGAT	0.363																																																	0													109.0	108.0	108.0					1																	40697233		2203	4300	6503	SO:0001583	missense	0				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.992C>A	1.37:g.40697233C>A	ENSP00000361857:p.Pro331His		Q14CQ1|Q9NU60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P331H	ENST00000372771.4	37	c.992	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502224	0.85176	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.41065	1.01	5.89	5.89	0.94794	.	0.267345	0.44483	D	0.000443	T	0.67050	0.2852	M	0.71581	2.175	0.43766	D	0.996289	D;D	0.89917	1.0;0.994	D;P	0.85130	0.997;0.831	T	0.67783	-0.5581	10	0.87932	D	0	-6.0911	20.2576	0.98430	0.0:1.0:0.0:0.0	.	24;331	F5H2M5;Q13129	.;RLF_HUMAN	H	331;24	ENSP00000361857:P331H	ENSP00000361857:P331H	P	+	2	0	RLF	40469820	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.618000	0.61211	2.783000	0.95769	0.655000	0.94253	CCT	RLF	-	NULL	ENSG00000117000		0.363	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1		0.00	54	0	C	NM_012421		40697233	+1			no_errors	ENST00000372771	ensembl	human	known	74_37	missense	7.89	35	3	SNP	1.000	A
CTC-457E21.6	0	genome.wustl.edu	37	19	22784354	22784354	+	RNA	SNP	A	A	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:22784354A>C	ENST00000599738.1	+	0	0				RN7SL860P_ENST00000473738.2_RNA|AC011467.1_ENST00000408863.1_RNA|CTC-457E21.3_ENST00000600260.1_RNA																							ttctgcgttaagttcggcatc	0.557																																																	0																																												0																															19.37:g.22784354A>C				RNA	SNP	-	NULL	ENST00000599738.1	37	NULL		19																																																																																			RN7SL860P	-	-	ENSG00000240713		0.557	CTC-457E21.6-001	KNOWN	basic|readthrough_transcript	processed_transcript	RN7SL860P	HGNC	processed_transcript	OTTHUMT00000464575.1	-	0.00	60	0	A			22784354	+1	tier1	-	no_errors	ENST00000473738	ensembl	human	known	74_37	rna	21.21	26	7	SNP	0.046	C
RNF145	153830	genome.wustl.edu	37	5	158634791	158634791	+	Intron	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:158634791C>T	ENST00000424310.2	-	1	321				RNF145_ENST00000521606.2_Intron|RNF145_ENST00000519865.1_Intron|RNF145_ENST00000520638.1_5'Flank|CTB-11I22.1_ENST00000521204.1_RNA|RNF145_ENST00000518802.1_Intron|RNF145_ENST00000274542.2_Missense_Mutation_p.R6K	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTAGCAATTCTGTGGTTTCT	0.423																																																	0													297.0	294.0	295.0					5																	158634791		2203	4300	6503	SO:0001627	intron_variant	0			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.38+1447G>A	5.37:g.158634791C>T			B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.R6K	ENST00000424310.2	37	c.17	CCDS56390.1	5	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547170	0.45383	.	.	ENSG00000145860	ENST00000274542	T	0.77229	-1.08	3.87	2.99	0.34606	.	.	.	.	.	T	0.67069	0.2854	.	.	.	0.23969	N	0.996317	B	0.09022	0.002	B	0.04013	0.001	T	0.59931	-0.7361	8	0.87932	D	0	0.2167	7.347	0.26668	0.0:0.8784:0.0:0.1216	.	6	Q96MT1-2	.	K	6	ENSP00000274542:R6K	ENSP00000274542:R6K	R	-	2	0	RNF145	158567369	0.035000	0.19736	0.012000	0.15200	0.959000	0.62525	1.652000	0.37313	0.964000	0.38108	0.561000	0.74099	AGA	RNF145	-	NULL	ENSG00000145860		0.423	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF145	HGNC	protein_coding	OTTHUMT00000374048.1	-	0.00	81	0	C	NM_144726		158634791	-1	tier1	-	no_errors	ENST00000274542	ensembl	human	known	74_37	missense	49.12	29	28	SNP	0.193	T
RNF175	285533	genome.wustl.edu	37	4	154669910	154669910	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:154669910G>A	ENST00000347063.4	-	3	505	c.133C>T	c.(133-135)Cac>Tac	p.H45Y	RNF175_ENST00000506505.1_5'UTR|RNF175_ENST00000274068.4_5'UTR	NM_173662.2	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	45						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				TGGCCCCGGTGCATCTTGTAC	0.488																																																	0													61.0	65.0	64.0					4																	154669910		2044	4199	6243	SO:0001583	missense	0			BC034385	CCDS47149.1	4q31.3	2008-02-05			ENSG00000145428	ENSG00000145428		"""RING-type (C3HC4) zinc fingers"""	27735	protein-coding gene	gene with protein product							Standard	NM_173662		Approved	FLJ34190	uc003int.3	Q8N4F7	OTTHUMG00000161557	ENST00000347063.4:c.133C>T	4.37:g.154669910G>A	ENSP00000340979:p.His45Tyr		C9JL66|Q8NB61	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.H45Y	ENST00000347063.4	37	c.133	CCDS47149.1	4	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910506	0.72983	.	.	ENSG00000145428	ENST00000347063	T	0.47528	0.84	4.06	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.71324	0.3326	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.77395	-0.2604	10	0.87932	D	0	-19.1737	14.5512	0.68068	0.0:0.0:1.0:0.0	.	45	Q8N4F7	RN175_HUMAN	Y	45	ENSP00000340979:H45Y	ENSP00000340979:H45Y	H	-	1	0	RNF175	154889360	1.000000	0.71417	0.986000	0.45419	0.976000	0.68499	8.371000	0.90123	2.557000	0.86248	0.655000	0.94253	CAC	RNF175	-	NULL	ENSG00000145428		0.488	RNF175-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	RNF175	HGNC	protein_coding	OTTHUMT00000365286.1		0.00	49	0	G	NM_173662		154669910	-1			no_errors	ENST00000347063	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	A
RNF207	388591	genome.wustl.edu	37	1	6269994	6269994	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:6269994C>T	ENST00000377939.4	+	8	891	c.764C>T	c.(763-765)gCa>gTa	p.A255V	RNF207_ENST00000377948.2_Missense_Mutation_p.A28V	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	255						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GACAGGCTGGCAGAGAGGAAA	0.662																																																	0													51.0	55.0	54.0					1																	6269994		2203	4300	6503	SO:0001583	missense	0			AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"""RING-type (C3HC4) zinc fingers"""	32947	protein-coding gene	gene with protein product	"""OTTHUMG00000001089"""		"""chromosome 1 open reading frame 188"""	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.764C>T	1.37:g.6269994C>T	ENSP00000367173:p.Ala255Val		A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Missense_Mutation	SNP	NULL	p.A28V	ENST00000377939.4	37	c.83	CCDS59.2	1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699532	0.48307	.	.	ENSG00000158286	ENST00000377948;ENST00000377939	T	0.18960	2.18	4.52	4.52	0.55395	.	0.536654	0.14131	U	0.339388	T	0.24122	0.0584	L	0.53249	1.67	0.41615	D	0.988935	B	0.24426	0.103	B	0.21360	0.034	T	0.05616	-1.0874	10	0.28530	T	0.3	-9.6805	17.2241	0.86964	0.0:1.0:0.0:0.0	.	255	Q6ZRF8	RN207_HUMAN	V	28;255	ENSP00000367173:A255V	ENSP00000367173:A255V	A	+	2	0	RNF207	6192581	0.981000	0.34729	0.580000	0.28601	0.280000	0.26924	2.550000	0.45811	2.233000	0.73108	0.650000	0.86243	GCA	RNF207	-	NULL	ENSG00000158286		0.662	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RNF207	HGNC	protein_coding	OTTHUMT00000003669.2	-	0.00	44	0	C	NM_207396		6269994	+1	tier1	-	no_errors	ENST00000377948	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.995	T
ROBO2	6092	genome.wustl.edu	37	3	77595601	77595601	+	Silent	SNP	A	A	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:77595601A>G	ENST00000461745.1	+	7	1947	c.1047A>G	c.(1045-1047)aaA>aaG	p.K349K	ROBO2_ENST00000332191.8_Silent_p.K349K|ROBO2_ENST00000487694.3_Silent_p.K365K	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	349	Ig-like C2-type 4.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TTTGGCAGAAAGAAGGCAGCC	0.473																																																	0													184.0	181.0	182.0					3																	77595601		1896	4139	6035	SO:0001819	synonymous_variant	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1047A>G	3.37:g.77595601A>G			O43608|Q19AB4|Q19AB5	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.K349	ENST00000461745.1	37	c.1047	CCDS43109.1	3																																																																																			ROBO2	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000185008		0.473	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	-	0.00	64	0	A	XM_031246		77595601	+1	tier1	-	no_errors	ENST00000461745	ensembl	human	known	74_37	silent	17.02	39	8	SNP	1.000	G
ROBO2	6092	genome.wustl.edu	37	3	77613741	77613742	+	Intron	DEL	TA	TA	-	rs148921860		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	TA	TA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:77613741_77613742delTA	ENST00000461745.1	+	12	2582				ROBO2_ENST00000332191.8_Intron|ROBO2_ENST00000487694.3_Intron	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)						apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTTTTCAAGGTATATATATATA	0.322																																																	0																																										SO:0001627	intron_variant	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1683-363TA>-	3.37:g.77613751_77613752delTA			O43608|Q19AB4|Q19AB5	Splice_Site	DEL	-	e12+2	ENST00000461745.1	37	c.1695+2_3	CCDS43109.1	3																																																																																			ROBO2	-	-	ENSG00000185008		0.322	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2		0.00	16	0	TA	XM_031246		77613742	+1	tier1		no_errors	ENST00000473767	ensembl	human	known	74_37	splice_site_del	16.67	10	2	DEL	1.000:1.000	-
ROBO1	6091	genome.wustl.edu	37	3	78680429	78680429	+	Nonsense_Mutation	SNP	T	T	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:78680429T>A	ENST00000464233.1	-	25	3621	c.3508A>T	c.(3508-3510)Aga>Tga	p.R1170*	ROBO1_ENST00000467549.1_Nonsense_Mutation_p.R1070*|ROBO1_ENST00000495273.1_Nonsense_Mutation_p.R1125*|ROBO1_ENST00000436010.2_Nonsense_Mutation_p.R1131*	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1170					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)		TTGGGTGTTCTTGCCCCTTTC	0.463																																																	0													161.0	159.0	160.0					3																	78680429		2056	4190	6246	SO:0001587	stop_gained	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.3508A>T	3.37:g.78680429T>A	ENSP00000420321:p.Arg1170*		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Nonsense_Mutation	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_dom	p.R1170*	ENST00000464233.1	37	c.3508	CCDS54611.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	43|43	10.002625|10.002625	0.99314|0.99314	.|.	.|.	ENSG00000169855|ENSG00000169855	ENST00000472273|ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	.|.	.|.	.|.	5.37|5.37	1.18|1.18	0.20946|0.20946	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.65059|.	0.2655|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.69862|.	-0.5030|.	3|.	.|.	.|.	.|.	.|.	16.2368|16.2368	0.82380|0.82380	0.0:0.0:0.3839:0.6161|0.0:0.0:0.3839:0.6161	.|.	.|.	.|.	.|.	H|X	96|1131;1125;1170;1125;1070;1174	.|.	.|.	Q|R	-|-	3|1	2|2	ROBO1|ROBO1	78763119|78763119	1.000000|1.000000	0.71417|0.71417	0.772000|0.772000	0.31596|0.31596	0.928000|0.928000	0.56348|0.56348	1.832000|1.832000	0.39151|0.39151	-0.011000|-0.011000	0.14247|0.14247	-0.219000|-0.219000	0.12488|0.12488	CAA|AGA	ROBO1	-	NULL	ENSG00000169855		0.463	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	-	0.00	110	0	T	NM_002941		78680429	-1	tier1	-	no_errors	ENST00000464233	ensembl	human	known	74_37	nonsense	19.05	68	16	SNP	0.963	A
RPL32P3	132241	genome.wustl.edu	37	3	129112078	129112078	+	RNA	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:129112078G>T	ENST00000514355.1	-	0	735									ribosomal protein L32 pseudogene 3											lung(1)	1						TGTAACGCTGGCACAGGAAGT	0.527																																																	0																																												0			AK096589, AL117606		3q21.3	2014-03-20			ENSG00000251474	ENSG00000251474			27024	pseudogene	pseudogene						12477932	Standard	NR_003111		Approved		uc003ema.4		OTTHUMG00000159465		3.37:g.129112078G>T				RNA	SNP	-	NULL	ENST00000514355.1	37	NULL		3																																																																																			RPL32P3	-	-	ENSG00000251474		0.527	RPL32P3-003	KNOWN	basic	processed_transcript	RPL32P3	HGNC	pseudogene	OTTHUMT00000355880.1	-	0.00	76	0	G			129112078	-1	tier1	-	no_errors	ENST00000507238	ensembl	human	known	74_37	rna	5.56	67	4	SNP	0.992	T
RPL38	6169	genome.wustl.edu	37	17	72200319	72200319	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:72200319delG	ENST00000311111.6	+	3	185	c.54delG	c.(52-54)aagfs	p.K18fs	RPL38_ENST00000584577.1_Frame_Shift_Del_p.K18fs|RPL38_ENST00000439590.2_Frame_Shift_Del_p.K18fs|RPL38_ENST00000534490.1_Frame_Shift_Del_p.K18fs|RPL38_ENST00000533498.1_Frame_Shift_Del_p.K18fs			P63173	RL38_HUMAN	ribosomal protein L38	18					90S preribosome assembly (GO:0034463)|axial mesoderm development (GO:0048318)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|middle ear morphogenesis (GO:0042474)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ossification (GO:0001503)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|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)|eukaryotic 80S initiation complex (GO:0033291)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|pancreas(1)	2						CCCGACGAAAGGATGCCAAAT	0.562											OREG0024710	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													81.0	75.0	77.0					17																	72200319		2203	4300	6503	SO:0001589	frameshift_variant	0			AB007185	CCDS11696.1	17q25.1	2013-06-19			ENSG00000172809	ENSG00000172809		"""L ribosomal proteins"""	10349	protein-coding gene	gene with protein product		604182				9582194	Standard	NM_000999		Approved	L38	uc002jka.3	P63173	OTTHUMG00000166016	ENST00000311111.6:c.54delG	17.37:g.72200319delG	ENSP00000309830:p.Lys18fs	1135	B2R5A8|P23411	Frame_Shift_Del	DEL	pfam_Ribosomal_L38e	p.D19fs	ENST00000311111.6	37	c.54	CCDS11696.1	17																																																																																			RPL38	-	pfam_Ribosomal_L38e	ENSG00000172809		0.562	RPL38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPL38	HGNC	protein_coding	OTTHUMT00000387450.2		0.00	35	0	G	NM_000999		72200319	+1	tier1		no_errors	ENST00000311111	ensembl	human	known	74_37	frame_shift_del	5.41	35	2	DEL	1.000	-
RPL7A	6130	genome.wustl.edu	37	9	136218133	136218133	+	Missense_Mutation	SNP	G	G	A	rs199861563		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:136218133G>A	ENST00000323345.6	+	8	743	c.713G>A	c.(712-714)gGt>gAt	p.G238D	SNORD24_ENST00000383884.1_RNA|SNORD36A_ENST00000362874.1_RNA|SNORD36B_ENST00000363961.1_RNA|RPL7A_ENST00000315731.4_Missense_Mutation_p.G123D|SNORD36C_ENST00000516733.1_RNA|RPL7A_ENST00000463740.1_3'UTR|SURF1_ENST00000495952.1_5'Flank	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	238					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)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		CGTCACTGGGGTGGCAATGTC	0.448																																																	0													77.0	74.0	75.0					9																	136218133		2203	4300	6503	SO:0001583	missense	0			BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"""L ribosomal proteins"""	10364	protein-coding gene	gene with protein product	"""surfeit 3"", ""PLA-X polypeptide"", ""surfeit locus protein 3"", ""60S ribosomal protein L7a"", "";"", ""thyroid hormone receptor uncoupling protein"""	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.713G>A	9.37:g.136218133G>A	ENSP00000361076:p.Gly238Asp		P11518|Q5T8U4	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7A/L8,prints_Ribosomal_L7Ae/L8/Nhp2	p.G238D	ENST00000323345.6	37	c.713	CCDS6965.1	9	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	18.72	3.684851	0.68157	.	.	ENSG00000148303	ENST00000323345;ENST00000315731	T;T	0.74315	-0.51;-0.83	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.91287	0.7253	H	0.97564	4.03	0.80722	D	1	D	0.69078	0.997	D	0.73708	0.981	D	0.94302	0.7538	10	0.87932	D	0	.	17.9044	0.88914	0.0:0.0:1.0:0.0	.	238	P62424	RL7A_HUMAN	D	238;123	ENSP00000361076:G238D;ENSP00000361071:G123D	ENSP00000361071:G123D	G	+	2	0	RPL7A	135207954	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	9.081000	0.94049	2.481000	0.83766	0.561000	0.74099	GGT	RPL7A	-	prints_Ribosomal_L7A/L8	ENSG00000148303		0.448	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7A	HGNC	protein_coding	OTTHUMT00000054869.1		0.00	95	0	G	NM_000972		136218133	+1			no_errors	ENST00000323345	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	A
RPRD2	23248	genome.wustl.edu	37	1	150429812	150429812	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:150429812G>T	ENST00000369068.4	+	8	923	c.919G>T	c.(919-921)Gat>Tat	p.D307Y	RPRD2_ENST00000539519.1_Missense_Mutation_p.D281Y|RPRD2_ENST00000401000.4_Missense_Mutation_p.D281Y|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	307						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.D307H(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAAGAAGTTGGATCAATTGAA	0.423																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											101.0	97.0	98.0					1																	150429812		1872	4110	5982	SO:0001583	missense	0			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.919G>T	1.37:g.150429812G>T	ENSP00000358064:p.Asp307Tyr		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_CID_dom	p.D307Y	ENST00000369068.4	37	c.919	CCDS44216.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501985	0.85176	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.54675	0.6;0.56;0.6	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.68054	0.2959	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.69702	-0.5074	10	0.87932	D	0	-11.906	19.241	0.93883	0.0:0.0:1.0:0.0	.	281;307;281	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	Y	281;281;307	ENSP00000383785:D281Y;ENSP00000445482:D281Y;ENSP00000358064:D307Y	ENSP00000358064:D307Y	D	+	1	0	RPRD2	148696436	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.992000	0.93519	2.841000	0.97950	0.637000	0.83480	GAT	RPRD2	-	NULL	ENSG00000163125		0.423	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPRD2	HGNC	protein_coding	OTTHUMT00000035844.1		0.00	28	0	G	NM_015203		150429812	+1			no_errors	ENST00000369068	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T
RPS11	6205	genome.wustl.edu	37	19	50002780	50002781	+	Frame_Shift_Ins	INS	-	-	CG	rs145559297		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:50002780_50002781insCG	ENST00000270625.2	+	5	448_449	c.365_366insCG	c.(364-369)atcggtfs	p.G123fs	RPS11_ENST00000599561.1_Frame_Shift_Ins_p.R88fs|SNORD35B_ENST00000363660.1_RNA|MIR150_ENST00000385048.1_RNA|hsa-mir-150_ENST00000602157.1_5'Flank|RPS11_ENST00000594493.1_Frame_Shift_Ins_p.G44fs	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	123					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)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		GACGTCCAGATCGGTGACATCG	0.639																																																	0																																										SO:0001589	frameshift_variant	0			AB007152	CCDS12769.1	19q13.3	2011-08-03			ENSG00000142534	ENSG00000142534		"""S ribosomal proteins"""	10384	protein-coding gene	gene with protein product	"""40S ribosomal protein S11"""	180471				1577483, 9582194	Standard	NM_001015		Approved	S11	uc002pob.2	P62280		ENST00000270625.2:c.366_367dupCG	19.37:g.50002781_50002782dupCG	ENSP00000270625:p.Gly123fs		B2R4F5|P04643|Q498Y6|Q6IRY0	Frame_Shift_Ins	INS	pfam_Ribosomal_S17,superfamily_NA-bd_OB-fold,prints_Ribosomal_S17,tigrfam_Ribosomal_S17_arc-typ	p.G123fs	ENST00000270625.2	37	c.365_366	CCDS12769.1	19																																																																																			RPS11	-	pfam_Ribosomal_S17,superfamily_NA-bd_OB-fold,prints_Ribosomal_S17,tigrfam_Ribosomal_S17_arc-typ	ENSG00000142534		0.639	RPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS11	HGNC	protein_coding	OTTHUMT00000465288.1		0.00	45	0	-	NM_001015		50002781	+1	tier1		no_errors	ENST00000270625	ensembl	human	known	74_37	frame_shift_ins	26.47	25	9	INS	1.000:0.883	CG
RTL1	388015	genome.wustl.edu	37	14	101349575	101349575	+	Silent	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr14:101349575G>A	ENST00000534062.1	-	1	1609	c.1551C>T	c.(1549-1551)gaC>gaT	p.D517D	MIR432_ENST00000606207.1_RNA|MIR136_ENST00000385207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	517					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CTTTGATCCAGTCGACTTCGG	0.602																																																	0													36.0	40.0	39.0					14																	101349575		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.1551C>T	14.37:g.101349575G>A			E9PKS8	Silent	SNP	pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom	p.D517	ENST00000534062.1	37	c.1551	CCDS53910.1	14																																																																																			RTL1	-	superfamily_Peptidase_aspartic_dom	ENSG00000254656		0.602	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	-	0.00	51	0	G	NM_001134888		101349575	-1	tier1	-	no_errors	ENST00000534062	ensembl	human	known	74_37	silent	17.65	56	12	SNP	1.000	A
RUFY3	22902	genome.wustl.edu	37	4	71655255	71655255	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:71655255G>T	ENST00000226328.4	+	12	1846	c.1283G>T	c.(1282-1284)cGc>cTc	p.R428L	RUFY3_ENST00000536664.1_Missense_Mutation_p.R412L|RUFY3_ENST00000417478.2_Missense_Mutation_p.R488L|RUFY3_ENST00000502653.1_Missense_Mutation_p.R375L|RUFY3_ENST00000381006.3_Missense_Mutation_p.R428L	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	428					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			CTAAACAGTCGCTTGGAAGAG	0.343																																																	0													124.0	127.0	126.0					4																	71655255		2203	4300	6503	SO:0001583	missense	0			AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.1283G>T	4.37:g.71655255G>T	ENSP00000226328:p.Arg428Leu		B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run	p.R488L	ENST00000226328.4	37	c.1463	CCDS3547.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.110707	0.94292	.	.	ENSG00000018189	ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000502653	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.25938	0.0632	M	0.65975	2.015	0.80722	D	1	P;D;B;P	0.53151	0.802;0.958;0.451;0.668	P;P;B;B	0.47299	0.483;0.543;0.088;0.343	T	0.01767	-1.1278	10	0.72032	D	0.01	-4.0092	19.3098	0.94182	0.0:0.0:1.0:0.0	.	412;428;428;488	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	L	488;428;428;412;375	ENSP00000399771:R488L;ENSP00000370394:R428L;ENSP00000226328:R428L;ENSP00000443652:R412L;ENSP00000425400:R375L	ENSP00000226328:R428L	R	+	2	0	RUFY3	71874119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.118000	0.94355	2.565000	0.86533	0.655000	0.94253	CGC	RUFY3	-	NULL	ENSG00000018189		0.343	RUFY3-001	KNOWN	basic|CCDS	protein_coding	RUFY3	HGNC	protein_coding	OTTHUMT00000252161.2		0.00	76	0	G	NM_014961		71655255	+1			no_errors	ENST00000417478	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T
KIAA1731	85459	genome.wustl.edu	37	11	93454920	93454921	+	Intron	INS	-	-	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:93454920_93454921insG	ENST00000325212.6	+	20	6012				KIAA1731_ENST00000344196.4_Intron|KIAA1731_ENST00000411936.1_Intron|KIAA1731_ENST00000531700.1_Intron|SCARNA9_ENST00000362805.1_RNA|SCARNA9_ENST00000364329.1_RNA|SCARNA9_ENST00000530422.1_RNA|Y_RNA_ENST00000363005.1_RNA			Q9C0D2	K1731_HUMAN	KIAA1731							centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGATTGAGGGTGGGGGGGTGCG	0.416																																																	0																																										SO:0001627	intron_variant	0			AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.5851-199->G	11.37:g.93454927_93454927dupG			C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	RNA	INS	-	NULL	ENST00000325212.6	37	NULL	CCDS44708.1	11																																																																																			SCARNA9	-	-	ENSG00000254911		0.416	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCARNA9	HGNC	protein_coding	OTTHUMT00000394640.1		0.00	36	0	-	NM_033395		93454921	+1	tier1		no_errors	ENST00000530422	ensembl	human	known	74_37	rna	22.73	17	5	INS	0.007:0.011	G
SCN2A	6326	genome.wustl.edu	37	2	166198961	166198961	+	Silent	SNP	T	T	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:166198961T>G	ENST00000375437.2	+	15	2834	c.2544T>G	c.(2542-2544)gtT>gtG	p.V848V	SCN2A_ENST00000283256.6_Silent_p.V848V|SCN2A_ENST00000375427.2_Silent_p.V848V|SCN2A_ENST00000357398.3_Silent_p.V848V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	848					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GATTGTCAGTTCTCCGATCAT	0.338																																																	0													149.0	154.0	153.0					2																	166198961		2203	4300	6503	SO:0001819	synonymous_variant	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2544T>G	2.37:g.166198961T>G			A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.V848	ENST00000375437.2	37	c.2544	CCDS33314.1	2																																																																																			SCN2A	-	pfam_Ion_trans_dom	ENSG00000136531		0.338	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	-	0.00	81	0	T	NM_021007		166198961	+1	tier1	-	no_errors	ENST00000283256	ensembl	human	known	74_37	silent	22.81	44	13	SNP	0.998	G
SCN2A	6326	genome.wustl.edu	37	2	166231459	166231459	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:166231459C>A	ENST00000375437.2	+	22	4527	c.4237C>A	c.(4237-4239)Ctg>Atg	p.L1413M	SCN2A_ENST00000283256.6_Missense_Mutation_p.L1413M|SCN2A_ENST00000375427.2_Missense_Mutation_p.L1413M|SCN2A_ENST00000357398.3_Missense_Mutation_p.L1413M	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1413					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACTTGGATATCTGTCTCTACT	0.348																																																	0													46.0	45.0	45.0					2																	166231459		2203	4299	6502	SO:0001583	missense	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4237C>A	2.37:g.166231459C>A	ENSP00000364586:p.Leu1413Met		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.L1413M	ENST00000375437.2	37	c.4237	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428890	0.43122	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.97642	-4.47;-4.47;-4.47;-4.47	4.67	4.67	0.58626	Ion transport (1);	0.000000	0.64402	D	0.000004	D	0.98704	0.9565	M	0.90595	3.13	0.51233	D	0.999915	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99827	1.1051	10	0.87932	D	0	.	17.9467	0.89040	0.0:1.0:0.0:0.0	.	1413;1413	Q99250-2;Q99250	.;SCN2A_HUMAN	M	1413	ENSP00000364586:L1413M;ENSP00000349973:L1413M;ENSP00000283256:L1413M;ENSP00000364576:L1413M	ENSP00000283256:L1413M	L	+	1	2	SCN2A	165939705	1.000000	0.71417	1.000000	0.80357	0.167000	0.22549	7.776000	0.85560	2.291000	0.77112	0.655000	0.94253	CTG	SCN2A	-	pfam_Ion_trans_dom	ENSG00000136531		0.348	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	-	0.00	37	0	C	NM_021007		166231459	+1	tier1	-	no_errors	ENST00000283256	ensembl	human	known	74_37	missense	18.18	36	8	SNP	1.000	A
SDK1	221935	genome.wustl.edu	37	7	4153770	4153770	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:4153770C>T	ENST00000404826.2	+	25	3826	c.3687C>T	c.(3685-3687)gtC>gtT	p.V1229V	SDK1_ENST00000389531.3_Silent_p.V1229V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1229	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCAAGTCGTCAGTGACCGGC	0.607																																																	0													62.0	62.0	62.0					7																	4153770		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3687C>T	7.37:g.4153770C>T			Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V1229	ENST00000404826.2	37	c.3687	CCDS34590.1	7																																																																																			SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.607	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	-	0.00	53	0	C	NM_152744		4153770	+1	tier1	-	no_errors	ENST00000404826	ensembl	human	known	74_37	silent	11.39	70	9	SNP	0.002	T
SEC23IP	11196	genome.wustl.edu	37	10	121674307	121674307	+	Missense_Mutation	SNP	C	C	T	rs575485372	byFrequency	TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:121674307C>T	ENST00000369075.3	+	7	1450	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	SEC23IP_ENST00000543134.1_Missense_Mutation_p.R249C	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	460					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)		GTGTGACTTACGCTTTAGGAG	0.373													C|||	7	0.00139776	0.0	0.0	5008	,	,		21410	0.0		0.0	False		,,,				2504	0.0072																0													458.0	413.0	428.0					10																	121674307		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.1378C>T	10.37:g.121674307C>T	ENSP00000358071:p.Arg460Cys		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	pfam_DDHD,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD	p.R460C	ENST00000369075.3	37	c.1378	CCDS7618.1	10	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850105	0.71603	.	.	ENSG00000107651	ENST00000369075;ENST00000543134;ENST00000446561	T;T;T	0.52526	0.66;0.66;1.15	5.45	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	M	0.93978	3.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82174	-0.0588	10	0.87932	D	0	-13.5825	14.7854	0.69800	0.2153:0.7847:0.0:0.0	.	249;460	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	C	460;249;164	ENSP00000358071:R460C;ENSP00000438773:R249C;ENSP00000396906:R164C	ENSP00000358071:R460C	R	+	1	0	SEC23IP	121664297	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.177000	0.31969	2.712000	0.92718	0.591000	0.81541	CGC	SEC23IP	-	NULL	ENSG00000107651		0.373	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC23IP	HGNC	protein_coding	OTTHUMT00000050688.1	-	0.00	88	0	C			121674307	+1	tier1	-	no_errors	ENST00000369075	ensembl	human	known	74_37	missense	38.33	37	23	SNP	1.000	T
SEMA4A	64218	genome.wustl.edu	37	1	156130754	156130754	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:156130754G>T	ENST00000368285.3	+	8	1011	c.744G>T	c.(742-744)gaG>gaT	p.E248D	SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Missense_Mutation_p.E116D|SEMA4A_ENST00000368284.1_Missense_Mutation_p.E116D|SEMA4A_ENST00000355014.2_Missense_Mutation_p.E248D|SEMA4A_ENST00000368282.1_Missense_Mutation_p.E248D	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	248	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TCTTCTTCGAGGAGACAGCCA	0.637																																																	0													112.0	121.0	118.0					1																	156130754		2203	4300	6503	SO:0001583	missense	0			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.744G>T	1.37:g.156130754G>T	ENSP00000357268:p.Glu248Asp		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.E248D	ENST00000368285.3	37	c.744	CCDS1132.1	1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036069	0.54896	.	.	ENSG00000196189	ENST00000435124;ENST00000414683;ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000438830;ENST00000368282	T;T;T;T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81;2.81;2.81;2.81	5.65	4.74	0.60224	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.856952	0.10392	N	0.680243	T	0.03827	0.0108	L	0.38838	1.175	0.35066	D	0.762032	B;B	0.16166	0.016;0.009	B;B	0.18263	0.021;0.021	T	0.22277	-1.0221	10	0.36615	T	0.2	.	8.9756	0.35932	0.0791:0.1487:0.7722:0.0	.	116;248	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	D	248;149;248;248;116;210;210;116;215;248	ENSP00000401391:E248D;ENSP00000399230:E149D;ENSP00000347117:E248D;ENSP00000357268:E248D;ENSP00000357267:E116D;ENSP00000357269:E116D;ENSP00000392865:E215D;ENSP00000357265:E248D	ENSP00000347117:E248D	E	+	3	2	SEMA4A	154397378	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.718000	0.38001	1.392000	0.46585	0.455000	0.32223	GAG	SEMA4A	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000196189		0.637	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4A	HGNC	protein_coding	OTTHUMT00000039484.2	-	0.00	34	0	G	NM_022367		156130754	+1	tier1	-	no_errors	ENST00000355014	ensembl	human	known	74_37	missense	23.21	43	13	SNP	1.000	T
SEMA4D	10507	genome.wustl.edu	37	9	91994331	91994331	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:91994331G>A	ENST00000450295.1	-	16	2653	c.1877C>T	c.(1876-1878)tCa>tTa	p.S626L	SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000356444.2_Missense_Mutation_p.S626L|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000438547.2_Missense_Mutation_p.S626L|SEMA4D_ENST00000422704.2_Missense_Mutation_p.S626L			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	626	Ig-like C2-type.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CCTCTCCTCTGACAGGCACTG	0.532																																																	0													230.0	233.0	232.0					9																	91994331		2203	4300	6503	SO:0001583	missense	0			U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.1877C>T	9.37:g.91994331G>A	ENSP00000416523:p.Ser626Leu		B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom	p.S626L	ENST00000450295.1	37	c.1877	CCDS6685.1	9	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365039	0.82463	.	.	ENSG00000187764	ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	4.9	3.99	0.46301	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.268582	0.38058	N	0.001830	T	0.26774	0.0655	M	0.77103	2.36	0.47621	D	0.999474	P	0.35844	0.524	P	0.54060	0.741	T	0.01829	-1.1265	10	0.66056	D	0.02	.	13.5785	0.61888	0.0755:0.0:0.9245:0.0	.	626	Q92854	SEM4D_HUMAN	L	626	ENSP00000416523:S626L;ENSP00000405102:S626L;ENSP00000348822:S626L;ENSP00000388768:S626L	ENSP00000348822:S626L	S	-	2	0	SEMA4D	91184151	1.000000	0.71417	0.755000	0.31263	0.892000	0.51952	4.638000	0.61353	1.271000	0.44313	0.561000	0.74099	TCA	SEMA4D	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000187764		0.532	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA4D	HGNC	protein_coding	OTTHUMT00000342411.1	-	0.00	53	0	G	NM_006378		91994331	-1	tier1	-	no_errors	ENST00000356444	ensembl	human	known	74_37	missense	36.36	21	12	SNP	0.985	A
SEMA6D	80031	genome.wustl.edu	37	15	48054432	48054432	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:48054432T>G	ENST00000316364.5	+	8	1013	c.574T>G	c.(574-576)Ttg>Gtg	p.L192V	SEMA6D_ENST00000389428.3_Missense_Mutation_p.L192V|SEMA6D_ENST00000354744.4_Missense_Mutation_p.L192V|SEMA6D_ENST00000536845.2_Missense_Mutation_p.L192V|SEMA6D_ENST00000389432.2_Missense_Mutation_p.L192V|SEMA6D_ENST00000358066.4_Missense_Mutation_p.L192V|SEMA6D_ENST00000389433.2_Missense_Mutation_p.L192V|SEMA6D_ENST00000537942.1_Missense_Mutation_p.L192V|SEMA6D_ENST00000558816.1_Missense_Mutation_p.L192V|SEMA6D_ENST00000558014.1_Missense_Mutation_p.L192V|SEMA6D_ENST00000355997.3_Missense_Mutation_p.L192V|SEMA6D_ENST00000389425.3_Missense_Mutation_p.L192V	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	192	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GGCTGACTTCTTGGCCAGCGA	0.418																																																	0													116.0	106.0	109.0					15																	48054432		2198	4297	6495	SO:0001583	missense	0			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.574T>G	15.37:g.48054432T>G	ENSP00000324857:p.Leu192Val		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.L192V	ENST00000316364.5	37	c.574	CCDS32225.1	15	.	.	.	.	.	.	.	.	.	.	T	18.39	3.613170	0.66672	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79	6.17	-3.38	0.04883	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.125929	0.53938	D	0.000048	T	0.27134	0.0665	M	0.78801	2.425	0.43512	D	0.995775	P;B;B;P;P	0.38335	0.501;0.121;0.21;0.627;0.501	B;B;B;P;B	0.54706	0.251;0.11;0.185;0.759;0.251	T	0.25882	-1.0119	10	0.62326	D	0.03	.	16.2204	0.82255	0.0:0.7816:0.0:0.2184	.	192;192;192;192;192	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	V	192	ENSP00000442040:L192V;ENSP00000446152:L192V;ENSP00000324857:L192V;ENSP00000374084:L192V;ENSP00000374083:L192V;ENSP00000346786:L192V;ENSP00000350770:L192V;ENSP00000374079:L192V;ENSP00000348276:L192V;ENSP00000374076:L192V	ENSP00000324857:L192V	L	+	1	2	SEMA6D	45841724	0.990000	0.36364	0.979000	0.43373	0.998000	0.95712	0.303000	0.19210	-0.513000	0.06496	0.533000	0.62120	TTG	SEMA6D	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000137872		0.418	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	HGNC	protein_coding	OTTHUMT00000416868.1	-	0.00	44	0	T	NM_024966		48054432	+1	tier1	-	no_errors	ENST00000316364	ensembl	human	known	74_37	missense	65.79	13	25	SNP	1.000	G
SETD5	55209	genome.wustl.edu	37	3	9438264	9438264	+	5'Flank	SNP	C	C	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:9438264C>G	ENST00000406341.1	+	0	0				SETD5-AS1_ENST00000518437.1_RNA|SETD5-AS1_ENST00000520396.1_RNA|SETD5_ENST00000402198.1_5'Flank|SETD5-AS1_ENST00000498199.1_RNA|SETD5-AS1_ENST00000521609.1_RNA|SETD5_ENST00000402466.1_5'Flank|SETD5-AS1_ENST00000383834.2_RNA|SETD5-AS1_ENST00000520447.1_RNA|SETD5-AS1_ENST00000480904.2_RNA|SETD5-AS1_ENST00000520629.1_RNA|SETD5-AS1_ENST00000469846.2_RNA|SETD5-AS1_ENST00000524210.1_RNA|SETD5-AS1_ENST00000468186.1_RNA|SETD5-AS1_ENST00000521267.1_RNA|SETD5-AS1_ENST00000489616.1_RNA|SETD5-AS1_ENST00000521708.1_RNA|SETD5-AS1_ENST00000494680.2_RNA|SETD5-AS1_ENST00000481221.2_RNA|SETD5-AS1_ENST00000519043.1_RNA|SETD5-AS1_ENST00000522525.1_RNA|SETD5-AS1_ENST00000467069.2_RNA			Q9C0A6	SETD5_HUMAN	SET domain containing 5											NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TCGGGCTTGTCTCGCCCTTCA	0.731																																																	0																																										SO:0001631	upstream_gene_variant	0			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491		3.37:g.9438264C>G	Exception_encountered		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	RNA	SNP	-	NULL	ENST00000406341.1	37	NULL	CCDS46741.1	3																																																																																			SETD5-AS1	-	-	ENSG00000206573		0.731	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	SETD5-AS1	HGNC	protein_coding	OTTHUMT00000318425.1	-	0.00	58	0	C	XM_371614		9438264	-1	tier1	-	no_errors	ENST00000383834	ensembl	human	known	74_37	rna	22.00	38	11	SNP	0.000	G
SFPQ	6421	genome.wustl.edu	37	1	35657099	35657099	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:35657099C>T	ENST00000357214.5	-	2	958	c.860G>A	c.(859-861)aGg>aAg	p.R287K		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	287					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CTCTCCAGGCCTCCTCAAGAG	0.398			T	TFE3	papillary renal cell																																			Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	0													75.0	76.0	76.0					1																	35657099		2203	4300	6503	SO:0001583	missense	0			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.860G>A	1.37:g.35657099C>T	ENSP00000349748:p.Arg287Lys		P30808|Q5SZ71	Missense_Mutation	SNP	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.R287K	ENST00000357214.5	37	c.860	CCDS388.1	1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.481763	0.26598	.	.	ENSG00000116560	ENST00000357214	T	0.20738	2.05	5.26	4.35	0.52113	.	0.045912	0.85682	D	0.000000	T	0.12050	0.0293	N	0.16368	0.405	0.41648	D	0.989111	B	0.24963	0.115	B	0.15870	0.014	T	0.07908	-1.0748	10	0.10902	T	0.67	-16.868	14.0412	0.64676	0.0:0.927:0.0:0.073	.	287	P23246	SFPQ_HUMAN	K	287	ENSP00000349748:R287K	ENSP00000349748:R287K	R	-	2	0	SFPQ	35429686	0.991000	0.36638	0.998000	0.56505	0.998000	0.95712	2.701000	0.47094	1.201000	0.43203	0.563000	0.77884	AGG	SFPQ	-	NULL	ENSG00000116560		0.398	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFPQ	HGNC	protein_coding	OTTHUMT00000011984.4	-	0.00	50	0	C	NM_005066		35657099	-1	tier1	-	no_errors	ENST00000357214	ensembl	human	known	74_37	missense	19.61	40	10	SNP	1.000	T
SGTB	54557	genome.wustl.edu	37	5	64981212	64981212	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:64981212C>T	ENST00000381007.4	-	6	697	c.462G>A	c.(460-462)aaG>aaA	p.K154K		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	154										large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		TCCCATAGGCCTTGCTGTACT	0.423																																																	0													252.0	216.0	228.0					5																	64981212		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"""Tetratricopeptide (TTC) repeat domain containing"""	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.462G>A	5.37:g.64981212C>T				Silent	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K154	ENST00000381007.4	37	c.462	CCDS3988.1	5																																																																																			SGTB	-	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000197860		0.423	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGTB	HGNC	protein_coding	OTTHUMT00000215057.2	-	0.00	65	0	C	NM_019072		64981212	-1	tier1	-	no_errors	ENST00000381007	ensembl	human	known	74_37	silent	36.21	37	21	SNP	1.000	T
SH3GL3	6457	genome.wustl.edu	37	15	84245418	84245418	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:84245418C>T	ENST00000427482.2	+	6	855	c.549C>T	c.(547-549)gtC>gtT	p.V183V	SH3GL3_ENST00000535412.1_Silent_p.V183V|SH3GL3_ENST00000434347.1_Silent_p.V191V|SH3GL3_ENST00000324537.5_Silent_p.V191V	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	183	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						ACGAAGAAGTCAGACAAGCGG	0.373																																																	0													58.0	61.0	60.0					15																	84245418		2203	4300	6503	SO:0001819	synonymous_variant	0			AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.549C>T	15.37:g.84245418C>T			O43553|O43554	Silent	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain	p.V191	ENST00000427482.2	37	c.573	CCDS10325.2	15																																																																																			SH3GL3	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom	ENSG00000140600		0.373	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL3	HGNC	protein_coding	OTTHUMT00000347797.1	-	0.00	57	0	C	NM_003027		84245418	+1	tier1	-	no_errors	ENST00000324537	ensembl	human	known	74_37	silent	42.37	33	25	SNP	1.000	T
SIPA1L1	26037	genome.wustl.edu	37	14	72055443	72055443	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr14:72055443G>C	ENST00000555818.1	+	2	1202	c.854G>C	c.(853-855)cGt>cCt	p.R285P	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R285P|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R285P	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	285					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTCAAGCGACGTTCAAAATCT	0.428																																																	0													68.0	73.0	71.0					14																	72055443		2203	4300	6503	SO:0001583	missense	0			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.854G>C	14.37:g.72055443G>C	ENSP00000450832:p.Arg285Pro		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.R285P	ENST00000555818.1	37	c.854	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993743	0.54041	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.46451	0.87;0.87;0.87	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.61602	0.2360	L	0.47190	1.495	0.80722	D	1	D;D;D	0.89917	0.987;1.0;0.998	P;D;D	0.81914	0.82;0.995;0.992	T	0.59225	-0.7494	10	0.66056	D	0.02	-16.7012	20.6593	0.99626	0.0:0.0:1.0:0.0	.	285;285;285	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	P	285	ENSP00000370630:R285P;ENSP00000450832:R285P;ENSP00000351352:R285P	ENSP00000351352:R285P	R	+	2	0	SIPA1L1	71125196	1.000000	0.71417	0.353000	0.25747	0.298000	0.27526	9.624000	0.98398	2.885000	0.99019	0.655000	0.94253	CGT	SIPA1L1	-	NULL	ENSG00000197555		0.428	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	-	0.00	27	0	G	NM_015556		72055443	+1	tier1	-	no_errors	ENST00000555818	ensembl	human	known	74_37	missense	18.18	26	6	SNP	1.000	C
SLC10A5	347051	genome.wustl.edu	37	8	82606447	82606447	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:82606447G>T	ENST00000518568.1	-	1	1962	c.761C>A	c.(760-762)tCt>tAt	p.S254Y		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	254						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)	p.S254Y(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						GTATATATAAGAATTGACAGG	0.373																																																	1	Substitution - Missense(1)	large_intestine(1)											73.0	76.0	75.0					8																	82606447		2203	4300	6503	SO:0001583	missense	0				CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.761C>A	8.37:g.82606447G>T	ENSP00000428612:p.Ser254Tyr		B2RN26	Missense_Mutation	SNP	pfam_BilAc/Na_symport	p.S254Y	ENST00000518568.1	37	c.761	CCDS34915.1	8	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190542	0.58017	.	.	ENSG00000253598	ENST00000518568	T	0.12147	2.71	6.01	5.12	0.69794	.	0.123130	0.37261	N	0.002173	T	0.36908	0.0984	M	0.70275	2.135	0.41973	D	0.990769	D	0.89917	1.0	D	0.76071	0.987	T	0.17961	-1.0352	10	0.56958	D	0.05	-12.2582	15.0279	0.71682	0.0:0.143:0.857:0.0	.	254	Q5PT55	NTCP5_HUMAN	Y	254	ENSP00000428612:S254Y	ENSP00000428612:S254Y	S	-	2	0	SLC10A5	82769002	1.000000	0.71417	0.938000	0.37757	0.441000	0.31987	3.847000	0.55895	1.530000	0.49136	0.585000	0.79938	TCT	SLC10A5	-	pfam_BilAc/Na_symport	ENSG00000253598		0.373	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A5	HGNC	protein_coding	OTTHUMT00000379736.1		0.00	25	0	G	XM_294493		82606447	-1			no_errors	ENST00000518568	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.999	T
SLC24A2	25769	genome.wustl.edu	37	9	19516401	19516401	+	Splice_Site	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:19516401C>T	ENST00000341998.2	-	10	1798		c.e10-1		SLC24A2_ENST00000286344.3_Splice_Site	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2						cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CAGTGGGAGCCTGTGCAGAAG	0.517																																																	0													37.0	39.0	38.0					9																	19516401		2203	4300	6503	SO:0001630	splice_region_variant	0			AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1737-1G>A	9.37:g.19516401C>T			B7ZLL8|Q9NTN5|Q9NZQ4	Splice_Site	SNP	-	e10-1	ENST00000341998.2	37	c.1737-1	CCDS6493.1	9	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165581	0.78339	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4603	0.90736	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC24A2	19506401	1.000000	0.71417	0.997000	0.53966	0.865000	0.49528	7.771000	0.85420	2.351000	0.79841	0.655000	0.94253	.	SLC24A2	-	-	ENSG00000155886		0.517	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A2	HGNC	protein_coding	OTTHUMT00000051866.2	-	0.00	39	0	C	NM_020344	Intron	19516401	-1	tier1	-	no_errors	ENST00000341998	ensembl	human	known	74_37	splice_site	40.00	6	4	SNP	1.000	T
SLC26A7	115111	genome.wustl.edu	37	8	92378943	92378943	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:92378943A>G	ENST00000276609.3	+	14	1863	c.1624A>G	c.(1624-1626)Aag>Gag	p.K542E	SLC26A7_ENST00000309536.2_Missense_Mutation_p.K542E|SLC26A7_ENST00000523719.1_Missense_Mutation_p.K542E|SLC26A7_ENST00000520249.1_3'UTR	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TGATATCAGCAAGGTAGGATC	0.323																																																	0													95.0	99.0	98.0					8																	92378943		2203	4300	6503	SO:0001583	missense	0			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1624A>G	8.37:g.92378943A>G	ENSP00000276609:p.Lys542Glu			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.K542E	ENST00000276609.3	37	c.1624	CCDS6254.1	8	.	.	.	.	.	.	.	.	.	.	A	19.91	3.914291	0.72983	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	D;D;D	0.93019	-3.15;-3.15;-3.15	5.33	5.33	0.75918	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.211991	0.34700	N	0.003744	D	0.95711	0.8605	M	0.70595	2.14	0.27784	N	0.943047	D;D	0.76494	0.998;0.999	D;D	0.83275	0.994;0.996	D	0.91115	0.4925	10	0.30854	T	0.27	.	12.8205	0.57690	1.0:0.0:0.0:0.0	.	542;542	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	E	542	ENSP00000428849:K542E;ENSP00000276609:K542E;ENSP00000309504:K542E	ENSP00000276609:K542E	K	+	1	0	SLC26A7	92448119	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.217000	0.65252	2.025000	0.59659	0.533000	0.62120	AAG	SLC26A7	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	ENSG00000147606		0.323	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC26A7	HGNC	protein_coding	OTTHUMT00000377011.1	-	0.00	33	0	A			92378943	+1	tier1	-	no_errors	ENST00000309536	ensembl	human	known	74_37	missense	31.43	24	11	SNP	1.000	G
SLC26A8	116369	genome.wustl.edu	37	6	35911951	35911951	+	Missense_Mutation	SNP	C	C	T	rs138910476		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:35911951C>T	ENST00000490799.1	-	20	2992	c.2639G>A	c.(2638-2640)cGg>cAg	p.R880Q	SLC26A8_ENST00000355574.2_Missense_Mutation_p.R880Q|SLC26A8_ENST00000394602.2_Missense_Mutation_p.R775Q	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8									p.R880L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTCCAGCTCCCGATCCAGGTC	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14505	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	lung(1)						C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	112.0	110.0	110.0		2639,2639,2324	-11.7	0.0	6	dbSNP_134	110	4,8596	3.7+/-12.6	0,4,4296	no	missense,missense,missense	SLC26A8	NM_001193476.1,NM_052961.3,NM_138718.2	43,43,43	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign,benign,benign	880/971,880/971,775/866	35911951	4,13002	2203	4300	6503	SO:0001583	missense	0			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2639G>A	6.37:g.35911951C>T	ENSP00000417638:p.Arg880Gln			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.R880Q	ENST00000490799.1	37	c.2639	CCDS4813.1	6	.	.	.	.	.	.	.	.	.	.	C	8.225	0.803403	0.16397	0.0	4.65E-4	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	T;T;T	0.44482	0.92;0.92;0.92	5.87	-11.7	0.00046	.	4.195330	0.00589	N	0.000351	T	0.04770	0.0129	N	0.12182	0.205	0.09310	N	1	B;B;B	0.13594	0.005;0.008;0.003	B;B;B	0.04013	0.0;0.001;0.001	T	0.16600	-1.0397	10	0.22706	T	0.39	.	6.9411	0.24492	0.3268:0.4603:0.1434:0.0694	.	880;775;462	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	Q	880;775;880	ENSP00000417638:R880Q;ENSP00000378100:R775Q;ENSP00000347778:R880Q	ENSP00000347778:R880Q	R	-	2	0	SLC26A8	36019929	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-4.101000	0.00295	-5.796000	0.00009	-2.629000	0.00154	CGG	SLC26A8	-	NULL	ENSG00000112053		0.572	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A8	HGNC	protein_coding	OTTHUMT00000040325.2	-	0.00	46	0	C			35911951	-1	tier1	rs138910476	no_errors	ENST00000355574	ensembl	human	known	74_37	missense	60.87	18	28	SNP	0.000	T
SLC36A3	285641	genome.wustl.edu	37	5	150672926	150672926	+	Splice_Site	DEL	T	T	-			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:150672926delT	ENST00000335230.3	-	4	814	c.403delA	c.(403-405)agg>gg	p.R135fs	SLC36A3_ENST00000377713.3_Splice_Site_p.R135fs	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	135						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACTACTACCTTCCCCACACT	0.428																																																	0													94.0	78.0	83.0					5																	150672926		2203	4300	6503	SO:0001630	splice_region_variant	0			AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.404+1A>-	5.37:g.150672926delT			Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Frame_Shift_Del	DEL	pfam_AA_transpt_TM	p.R135fs	ENST00000335230.3	37	c.403	CCDS4314.1	5																																																																																			SLC36A3	-	pfam_AA_transpt_TM	ENSG00000186334		0.428	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A3	HGNC	protein_coding	OTTHUMT00000252436.1		0.00	26	0	T	NM_181774	Frame_Shift_Del	150672926	-1	tier1		no_errors	ENST00000377713	ensembl	human	known	74_37	frame_shift_del	5.26	36	2	DEL	1.000	-
SLC4A2	6522	genome.wustl.edu	37	7	150767428	150767428	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:150767428C>T	ENST00000485713.1	+	10	2484	c.1444C>T	c.(1444-1446)Cga>Tga	p.R482*	SLC4A2_ENST00000461735.1_Nonsense_Mutation_p.R468*|SLC4A2_ENST00000413384.2_Nonsense_Mutation_p.R482*|SLC4A2_ENST00000310317.5_Nonsense_Mutation_p.R400*|SLC4A2_ENST00000392826.2_Nonsense_Mutation_p.R473*	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	482					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)	p.R482*(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAGGTGGAGCGAGAGGTGAG	0.682																																																	1	Substitution - Nonsense(1)	endometrium(1)											32.0	36.0	35.0					7																	150767428		2203	4300	6503	SO:0001587	stop_gained	0				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.1444C>T	7.37:g.150767428C>T	ENSP00000419412:p.Arg482*		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Nonsense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk	p.R482*	ENST00000485713.1	37	c.1444	CCDS5917.1	7	.	.	.	.	.	.	.	.	.	.	c	48	14.101286	0.99779	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	.	.	.	5.07	2.86	0.33363	.	0.000000	0.30989	N	0.008468	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	11.4337	0.50056	0.3965:0.6035:0.0:0.0	.	.	.	.	X	482;482;400;473;468	.	ENSP00000311402:R400X	R	+	1	2	SLC4A2	150398361	0.711000	0.27906	0.946000	0.38457	0.969000	0.65631	0.077000	0.14738	1.213000	0.43380	0.550000	0.68814	CGA	SLC4A2	-	pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk	ENSG00000164889		0.682	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC4A2	HGNC	protein_coding	OTTHUMT00000351039.1		0.00	70	0	C	NM_003040		150767428	+1			no_errors	ENST00000413384	ensembl	human	known	74_37	nonsense	6.67	42	3	SNP	0.752	T
SLC6A3	6531	genome.wustl.edu	37	5	1403039	1403039	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:1403039C>A	ENST00000270349.9	-	13	1892	c.1765G>T	c.(1765-1767)Gag>Tag	p.E589*	SLC6A3_ENST00000453492.2_Nonsense_Mutation_p.E589*	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	589	Interaction with TGFB1I1.				adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ATACCCACCTCTCGAAAGGAC	0.637																																																	0													53.0	49.0	50.0					5																	1403039		2203	4300	6503	SO:0001587	stop_gained	0				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1765G>T	5.37:g.1403039C>A	ENSP00000270349:p.Glu589*		A2RUN4|Q14996	Nonsense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine	p.E589*	ENST00000270349.9	37	c.1765	CCDS3863.1	5	.	.	.	.	.	.	.	.	.	.	c	37	6.597993	0.97692	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	.	.	.	4.18	3.3	0.37823	.	0.308515	0.27420	U	0.019458	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	10.2028	0.43094	0.0:0.8952:0.0:0.1048	.	.	.	.	X	589	.	ENSP00000270349:E589X	E	-	1	0	SLC6A3	1456039	1.000000	0.71417	0.985000	0.45067	0.841000	0.47740	2.529000	0.45632	1.905000	0.55150	0.298000	0.19748	GAG	SLC6A3	-	NULL	ENSG00000142319		0.637	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A3	HGNC	protein_coding	OTTHUMT00000253650.3	-	0.00	50	0	C	NM_001044		1403039	-1	tier1	-	no_errors	ENST00000270349	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	1.000	A
SLC8A1	6546	genome.wustl.edu	37	2	40656990	40656990	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:40656990G>T	ENST00000403092.1	-	2	464	c.431C>A	c.(430-432)tCt>tAt	p.S144Y	SLC8A1_ENST00000408028.2_Missense_Mutation_p.S144Y|SLC8A1_ENST00000542756.1_Missense_Mutation_p.S144Y|SLC8A1_ENST00000405901.3_Missense_Mutation_p.S144Y|SLC8A1_ENST00000332839.4_Missense_Mutation_p.S144Y|SLC8A1_ENST00000402441.1_Missense_Mutation_p.S144Y|SLC8A1_ENST00000542024.1_Missense_Mutation_p.S144Y|SLC8A1_ENST00000406391.2_Missense_Mutation_p.S144Y|SLC8A1_ENST00000405269.1_Missense_Mutation_p.S144Y|SLC8A1_ENST00000406785.2_Missense_Mutation_p.S144Y			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	144					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)	AGGAGCAGAAGATCCCAGGGC	0.468																																																	0													141.0	130.0	133.0					2																	40656990		2203	4300	6503	SO:0001583	missense	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.431C>A	2.37:g.40656990G>T	ENSP00000384763:p.Ser144Tyr		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_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	p.S144Y	ENST00000403092.1	37	c.431	CCDS1806.1	2	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134667	0.56828	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.59	4.72	0.59763	Sodium/calcium exchanger membrane region (1);	0.053398	0.85682	D	0.000000	D	0.84070	0.5391	H	0.95745	3.715	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.997;1.0;1.0;1.0	D	0.87974	0.2738	10	0.87932	D	0	.	12.2609	0.54649	0.0821:0.0:0.9179:0.0	.	144;144;144;144;144	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	Y	144	ENSP00000383886:S144Y;ENSP00000440727:S144Y;ENSP00000384763:S144Y;ENSP00000385678:S144Y;ENSP00000385188:S144Y;ENSP00000385535:S144Y;ENSP00000332931:S144Y;ENSP00000384908:S144Y;ENSP00000385811:S144Y;ENSP00000443515:S144Y	ENSP00000332931:S144Y	S	-	2	0	SLC8A1	40510494	1.000000	0.71417	0.979000	0.43373	0.995000	0.86356	9.669000	0.98622	1.384000	0.46424	0.563000	0.77884	TCT	SLC8A1	-	pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex	ENSG00000183023		0.468	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	HGNC	protein_coding	OTTHUMT00000326065.1	-	0.00	25	0	G	NM_021097		40656990	-1	tier1	-	no_errors	ENST00000332839	ensembl	human	known	74_37	missense	21.74	18	5	SNP	1.000	T
SLIT3	6586	genome.wustl.edu	37	5	168201289	168201289	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:168201289G>T	ENST00000519560.1	-	13	1665	c.1246C>A	c.(1246-1248)Cag>Aag	p.Q416K	SLIT3_ENST00000404867.3_Missense_Mutation_p.Q416K|SLIT3_ENST00000332966.8_Missense_Mutation_p.Q416K	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	416					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGATGGTCTGCAGCTTGTTG	0.577																																					Ovarian(29;311 847 10864 17279 24903)												0													224.0	212.0	216.0					5																	168201289		2203	4300	6503	SO:0001583	missense	0			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1246C>A	5.37:g.168201289G>T	ENSP00000430333:p.Gln416Lys		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.Q416K	ENST00000519560.1	37	c.1246	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.122387	0.94429	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.23552	1.9;1.9;1.9	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.37812	0.1017	N	0.16790	0.44	0.80722	D	1	D;D;D	0.65815	0.99;0.987;0.995	D;P;D	0.91635	0.973;0.886;0.999	T	0.24835	-1.0149	10	0.42905	T	0.14	.	19.4314	0.94768	0.0:0.0:1.0:0.0	.	416;416;416	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	K	416	ENSP00000430333:Q416K;ENSP00000332164:Q416K;ENSP00000384890:Q416K	ENSP00000332164:Q416K	Q	-	1	0	SLIT3	168133867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.588000	0.87417	0.650000	0.86243	CAG	SLIT3	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000184347		0.577	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4		0.00	60	0	G	NM_003062		168201289	-1			no_errors	ENST00000519560	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T
SLITRK3	22865	genome.wustl.edu	37	3	164905923	164905923	+	Missense_Mutation	SNP	A	A	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:164905923A>T	ENST00000475390.1	-	2	3139	c.2696T>A	c.(2695-2697)tTt>tAt	p.F899Y	SLITRK3_ENST00000241274.3_Missense_Mutation_p.F899Y			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	899					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ACAGTCCACAAATCCCACTGT	0.552										HNSCC(40;0.11)																																							0													68.0	67.0	67.0					3																	164905923		2203	4300	6503	SO:0001583	missense	0			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2696T>A	3.37:g.164905923A>T	ENSP00000420091:p.Phe899Tyr		Q1RMY6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.F899Y	ENST00000475390.1	37	c.2696	CCDS3197.1	3	.	.	.	.	.	.	.	.	.	.	A	16.08	3.020184	0.54576	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.56776	0.44;0.44	5.75	5.75	0.90469	.	0.000000	0.35436	N	0.003202	T	0.41880	0.1178	N	0.24115	0.695	0.48040	D	0.999572	B	0.26445	0.149	B	0.25884	0.064	T	0.31998	-0.9923	10	0.51188	T	0.08	-14.7009	15.7357	0.77842	1.0:0.0:0.0:0.0	.	899	O94933	SLIK3_HUMAN	Y	899	ENSP00000420091:F899Y;ENSP00000241274:F899Y	ENSP00000241274:F899Y	F	-	2	0	SLITRK3	166388617	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.530000	0.67141	2.195000	0.70347	0.533000	0.62120	TTT	SLITRK3	-	NULL	ENSG00000121871		0.552	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	-	0.00	56	0	A	NM_014926		164905923	-1	tier1	-	no_errors	ENST00000241274	ensembl	human	known	74_37	missense	18.42	31	7	SNP	1.000	T
HTR2C	3358	genome.wustl.edu	37	X	113865309	113865309	+	Intron	SNP	A	A	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:113865309A>G	ENST00000276198.1	+	2	649				HTR2C_ENST00000371950.3_Intron|SNORA35_ENST00000386104.1_RNA|HTR2C_ENST00000371951.1_Intron	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled						behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTGGGCATCAAGCGGTGCAAA	0.552																																																	0													49.0	45.0	46.0					X																	113865309		876	1991	2867	SO:0001627	intron_variant	0				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.-80+16970A>G	X.37:g.113865309A>G			B1AMW4|Q5VUF8|Q9NP28	RNA	SNP	-	NULL	ENST00000276198.1	37	NULL	CCDS14564.1	X																																																																																			SNORA35	-	-	ENSG00000208839		0.552	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORA35	HGNC	protein_coding	OTTHUMT00000057962.1	-	0.00	11	0	A	NM_000868		113865309	+1	tier1	-	no_errors	ENST00000386104	ensembl	human	known	74_37	rna	73.33	4	11	SNP	1.000	G
SNPH	9751	genome.wustl.edu	37	20	1285832	1285832	+	Missense_Mutation	SNP	C	C	T	rs151237144	byFrequency	TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:1285832C>T	ENST00000381873.3	+	6	855	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	SNPH_ENST00000381867.1_Missense_Mutation_p.R251C	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	207					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTCCCCTGCCCGCTCCCTCAC	0.657													C|||	3	0.000599042	0.0008	0.0014	5008	,	,		17719	0.0		0.001	False		,,,				2504	0.0																0								C	CYS/ARG	1,4403	2.1+/-5.4	0,1,2201	41.0	36.0	38.0		619	4.8	1.0	20	dbSNP_134	38	0,8600		0,0,4300	yes	missense	SNPH	NM_014723.2	180	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	207/495	1285832	1,13003	2202	4300	6502	SO:0001583	missense	0				CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.619C>T	20.37:g.1285832C>T	ENSP00000371297:p.Arg207Cys		Q8IYI3	Missense_Mutation	SNP	NULL	p.R251C	ENST00000381873.3	37	c.751	CCDS13012.1	20	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553920	0.65425	2.27E-4	0.0	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	4.75	4.75	0.60458	.	0.070004	0.56097	D	0.000021	T	0.67618	0.2912	L	0.43152	1.355	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.74023	0.966;0.982	T	0.70226	-0.4930	9	0.87932	D	0	-27.2168	13.3165	0.60409	0.0:0.8411:0.1589:0.0	.	251;207	O15079-2;O15079	.;SNPH_HUMAN	C	207;251	.	ENSP00000371291:R251C	R	+	1	0	SNPH	1233832	0.962000	0.33011	1.000000	0.80357	0.936000	0.57629	2.271000	0.43364	2.479000	0.83701	0.561000	0.74099	CGC	SNPH	-	NULL	ENSG00000101298		0.657	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNPH	HGNC	protein_coding	OTTHUMT00000145240.2	-	0.00	19	0	C	NM_014723		1285832	+1	tier1	rs151237144	no_errors	ENST00000381867	ensembl	human	known	74_37	missense	21.05	15	4	SNP	1.000	T
SNRPN	6638	genome.wustl.edu	37	15	25223032	25223032	+	Silent	SNP	C	C	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:25223032C>A	ENST00000400100.1	+	11	1418	c.528C>A	c.(526-528)ccC>ccA	p.P176P	SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000444203.2_Silent_p.P180P|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000577565.1_Silent_p.P176P|SNRPN_ENST00000400098.1_Silent_p.P176P|SNRPN_ENST00000390687.4_Silent_p.P176P|SNRPN_ENST00000346403.6_Silent_p.P176P|SNRPN_ENST00000400097.1_Silent_p.P176P|SNHG14_ENST00000551631.2_RNA|SNRPN_ENST00000554227.2_Silent_p.P180P	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	176	Repeat-rich region.				response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GCACTCCGCCCCCACCCGTCG	0.567									Prader-Willi syndrome																																								0													27.0	29.0	29.0					15																	25223032		1931	4141	6072	SO:0001819	synonymous_variant	0	Familial Cancer Database	Prader-Labhart-Willi syndrome	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.528C>A	15.37:g.25223032C>A			B3KVR1|P14648|P17135|Q0D2Q5	Silent	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN	p.P180	ENST00000400100.1	37	c.540	CCDS10017.1	15																																																																																			SNRPN	-	pirsf_snRNP-assoc_SmB/SmN	ENSG00000128739		0.567	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SNRPN	HGNC	protein_coding	OTTHUMT00000413849.10	-	0.00	35	0	C	NM_003097		25223032	+1	tier1	-	no_errors	ENST00000444203	ensembl	human	known	74_37	silent	21.88	25	7	SNP	0.144	A
SNTB1	6641	genome.wustl.edu	37	8	121561073	121561073	+	Missense_Mutation	SNP	A	A	T	rs373208447		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:121561073A>T	ENST00000395601.3	-	6	1676	c.1262T>A	c.(1261-1263)cTc>cAc	p.L421H	SNTB1_ENST00000517992.1_Missense_Mutation_p.L421H	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	421	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			CCAGTGGGAGAGGTCCCTGCT	0.527																																																	0													220.0	168.0	186.0					8																	121561073		2203	4300	6503	SO:0001583	missense	0			AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.1262T>A	8.37:g.121561073A>T	ENSP00000378965:p.Leu421His		A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	pfam_PDZ,pfam_Pleckstrin_homology,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology	p.L421H	ENST00000395601.3	37	c.1262	CCDS6334.1	8	.	.	.	.	.	.	.	.	.	.	A	21.0	4.079362	0.76528	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.77489	-1.1;-1.1	5.68	5.68	0.88126	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.88786	0.6531	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.90427	0.4421	10	0.87932	D	0	.	15.9389	0.79739	1.0:0.0:0.0:0.0	.	421	Q13884	SNTB1_HUMAN	H	421	ENSP00000378965:L421H;ENSP00000431124:L421H	ENSP00000378965:L421H	L	-	2	0	SNTB1	121630254	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	9.339000	0.96797	2.160000	0.67779	0.533000	0.62120	CTC	SNTB1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000172164		0.527	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB1	HGNC	protein_coding	OTTHUMT00000381535.1	-	0.00	72	0	A	NM_021021		121561073	-1	tier1	-	no_errors	ENST00000395601	ensembl	human	known	74_37	missense	16.13	78	15	SNP	1.000	T
SORCS3	22986	genome.wustl.edu	37	10	106976760	106976760	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:106976760T>C	ENST00000369701.3	+	19	2841	c.2614T>C	c.(2614-2616)Ttc>Ctc	p.F872L	SORCS3_ENST00000369699.4_Missense_Mutation_p.F158L	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	872	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTACGCAAACTTCAGCCCCAT	0.512																																					NSCLC(116;1497 1690 7108 13108 14106)												0													164.0	124.0	137.0					10																	106976760		2203	4300	6503	SO:0001583	missense	0			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2614T>C	10.37:g.106976760T>C	ENSP00000358715:p.Phe872Leu		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.F872L	ENST00000369701.3	37	c.2614	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	T	8.155	0.788297	0.16258	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.59083	0.29;0.29	5.87	5.87	0.94306	PKD domain (4);	0.058143	0.64402	D	0.000001	T	0.30572	0.0769	N	0.01482	-0.84	0.48901	D	0.999723	B	0.09022	0.002	B	0.09377	0.004	T	0.28839	-1.0031	9	.	.	.	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	872	Q9UPU3	SORC3_HUMAN	L	872;158	ENSP00000358715:F872L;ENSP00000358713:F158L	.	F	+	1	0	SORCS3	106966750	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.669000	0.46825	2.371000	0.80710	0.533000	0.62120	TTC	SORCS3	-	pfam_PKD_dom,superfamily_PKD_dom,pfscan_PKD_dom	ENSG00000156395		0.512	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	-	0.00	63	0	T	NM_014978		106976760	+1	tier1	-	no_errors	ENST00000369701	ensembl	human	known	74_37	missense	28.57	30	12	SNP	1.000	C
SOX11	6664	genome.wustl.edu	37	2	5833012	5833012	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:5833012G>T	ENST00000322002.3	+	1	214	c.159G>T	c.(157-159)atG>atT	p.M53I	AC108025.2_ENST00000453678.1_RNA|AC108025.2_ENST00000420221.1_RNA|AC107057.2_ENST00000458264.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	53					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGCGGCCGATGAACGCGTTCA	0.612																																																	0													67.0	58.0	61.0					2																	5833012		2203	4300	6503	SO:0001583	missense	0				CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.159G>T	2.37:g.5833012G>T	ENSP00000322568:p.Met53Ile		Q4ZFV8	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom	p.M53I	ENST00000322002.3	37	c.159	CCDS1654.1	2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586175	0.86851	.	.	ENSG00000176887	ENST00000322002	D	0.94280	-3.39	3.12	3.12	0.35913	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	U	0.000000	D	0.97087	0.9048	M	0.91920	3.255	0.80722	D	1	D	0.57899	0.981	D	0.77004	0.989	D	0.98063	1.0394	10	0.87932	D	0	.	14.593	0.68383	0.0:0.0:1.0:0.0	.	53	P35716	SOX11_HUMAN	I	53	ENSP00000322568:M53I	ENSP00000322568:M53I	M	+	3	0	SOX11	5750463	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.351000	0.97073	1.449000	0.47699	0.472000	0.43445	ATG	SOX11	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom	ENSG00000176887		0.612	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX11	HGNC	protein_coding	OTTHUMT00000206698.1		0.00	65	0	G	NM_003108		5833012	+1			no_errors	ENST00000322002	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T
SOX14	8403	genome.wustl.edu	37	3	137484171	137484171	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:137484171G>T	ENST00000306087.1	+	1	593	c.545G>T	c.(544-546)tGc>tTc	p.C182F		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	182					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						AGCCTCAGCTGCCCCAGCCAG	0.682																																																	0													15.0	13.0	14.0					3																	137484171		2190	4279	6469	SO:0001583	missense	0			AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	11193	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.545G>T	3.37:g.137484171G>T	ENSP00000305343:p.Cys182Phe		B2RAC0|Q3KPH7	Missense_Mutation	SNP	pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.C182F	ENST00000306087.1	37	c.545	CCDS3094.1	3	.	.	.	.	.	.	.	.	.	.	G	12.36	1.913617	0.33815	.	.	ENSG00000168875	ENST00000306087	D	0.96168	-3.93	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.91768	0.7396	L	0.36672	1.1	0.80722	D	1	P	0.39424	0.673	B	0.38458	0.274	D	0.90359	0.4372	10	0.10377	T	0.69	.	17.8201	0.88648	0.0:0.0:1.0:0.0	.	182	O95416	SOX14_HUMAN	F	182	ENSP00000305343:C182F	ENSP00000305343:C182F	C	+	2	0	SOX14	138966861	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	6.341000	0.72977	2.449000	0.82847	0.511000	0.50034	TGC	SOX14	-	NULL	ENSG00000168875		0.682	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX14	HGNC	protein_coding	OTTHUMT00000357182.1		0.00	21	0	G	NM_004189		137484171	+1			no_errors	ENST00000306087	ensembl	human	known	74_37	missense	23.53	13	4	SNP	1.000	T
SPATA31D5P	347127	genome.wustl.edu	37	9	84533064	84533064	+	RNA	SNP	A	A	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:84533064A>G	ENST00000527857.1	+	0	3086					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		CCTTATAGAGACAGATGCCAA	0.448																																																	0																																												0					9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84533064A>G				RNA	SNP	-	NULL	ENST00000527857.1	37	NULL		9																																																																																			SPATA31D5P	-	-	ENSG00000240632		0.448	SPATA31D5P-002	KNOWN	basic	processed_transcript	SPATA31D5P	HGNC	pseudogene	OTTHUMT00000052810.2	-	0.00	126	0	A	NR_026851		84533064	+1	tier1	-	no_errors	ENST00000527857	ensembl	human	known	74_37	rna	33.87	41	21	SNP	0.001	G
SPTBN4	57731	genome.wustl.edu	37	19	41021258	41021258	+	Missense_Mutation	SNP	C	C	T	rs373335509		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:41021258C>T	ENST00000352632.3	+	15	2892	c.2806C>T	c.(2806-2808)Cgc>Tgc	p.R936C	SPTBN4_ENST00000598249.1_Missense_Mutation_p.R936C|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R936C|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R936C|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R936C			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	936					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTGATGGGCCGCGTTCTGGA	0.567																																																	0								C	CYS/ARG	0,4406		0,0,2203	54.0	40.0	45.0		2806	4.3	1.0	19		45	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPTBN4	NM_020971.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	936/2565	41021258	1,13005	2203	4300	6503	SO:0001583	missense	0			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.2806C>T	19.37:g.41021258C>T	ENSP00000263373:p.Arg936Cys		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R936C	ENST00000352632.3	37	c.2806	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671695	0.67928	0.0	1.16E-4	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.55588	0.51;0.51;0.51	4.34	4.34	0.51931	.	0.365309	0.21082	N	0.080475	T	0.73016	0.3533	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.973;0.998	T	0.77584	-0.2533	10	0.87932	D	0	.	15.7914	0.78367	0.0:1.0:0.0:0.0	.	936;936	Q9H254;Q71S06	SPTN4_HUMAN;.	C	936	ENSP00000263373:R936C;ENSP00000340345:R936C;ENSP00000340741:R936C	ENSP00000340345:R936C	R	+	1	0	SPTBN4	45713098	0.023000	0.18921	0.998000	0.56505	0.972000	0.66771	0.230000	0.17852	2.256000	0.74724	0.491000	0.48974	CGC	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000160460		0.567	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	-	0.00	65	0	C			41021258	+1	tier1	-	no_errors	ENST00000352632	ensembl	human	known	74_37	missense	27.27	40	15	SNP	1.000	T
SPTBN4	57731	genome.wustl.edu	37	19	41060159	41060159	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:41060159G>A	ENST00000352632.3	+	23	4867	c.4781G>A	c.(4780-4782)cGg>cAg	p.R1594Q	SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1594Q|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1594Q|SPTBN4_ENST00000392023.1_Missense_Mutation_p.R270Q|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R337Q|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1594Q			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1594					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCAGTGCGCCGGGGCCTGGAG	0.756																																																	0													4.0	4.0	4.0					19																	41060159		1936	3727	5663	SO:0001583	missense	0			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.4781G>A	19.37:g.41060159G>A	ENSP00000263373:p.Arg1594Gln		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R1594Q	ENST00000352632.3	37	c.4781	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	10.18	1.280077	0.23392	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	4.0	2.9	0.33743	.	0.581435	0.16200	N	0.224985	T	0.08980	0.0222	N	0.02842	-0.48	0.24741	N	0.993036	B;B;B;B;P	0.35628	0.015;0.015;0.012;0.217;0.513	B;B;B;B;B	0.30179	0.005;0.007;0.002;0.019;0.112	T	0.12578	-1.0542	10	0.15066	T	0.55	.	3.911	0.09204	0.1255:0.0:0.4904:0.3841	.	337;337;270;1594;1594	Q9H254-3;C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;.;SPTN4_HUMAN;.	Q	1594;1594;1594;337;270	ENSP00000263373:R1594Q;ENSP00000340345:R1594Q;ENSP00000375879:R337Q;ENSP00000375877:R270Q	ENSP00000340345:R1594Q	R	+	2	0	SPTBN4	45751999	0.000000	0.05858	0.976000	0.42696	0.654000	0.38779	-0.994000	0.03716	2.057000	0.61298	0.484000	0.47621	CGG	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000160460		0.756	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2		0.00	11	0	G			41060159	+1			no_errors	ENST00000352632	ensembl	human	known	74_37	missense	50.00	4	4	SNP	0.576	A
SRRM2	23524	genome.wustl.edu	37	16	2813939	2813939	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:2813939G>A	ENST00000301740.8	+	11	3959	c.3410G>A	c.(3409-3411)aGg>aAg	p.R1137K		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1137	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.R1137M(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAGCAGAGCAGGTTCCAGTCT	0.463																																																	1	Substitution - Missense(1)	endometrium(1)											86.0	90.0	89.0					16																	2813939		2198	4300	6498	SO:0001583	missense	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.3410G>A	16.37:g.2813939G>A	ENSP00000301740:p.Arg1137Lys		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.R1137K	ENST00000301740.8	37	c.3410	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	G	3.165	-0.171162	0.06421	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	D	0.92397	-3.03	5.71	2.52	0.30459	.	0.323721	0.30649	N	0.009179	T	0.77465	0.4134	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60490	-0.7253	10	0.06236	T	0.91	-0.9172	1.8531	0.03173	0.1863:0.1578:0.4935:0.1623	.	1137	Q9UQ35	SRRM2_HUMAN	K	1137;1137;389	ENSP00000301740:R1137K	ENSP00000301740:R1137K	R	+	2	0	SRRM2	2753940	0.477000	0.25909	0.300000	0.25030	0.949000	0.60115	0.427000	0.21379	0.265000	0.21872	0.655000	0.94253	AGG	SRRM2	-	NULL	ENSG00000167978		0.463	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	-	0.00	22	0	G			2813939	+1	tier1	-	no_errors	ENST00000301740	ensembl	human	known	74_37	missense	20.00	24	6	SNP	0.283	A
SRCAP	10847	genome.wustl.edu	37	16	30731618	30731618	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:30731618C>T	ENST00000262518.4	+	19	3338	c.2953C>T	c.(2953-2955)Ccc>Tcc	p.P985S	SRCAP_ENST00000395059.2_Missense_Mutation_p.P985S|SRCAP_ENST00000344771.4_Missense_Mutation_p.P985S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	985	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGACCCCCCACCCCGGCCCAA	0.577																																																	0													89.0	99.0	96.0					16																	30731618		2197	4300	6497	SO:0001583	missense	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.2953C>T	16.37:g.30731618C>T	ENSP00000262518:p.Pro985Ser		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.P985S	ENST00000262518.4	37	c.2953	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149389	0.78001	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92647	-3.08;-2.91;-2.81	5.45	5.45	0.79879	.	0.000000	0.50627	D	0.000118	D	0.95178	0.8437	L	0.58101	1.795	0.49582	D	0.999803	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.94836	0.8000	10	0.49607	T	0.09	-11.4183	18.0431	0.89324	0.0:1.0:0.0:0.0	.	985;985;985	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	S	985	ENSP00000262518:P985S;ENSP00000378499:P985S;ENSP00000343042:P985S	ENSP00000262518:P985S	P	+	1	0	SRCAP	30639119	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.206000	0.77891	2.550000	0.86006	0.585000	0.79938	CCC	SRCAP	-	NULL	ENSG00000080603		0.577	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	-	0.00	44	0	C	NM_006662		30731618	+1	tier1	-	no_errors	ENST00000262518	ensembl	human	known	74_37	missense	20.00	40	10	SNP	1.000	T
SSH2	85464	genome.wustl.edu	37	17	27959030	27959030	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:27959030T>G	ENST00000269033.3	-	15	3252	c.3101A>C	c.(3100-3102)gAg>gCg	p.E1034A	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.E1061A	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1034					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCGCTCTTCTCACTGGTGGC	0.488																																																	0													133.0	121.0	125.0					17																	27959030		2203	4300	6503	SO:0001583	missense	0			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.3101A>C	17.37:g.27959030T>G	ENSP00000269033:p.Glu1034Ala		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.E1034A	ENST00000269033.3	37	c.3101	CCDS11253.1	17	.	.	.	.	.	.	.	.	.	.	T	2.508	-0.313700	0.05422	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.10960	2.82;2.82	5.97	4.89	0.63831	.	0.815284	0.11284	N	0.580039	T	0.08447	0.0210	N	0.21448	0.665	0.23325	N	0.997901	B;B	0.09022	0.001;0.002	B;B	0.08055	0.003;0.002	T	0.31586	-0.9938	10	0.41790	T	0.15	-0.0491	8.4063	0.32616	0.0:0.0681:0.1324:0.7995	.	1061;1034	F5H527;Q76I76	.;SSH2_HUMAN	A	1034;1061	ENSP00000269033:E1034A;ENSP00000444743:E1061A	ENSP00000269033:E1034A	E	-	2	0	SSH2	24983156	0.000000	0.05858	0.006000	0.13384	0.010000	0.07245	0.488000	0.22371	1.080000	0.41073	0.533000	0.62120	GAG	SSH2	-	NULL	ENSG00000141298		0.488	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1	-	0.00	67	0	T	NM_033389		27959030	-1	tier1	-	no_errors	ENST00000269033	ensembl	human	known	74_37	missense	45.35	46	39	SNP	0.009	G
SSTR3	6753	genome.wustl.edu	37	22	37603090	37603090	+	Silent	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr22:37603090G>A	ENST00000328544.3	-	2	1286	c.753C>T	c.(751-753)tcC>tcT	p.S251S	SSTR3_ENST00000402501.1_Silent_p.S251S	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	251			S -> F (in dbSNP:rs6413537).		cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	CCCTGCGTTCGGAGCGCCGCC	0.672																																																	0													37.0	34.0	35.0					22																	37603090		2201	4293	6494	SO:0001819	synonymous_variant	0				CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.753C>T	22.37:g.37603090G>A			A8K550|Q53ZR7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_3,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_B/W_rcpt	p.S251	ENST00000328544.3	37	c.753	CCDS13944.1	22																																																																																			SSTR3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt	ENSG00000183473		0.672	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR3	HGNC	protein_coding	OTTHUMT00000318802.1	-	0.00	39	0	G			37603090	-1	tier1	-	no_errors	ENST00000328544	ensembl	human	known	74_37	silent	57.14	9	12	SNP	0.000	A
ST6GALNAC1	55808	genome.wustl.edu	37	17	74625767	74625767	+	Missense_Mutation	SNP	T	T	A	rs553287484		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:74625767T>A	ENST00000156626.7	-	2	357	c.158A>T	c.(157-159)gAa>gTa	p.E53V	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	53					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TAGAGACCTTTCTTTAATGTT	0.478																																																	0													120.0	112.0	115.0					17																	74625767		2203	4300	6503	SO:0001583	missense	0			Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.158A>T	17.37:g.74625767T>A	ENSP00000156626:p.Glu53Val		Q6UW90|Q9NSC6	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.E53V	ENST00000156626.7	37	c.158	CCDS11748.1	17	.	.	.	.	.	.	.	.	.	.	T	9.797	1.179547	0.21787	.	.	ENSG00000070526	ENST00000156626;ENST00000359088	T;T	0.31769	1.5;1.48	4.35	-6.26	0.02033	.	2.902000	0.02150	N	0.057941	T	0.15046	0.0363	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10451	-1.0629	10	0.46703	T	0.11	1.5227	0.7715	0.01024	0.391:0.2683:0.134:0.2067	.	53	Q9NSC7	SIA7A_HUMAN	V	53	ENSP00000156626:E53V;ENSP00000351991:E53V	ENSP00000156626:E53V	E	-	2	0	ST6GALNAC1	72137362	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.929000	0.01558	-1.254000	0.02485	-0.892000	0.02923	GAA	ST6GALNAC1	-	NULL	ENSG00000070526		0.478	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC1	HGNC	protein_coding	OTTHUMT00000450974.1	-	0.00	27	0	T	NM_018414		74625767	-1	tier1	-	no_errors	ENST00000156626	ensembl	human	known	74_37	missense	20.83	19	5	SNP	0.000	A
STAB2	55576	genome.wustl.edu	37	12	104131498	104131498	+	Silent	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:104131498T>C	ENST00000388887.2	+	53	5841	c.5637T>C	c.(5635-5637)tgT>tgC	p.C1879C		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GCATTGACTGTCTGCTGATTG	0.498																																																	0													113.0	107.0	109.0					12																	104131498		2203	4300	6503	SO:0001819	synonymous_variant	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5637T>C	12.37:g.104131498T>C				Silent	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.C1879	ENST00000388887.2	37	c.5637	CCDS31888.1	12																																																																																			STAB2	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain	ENSG00000136011		0.498	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	-	0.00	97	0	T			104131498	+1	tier1	-	no_errors	ENST00000388887	ensembl	human	known	74_37	silent	15.58	129	24	SNP	0.999	C
STAC	6769	genome.wustl.edu	37	3	36526484	36526484	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:36526484C>T	ENST00000273183.3	+	4	805	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	STAC_ENST00000457375.2_Intron|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	169					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GGGGTTTCGGCGTTACTACAG	0.453																																																	0													167.0	146.0	153.0					3																	36526484		2203	4300	6503	SO:0001583	missense	0			D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.505C>T	3.37:g.36526484C>T	ENSP00000273183:p.Arg169Cys		B2R8S8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.R169C	ENST00000273183.3	37	c.505	CCDS2662.1	3	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467529	0.84533	.	.	ENSG00000144681	ENST00000273183;ENST00000544687	D	0.82619	-1.63	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.90635	0.7063	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90835	0.4719	10	0.87932	D	0	.	18.9159	0.92506	0.0:1.0:0.0:0.0	.	169	Q99469	STAC_HUMAN	C	169;101	ENSP00000273183:R169C	ENSP00000273183:R169C	R	+	1	0	STAC	36501488	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.259000	0.58828	2.840000	0.97914	0.655000	0.94253	CGT	STAC	-	NULL	ENSG00000144681		0.453	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAC	HGNC	protein_coding	OTTHUMT00000253338.2	-	0.00	73	0	C	NM_003149		36526484	+1	tier1	-	no_errors	ENST00000273183	ensembl	human	known	74_37	missense	28.33	43	17	SNP	1.000	T
STAC3	246329	genome.wustl.edu	37	12	57643391	57643391	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:57643391G>T	ENST00000332782.2	-	2	230	c.29C>A	c.(28-30)cCt>cAt	p.P10H	R3HDM2_ENST00000413953.2_Intron|STAC3_ENST00000554578.1_Intron|STAC3_ENST00000546246.2_Intron|RP11-123K3.4_ENST00000548184.1_Intron	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	10					intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						GGAGGGCTTAGGGGACTCCAG	0.547																																																	0													67.0	64.0	65.0					12																	57643391		2203	4300	6503	SO:0001583	missense	0			AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.29C>A	12.37:g.57643391G>T	ENSP00000329200:p.Pro10His		B4DUK9|Q96HU5	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox	p.P10H	ENST00000332782.2	37	c.29	CCDS8936.1	12	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030502	0.75504	.	.	ENSG00000185482	ENST00000332782;ENST00000553489	T;D	0.94687	-1.48;-3.49	4.92	4.02	0.46733	.	0.186018	0.26704	N	0.022929	D	0.86994	0.6067	N	0.08118	0	0.80722	D	1	B	0.24576	0.106	B	0.27170	0.077	T	0.82594	-0.0380	10	0.34782	T	0.22	-10.4763	12.0929	0.53737	0.0:0.0:0.8272:0.1728	.	10	Q96MF2	STAC3_HUMAN	H	10	ENSP00000329200:P10H;ENSP00000452299:P10H	ENSP00000329200:P10H	P	-	2	0	STAC3	55929658	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	3.800000	0.55537	1.209000	0.43321	0.650000	0.86243	CCT	STAC3	-	NULL	ENSG00000185482		0.547	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAC3	HGNC	protein_coding	OTTHUMT00000412724.2	-	0.00	74	0	G	NM_145064		57643391	-1	tier1	-	no_errors	ENST00000332782	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T
STOML1	9399	genome.wustl.edu	37	15	74281474	74281474	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:74281474C>T	ENST00000316900.5	-	3	489	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	STOML1_ENST00000541638.1_Missense_Mutation_p.R80Q|STOML1_ENST00000564777.1_Intron|STOML1_ENST00000359750.4_Missense_Mutation_p.R122Q|STOML1_ENST00000561656.1_Missense_Mutation_p.R35Q|STOML1_ENST00000316911.6_Intron	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	122						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GTTGAAGGCTCGTGTCCTCAG	0.602																																																	0													60.0	55.0	57.0					15																	74281474		2198	4297	6495	SO:0001583	missense	0			Y16522	CCDS10254.1, CCDS58381.1, CCDS58382.1, CCDS58383.1, CCDS58384.1, CCDS58385.1	15q24-q25	2008-07-18			ENSG00000067221	ENSG00000067221			14560	protein-coding gene	gene with protein product	"""stomatin-like 1"", ""stomatin (EBP72)-like 1"""	608326				9931417	Standard	NM_004809		Approved	hUNC-24, SLP-1, STORP, FLJ36370	uc002awe.4	Q9UBI4	OTTHUMG00000137608	ENST00000316900.5:c.365G>A	15.37:g.74281474C>T	ENSP00000319323:p.Arg122Gln		B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9	Missense_Mutation	SNP	pfam_Band_7,pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom,smart_Band_7,prints_Stomatin	p.R122Q	ENST00000316900.5	37	c.365	CCDS10254.1	15	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822847	0.50739	.	.	ENSG00000067221	ENST00000316900;ENST00000541638;ENST00000359750	D;D;D	0.93426	-3.22;-3.22;-3.22	4.97	4.97	0.65823	.	0.055837	0.64402	D	0.000004	D	0.93638	0.7968	L	0.33293	1	0.48087	D	0.999585	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.986;0.969;0.989;0.989	D	0.93359	0.6725	10	0.56958	D	0.05	-2.2598	10.4688	0.44624	0.0:0.9101:0.0:0.0899	.	80;122;122;122	B4DUU5;E7ESC0;Q53HB6;Q9UBI4	.;.;.;STML1_HUMAN	Q	122;80;122	ENSP00000319323:R122Q;ENSP00000442478:R80Q;ENSP00000352788:R122Q	ENSP00000319323:R122Q	R	-	2	0	STOML1	72068527	1.000000	0.71417	0.675000	0.29917	0.002000	0.02628	5.544000	0.67231	2.287000	0.76781	0.467000	0.42956	CGA	STOML1	-	pfam_Band_7,smart_Band_7	ENSG00000067221		0.602	STOML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOML1	HGNC	protein_coding	OTTHUMT00000269022.1		0.00	27	0	C	NM_004809		74281474	-1			no_errors	ENST00000316900	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.962	T
SYCE1	93426	genome.wustl.edu	37	10	135373623	135373623	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:135373623C>A	ENST00000343131.5	-	2	212	c.108G>T	c.(106-108)ttG>ttT	p.L36F	SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000432597.2_5'UTR|SYCE1_ENST00000368517.3_5'UTR	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	36					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CCATTTCCATCAAGTCTTCAA	0.522																																																	0													183.0	129.0	148.0					10																	135373623		2203	4300	6503	SO:0001583	missense	0			AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"""cancer/testis antigen 76"""	611486	"""chromosome 10 open reading frame 94"""	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.108G>T	10.37:g.135373623C>A	ENSP00000341282:p.Leu36Phe		B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	NULL	p.L36F	ENST00000343131.5	37	c.108	CCDS44501.1	10	.	.	.	.	.	.	.	.	.	.	.	16.80	3.223737	0.58668	.	.	ENSG00000171772	ENST00000303903;ENST00000343131	T;T	0.50813	0.73;1.12	4.42	1.55	0.23275	.	.	.	.	.	T	0.58192	0.2105	L	0.55990	1.75	0.29822	N	0.830721	D	0.89917	1.0	D	0.87578	0.998	T	0.52968	-0.8504	9	0.72032	D	0.01	-3.1538	5.9249	0.19104	0.0:0.6669:0.0:0.3331	.	36	Q8N0S2	SYCE1_HUMAN	F	36	ENSP00000303978:L36F;ENSP00000341282:L36F	ENSP00000303978:L36F	L	-	3	2	SYCE1	135223613	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	0.534000	0.23098	0.371000	0.24564	-0.253000	0.11424	TTG	SYCE1	-	NULL	ENSG00000171772		0.522	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYCE1	HGNC	protein_coding		-	0.00	90	0	C	NM_201564		135373623	-1	tier1	-	no_errors	ENST00000343131	ensembl	human	known	74_37	missense	27.27	40	15	SNP	0.995	A
SYNDIG1	79953	genome.wustl.edu	37	20	24523764	24523764	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:24523764C>T	ENST00000376862.3	+	2	664	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	11					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GAAGAGCATGCTGGTGCACAG	0.512																																																	0													93.0	89.0	90.0					20																	24523764		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.31C>T	20.37:g.24523764C>T			Q6IA30|Q9H514	Silent	SNP	pfam_CD225/Dispanin_fam	p.L11	ENST00000376862.3	37	c.31	CCDS13164.1	20																																																																																			SYNDIG1	-	NULL	ENSG00000101463		0.512	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNDIG1	HGNC	protein_coding	OTTHUMT00000078376.1	-	0.00	52	0	C	NM_024893		24523764	+1	tier1	-	no_errors	ENST00000376862	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.724	T
SYNE1	23345	genome.wustl.edu	37	6	152469273	152469273	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:152469273G>T	ENST00000367255.5	-	137	25484	c.24883C>A	c.(24883-24885)Ctg>Atg	p.L8295M	SYNE1_ENST00000539504.1_Missense_Mutation_p.L450M|SYNE1_ENST00000356820.4_Missense_Mutation_p.L2819M|SYNE1_ENST00000354674.4_Missense_Mutation_p.L450M|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Missense_Mutation_p.L8224M|SYNE1_ENST00000448038.1_Missense_Mutation_p.L8224M|SYNE1_ENST00000341594.5_Missense_Mutation_p.L7907M|SYNE1_ENST00000265368.4_Missense_Mutation_p.L8295M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8295					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCAGACTCCAGGTCCCGACTG	0.587										HNSCC(10;0.0054)																																							0													61.0	59.0	59.0					6																	152469273		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24883C>A	6.37:g.152469273G>T	ENSP00000356224:p.Leu8295Met		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L8295M	ENST00000367255.5	37	c.24883	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	17.96	3.517262	0.64634	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.60171	0.45;4.55;1.36;0.21;0.36;0.21;0.59;2.46;1.12;4.13	5.26	4.38	0.52667	.	0.000000	0.42821	D	0.000644	T	0.64136	0.2571	M	0.66939	2.045	0.47698	D	0.99949	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.995	D;D;D;D;P	0.91635	0.999;0.999;0.991;0.979;0.862	T	0.64525	-0.6387	10	0.33940	T	0.23	.	13.5612	0.61790	0.0754:0.0:0.9246:0.0	.	8295;8295;8224;8224;497	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	M	8295;450;941;8224;8295;8224;7907;2819;457;452;1217;450	ENSP00000356224:L8295M;ENSP00000441052:L450M;ENSP00000356226:L941M;ENSP00000396024:L8224M;ENSP00000265368:L8295M;ENSP00000390975:L8224M;ENSP00000341887:L7907M;ENSP00000349276:L2819M;ENSP00000356220:L1217M;ENSP00000346701:L450M	ENSP00000265368:L8295M	L	-	1	2	SYNE1	152510966	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.163000	0.42377	1.219000	0.43474	0.563000	0.77884	CTG	SYNE1	-	NULL	ENSG00000131018		0.587	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0.00	36	0	G	NM_182961		152469273	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	40.74	16	11	SNP	1.000	T
TACR1	6869	genome.wustl.edu	37	2	75425905	75425905	+	Silent	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:75425905T>C	ENST00000305249.5	-	1	921	c.156A>G	c.(154-156)gtA>gtG	p.V52V	TACR1_ENST00000409848.3_Silent_p.V52V	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	52					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TCCACATCACTACCACGTTGC	0.527																																					Pancreas(64;62 1268 3653 14826 43765)												0													156.0	132.0	140.0					2																	75425905		2203	4300	6503	SO:0001819	synonymous_variant	0			M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.156A>G	2.37:g.75425905T>C			A8K150	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NK1_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK3_rcpt	p.V52	ENST00000305249.5	37	c.156	CCDS1958.1	2																																																																																			TACR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000115353		0.527	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR1	HGNC	protein_coding	OTTHUMT00000252239.3	-	0.00	40	0	T	NM_001058		75425905	-1	tier1	-	no_errors	ENST00000305249	ensembl	human	known	74_37	silent	9.30	39	4	SNP	1.000	C
TAF10	6881	genome.wustl.edu	37	11	6632681	6632681	+	Silent	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:6632681G>A	ENST00000299424.4	-	3	867	c.390C>T	c.(388-390)atC>atT	p.I130I	RP11-732A19.2_ENST00000527398.1_RNA|TAF10_ENST00000531760.1_5'UTR	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	130					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTGCATCTGGGATCTGAGAAA	0.512																																																	0													63.0	59.0	60.0					11																	6632681		2201	4296	6497	SO:0001819	synonymous_variant	0			U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"""	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402	ENST00000299424.4:c.390C>T	11.37:g.6632681G>A			O00703|Q13175|Q6FH13	Silent	SNP	pfam_TFIID_30kDa,pirsf_TFIID_30kDa,prints_TFIID_30kDa	p.I130	ENST00000299424.4	37	c.390	CCDS7769.1	11																																																																																			TAF10	-	pfam_TFIID_30kDa,pirsf_TFIID_30kDa,prints_TFIID_30kDa	ENSG00000166337		0.512	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF10	HGNC	protein_coding	OTTHUMT00000257259.2	-	0.00	19	0	G	NM_006284		6632681	-1	tier1	-	no_errors	ENST00000299424	ensembl	human	known	74_37	silent	61.11	6	11	SNP	1.000	A
TAF1L	138474	genome.wustl.edu	37	9	32631536	32631536	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:32631536G>T	ENST00000242310.4	-	1	4131	c.4042C>A	c.(4042-4044)Cta>Ata	p.L1348I	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1348					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTCTCAATTAGCTGTTTCCCG	0.428																																																	0													241.0	240.0	241.0					9																	32631536		2203	4300	6503	SO:0001583	missense	0			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4042C>A	9.37:g.32631536G>T	ENSP00000418379:p.Leu1348Ile		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.L1348I	ENST00000242310.4	37	c.4042	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625084	0.66901	.	.	ENSG00000122728	ENST00000242310	T	0.08896	3.04	1.56	1.56	0.23342	.	0.000000	0.85682	D	0.000000	T	0.10981	0.0268	L	0.47016	1.485	0.47659	D	0.999489	P	0.45283	0.855	P	0.48334	0.574	T	0.06607	-1.0817	10	0.46703	T	0.11	.	8.618	0.33845	0.0:0.0:1.0:0.0	.	1348	Q8IZX4	TAF1L_HUMAN	I	1348	ENSP00000418379:L1348I	ENSP00000418379:L1348I	L	-	1	2	TAF1L	32621536	1.000000	0.71417	0.974000	0.42286	0.609000	0.37215	4.690000	0.61731	0.507000	0.28148	0.195000	0.17529	CTA	TAF1L	-	pirsf_TAF1_animal	ENSG00000122728		0.428	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	-	0.00	82	0	G			32631536	-1	tier1	-	no_errors	ENST00000242310	ensembl	human	known	74_37	missense	60.24	33	50	SNP	1.000	T
TANC1	85461	genome.wustl.edu	37	2	160032893	160032893	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:160032893delT	ENST00000263635.6	+	13	2003	c.1766delT	c.(1765-1767)attfs	p.I589fs	TANC1_ENST00000454300.1_Frame_Shift_Del_p.I483fs	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	589					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GAATACATTATTTTGATAGAT	0.299																																																	0													71.0	68.0	69.0					2																	160032893		1795	4054	5849	SO:0001589	frameshift_variant	0			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.1766delT	2.37:g.160032893delT	ENSP00000263635:p.Ile589fs		C9JD88|Q49AI8	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.L590fs	ENST00000263635.6	37	c.1766	CCDS42766.1	2																																																																																			TANC1	-	NULL	ENSG00000115183		0.299	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1		0.00	62	0	T			160032893	+1	tier1		no_errors	ENST00000263635	ensembl	human	known	74_37	frame_shift_del	48.94	24	23	DEL	1.000	-
TBC1D19	55296	genome.wustl.edu	37	4	26750061	26750061	+	Silent	SNP	C	C	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:26750061C>A	ENST00000264866.4	+	19	1626	c.1348C>A	c.(1348-1350)Cga>Aga	p.R450R	TBC1D19_ENST00000511789.1_Silent_p.R385R	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	450	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				GTGGATGGTTCGAGCTTTCTC	0.343																																																	0													143.0	143.0	143.0					4																	26750061		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.1348C>A	4.37:g.26750061C>A			B9A6M0|Q9NUX1	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R450	ENST00000264866.4	37	c.1348	CCDS3439.1	4																																																																																			TBC1D19	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000109680		0.343	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D19	HGNC	protein_coding	OTTHUMT00000215052.2	-	0.00	48	0	C	NM_018317		26750061	+1	tier1	-	no_errors	ENST00000264866	ensembl	human	known	74_37	silent	33.33	12	6	SNP	0.996	A
TBC1D3F	84218	genome.wustl.edu	37	17	36288208	36288208	+	Silent	SNP	G	G	A	rs549947963	byFrequency	TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:36288208G>A	ENST00000327454.6	+	6	440	c.294G>A	c.(292-294)gcG>gcA	p.A98A	TBC1D3F_ENST00000378174.5_Silent_p.A98A|TBC1D3F_ENST00000539424.1_Silent_p.A18A|TBC1D3F_ENST00000505415.1_Silent_p.A98A	NM_032258.2	NP_115634.2	A6NER0	TBC3F_HUMAN	TBC1 domain family, member 3F	98						plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			liver(1)|pancreas(1)	2						TAGATCGAGCGTACAAGGGAA	0.552													.|||	2	0.000399361	0.0	0.0014	5008	,	,		56135	0.0		0.001	False		,,,				2504	0.0																0													159.0	106.0	123.0					17																	36288208		876	1983	2859	SO:0001819	synonymous_variant	0					17q12	2014-09-16				ENSG00000275954			18257	protein-coding gene	gene with protein product		610809				16863688	Standard	NM_032258		Approved			A6NER0	OTTHUMG00000188428	ENST00000327454.6:c.294G>A	17.37:g.36288208G>A				Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.A98	ENST00000327454.6	37	c.294	CCDS45657.1	17																																																																																			TBC1D3F	-	superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom	ENSG00000185128		0.552	TBC1D3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D3F	HGNC	protein_coding	OTTHUMT00000256100.3	-	0.00	359	0	G	NM_032258.2		36288208	+1	tier1	-	no_errors	ENST00000327454	ensembl	human	known	74_37	silent	14.55	363	62	SNP	0.997	A
TBX4	9496	genome.wustl.edu	37	17	59533902	59533902	+	Silent	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:59533902G>A	ENST00000240335.1	+	1	96	c.51G>A	c.(49-51)ccG>ccA	p.P17P	TBX4_ENST00000393853.4_Silent_p.P17P	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	17					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TCCGGGCCCCGGGCCCAGCGC	0.746																																																	0													8.0	7.0	8.0					17																	59533902		2123	4194	6317	SO:0001819	synonymous_variant	0			AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.51G>A	17.37:g.59533902G>A			A5PKU7|B2RMT1|B7ZLV3	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.P17	ENST00000240335.1	37	c.51	CCDS11629.1	17																																																																																			TBX4	-	NULL	ENSG00000121075		0.746	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TBX4	HGNC	protein_coding	OTTHUMT00000449649.1	-	0.00	40	0	G	NM_018488		59533902	+1	tier1	-	no_errors	ENST00000393853	ensembl	human	known	74_37	silent	38.89	22	14	SNP	0.996	A
TBX5	6910	genome.wustl.edu	37	12	114793830	114793830	+	Missense_Mutation	SNP	C	C	A	rs145784562		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:114793830C>A	ENST00000310346.4	-	9	1730	c.1064G>T	c.(1063-1065)cGc>cTc	p.R355L	TBX5_ENST00000405440.2_Missense_Mutation_p.R355L|TBX5_ENST00000349716.5_Missense_Mutation_p.R305L	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	355					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		ATAGCTAGAGCGGTAGAAGGA	0.562																																					NSCLC(152;1358 1980 4050 23898 40356)												0													121.0	111.0	114.0					12																	114793830		2203	4300	6503	SO:0001583	missense	0			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1064G>T	12.37:g.114793830C>A	ENSP00000309913:p.Arg355Leu		A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.R355L	ENST00000310346.4	37	c.1064	CCDS9173.1	12	.	.	.	.	.	.	.	.	.	.	C	28.0	4.881885	0.91740	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.53423	0.62;0.62;0.62	5.27	5.27	0.74061	.	0.281915	0.33895	N	0.004457	T	0.62672	0.2447	M	0.79475	2.455	0.80722	D	1	D	0.58620	0.983	P	0.51806	0.68	T	0.65894	-0.6057	10	0.45353	T	0.12	.	18.8889	0.92391	0.0:1.0:0.0:0.0	.	355	Q99593	TBX5_HUMAN	L	305;355;252;355	ENSP00000337723:R305L;ENSP00000309913:R355L;ENSP00000384152:R355L	ENSP00000309913:R355L	R	-	2	0	TBX5	113278213	1.000000	0.71417	0.949000	0.38748	0.831000	0.47069	7.487000	0.81328	2.463000	0.83235	0.655000	0.94253	CGC	TBX5	-	NULL	ENSG00000089225		0.562	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TBX5	HGNC	protein_coding	OTTHUMT00000388297.1	-	0.00	35	0	C	NM_080717		114793830	-1	tier1	-	no_errors	ENST00000310346	ensembl	human	known	74_37	missense	39.22	31	20	SNP	1.000	A
TCHH	7062	genome.wustl.edu	37	1	152084220	152084220	+	Silent	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:152084220G>A	ENST00000368804.1	-	2	1472	c.1473C>T	c.(1471-1473)ctC>ctT	p.L491L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	491	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.L491L(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCTCCTCGAGCTTCAGCC	0.672																																																	1	Substitution - coding silent(1)	lung(1)											63.0	70.0	68.0					1																	152084220		2105	4220	6325	SO:0001819	synonymous_variant	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1473C>T	1.37:g.152084220G>A			Q5VUI3	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.L491	ENST00000368804.1	37	c.1473	CCDS41396.1	1																																																																																			TCHH	-	NULL	ENSG00000159450		0.672	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	-	0.00	158	0	G	NM_007113		152084220	-1	tier1	-	no_errors	ENST00000368804	ensembl	human	known	74_37	silent	19.67	147	36	SNP	0.000	A
TDRD12	91646	genome.wustl.edu	37	19	33309051	33309052	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:33309051_33309052insG	ENST00000444215.2	+	27	3691_3692	c.3371_3372insG	c.(3370-3375)caggggfs	p.QG1124fs				Q587J7	TDR12_HUMAN	tudor domain containing 12	1124					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			NS(1)|breast(1)|endometrium(3)|lung(2)|prostate(1)|skin(1)	9	Esophageal squamous(110;0.137)					tccgaggagcagggggggcagg	0.584																																																	0																																										SO:0001589	frameshift_variant	0			AK023134	CCDS46038.1	19q13.11	2013-01-23				ENSG00000173809		"""Tudor domain containing"""	25044	protein-coding gene	gene with protein product						11441184	Standard	NM_001110822		Approved	ECAT8, FLJ13072	uc002ntq.2	Q587J7		ENST00000444215.2:c.3378dupG	19.37:g.33309058_33309058dupG	ENSP00000416248:p.Gln1124fs			Frame_Shift_Ins	INS	pfam_Tudor,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase	p.Q1127fs	ENST00000444215.2	37	c.3371_3372		19																																																																																			TDRD12	-	NULL	ENSG00000173809		0.584	TDRD12-001	KNOWN	basic|appris_principal	protein_coding	TDRD12	HGNC	protein_coding	OTTHUMT00000435933.1		0.00	49	0	-	NM_001015890		33309052	+1	tier1		no_errors	ENST00000444215	ensembl	human	known	74_37	frame_shift_ins	22.22	28	8	INS	0.001:0.000	G
TDRD15	100129278	genome.wustl.edu	37	2	21363502	21363502	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:21363502G>A	ENST00000405799.1	+	4	3493	c.3163G>A	c.(3163-3165)Gta>Ata	p.V1055I				B5MCY1	TDR15_HUMAN	tudor domain containing 15	1055	Tudor 5. {ECO:0000255|PROSITE- ProRule:PRU00211}.						hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)										TAAGCAATTAGTAGGAGAAAA	0.368																																																	0																																										SO:0001583	missense	0					2p24.1	2013-01-23	2013-01-23	2013-01-23	ENSG00000218819	ENSG00000218819		"""Tudor domain containing"""	45037	protein-coding gene	gene with protein product							Standard	XR_425376		Approved			B5MCY1	OTTHUMG00000151795	ENST00000405799.1:c.3163G>A	2.37:g.21363502G>A	ENSP00000384376:p.Val1055Ile			Missense_Mutation	SNP	pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor	p.V1055I	ENST00000405799.1	37	c.3163		2	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618213	0.46736	.	.	ENSG00000218819	ENST00000405799	T	0.13307	2.6	5.52	5.52	0.82312	.	.	.	.	.	T	0.23410	0.0566	.	.	.	.	.	.	.	.	.	.	.	.	T	0.06320	-1.0833	5	0.32370	T	0.25	1.2451	14.6879	0.69062	0.0715:0.0:0.9285:0.0	.	.	.	.	I	1055	ENSP00000384376:V1055I	ENSP00000384376:V1055I	V	+	1	0	AC010872.2	21217007	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	3.411000	0.52672	2.599000	0.87857	0.563000	0.77884	GTA	TDRD15	-	pfam_Tudor,smart_Tudor,pfscan_Tudor	ENSG00000218819		0.368	TDRD15-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	TDRD15	HGNC	protein_coding	OTTHUMT00000323948.1	-	0.00	58	0	G			21363502	+1	tier1	-	no_errors	ENST00000405799	ensembl	human	novel	74_37	missense	56.92	28	37	SNP	0.991	A
TERF1	7013	genome.wustl.edu	37	8	73921284	73921286	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:73921284_73921286delGAG	ENST00000276603.5	+	1	186_188	c.163_165delGAG	c.(163-165)gagdel	p.E62del	TERF1_ENST00000276602.6_In_Frame_Del_p.E62del	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	62	Asp/Glu-rich (acidic).|Poly-Glu.|TRFH dimerization.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GGGGGCCCCCgaggaggaggagg	0.65																																																	0																																										SO:0001651	inframe_deletion	0			U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.163_165delGAG	8.37:g.73921293_73921295delGAG	ENSP00000276603:p.Glu62del		A7XP29|Q15553|Q8NHT6|Q93029	In_Frame_Del	DEL	pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom	p.E58in_frame_del	ENST00000276603.5	37	c.163_165	CCDS6211.1	8																																																																																			TERF1	-	pirsf_Telomere_repeat-bd-1/2	ENSG00000147601		0.650	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERF1	HGNC	protein_coding	OTTHUMT00000379093.1		0.00	34	0	GAG	NM_017489		73921286	+1	tier1		no_errors	ENST00000276603	ensembl	human	known	74_37	in_frame_del	9.09	20	2	DEL	0.121:0.130:0.144	-
TET3	200424	genome.wustl.edu	37	2	74275330	74275330	+	Silent	SNP	G	G	A	rs566225972		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:74275330G>A	ENST00000409262.3	+	1	1881	c.1881G>A	c.(1879-1881)tcG>tcA	p.S627S		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	627					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTGAGTCTTCGGGGGCTGTGA	0.587																																																	0													34.0	42.0	39.0					2																	74275330		1956	4155	6111	SO:0001819	synonymous_variant	0				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.1881G>A	2.37:g.74275330G>A			A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	NULL	p.S627	ENST00000409262.3	37	c.1881	CCDS46339.1	2																																																																																			TET3	-	NULL	ENSG00000187605		0.587	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	-	0.00	54	0	G			74275330	+1	tier1	-	no_errors	ENST00000409262	ensembl	human	known	74_37	silent	24.00	38	12	SNP	0.150	A
TEX15	56154	genome.wustl.edu	37	8	30694695	30694695	+	Silent	SNP	A	A	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:30694695A>G	ENST00000256246.2	-	3	8030	c.7956T>C	c.(7954-7956)ttT>ttC	p.F2652F		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2652					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATGAAGTTCCAAATAAATGCT	0.383																																																	0													139.0	140.0	140.0					8																	30694695		2203	4300	6503	SO:0001819	synonymous_variant	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7956T>C	8.37:g.30694695A>G				Silent	SNP	NULL	p.F2652	ENST00000256246.2	37	c.7956	CCDS6080.1	8																																																																																			TEX15	-	NULL	ENSG00000133863		0.383	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1		0.00	45	0	A			30694695	-1			no_errors	ENST00000256246	ensembl	human	known	74_37	silent	10.71	25	3	SNP	0.055	G
TEX37	200523	genome.wustl.edu	37	2	88828813	88828813	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:88828813G>A	ENST00000303254.3	+	4	506	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	122						nucleus (GO:0005634)											GGCCCAGGGTGACCCCAACCA	0.592																																																	0													121.0	110.0	113.0					2																	88828813		2203	4300	6503	SO:0001583	missense	0			AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073			26341	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 21kDa"""		"""chromosome 2 open reading frame 51"""	C2orf51		17091336	Standard	NM_152670		Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.364G>A	2.37:g.88828813G>A	ENSP00000307142:p.Asp122Asn			Missense_Mutation	SNP	NULL	p.D122N	ENST00000303254.3	37	c.364	CCDS2003.1	2	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041802	0.35989	.	.	ENSG00000172073	ENST00000303254	T	0.57907	0.37	3.98	0.0185	0.14117	.	0.412228	0.20693	N	0.087439	T	0.34135	0.0887	L	0.34521	1.04	0.09310	N	1	B	0.22909	0.077	B	0.19391	0.025	T	0.16928	-1.0386	10	0.51188	T	0.08	-2.8584	4.4571	0.11649	0.2093:0.3624:0.4283:0.0	.	122	Q96LM6	TSC21_HUMAN	N	122	ENSP00000307142:D122N	ENSP00000307142:D122N	D	+	1	0	C2orf51	88609928	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.120000	0.10660	-0.009000	0.14296	0.462000	0.41574	GAC	TEX37	-	NULL	ENSG00000172073		0.592	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX37	HGNC	protein_coding	OTTHUMT00000252682.1	-	0.00	43	0	G	NM_152670		88828813	+1	tier1	-	no_errors	ENST00000303254	ensembl	human	known	74_37	missense	10.53	51	6	SNP	0.000	A
THEMIS	387357	genome.wustl.edu	37	6	128134235	128134238	+	Frame_Shift_Del	DEL	ACTA	ACTA	-	rs150659844		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	ACTA	ACTA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:128134235_128134238delACTA	ENST00000368248.2	-	4	1696_1699	c.1548_1551delTAGT	c.(1546-1551)gttagtfs	p.VS516fs	THEMIS_ENST00000543064.1_Frame_Shift_Del_p.VS516fs|THEMIS_ENST00000537166.1_Frame_Shift_Del_p.VS481fs|THEMIS_ENST00000368250.1_Frame_Shift_Del_p.VS437fs	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	516	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TAGAGAAATTACTAACTAACTGAA	0.441																																																	0																																										SO:0001589	frameshift_variant	0			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1548_1551delTAGT	6.37:g.128134239_128134242delACTA	ENSP00000357231:p.Val516fs		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Frame_Shift_Del	DEL	NULL	p.S517fs	ENST00000368248.2	37	c.1551_1548	CCDS34534.1	6																																																																																			THEMIS	-	NULL	ENSG00000172673		0.441	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	THEMIS	HGNC	protein_coding			0.00	55	0	ACTA	NM_001010923		128134238	-1	tier1		no_errors	ENST00000543064	ensembl	human	known	74_37	frame_shift_del	17.24	24	5	DEL	0.000:0.015:0.015:0.017	-
THSD7A	221981	genome.wustl.edu	37	7	11485918	11485918	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:11485918G>A	ENST00000423059.4	-	13	3085	c.2834C>T	c.(2833-2835)tCc>tTc	p.S945F	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	945	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATACAAATGGGAATTTTTACA	0.358										HNSCC(18;0.044)																																							0													158.0	151.0	153.0					7																	11485918		1818	4083	5901	SO:0001583	missense	0				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2834C>T	7.37:g.11485918G>A	ENSP00000406482:p.Ser945Phe			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.S945F	ENST00000423059.4	37	c.2834	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978448	0.74360	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.61510	0.1	5.74	5.74	0.90152	.	0.263382	0.42964	D	0.000629	T	0.61912	0.2385	L	0.43152	1.355	0.35780	D	0.8216	P	0.40250	0.709	P	0.46510	0.519	T	0.67421	-0.5675	10	0.48119	T	0.1	.	19.9317	0.97122	0.0:0.0:1.0:0.0	.	945	Q9UPZ6	THS7A_HUMAN	F	945	ENSP00000406482:S945F	ENSP00000262042:S945F	S	-	2	0	THSD7A	11452443	1.000000	0.71417	0.977000	0.42913	0.997000	0.91878	3.132000	0.50523	2.716000	0.92895	0.591000	0.81541	TCC	THSD7A	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000005108		0.358	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	-	0.00	42	0	G	XM_928187.2		11485918	-1	tier1	-	no_errors	ENST00000423059	ensembl	human	known	74_37	missense	28.33	43	17	SNP	0.849	A
TLK2	11011	genome.wustl.edu	37	17	60673967	60673967	+	Silent	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:60673967G>T	ENST00000326270.9	+	18	1816	c.1548G>T	c.(1546-1548)cgG>cgT	p.R516R	TLK2_ENST00000542523.1_Silent_p.R462R|TLK2_ENST00000346027.5_Silent_p.R494R|TLK2_ENST00000343388.7_Silent_p.R462R|TLK2_ENST00000582809.1_Silent_p.R345R	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	516	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GGGAATACCGGATTCATAAAG	0.378																																																	0													205.0	178.0	187.0					17																	60673967		2203	4300	6503	SO:0001819	synonymous_variant	0			AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.1548G>T	17.37:g.60673967G>T			D3DU07|Q9UKI7|Q9Y4F7	Silent	SNP	pfam_Prot_kinase_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_dom	p.R516	ENST00000326270.9	37	c.1548		17																																																																																			TLK2	-	pfam_Prot_kinase_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_dom	ENSG00000146872		0.378	TLK2-004	KNOWN	basic	protein_coding	TLK2	HGNC	protein_coding	OTTHUMT00000445140.1	-	0.00	58	0	G	NM_006852		60673967	+1	tier1	-	no_errors	ENST00000326270	ensembl	human	known	74_37	silent	5.97	63	4	SNP	1.000	T
TMED1	11018	genome.wustl.edu	37	19	10943821	10943821	+	Silent	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:10943821G>A	ENST00000214869.2	-	4	632	c.534C>T	c.(532-534)ttC>ttT	p.F178F	TMED1_ENST00000591695.1_Missense_Mutation_p.S117L|TMED1_ENST00000588289.1_Silent_p.F33F	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	178					cell-cell signaling (GO:0007267)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						CACGTGCCTCGAAGGCCCGCA	0.647																																																	0													63.0	58.0	60.0					19																	10943821		2203	4300	6503	SO:0001819	synonymous_variant	0			U41804	CCDS12249.1	19p13.2	2008-02-05	2005-08-26			ENSG00000099203			17291	protein-coding gene	gene with protein product		605395	"""transmembrane emp24 domain containing 1"""			11466339, 8621446	Standard	NM_006858		Approved	ST2L, MGC1270, IL1RL1LG, Il1rl1l	uc002mpy.3	Q13445		ENST00000214869.2:c.534C>T	19.37:g.10943821G>A				Missense_Mutation	SNP	pfam_GOLD,superfamily_GOLD	p.S117L	ENST00000214869.2	37	c.350	CCDS12249.1	19																																																																																			TMED1	-	NULL	ENSG00000099203		0.647	TMED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED1	HGNC	protein_coding	OTTHUMT00000452614.1	-	0.00	56	0	G	NM_006858		10943821	-1	tier1	-	no_errors	ENST00000591695	ensembl	human	putative	74_37	missense	45.45	18	15	SNP	0.099	A
TMEM134	80194	genome.wustl.edu	37	11	67232038	67232038	+	3'UTR	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:67232038C>T	ENST00000308022.2	-	0	676				CTC-1337H24.2_ENST00000602944.1_lincRNA|TMEM134_ENST00000541059.1_5'UTR|TMEM134_ENST00000393877.3_3'UTR	NM_001078651.1|NM_025124.2	NP_001072119.1|NP_079400.1	Q9H6X4	TM134_HUMAN	transmembrane protein 134							integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						CGGAACAGGGCAAGAGGGGCG	0.647																																																	0													19.0	27.0	24.0					11																	67232038		1943	3791	5734	SO:0001624	3_prime_UTR_variant	0			AK025402	CCDS8167.1, CCDS41678.1	11q13.2	2006-03-09			ENSG00000172663	ENSG00000172663			26142	protein-coding gene	gene with protein product							Standard	NM_025124		Approved	FLJ21749	uc001olq.2	Q9H6X4	OTTHUMG00000168034	ENST00000308022.2:c.*47G>A	11.37:g.67232038C>T			Q08AK4|Q6PJN3	RNA	SNP	-	NULL	ENST00000308022.2	37	NULL	CCDS8167.1	11																																																																																			TMEM134	-	-	ENSG00000172663		0.647	TMEM134-020	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TMEM134	HGNC	protein_coding	OTTHUMT00000398994.1	-	0.00	92	0	C	NM_025124		67232038	-1	tier1	-	no_errors	ENST00000535813	ensembl	human	known	74_37	rna	52.33	41	45	SNP	0.000	T
TNR	7143	genome.wustl.edu	37	1	175375752	175375752	+	Silent	SNP	C	C	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:175375752C>A	ENST00000367674.2	-	3	807	c.99G>T	c.(97-99)ctG>ctT	p.L33L	TNR_ENST00000263525.2_Silent_p.L33L			Q92752	TENR_HUMAN	tenascin R	33					associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGTGACCTCCAGCTGACACT	0.537																																																	0													208.0	181.0	190.0					1																	175375752		2203	4300	6503	SO:0001819	synonymous_variant	0			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.99G>T	1.37:g.175375752C>A			C9J563|Q15568|Q5R3G0	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.L33	ENST00000367674.2	37	c.99	CCDS1318.1	1																																																																																			TNR	-	NULL	ENSG00000116147		0.537	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4	-	0.00	69	0	C	NM_003285		175375752	-1	tier1	-	no_errors	ENST00000263525	ensembl	human	known	74_37	silent	24.44	34	11	SNP	1.000	A
TOM1L1	10040	genome.wustl.edu	37	17	53016302	53016302	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:53016302T>G	ENST00000575882.1	+	11	1404	c.1051T>G	c.(1051-1053)Tct>Gct	p.S351A	TOM1L1_ENST00000445275.2_Missense_Mutation_p.S351A|TOM1L1_ENST00000572158.1_Missense_Mutation_p.S344A|TOM1L1_ENST00000540336.1_Missense_Mutation_p.S239A|TOM1L1_ENST00000348161.4_Missense_Mutation_p.S274A|TOM1L1_ENST00000536554.1_Missense_Mutation_p.S274A	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	351					activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						CCTTCCAAGTTCTGATGTAAC	0.363																																																	0													94.0	86.0	89.0					17																	53016302		2203	4300	6503	SO:0001583	missense	0			AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"""target of myb1 (chicken) homolog-like 1"""			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.1051T>G	17.37:g.53016302T>G	ENSP00000460823:p.Ser351Ala		Q53G06|Q8N749	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.S351A	ENST00000575882.1	37	c.1051	CCDS11582.1	17	.	.	.	.	.	.	.	.	.	.	T	2.045	-0.419093	0.04766	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T;T	0.21932	2.0;1.98;1.98;1.98	5.1	0.708	0.18144	.	2.465520	0.01695	N	0.026854	T	0.10078	0.0247	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.22695	-1.0209	10	0.13108	T	0.6	-0.0393	3.3564	0.07171	0.1801:0.5225:0.0:0.2974	.	239;344;274;351	B4DUW5;B4E1N0;B7Z9E2;O75674	.;.;.;TM1L1_HUMAN	A	351;239;274;274	ENSP00000408958:S351A;ENSP00000441242:S239A;ENSP00000343901:S274A;ENSP00000443099:S274A	ENSP00000343901:S274A	S	+	1	0	TOM1L1	50371301	0.004000	0.15560	0.007000	0.13788	0.588000	0.36517	0.341000	0.19909	0.714000	0.32081	-0.479000	0.04858	TCT	TOM1L1	-	pirsf_TOM1	ENSG00000141198		0.363	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TOM1L1	HGNC	protein_coding	OTTHUMT00000439029.2	-	0.00	71	0	T	NM_005486		53016302	+1	tier1	-	no_errors	ENST00000575882	ensembl	human	known	74_37	missense	19.72	57	14	SNP	0.000	G
TPM2	7169	genome.wustl.edu	37	9	35689162	35689162	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:35689162G>T	ENST00000360958.2	-	2	325	c.221C>A	c.(220-222)gCc>gAc	p.A74D	TPM2_ENST00000378300.5_Missense_Mutation_p.A74D|TPM2_ENST00000378292.3_Missense_Mutation_p.A74D|TPM2_ENST00000329305.2_Missense_Mutation_p.A74D	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	74					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTTCTTCTCGGCCTGCTCCAG	0.577																																																	0													172.0	169.0	170.0					9																	35689162		2203	4300	6503	SO:0001583	missense	0				CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.221C>A	9.37:g.35689162G>T	ENSP00000354219:p.Ala74Asp		A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Missense_Mutation	SNP	pfam_Tropomyosin,prints_Tropomyosin	p.A74D	ENST00000360958.2	37	c.221	CCDS6587.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.441633	0.96187	.	.	ENSG00000198467	ENST00000378300;ENST00000378292;ENST00000329305;ENST00000360958	T;D;D;D	0.97598	1.18;-4.45;-4.45;-4.45	4.94	4.94	0.65067	.	.	.	.	.	D	0.98927	0.9636	H	0.95437	3.67	0.80722	D	1	P;P;D;P;P	0.64830	0.801;0.554;0.994;0.896;0.868	D;P;D;P;P	0.74674	0.925;0.761;0.984;0.867;0.878	D	0.99357	1.0916	9	0.62326	D	0.03	-3.5491	17.9425	0.89029	0.0:0.0:1.0:0.0	.	74;74;74;74;74	B4DGC2;A7XZE4;P07951;Q5TCU8;P07951-2	.;.;TPM2_HUMAN;.;.	D	74	ENSP00000367550:A74D;ENSP00000367542:A74D;ENSP00000367541:A74D;ENSP00000354219:A74D	ENSP00000367541:A74D	A	-	2	0	TPM2	35679162	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	9.644000	0.98468	2.559000	0.86315	0.561000	0.74099	GCC	TPM2	-	pfam_Tropomyosin	ENSG00000198467		0.577	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPM2	HGNC	protein_coding	OTTHUMT00000052376.1		0.00	55	0	G	NM_003289		35689162	-1			no_errors	ENST00000360958	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	T
TPR	7175	genome.wustl.edu	37	1	186331970	186331972	+	Splice_Site	DEL	TCT	TCT	-			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:186331970_186331972delTCT	ENST00000367478.4	-	6	989_991	c.693_695delAGA	c.(691-696)gaagag>gag	p.231_232EE>E	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	231					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTAACTTACCTCTTCTTTTTTAT	0.296			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	0																																										SO:0001630	splice_region_variant	0			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.696+1AGA>-	1.37:g.186331973_186331975delTCT			Q15655|Q5SWY0|Q99968	In_Frame_Del	DEL	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.E232in_frame_del	ENST00000367478.4	37	c.695_693	CCDS41446.1	1																																																																																			TPR	-	NULL	ENSG00000047410		0.296	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2		0.00	34	0	TCT	NM_003292	In_Frame_Del	186331972	-1	tier1		no_errors	ENST00000367478	ensembl	human	known	74_37	in_frame_del	20.69	23	6	DEL	1.000:1.000:0.914	-
CACNA1H	8912	genome.wustl.edu	37	16	1272740	1272740	+	IGR	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:1272740G>T	ENST00000348261.5	+	0	8084				TPSG1_ENST00000234798.4_Silent_p.I141I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit						aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	AGACGGGCAGGATCCGGCTGG	0.692																																																	0													43.0	49.0	47.0					16																	1272740		2199	4300	6499	SO:0001628	intergenic_variant	0			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180			16.37:g.1272740G>T			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.I141	ENST00000348261.5	37	c.423	CCDS45375.1	16																																																																																			TPSG1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000116176		0.692	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	TPSG1	HGNC	protein_coding	OTTHUMT00000421601.1	-	0.00	68	0	G	NM_001005407		1272740	-1	tier1	-	no_errors	ENST00000234798	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.316	T
TRAM1L1	133022	genome.wustl.edu	37	4	118005607	118005607	+	Missense_Mutation	SNP	A	A	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:118005607A>C	ENST00000310754.4	-	1	1129	c.943T>G	c.(943-945)Tta>Gta	p.L315V		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	315	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AGAGTAATTAAGTTCCATGTT	0.408																																																	0													138.0	135.0	136.0					4																	118005607		2203	4300	6503	SO:0001583	missense	0			AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.943T>G	4.37:g.118005607A>C	ENSP00000309402:p.Leu315Val		Q8N2L7	Missense_Mutation	SNP	pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	p.L315V	ENST00000310754.4	37	c.943	CCDS3707.1	4	.	.	.	.	.	.	.	.	.	.	A	6.876	0.531108	0.13127	.	.	ENSG00000174599	ENST00000310754	T	0.44482	0.92	3.59	2.4	0.29515	TRAM/LAG1/CLN8 homology domain (2);	0.228556	0.44902	D	0.000401	T	0.35248	0.0925	L	0.33485	1.01	0.09310	N	0.999999	B	0.32862	0.387	B	0.42959	0.403	T	0.27157	-1.0082	10	0.62326	D	0.03	-24.3027	5.7828	0.18316	0.8779:0.0:0.1221:0.0	.	315	Q8N609	TR1L1_HUMAN	V	315	ENSP00000309402:L315V	ENSP00000309402:L315V	L	-	1	2	TRAM1L1	118225055	1.000000	0.71417	0.338000	0.25549	0.057000	0.15508	1.721000	0.38032	0.732000	0.32470	-0.297000	0.09499	TTA	TRAM1L1	-	pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	ENSG00000174599		0.408	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM1L1	HGNC	protein_coding	OTTHUMT00000256513.1	-	0.00	62	0	A	NM_152402		118005607	-1	tier1	-	no_errors	ENST00000310754	ensembl	human	known	74_37	missense	29.82	40	17	SNP	0.297	C
TRANK1	9881	genome.wustl.edu	37	3	36898232	36898232	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:36898232C>T	ENST00000429976.2	-	12	3096	c.2849G>A	c.(2848-2850)cGc>cAc	p.R950H	TRANK1_ENST00000428977.2_Missense_Mutation_p.R400H|TRANK1_ENST00000301807.6_Missense_Mutation_p.R400H	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	950							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CACATAGCAGCGAGGTATACG	0.502																																																	0													199.0	196.0	197.0					3																	36898232		2069	4216	6285	SO:0001583	missense	0			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.2849G>A	3.37:g.36898232C>T	ENSP00000416168:p.Arg950His		Q8N8K0	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.R950H	ENST00000429976.2	37	c.2849	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591933	0.66219	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.35973	1.28;1.7;1.28	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000005	T	0.48040	0.1478	L	0.32530	0.975	0.48632	D	0.999681	D	0.89917	1.0	D	0.68621	0.959	T	0.41910	-0.9482	10	0.59425	D	0.04	.	14.5815	0.68295	0.1461:0.8539:0.0:0.0	.	950	O15050	TRNK1_HUMAN	H	400;950;400	ENSP00000416826:R400H;ENSP00000416168:R950H;ENSP00000301807:R400H	ENSP00000301807:R400H	R	-	2	0	TRANK1	36873236	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.098000	0.41757	2.759000	0.94783	0.549000	0.68633	CGC	TRANK1	-	NULL	ENSG00000168016		0.502	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		-	0.00	31	0	C	NM_014831		36898232	-1	tier1	-	no_errors	ENST00000429976	ensembl	human	known	74_37	missense	28.57	15	6	SNP	1.000	T
TRIM3	10612	genome.wustl.edu	37	11	6478611	6478611	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:6478611G>A	ENST00000525074.1	-	5	1005	c.611C>T	c.(610-612)gCg>gTg	p.A204V	TRIM3_ENST00000536344.1_Missense_Mutation_p.A85V|TRIM3_ENST00000359518.3_Missense_Mutation_p.A204V|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000537602.1_Missense_Mutation_p.A204V|TRIM3_ENST00000345851.3_Missense_Mutation_p.A204V	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	204					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCCTCGAACGCTGCACTGAT	0.607																																					Melanoma(6;5 510 1540 25169 29084)												0													104.0	94.0	97.0					11																	6478611		2201	4296	6497	SO:0001583	missense	0			AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.611C>T	11.37:g.6478611G>A	ENSP00000433102:p.Ala204Val		B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.A204V	ENST00000525074.1	37	c.611	CCDS7764.1	11	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350767	0.41599	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344;ENST00000528227	T;T;T;T;D;T	0.83837	-0.68;-0.68;-0.87;-0.68;-1.77;0.91	5.15	4.24	0.50183	B-box, C-terminal (1);	0.151951	0.64402	N	0.000014	T	0.70954	0.3283	L	0.34521	1.04	0.41623	D	0.988977	B;B;B	0.17667	0.006;0.023;0.001	B;B;B	0.10450	0.005;0.004;0.002	T	0.61836	-0.6981	10	0.13470	T	0.59	-10.1111	9.177	0.37118	0.0826:0.147:0.7705:0.0	.	85;85;204	F5H2Q8;D3DQT4;O75382	.;.;TRIM3_HUMAN	V	204;204;204;204;193;204;204;85;204	ENSP00000433102:A204V;ENSP00000340797:A204V;ENSP00000441091:A204V;ENSP00000352508:A204V;ENSP00000445460:A85V;ENSP00000433070:A204V	ENSP00000337094:A193V	A	-	2	0	TRIM3	6435187	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.859000	0.69539	1.169000	0.42739	0.462000	0.41574	GCG	TRIM3	-	smart_Bbox_C	ENSG00000110171		0.607	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM3	HGNC	protein_coding	OTTHUMT00000384224.2	-	0.00	24	0	G	NM_006458		6478611	-1	tier1	-	no_errors	ENST00000345851	ensembl	human	known	74_37	missense	53.85	12	14	SNP	1.000	A
TRIM37	4591	genome.wustl.edu	37	17	57165645	57165645	+	Intron	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:57165645G>A	ENST00000262294.7	-	4	541				TRIM37_ENST00000376149.3_Intron|TRIM37_ENST00000393066.3_Intron|TRIM37_ENST00000584889.1_Silent_p.V96V|TRIM37_ENST00000393065.2_Intron	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37						aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGAAATTGAGGACATACTTGT	0.328									Mulibrey Nanism																																								0													112.0	100.0	104.0					17																	57165645		2203	4300	6503	SO:0001627	intron_variant	0	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.281+6C>T	17.37:g.57165645G>A			Q7Z3E6|Q8IYF7|Q8WYF7	Silent	SNP	pfscan_Znf_RING	p.V96	ENST00000262294.7	37	c.288	CCDS32694.1	17																																																																																			TRIM37	-	NULL	ENSG00000108395		0.328	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM37	HGNC	protein_coding	OTTHUMT00000445930.1	-	0.00	23	0	G	NM_015294		57165645	-1	tier1	-	no_errors	ENST00000584889	ensembl	human	putative	74_37	silent	29.03	22	9	SNP	0.001	A
TRIM64C	646754	genome.wustl.edu	37	11	49078792	49078792	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:49078792G>A	ENST00000530230.1	-	4	636	c.637C>T	c.(637-639)Caa>Taa	p.Q213*		NM_001206631.1	NP_001193560.1	A6NLI5	TR64C_HUMAN	tripartite motif containing 64C	212						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						ATTCTCACTTGACTGTCTTGT	0.468																																																	0																																										SO:0001587	stop_gained	0				CCDS73287.1	11p11.12	2014-04-02	2011-01-25		ENSG00000214891	ENSG00000214891		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	37148	protein-coding gene	gene with protein product			"""tripartite motif-containing 64C"""				Standard	NM_001206631		Approved		uc021qiy.1	A6NLI5	OTTHUMG00000166752	ENST00000530230.1:c.637C>T	11.37:g.49078792G>A	ENSP00000431987:p.Gln213*			Nonsense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.Q213*	ENST00000530230.1	37	c.637		11	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527185	0.27299	.	.	ENSG00000214891	ENST00000530230	.	.	.	1.55	-0.677	0.11357	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	7.1424	0.25564	0.0:0.4281:0.5719:0.0	.	.	.	.	X	213	.	ENSP00000431987:Q213X	Q	-	1	0	TRIM64C	49035368	0.000000	0.05858	0.000000	0.03702	0.355000	0.29361	-1.298000	0.02756	-0.160000	0.11002	0.184000	0.17185	CAA	TRIM64C	-	NULL	ENSG00000214891		0.468	TRIM64C-001	KNOWN	basic|appris_principal	protein_coding	TRIM64C	HGNC	protein_coding	OTTHUMT00000391366.1	-	0.00	186	0	G			49078792	-1	tier1	-	no_errors	ENST00000530230	ensembl	human	known	74_37	nonsense	29.38	137	57	SNP	0.000	A
TRPM3	80036	genome.wustl.edu	37	9	73399029	73399029	+	Silent	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:73399029T>C	ENST00000377111.2	-	7	1383	c.1140A>G	c.(1138-1140)gaA>gaG	p.E380E	TRPM3_ENST00000357533.2_Silent_p.E382E|TRPM3_ENST00000396285.1_Silent_p.E227E|TRPM3_ENST00000423814.3_Silent_p.E407E|TRPM3_ENST00000360823.2_Silent_p.E252E|TRPM3_ENST00000361823.5_Silent_p.E227E|TRPM3_ENST00000377110.3_Silent_p.E380E|TRPM3_ENST00000396292.4_Silent_p.E252E|TRPM3_ENST00000396283.1_Silent_p.E252E|TRPM3_ENST00000377105.1_Silent_p.E227E|TRPM3_ENST00000377101.1_Silent_p.E227E|TRPM3_ENST00000408909.2_Silent_p.E227E|TRPM3_ENST00000377106.1_Silent_p.E252E|TRPM3_ENST00000358082.3_Silent_p.E252E|TRPM3_ENST00000396280.5_Silent_p.E227E	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	405					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACCCGCCTTCTTCTGAGTATT	0.512																																																	0													91.0	86.0	88.0					9																	73399029		2203	4300	6503	SO:0001819	synonymous_variant	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1140A>G	9.37:g.73399029T>C			A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	pfam_Ion_trans_dom	p.E407	ENST00000377111.2	37	c.1221		9	.	.	.	.	.	.	.	.	.	.	T	9.693	1.152467	0.21371	.	.	ENSG00000083067	ENST00000396280	.	.	.	5.61	4.47	0.54385	.	.	.	.	.	T	0.63022	0.2476	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60429	-0.7265	4	.	.	.	-21.643	11.6881	0.51499	0.0:0.0691:0.0:0.9309	.	.	.	.	G	227	.	.	R	-	1	2	TRPM3	72588849	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.136000	0.42121	1.062000	0.40625	0.533000	0.62120	AGA	TRPM3	-	NULL	ENSG00000083067		0.512	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	-	0.00	78	0	T	NM_206945		73399029	-1	tier1	-	no_errors	ENST00000423814	ensembl	human	known	74_37	silent	34.15	27	14	SNP	1.000	C
TTBK1	84630	genome.wustl.edu	37	6	43251696	43251696	+	Missense_Mutation	SNP	T	T	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:43251696T>A	ENST00000259750.4	+	14	3301	c.3218T>A	c.(3217-3219)cTg>cAg	p.L1073Q		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1073					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TCAGGCTCACTGTCGGCCAAA	0.687																																																	0													18.0	18.0	18.0					6																	43251696		2183	4237	6420	SO:0001583	missense	0			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.3218T>A	6.37:g.43251696T>A	ENSP00000259750:p.Leu1073Gln		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	pfam_Prot_kinase_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_dom	p.L1073Q	ENST00000259750.4	37	c.3218	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	T	14.60	2.585150	0.46110	.	.	ENSG00000146216	ENST00000259750	T	0.56275	0.47	5.02	5.02	0.67125	.	0.348022	0.23768	N	0.044741	T	0.30135	0.0755	L	0.46157	1.445	0.80722	D	1	P	0.37015	0.578	B	0.36186	0.219	T	0.38802	-0.9644	10	0.72032	D	0.01	.	8.102	0.30863	0.2912:0.0:0.0:0.7087	.	1073	Q5TCY1	TTBK1_HUMAN	Q	1073	ENSP00000259750:L1073Q	ENSP00000259750:L1073Q	L	+	2	0	TTBK1	43359674	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.837000	0.55820	1.885000	0.54596	0.374000	0.22700	CTG	TTBK1	-	NULL	ENSG00000146216		0.687	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	-	0.00	26	0	T			43251696	+1	tier1	-	no_errors	ENST00000259750	ensembl	human	known	74_37	missense	19.05	34	8	SNP	0.995	A
CFAP46	54777	genome.wustl.edu	37	10	134626329	134626329	+	Silent	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:134626329G>T	ENST00000368586.5	-	55	7561	c.7461C>A	c.(7459-7461)tcC>tcA	p.S2487S	TTC40_ENST00000263170.5_Silent_p.S648S	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTAATATATGGGACAGGAAGC	0.602																																																	0													90.0	90.0	90.0					10																	134626329		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000368586.5:c.7461C>A	10.37:g.134626329G>T				Silent	SNP	NULL	p.S648	ENST00000368586.5	37	c.1944	CCDS58101.1	10																																																																																			TTC40	-	NULL	ENSG00000171811		0.602	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3		0.00	15	0	G			134626329	-1			no_errors	ENST00000263170	ensembl	human	known	74_37	silent	25.00	6	2	SNP	0.110	T
TTN	7273	genome.wustl.edu	37	2	179469737	179469737	+	Missense_Mutation	SNP	C	C	T	rs376932266		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:179469737C>T	ENST00000591111.1	-	230	49468	c.49244G>A	c.(49243-49245)cGa>cAa	p.R16415Q	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9116Q|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18056Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R8991Q|TTN_ENST00000342992.6_Missense_Mutation_p.R15488Q|TTN_ENST00000342175.6_Missense_Mutation_p.R9183Q			Q8WZ42	TITIN_HUMAN	titin	16415	Ig-like 100.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGAACATTTCGGAACACTGA	0.438																																																	0								C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3884		0,0,1942	259.0	241.0	247.0		26972,46463,27347,27548	5.1	1.0	2		247	1,8263		0,1,4131	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	43,43,43,43	0,1,6073	TT,TC,CC		0.0121,0.0,0.0082	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	8991/26927,15488/33424,9116/27052,9183/27119	179469737	1,12147	1942	4132	6074	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49244G>A	2.37:g.179469737C>T	ENSP00000465570:p.Arg16415Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R15488Q	ENST00000591111.1	37	c.46463		2	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563247	0.45694	0.0	1.21E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.95	5.07	0.68467	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53126	0.1777	L	0.31476	0.935	0.44652	D	0.997631	P;P;P;P	0.46142	0.873;0.873;0.873;0.774	B;B;B;B	0.35655	0.207;0.207;0.207;0.207	T	0.60959	-0.7159	9	0.87932	D	0	.	15.0246	0.71659	0.0:0.9319:0.0:0.0681	.	8991;9116;9183;16415	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	15488;8991;9183;9116;8991	ENSP00000343764:R15488Q;ENSP00000434586:R8991Q;ENSP00000340554:R9183Q;ENSP00000352154:R9116Q	ENSP00000340554:R9183Q	R	-	2	0	TTN	179177982	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.754000	0.55189	1.517000	0.48917	0.563000	0.77884	CGA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000155657		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	32	0	C	NM_133378		179469737	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	34.38	21	11	SNP	1.000	T
TTYH3	80727	genome.wustl.edu	37	7	2695802	2695802	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:2695802G>A	ENST00000258796.7	+	10	1302	c.1097G>A	c.(1096-1098)tGc>tAc	p.C366Y	TTYH3_ENST00000403167.1_Missense_Mutation_p.C195Y|TTYH3_ENST00000407643.1_Missense_Mutation_p.C334Y	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	366					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CTGGTGGACTGCCGCAGCCTG	0.682																																																	0													17.0	15.0	16.0					7																	2695802		2185	4276	6461	SO:0001583	missense	0				CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.1097G>A	7.37:g.2695802G>A	ENSP00000258796:p.Cys366Tyr		A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Missense_Mutation	SNP	pfam_Tweety	p.C366Y	ENST00000258796.7	37	c.1097	CCDS34588.1	7	.	.	.	.	.	.	.	.	.	.	G	16.12	3.031867	0.54790	.	.	ENSG00000136295	ENST00000258796;ENST00000407643;ENST00000403167;ENST00000429448	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	4.45	3.56	0.40772	.	0.000000	0.85682	U	0.000000	T	0.45498	0.1345	M	0.87381	2.88	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.52305	-0.8593	10	0.87932	D	0	-4.5698	12.2774	0.54744	0.0842:0.0:0.9158:0.0	.	195;366	Q9C0H2-3;Q9C0H2	.;TTYH3_HUMAN	Y	366;334;195;26	ENSP00000258796:C366Y;ENSP00000385316:C334Y;ENSP00000385015:C195Y;ENSP00000413757:C26Y	ENSP00000258796:C366Y	C	+	2	0	TTYH3	2662328	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	5.495000	0.66912	0.876000	0.35872	-0.381000	0.06696	TGC	TTYH3	-	pfam_Tweety	ENSG00000136295		0.682	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTYH3	HGNC	protein_coding	OTTHUMT00000325082.2	-	0.00	59	0	G	XM_166523		2695802	+1	tier1	-	no_errors	ENST00000258796	ensembl	human	known	74_37	missense	7.25	63	5	SNP	1.000	A
PRDM7	11105	genome.wustl.edu	37	16	90161061	90161061	+	5'Flank	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:90161061G>A	ENST00000569206.1	-	0	0				TUBB8P7_ENST00000567960.1_RNA|TUBB8P7_ENST00000564451.1_RNA			Q9NQW5	PRDM7_HUMAN	PR domain containing 7						regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		AGCTGCGGGCGAGGACTGGGG	0.647																																																	0																																										SO:0001631	upstream_gene_variant	0			AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990		16.37:g.90161061G>A	Exception_encountered		A4Q9G8|Q08EM4|Q9NQW4	RNA	SNP	-	NULL	ENST00000569206.1	37	NULL		16																																																																																			TUBB8P7	-	-	ENSG00000261812		0.647	PRDM7-009	KNOWN	basic	processed_transcript	TUBB8P7	HGNC	protein_coding	OTTHUMT00000420855.1	-	0.00	129	0	G			90161061	+1	tier1	-	no_errors	ENST00000563927	ensembl	human	known	74_37	rna	21.64	105	29	SNP	0.524	A
TUBGCP6	85378	genome.wustl.edu	37	22	50657243	50657244	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr22:50657243_50657244insA	ENST00000248846.5	-	21	4813_4814	c.4709_4710insT	c.(4708-4710)ctgfs	p.L1570fs	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1570					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGTCCCCATGCAGGCTGCACTG	0.649																																																	0																																										SO:0001589	frameshift_variant	0			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.4710dupT	22.37:g.50657244_50657244dupA	ENSP00000248846:p.Leu1570fs		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Frame_Shift_Ins	INS	pfam_TUBGCP	p.H1571fs	ENST00000248846.5	37	c.4710_4709	CCDS14087.1	22																																																																																			TUBGCP6	-	pfam_TUBGCP	ENSG00000128159		0.649	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	HGNC	protein_coding	OTTHUMT00000075004.3		0.00	49	0	-	NM_020461		50657244	-1	tier1		no_errors	ENST00000248846	ensembl	human	known	74_37	frame_shift_ins	15.38	11	2	INS	0.997:1.000	A
TXNDC5	81567	genome.wustl.edu	37	6	7899873	7899873	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:7899873T>C	ENST00000379757.4	-	3	492	c.455A>G	c.(454-456)cAg>cGg	p.Q152R	TXNDC5_ENST00000473453.1_Missense_Mutation_p.Q44R|TXNDC5_ENST00000539054.1_Missense_Mutation_p.Q80R|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	152	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					CCGAGGACCCTGGTACTTCAC	0.493																																					Ovarian(119;1430 1625 3928 26125 34589)												0													95.0	91.0	92.0					6																	7899873		2203	4300	6503	SO:0001583	missense	0			AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"""Protein disulfide isomerases"""	21073	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 15"""		"""thioredoxin domain containing 5"""				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.455A>G	6.37:g.7899873T>C	ENSP00000369081:p.Gln152Arg		B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase	p.Q152R	ENST00000379757.4	37	c.455	CCDS4505.1	6	.	.	.	.	.	.	.	.	.	.	.	12.86	2.064956	0.36470	.	.	ENSG00000239264	ENST00000539054;ENST00000379757;ENST00000473453	T;T;T	0.03330	3.97;3.97;3.97	5.5	5.5	0.81552	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.03520	0.0101	N	0.20328	0.56	0.80722	D	1	B;D	0.76494	0.043;0.999	B;D	0.85130	0.071;0.997	T	0.54516	-0.8282	10	0.07482	T	0.82	.	15.9091	0.79456	0.0:0.0:0.0:1.0	.	80;152	Q86UY0;Q8NBS9	.;TXND5_HUMAN	R	80;152;44	ENSP00000442453:Q80R;ENSP00000369081:Q152R;ENSP00000420784:Q44R	ENSP00000442453:Q80R	Q	-	2	0	TXNDC5	7844872	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.993000	0.70616	2.209000	0.71365	0.533000	0.62120	CAG	TXNDC5	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000239264		0.493	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC5	HGNC	protein_coding	OTTHUMT00000039792.1	-	0.00	68	0	T	NM_030810		7899873	-1	tier1	-	no_errors	ENST00000379757	ensembl	human	known	74_37	missense	6.94	67	5	SNP	1.000	C
UBE2V1	7335	genome.wustl.edu	37	20	48698320	48698320	+	3'UTR	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:48698320G>A	ENST00000371674.3	-	0	1473				UBE2V1_ENST00000415862.2_3'UTR|UBE2V1_ENST00000371657.5_3'UTR|TMEM189-UBE2V1_ENST00000341698.2_3'UTR|UBE2V1_ENST00000420027.2_3'UTR|UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000340309.3_3'UTR|UBE2V1_ENST00000371677.3_3'UTR|TMEM189_ENST00000557021.1_3'UTR	NM_001032288.2|NM_001257395.1	NP_001027459.1|NP_001244324.1	Q13404	UB2V1_HUMAN	ubiquitin-conjugating enzyme E2 variant 1						cell differentiation (GO:0030154)|error-free postreplication DNA repair (GO:0042275)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of DNA repair (GO:0006282)|regulation of transcription, DNA-templated (GO:0006355)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-UEV1A complex (GO:0035370)|ubiquitin conjugating enzyme complex (GO:0031371)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(4)	9			BRCA - Breast invasive adenocarcinoma(9;4.74e-06)			GACTCCGAGAGCTGGCAGGTC	0.458																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U39360	CCDS13426.1, CCDS13427.1, CCDS33483.1, CCDS58775.1, CCDS74740.1	20q13.2	2007-07-18			ENSG00000244687	ENSG00000244687		"""Ubiquitin-conjugating enzymes E2"""	12494	protein-coding gene	gene with protein product		602995		UBE2V		9418904, 9305758	Standard	NM_001032288		Approved	UEV-1, CROC-1, UEV1A, CROC1		Q13404	OTTHUMG00000152626	ENST00000371674.3:c.*985C>T	20.37:g.48698320G>A			E1P629|Q13403|Q13532|Q5TGE0|Q5TGE3|Q96H34|Q9GZT0|Q9GZW1|Q9H4J3|Q9H4J4|Q9UKL1|Q9UM48|Q9UM49|Q9UM50	RNA	SNP	-	NULL	ENST00000371674.3	37	NULL	CCDS33483.1	20																																																																																			UBE2V1	-	-	ENSG00000244687		0.458	UBE2V1-004	KNOWN	basic|CCDS	protein_coding	UBE2V1	HGNC	protein_coding	OTTHUMT00000080530.1	-	0.00	9	0	G	NM_021988		48698320	-1	tier1	-	no_errors	ENST00000396059	ensembl	human	known	74_37	rna	42.31	15	11	SNP	0.474	A
UBE3B	89910	genome.wustl.edu	37	12	109959339	109959339	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:109959339G>C	ENST00000342494.3	+	21	2942	c.2347G>C	c.(2347-2349)Ggg>Cgg	p.G783R	UBE3B_ENST00000434735.2_Missense_Mutation_p.G783R	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	783	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GAAGATGCTGGGGAAGGCTGT	0.463																																																	0													96.0	86.0	89.0					12																	109959339		2203	4300	6503	SO:0001583	missense	0			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.2347G>C	12.37:g.109959339G>C	ENSP00000340596:p.Gly783Arg		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.G783R	ENST00000342494.3	37	c.2347	CCDS9129.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.073706	0.94000	.	.	ENSG00000151148	ENST00000434735;ENST00000539599;ENST00000342494;ENST00000539584;ENST00000538070	T;T;T	0.60920	0.15;0.15;0.15	5.18	5.18	0.71444	HECT (4);	0.000000	0.85682	D	0.000000	D	0.86707	0.5997	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92209	0.5774	10	0.87932	D	0	-11.1155	17.86	0.88778	0.0:0.0:1.0:0.0	.	783	Q7Z3V4	UBE3B_HUMAN	R	783;783;783;210;78	ENSP00000391529:G783R;ENSP00000443131:G783R;ENSP00000340596:G783R	ENSP00000340596:G783R	G	+	1	0	UBE3B	108443722	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.172000	0.94808	2.684000	0.91462	0.655000	0.94253	GGG	UBE3B	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000151148		0.463	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3B	HGNC	protein_coding	OTTHUMT00000403119.1	-	0.00	60	0	G	NM_183415		109959339	+1	tier1	-	no_errors	ENST00000342494	ensembl	human	known	74_37	missense	7.29	89	7	SNP	1.000	C
UGT2B4	7363	genome.wustl.edu	37	4	70361097	70361097	+	Silent	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:70361097G>A	ENST00000305107.6	-	1	529	c.483C>T	c.(481-483)gcC>gcT	p.A161A	UGT2B4_ENST00000381096.3_Silent_p.A25A|UGT2B4_ENST00000512583.1_Silent_p.A161A|UGT2B4_ENST00000506580.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	161					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	TAAGTAACTCGGCCAGCAGCT	0.433																																																	0													50.0	51.0	51.0					4																	70361097		2172	4298	6470	SO:0001819	synonymous_variant	0			BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.483C>T	4.37:g.70361097G>A			A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.A161	ENST00000305107.6	37	c.483	CCDS43234.1	4																																																																																			UGT2B4	-	pfam_UDP_glucos_trans	ENSG00000156096		0.433	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B4	HGNC	protein_coding	OTTHUMT00000365526.1	-	0.00	65	0	G	NM_021139		70361097	-1	tier1	-	no_errors	ENST00000305107	ensembl	human	known	74_37	silent	34.21	25	13	SNP	0.181	A
UMODL1	89766	genome.wustl.edu	37	21	43524107	43524107	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr21:43524107C>T	ENST00000408910.2	+	9	1429	c.1429C>T	c.(1429-1431)Ccc>Tcc	p.P477S	UMODL1_ENST00000408989.2_Missense_Mutation_p.P477S|C21orf128_ENST00000329015.2_Silent_p.G42G|UMODL1_ENST00000400427.1_Missense_Mutation_p.P405S|UMODL1_ENST00000400424.2_Missense_Mutation_p.P405S	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	477	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCCCGGGTTTCCCATGGGCAT	0.607																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)												0													126.0	123.0	124.0					21																	43524107		2203	4300	6503	SO:0001583	missense	0				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1429C>T	21.37:g.43524107C>T	ENSP00000386147:p.Pro477Ser		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom	p.P477S	ENST00000408910.2	37	c.1429	CCDS42936.1	21	.	.	.	.	.	.	.	.	.	.	C	9.627	1.135482	0.21123	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	3.49	1.62	0.23740	SEA (1);	0.301359	0.23243	N	0.050323	T	0.34600	0.0903	L	0.41824	1.3	0.09310	N	0.999996	P;P;B	0.48764	0.915;0.754;0.234	P;P;B	0.51193	0.662;0.621;0.3	T	0.09930	-1.0652	10	0.38643	T	0.18	-4.4818	7.716	0.28704	0.0:0.786:0.0:0.214	.	405;477;477	Q5DID0-3;Q5DID0-2;Q5DID0	.;.;UROL1_HUMAN	S	405;405;477;477	ENSP00000383279:P405S;ENSP00000383276:P405S;ENSP00000386126:P477S;ENSP00000386147:P477S	ENSP00000383276:P405S	P	+	1	0	UMODL1	42397176	0.057000	0.20700	0.001000	0.08648	0.006000	0.05464	1.483000	0.35497	0.442000	0.26555	0.655000	0.94253	CCC	UMODL1	-	pfam_SEA_dom	ENSG00000177398		0.607	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UMODL1	HGNC	protein_coding	OTTHUMT00000195292.2	-	0.00	37	0	C			43524107	+1	tier1	-	no_errors	ENST00000408989	ensembl	human	known	74_37	missense	16.67	15	3	SNP	0.005	T
UNC13C	440279	genome.wustl.edu	37	15	54685372	54685372	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:54685372C>A	ENST00000260323.11	+	17	4840	c.4840C>A	c.(4840-4842)Ctg>Atg	p.L1614M	UNC13C_ENST00000537900.1_Missense_Mutation_p.L1612M|UNC13C_ENST00000545554.1_Missense_Mutation_p.L1614M	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1614					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CACACCTGTCCTGAATCAGTA	0.343																																																	0													70.0	66.0	68.0					15																	54685372		1823	4073	5896	SO:0001583	missense	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4840C>A	15.37:g.54685372C>A	ENSP00000260323:p.Leu1614Met		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.L1614M	ENST00000260323.11	37	c.4840	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879085	0.51801	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.82255	-1.58;-1.59;-1.58	5.4	2.52	0.30459	Calcium-dependent secretion activator (1);	0.354249	0.27375	N	0.019651	D	0.88078	0.6340	M	0.75615	2.305	0.33909	D	0.639504	D;D	0.71674	0.998;0.997	D;D	0.76575	0.988;0.939	D	0.88690	0.3208	10	0.66056	D	0.02	.	6.3823	0.21542	0.0:0.5815:0.0:0.4185	.	1614;1614	F5H090;Q8NB66	.;UN13C_HUMAN	M	1614;1614;1612	ENSP00000260323:L1614M;ENSP00000438156:L1614M;ENSP00000442569:L1612M	ENSP00000260323:L1614M	L	+	1	2	UNC13C	52472664	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	1.470000	0.35354	0.677000	0.31305	-0.145000	0.13849	CTG	UNC13C	-	pfam_Ca-dep_secretion_activator	ENSG00000137766		0.343	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0.00	53	0	C	NM_173166		54685372	+1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	missense	22.00	39	11	SNP	1.000	A
UNC5A	90249	genome.wustl.edu	37	5	176295959	176295959	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:176295959G>A	ENST00000329542.4	+	5	989	c.715G>A	c.(715-717)Gtc>Atc	p.V239I	UNC5A_ENST00000261961.3_Missense_Mutation_p.V199I	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	239					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCTGTCATCGTCTACGGTGG	0.677																																																	0													38.0	33.0	35.0					5																	176295959		2199	4296	6495	SO:0001583	missense	0			AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.715G>A	5.37:g.176295959G>A	ENSP00000332737:p.Val239Ile		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.V239I	ENST00000329542.4	37	c.715	CCDS34299.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.390720|4.390720	0.82902|0.82902	.|.	.|.	ENSG00000113763|ENSG00000113763	ENST00000509580|ENST00000329542;ENST00000261961	.|T;T	.|0.60299	.|0.2;0.2	4.52|4.52	3.63|3.63	0.41609|0.41609	.|Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.|0.078901	.|0.50627	.|D	.|0.000107	T|T	0.72028|0.72028	0.3410|0.3410	M|M	0.64676|0.64676	1.99|1.99	0.54753|0.54753	D|D	0.999988|0.999988	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.994	T|T	0.74284|0.74284	-0.3715|-0.3715	5|10	.|0.66056	.|D	.|0.02	-38.834|-38.834	13.685|13.685	0.62511|0.62511	0.0:0.0:0.8443:0.1557|0.0:0.0:0.8443:0.1557	.|.	.|199;239;239	.|Q6ZN44-3;Q6ZN44;Q6ZN44-2	.|.;UNC5A_HUMAN;.	H|I	204|239;199	.|ENSP00000332737:V239I;ENSP00000261961:V199I	.|ENSP00000261961:V199I	R|V	+|+	2|1	0|0	UNC5A|UNC5A	176228565|176228565	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.753000|0.753000	0.42808|0.42808	9.869000|9.869000	0.99810|0.99810	0.870000|0.870000	0.35726|0.35726	0.561000|0.561000	0.74099|0.74099	CGT|GTC	UNC5A	-	superfamily_Thrombospondin_1_rpt,smart_Ig_sub	ENSG00000113763		0.677	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5A	HGNC	protein_coding	OTTHUMT00000372166.1	-	0.00	29	0	G	XM_030300		176295959	+1	tier1	-	no_errors	ENST00000329542	ensembl	human	known	74_37	missense	41.38	17	12	SNP	1.000	A
USP4	7375	genome.wustl.edu	37	3	49331951	49331951	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:49331951G>T	ENST00000265560.4	-	14	1818	c.1772C>A	c.(1771-1773)cCa>cAa	p.P591Q	USP4_ENST00000351842.4_Missense_Mutation_p.P544Q	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	591	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		AGTGCTTGATGGCCTGGACTT	0.527																																																	0													159.0	126.0	137.0					3																	49331951		2203	4300	6503	SO:0001583	missense	0			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.1772C>A	3.37:g.49331951G>T	ENSP00000265560:p.Pro591Gln		A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67	p.P591Q	ENST00000265560.4	37	c.1772	CCDS2793.1	3	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485493	0.26686	.	.	ENSG00000114316	ENST00000351842;ENST00000265560	T;T	0.20332	2.08;2.21	5.73	4.78	0.61160	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.310592	0.39985	N	0.001208	T	0.04770	0.0129	N	0.00289	-1.7	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.09377	0.002;0.004;0.004	T	0.39057	-0.9632	10	0.11794	T	0.64	-7.5739	10.9148	0.47129	0.0:0.0:0.6551:0.3449	.	544;591;591	Q13107-2;Q13107;Q08AK7	.;UBP4_HUMAN;.	Q	544;591	ENSP00000341028:P544Q;ENSP00000265560:P591Q	ENSP00000265560:P591Q	P	-	2	0	USP4	49306955	1.000000	0.71417	0.842000	0.33263	0.752000	0.42762	3.542000	0.53625	2.710000	0.92621	0.650000	0.86243	CCA	USP4	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000114316		0.527	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP4	HGNC	protein_coding	OTTHUMT00000346069.1	-	0.00	61	0	G	NM_199443		49331951	-1	tier1	-	no_errors	ENST00000265560	ensembl	human	known	74_37	missense	26.23	45	16	SNP	0.958	T
VAT1L	57687	genome.wustl.edu	37	16	78005824	78005824	+	Silent	SNP	T	T	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:78005824T>A	ENST00000302536.2	+	8	1308	c.1155T>A	c.(1153-1155)acT>acA	p.T385T		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	385							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						AGACCCCAACTCCACTGGTGA	0.527											OREG0023950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													158.0	161.0	160.0					16																	78005824		2198	4300	6498	SO:0001819	synonymous_variant	0			AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.1155T>A	16.37:g.78005824T>A		1180	Q8IYW8	Silent	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.T385	ENST00000302536.2	37	c.1155	CCDS32492.1	16																																																																																			VAT1L	-	NULL	ENSG00000171724		0.527	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAT1L	HGNC	protein_coding	OTTHUMT00000434010.1	-	0.00	29	0	T	NM_020927		78005824	+1	tier1	-	no_errors	ENST00000302536	ensembl	human	known	74_37	silent	22.22	14	4	SNP	0.997	A
VCL	7414	genome.wustl.edu	37	10	75867026	75867026	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:75867026C>T	ENST00000211998.4	+	17	2567	c.2473C>T	c.(2473-2475)Ctg>Ttg	p.L825L	VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Silent_p.L825L	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	825	N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					ATATCGGATCCTGGGAGCTGT	0.542																																																	0													102.0	82.0	88.0					10																	75867026		2203	4300	6503	SO:0001819	synonymous_variant	0			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.2473C>T	10.37:g.75867026C>T			Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Silent	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin	p.L825	ENST00000211998.4	37	c.2473	CCDS7341.1	10																																																																																			VCL	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000035403		0.542	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	VCL	HGNC	protein_coding		-	0.00	55	0	C	NM_003373, NM_014000		75867026	+1	tier1	-	no_errors	ENST00000211998	ensembl	human	known	74_37	silent	25.64	29	10	SNP	1.000	T
VEGFC	7424	genome.wustl.edu	37	4	177608398	177608398	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:177608398G>T	ENST00000280193.2	-	6	1503	c.1088C>A	c.(1087-1089)aCa>aAa	p.T363K	VEGFC_ENST00000507638.1_5'Flank|RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	363					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TGGACTTTCTGTACATTCACA	0.388																																																	0													257.0	232.0	240.0					4																	177608398		1851	4096	5947	SO:0001583	missense	0			BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.1088C>A	4.37:g.177608398G>T	ENSP00000280193:p.Thr363Lys		B2R9Q8	Missense_Mutation	SNP	pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	p.T363K	ENST00000280193.2	37	c.1088	CCDS43285.1	4	.	.	.	.	.	.	.	.	.	.	G	9.739	1.164238	0.21538	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.62	5.62	0.85841	.	0.123969	0.56097	D	0.000028	T	0.53238	0.1784	L	0.55481	1.735	0.46631	D	0.999135	P	0.38922	0.651	B	0.40901	0.343	T	0.50499	-0.8821	9	0.29301	T	0.29	-17.5201	10.717	0.46019	0.115:0.0:0.885:0.0	.	363	P49767	VEGFC_HUMAN	K	363	.	ENSP00000280193:T363K	T	-	2	0	VEGFC	177845392	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.850000	0.55918	2.633000	0.89246	0.655000	0.94253	ACA	VEGFC	-	NULL	ENSG00000150630		0.388	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEGFC	HGNC	protein_coding	OTTHUMT00000361991.1	-	0.00	95	0	G	NM_005429		177608398	-1	tier1	-	no_errors	ENST00000280193	ensembl	human	known	74_37	missense	21.88	50	14	SNP	1.000	T
VPS18	57617	genome.wustl.edu	37	15	41195145	41195145	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:41195145G>A	ENST00000220509.5	+	5	2867	c.2528G>A	c.(2527-2529)cGc>cAc	p.R843H		NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	843					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CTGCGGGGCCGCTACGGCACT	0.617																																																	0													95.0	93.0	94.0					15																	41195145		2203	4300	6503	SO:0001583	missense	0			AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.2528G>A	15.37:g.41195145G>A	ENSP00000220509:p.Arg843His		Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold	p.R843H	ENST00000220509.5	37	c.2528	CCDS10069.1	15	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861999	0.91433	.	.	ENSG00000104142	ENST00000220509	T	0.54675	0.56	5.76	5.76	0.90799	.	0.168429	0.51477	D	0.000085	T	0.44871	0.1314	L	0.49126	1.545	0.80722	D	1	D	0.55172	0.97	B	0.42625	0.393	T	0.44757	-0.9307	10	0.44086	T	0.13	-32.8836	7.5399	0.27731	0.1954:0.0:0.8046:0.0	.	843	Q9P253	VPS18_HUMAN	H	843	ENSP00000220509:R843H	ENSP00000220509:R843H	R	+	2	0	VPS18	38982437	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.595000	0.82710	2.724000	0.93272	0.561000	0.74099	CGC	VPS18	-	NULL	ENSG00000104142		0.617	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS18	HGNC	protein_coding	OTTHUMT00000252443.2	-	0.00	60	0	G			41195145	+1	tier1	-	no_errors	ENST00000220509	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	A
VSIG10L	147645	genome.wustl.edu	37	19	51845039	51845039	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:51845039T>C	ENST00000335624.4	-	2	262	c.263A>G	c.(262-264)aAc>aGc	p.N88S	CTD-2616J11.16_ENST00000594311.1_RNA|CTD-2616J11.16_ENST00000601148.1_RNA	NM_001163922.1	NP_001157394.1	Q86VR7	VS10L_HUMAN	V-set and immunoglobulin domain containing 10 like	88	Ser-rich.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)	4						CCCAGACATGTTGGAACTCAG	0.498																																																	0													54.0	56.0	56.0					19																	51845039		692	1591	2283	SO:0001583	missense	0				CCDS54300.1	19q13.41	2013-01-11				ENSG00000186806		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27111	protein-coding gene	gene with protein product						12477932	Standard	NM_001163922		Approved		uc002pwf.3	Q86VR7		ENST00000335624.4:c.263A>G	19.37:g.51845039T>C	ENSP00000335623:p.Asn88Ser			Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.N88S	ENST00000335624.4	37	c.263	CCDS54300.1	19	.	.	.	.	.	.	.	.	.	.	T	7.954	0.745491	0.15710	.	.	ENSG00000186806	ENST00000335624	T	0.26810	1.71	2.81	-0.721	0.11189	.	.	.	.	.	T	0.10380	0.0254	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.12837	0.008	T	0.28170	-1.0052	9	0.34782	T	0.22	.	2.9909	0.05982	0.0:0.2818:0.235:0.4832	.	88	Q86VR7	VS10L_HUMAN	S	88	ENSP00000335623:N88S	ENSP00000335623:N88S	N	-	2	0	VSIG10L	56536851	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-1.139000	0.03213	-0.241000	0.09681	0.383000	0.25322	AAC	VSIG10L	-	NULL	ENSG00000186806		0.498	VSIG10L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	VSIG10L	HGNC	protein_coding	OTTHUMT00000464535.1	-	0.00	65	0	T	NM_001163922		51845039	-1	tier1	-	no_errors	ENST00000335624	ensembl	human	novel	74_37	missense	8.70	42	4	SNP	0.000	C
VWA5B2	90113	genome.wustl.edu	37	3	183952435	183952435	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:183952435C>T	ENST00000426955.2	+	6	937	c.837C>T	c.(835-837)caC>caT	p.H279H	VWA5B2_ENST00000273794.5_Silent_p.H60H|EIF2B5_ENST00000444495.1_Intron	NM_138345.1	NP_612354.1	Q8N398	VW5B2_HUMAN	von Willebrand factor A domain containing 5B2	290										breast(3)|endometrium(4)|kidney(1)|lung(1)|prostate(1)|skin(5)	15						ATCAGCCACACCTGATGCTGG	0.612																																																	0													14.0	17.0	16.0					3																	183952435		691	1590	2281	SO:0001819	synonymous_variant	0				CCDS54686.1	3q27.1	2008-07-25	2008-07-25		ENSG00000145198	ENSG00000145198			25144	protein-coding gene	gene with protein product						15231747	Standard	NM_138345		Approved	DKFZp761K032, LOC90113	uc011bra.2	Q8N398	OTTHUMG00000156820	ENST00000426955.2:c.837C>T	3.37:g.183952435C>T			B9EGN7	Silent	SNP	NULL	p.H279	ENST00000426955.2	37	c.837	CCDS54686.1	3																																																																																			VWA5B2	-	NULL	ENSG00000145198		0.612	VWA5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA5B2	HGNC	protein_coding	OTTHUMT00000346004.2	-	0.00	25	0	C	XM_291077		183952435	+1	tier1	-	no_errors	ENST00000426955	ensembl	human	known	74_37	silent	32.00	17	8	SNP	1.000	T
WDR36	134430	genome.wustl.edu	37	5	110459844	110459844	+	Silent	SNP	A	A	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:110459844A>C	ENST00000513710.2	+	21	2479	c.2475A>C	c.(2473-2475)tcA>tcC	p.S825S	WDR36_ENST00000506538.2_Silent_p.S825S			Q8NI36	WDR36_HUMAN	WD repeat domain 36	825					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CTCAAAAATCAGATTTCTGCT	0.254																																																	0													70.0	77.0	74.0					5																	110459844		2200	4290	6490	SO:0001819	synonymous_variant	0			AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.2475A>C	5.37:g.110459844A>C			A2RUS4|Q68E02|Q8N1Q2	Silent	SNP	pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S825	ENST00000513710.2	37	c.2475	CCDS4102.1	5																																																																																			WDR36	-	pfam_SSU_processome_Utp21	ENSG00000134987		0.254	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	WDR36	HGNC	protein_coding	OTTHUMT00000373504.3	-	0.00	76	0	A	NM_139281		110459844	+1	tier1	-	no_errors	ENST00000506538	ensembl	human	known	74_37	silent	17.28	67	14	SNP	1.000	C
WDR4	10785	genome.wustl.edu	37	21	44283655	44283655	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr21:44283655C>T	ENST00000398208.2	-	4	407	c.348G>A	c.(346-348)aaG>aaA	p.K116K	WDR4_ENST00000330317.2_Silent_p.K116K|WDR4_ENST00000492742.1_5'UTR	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4											haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CCACCAAGACCTTCTCCTCCG	0.587																																																	0													131.0	113.0	119.0					21																	44283655		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"""WD repeat domain containing"""	12756	protein-coding gene	gene with protein product	"""TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"""	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.348G>A	21.37:g.44283655C>T				Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K116	ENST00000398208.2	37	c.348	CCDS13691.1	21																																																																																			WDR4	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000160193		0.587	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR4	HGNC	protein_coding	OTTHUMT00000195479.1	-	0.00	41	0	C			44283655	-1	tier1	-	no_errors	ENST00000330317	ensembl	human	known	74_37	silent	23.26	33	10	SNP	0.997	T
WHSC1	7468	genome.wustl.edu	37	4	1932412	1932412	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:1932412G>T	ENST00000382895.3	+	8	1901	c.1470G>T	c.(1468-1470)caG>caT	p.Q490H	WHSC1_ENST00000382891.5_Missense_Mutation_p.Q490H|WHSC1_ENST00000508803.1_Missense_Mutation_p.Q490H|WHSC1_ENST00000382892.2_Missense_Mutation_p.Q490H|WHSC1_ENST00000503128.1_Missense_Mutation_p.Q490H|WHSC1_ENST00000420906.2_Missense_Mutation_p.Q490H|WHSC1_ENST00000514045.1_Missense_Mutation_p.Q490H|WHSC1_ENST00000398261.1_Missense_Mutation_p.Q490H	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	490					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TCAGGTCACAGTGGAGTCTGC	0.522			T	IGH@	MM																																			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0													111.0	100.0	104.0					4																	1932412		2203	4300	6503	SO:0001583	missense	0			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.1470G>T	4.37:g.1932412G>T	ENSP00000372351:p.Gln490His		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom	p.Q490H	ENST00000382895.3	37	c.1470	CCDS33940.1	4	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381548	0.61845	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000398261	D;D;D;D;D;D;D;D	0.98012	-3.62;-4.66;-3.62;-3.62;-4.66;-3.62;-4.66;-4.66	5.85	4.13	0.48395	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.56097	D	0.000037	D	0.98327	0.9445	M	0.74647	2.275	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.87578	0.998;0.961;0.998	D	0.98100	1.0414	10	0.51188	T	0.08	.	12.8218	0.57698	0.1332:0.0:0.8668:0.0	.	490;490;490	O96028-3;O96028;O96028-5	.;NSD2_HUMAN;.	H	490	ENSP00000423972:Q490H;ENSP00000421681:Q490H;ENSP00000372347:Q490H;ENSP00000372348:Q490H;ENSP00000399251:Q490H;ENSP00000372351:Q490H;ENSP00000425761:Q490H;ENSP00000381311:Q490H	ENSP00000308780:Q490H	Q	+	3	2	WHSC1	1902210	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	3.150000	0.50662	0.816000	0.34421	0.555000	0.69702	CAG	WHSC1	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000109685		0.522	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	HGNC	protein_coding	OTTHUMT00000366269.2	-	0.00	74	0	G	NM_133330		1932412	+1	tier1	-	no_errors	ENST00000382891	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T
WRNIP1	56897	genome.wustl.edu	37	6	2784625	2784625	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:2784625G>A	ENST00000380773.4	+	6	1919	c.1710G>A	c.(1708-1710)atG>atA	p.M570I	WRNIP1_ENST00000380771.4_Missense_Mutation_p.M545I|WRNIP1_ENST00000380764.1_Missense_Mutation_p.M186I|WRNIP1_ENST00000380769.4_Missense_Mutation_p.M350I	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TTATAGGCATGCCTGAATGTG	0.458																																																	0													109.0	89.0	95.0					6																	2784625		2203	4300	6503	SO:0001583	missense	0			AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"""ATPases / AAA-type"""	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1710G>A	6.37:g.2784625G>A	ENSP00000370150:p.Met570Ile			Missense_Mutation	SNP	pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_Znf_Rad18_put,smart_AAA+_ATPase	p.M570I	ENST00000380773.4	37	c.1710	CCDS4475.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.198599	0.94997	.	.	ENSG00000124535	ENST00000380773;ENST00000380771;ENST00000380769;ENST00000380764	T;T;T	0.51574	0.7;0.76;0.8	5.57	5.57	0.84162	MgsA AAA+ ATPase C-terminal (1);	0.070711	0.85682	D	0.000000	T	0.69691	0.3139	M	0.92268	3.29	0.80722	D	1	D;D	0.56287	0.973;0.975	P;P	0.60541	0.73;0.876	T	0.75107	-0.3434	10	0.48119	T	0.1	-8.4412	18.5466	0.91048	0.0:0.0:1.0:0.0	.	545;570	Q96S55-2;Q96S55	.;WRIP1_HUMAN	I	570;545;350;186	ENSP00000370150:M570I;ENSP00000370148:M545I;ENSP00000370146:M350I	ENSP00000370141:M186I	M	+	3	0	WRNIP1	2729624	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.252000	0.95491	2.610000	0.88304	0.563000	0.77884	ATG	WRNIP1	-	pfam_MgsA_C	ENSG00000124535		0.458	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRNIP1	HGNC	protein_coding	OTTHUMT00000039641.1	-	0.00	49	0	G	NM_130395		2784625	+1	tier1	-	no_errors	ENST00000380773	ensembl	human	known	74_37	missense	54.90	23	28	SNP	1.000	A
XPNPEP1	7511	genome.wustl.edu	37	10	111643831	111643831	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:111643831G>A	ENST00000502935.1	-	9	943	c.824C>T	c.(823-825)aCg>aTg	p.T275M	XPNPEP1_ENST00000369680.4_Missense_Mutation_p.T232M|XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.T161M|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.T275M					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TCACATGATCGTCTCTAGTCC	0.488											OREG0020527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													186.0	185.0	186.0					10																	111643831		2203	4300	6503	SO:0001583	missense	0				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.824C>T	10.37:g.111643831G>A	ENSP00000421566:p.Thr275Met	1436		Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.T275M	ENST00000502935.1	37	c.824	CCDS7560.2	10	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973164	0.74246	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680;ENST00000403138;ENST00000423625	.	.	.	5.31	4.4	0.53042	.	0.218311	0.47093	D	0.000245	T	0.73241	0.3562	M	0.78456	2.415	0.38540	D	0.949191	D;D;D	0.67145	0.996;0.996;0.993	P;P;P	0.54140	0.599;0.743;0.488	T	0.79754	-0.1670	9	0.59425	D	0.04	-6.4753	14.8437	0.70243	0.0:0.1431:0.8569:0.0	.	275;275;232	B4E2P4;G5E9Y2;Q9NQW7	.;.;XPP1_HUMAN	M	275;161;275;232;232;200	.	ENSP00000324011:T275M	T	-	2	0	XPNPEP1	111633821	0.995000	0.38212	0.932000	0.37286	0.961000	0.63080	2.374000	0.44274	1.352000	0.45808	0.655000	0.94253	ACG	XPNPEP1	-	NULL	ENSG00000108039		0.488	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	XPNPEP1	HGNC	protein_coding	OTTHUMT00000050264.2	-	0.00	52	0	G			111643831	-1	tier1	-	no_errors	ENST00000502935	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.973	A
XRN2	22803	genome.wustl.edu	37	20	21367540	21367540	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:21367540C>T	ENST00000377191.3	+	29	2778	c.2683C>T	c.(2683-2685)Cgg>Tgg	p.R895W	XRN2_ENST00000539513.1_Missense_Mutation_p.R841W|XRN2_ENST00000430571.2_Missense_Mutation_p.R819W	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	895					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CCCATGGAACCGGATGCTGCA	0.532																																																	0													118.0	116.0	117.0					20																	21367540		2203	4300	6503	SO:0001583	missense	0			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.2683C>T	20.37:g.21367540C>T	ENSP00000366396:p.Arg895Trp		Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2	p.R895W	ENST00000377191.3	37	c.2683	CCDS13144.1	20	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982240	0.74474	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.33438	1.42;1.42;1.41	6.17	4.18	0.49190	.	0.125415	0.51477	D	0.000091	T	0.41465	0.1160	L	0.27053	0.805	0.45452	D	0.998424	D	0.89917	1.0	D	0.71414	0.973	T	0.34104	-0.9842	10	0.66056	D	0.02	-15.5136	14.1117	0.65126	0.274:0.726:0.0:0.0	.	895	Q9H0D6	XRN2_HUMAN	W	895;819;841	ENSP00000366396:R895W;ENSP00000413548:R819W;ENSP00000441113:R841W	ENSP00000366396:R895W	R	+	1	2	XRN2	21315540	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	3.830000	0.55768	0.873000	0.35799	-0.181000	0.13052	CGG	XRN2	-	pirsf_5_3_exoribonuclease_2	ENSG00000088930		0.532	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRN2	HGNC	protein_coding	OTTHUMT00000078273.2		0.00	50	0	C	NM_012255		21367540	+1			no_errors	ENST00000377191	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	T
ZC3H6	376940	genome.wustl.edu	37	2	113089797	113089797	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:113089797C>A	ENST00000409871.1	+	12	3703	c.3302C>A	c.(3301-3303)cCa>cAa	p.P1101Q	ZC3H6_ENST00000343936.4_Missense_Mutation_p.P1101Q|AC115115.2_ENST00000607612.1_RNA	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1101							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AAACCCAGTCCAAACGTGGGA	0.507																																																	0													44.0	45.0	45.0					2																	113089797		1912	4138	6050	SO:0001583	missense	0			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.3302C>A	2.37:g.113089797C>A	ENSP00000386764:p.Pro1101Gln		A9JR71|Q6ZW96	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.P1101Q	ENST00000409871.1	37	c.3302	CCDS46393.1	2	.	.	.	.	.	.	.	.	.	.	C	0.123	-1.122840	0.01785	.	.	ENSG00000188177	ENST00000409871;ENST00000343936	T;T	0.14266	2.52;2.52	5.43	4.55	0.56014	.	1.057020	0.07313	N	0.876272	T	0.16557	0.0398	L	0.43152	1.355	0.09310	N	1	P	0.37864	0.61	B	0.35607	0.206	T	0.31081	-0.9956	10	0.54805	T	0.06	-0.4332	14.021	0.64555	0.0:0.9269:0.0:0.0731	.	1101	P61129	ZC3H6_HUMAN	Q	1101	ENSP00000386764:P1101Q;ENSP00000340298:P1101Q	ENSP00000340298:P1101Q	P	+	2	0	ZC3H6	112806268	0.000000	0.05858	0.002000	0.10522	0.079000	0.17450	0.929000	0.28844	1.258000	0.44101	0.655000	0.94253	CCA	ZC3H6	-	NULL	ENSG00000188177		0.507	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H6	HGNC	protein_coding	OTTHUMT00000330551.1	-	0.00	34	0	C	NM_198581		113089797	+1	tier1	-	no_errors	ENST00000343936	ensembl	human	known	74_37	missense	36.00	16	9	SNP	0.017	A
ZCCHC14	23174	genome.wustl.edu	37	16	87445479	87445479	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:87445479G>A	ENST00000268616.4	-	12	2654	c.2437C>T	c.(2437-2439)Ccg>Tcg	p.P813S		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	813							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CCGGAGAACGGGTGCTGGAAG	0.662																																																	0													18.0	17.0	17.0					16																	87445479		2193	4298	6491	SO:0001583	missense	0			AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.2437C>T	16.37:g.87445479G>A	ENSP00000268616:p.Pro813Ser		D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Znf_CCHC,superfamily_Phox,superfamily_SAM/pointed,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.P813S	ENST00000268616.4	37	c.2437	CCDS10961.1	16	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376822	0.61735	.	.	ENSG00000140948	ENST00000268616	T	0.30714	1.52	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.46541	0.1398	L	0.32530	0.975	0.45403	D	0.998382	D;D	0.76494	0.999;0.998	D;P	0.66351	0.943;0.878	T	0.41752	-0.9491	10	0.72032	D	0.01	-27.6598	19.694	0.96016	0.0:0.0:1.0:0.0	.	813;813	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	S	813	ENSP00000268616:P813S	ENSP00000268616:P813S	P	-	1	0	ZCCHC14	86002980	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.881000	0.75584	2.649000	0.89929	0.643000	0.83706	CCG	ZCCHC14	-	NULL	ENSG00000140948		0.662	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC14	HGNC	protein_coding	OTTHUMT00000269107.1	-	0.00	170	0	G	NM_015144		87445479	-1	tier1	-	no_errors	ENST00000268616	ensembl	human	known	74_37	missense	22.54	110	32	SNP	1.000	A
ZCCHC24	219654	genome.wustl.edu	37	10	81154069	81154069	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:81154069C>T	ENST00000372336.3	-	3	761	c.575G>A	c.(574-576)tGc>tAc	p.C192Y	RP11-342M3.5_ENST00000438554.2_RNA|ZCCHC24_ENST00000372333.3_Silent_p.V132V	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	192							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						GCACTTGATGCACTCCTGCCC	0.582																																																	0													183.0	142.0	156.0					10																	81154069		2203	4300	6503	SO:0001583	missense	0			AK075279	CCDS7359.1	10q22.3	2014-02-20	2008-06-23	2008-06-23	ENSG00000165424	ENSG00000165424		"""Zinc fingers, CCHC domain containing"""	26911	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 8"""		"""chromosome 10 open reading frame 56"""	C10orf56		12477932	Standard	NM_153367		Approved	FLJ90798, Z3CXXC8	uc010qlr.2	Q8N2G6	OTTHUMG00000018561	ENST00000372336.3:c.575G>A	10.37:g.81154069C>T	ENSP00000361411:p.Cys192Tyr		Q5U5T9|Q8TAG0	Missense_Mutation	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.C192Y	ENST00000372336.3	37	c.575	CCDS7359.1	10	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812407	0.90707	.	.	ENSG00000165424	ENST00000372336	T	0.73363	-0.74	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.87006	0.6070	M	0.80183	2.485	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.88940	0.3379	10	0.87932	D	0	-18.4514	18.0121	0.89227	0.0:1.0:0.0:0.0	.	192	Q8N2G6	ZCH24_HUMAN	Y	192	ENSP00000361411:C192Y	ENSP00000361411:C192Y	C	-	2	0	ZCCHC24	80824075	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.307000	0.78920	2.479000	0.83701	0.514000	0.50259	TGC	ZCCHC24	-	NULL	ENSG00000165424		0.582	ZCCHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC24	HGNC	protein_coding	OTTHUMT00000048947.1	-	0.00	44	0	C	NM_153367		81154069	-1	tier1	-	no_errors	ENST00000372336	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	T
ZFAND3	60685	genome.wustl.edu	37	6	38029503	38029503	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:38029503C>T	ENST00000287218.4	+	3	694	c.247C>T	c.(247-249)Cag>Tag	p.Q83*	ZFAND3_ENST00000373391.2_Nonsense_Mutation_p.Q83*	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	83							DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						TCCCAGCCAGCAGCCGCTTCC	0.473																																																	0													79.0	70.0	73.0					6																	38029503		2203	4300	6503	SO:0001587	stop_gained	0			AK023284	CCDS4836.1	6p21.2	2013-09-19	2005-12-15	2005-12-15	ENSG00000156639	ENSG00000156639		"""Zinc fingers, AN1-type domain containing"""	18019	protein-coding gene	gene with protein product		607455	"""testis expressed sequence 27"""	TEX27			Standard	NM_021943		Approved	FLJ13222	uc003onx.3	Q9H8U3	OTTHUMG00000014629	ENST00000287218.4:c.247C>T	6.37:g.38029503C>T	ENSP00000287218:p.Gln83*		Q5SZZ0|Q5SZZ1	Nonsense_Mutation	SNP	pfam_Znf_AN1,pfam_Znf_A20,smart_Znf_A20,smart_Znf_AN1,pfscan_Znf_A20,pfscan_Znf_AN1	p.Q83*	ENST00000287218.4	37	c.247	CCDS4836.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.388994|5.388994	0.95988|0.95988	.|.	.|.	ENSG00000156639|ENSG00000156639	ENST00000373389|ENST00000287218;ENST00000373391;ENST00000474522	.|.	.|.	.|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.432577	.|0.27567	.|N	.|0.018781	T|.	0.35098|.	0.0920|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30909|.	-0.9962|.	3|.	.|0.06099	.|T	.|0.92	-7.9907|-7.9907	19.6167|19.6167	0.95636|0.95636	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	59|83;83;114	.|.	.|ENSP00000287218:Q83X	A|Q	+|+	2|1	0|0	ZFAND3|ZFAND3	38137481|38137481	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.317000|5.317000	0.65822|0.65822	2.708000|2.708000	0.92522|0.92522	0.467000|0.467000	0.42956|0.42956	GCA|CAG	ZFAND3	-	NULL	ENSG00000156639		0.473	ZFAND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND3	HGNC	protein_coding	OTTHUMT00000040424.3		0.00	51	0	C	NM_021943		38029503	+1			no_errors	ENST00000287218	ensembl	human	known	74_37	nonsense	5.26	72	4	SNP	1.000	T
ZFP42	132625	genome.wustl.edu	37	4	188924613	188924613	+	Missense_Mutation	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:188924613G>A	ENST00000326866.4	+	4	1060	c.652G>A	c.(652-654)Gtc>Atc	p.V218I	ZFP42_ENST00000509524.1_Missense_Mutation_p.V218I	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	218					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CCGAGACCACGTCTGTGCGGA	0.502																																																	0													121.0	125.0	124.0					4																	188924613		2203	4300	6503	SO:0001583	missense	0			AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.652G>A	4.37:g.188924613G>A	ENSP00000317686:p.Val218Ile		D3DP65|Q8WXE2	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V218I	ENST00000326866.4	37	c.652	CCDS3849.1	4	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690703	0.29962	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.35973	1.28;1.28	4.39	1.73	0.24493	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.072938	0.53938	N	0.000047	T	0.16257	0.0391	N	0.04669	-0.19	0.27171	N	0.960902	B	0.21147	0.052	B	0.12837	0.008	T	0.15607	-1.0431	10	0.33141	T	0.24	.	10.7908	0.46432	0.2467:0.0:0.7533:0.0	.	218	Q96MM3	ZFP42_HUMAN	I	218	ENSP00000317686:V218I;ENSP00000424662:V218I	ENSP00000317686:V218I	V	+	1	0	ZFP42	189161607	1.000000	0.71417	0.004000	0.12327	0.009000	0.06853	6.369000	0.73109	0.106000	0.17784	-0.797000	0.03246	GTC	ZFP42	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000179059		0.502	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP42	HGNC	protein_coding	OTTHUMT00000359794.1	-	0.00	24	0	G	NM_174900		188924613	+1	tier1	-	no_errors	ENST00000326866	ensembl	human	known	74_37	missense	26.67	11	4	SNP	0.900	A
ZFPM2	23414	genome.wustl.edu	37	8	106814592	106814592	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:106814592T>C	ENST00000407775.2	+	8	2532	c.2282T>C	c.(2281-2283)cTt>cCt	p.L761P	ZFPM2_ENST00000378472.4_Missense_Mutation_p.L492P|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.L629P|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.L629P|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	761					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAGAGATTTCTTGACGTAGCC	0.498																																																	0													54.0	55.0	54.0					8																	106814592		2003	4174	6177	SO:0001583	missense	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2282T>C	8.37:g.106814592T>C	ENSP00000384179:p.Leu761Pro		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L761P	ENST00000407775.2	37	c.2282	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	T	13.84	2.358084	0.41801	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.33865	1.39;1.9;1.9;3.1	5.58	5.58	0.84498	.	0.057851	0.64402	D	0.000002	T	0.56615	0.1997	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52290	-0.8595	10	0.27785	T	0.31	.	15.7379	0.77859	0.0:0.0:0.0:1.0	.	761	Q8WW38	FOG2_HUMAN	P	761;629;629;492	ENSP00000384179:L761P;ENSP00000430757:L629P;ENSP00000428720:L629P;ENSP00000367733:L492P	ENSP00000367733:L492P	L	+	2	0	ZFPM2	106883768	1.000000	0.71417	0.772000	0.31596	0.462000	0.32619	6.194000	0.72082	2.123000	0.65237	0.459000	0.35465	CTT	ZFPM2	-	NULL	ENSG00000169946		0.498	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	-	0.00	21	0	T			106814592	+1	tier1	-	no_errors	ENST00000407775	ensembl	human	known	74_37	missense	35.29	11	6	SNP	0.995	C
ZMAT2	153527	genome.wustl.edu	37	5	140080056	140080056	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:140080056G>T	ENST00000274712.3	+	1	138	c.11G>T	c.(10-12)gGc>gTc	p.G4V		NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2	4						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGCGTCGGGCAGCGGGGTA	0.547																																																	0													140.0	146.0	144.0					5																	140080056		2203	4300	6503	SO:0001583	missense	0			AK055683	CCDS4239.1	5q31	2012-10-05	2010-09-15		ENSG00000146007	ENSG00000146007		"""Zinc fingers, matrin-type"""	26433	protein-coding gene	gene with protein product						12477932	Standard	NM_144723		Approved	FLJ31121, hSNU23, Snu23	uc003lgy.1	Q96NC0	OTTHUMG00000129503	ENST00000274712.3:c.11G>T	5.37:g.140080056G>T	ENSP00000274712:p.Gly4Val			Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,pfam_Znf_U1-C,smart_Znf_U1	p.G4V	ENST00000274712.3	37	c.11	CCDS4239.1	5	.	.	.	.	.	.	.	.	.	.	g	20.8	4.057076	0.76074	.	.	ENSG00000146007	ENST00000274712	.	.	.	5.43	5.43	0.79202	.	0.233910	0.44902	D	0.000414	T	0.51669	0.1688	N	0.22421	0.69	0.80722	D	1	B	0.18013	0.025	B	0.18561	0.022	T	0.45991	-0.9223	9	0.49607	T	0.09	-5.7252	17.9788	0.89134	0.0:0.0:1.0:0.0	.	4	Q96NC0	ZMAT2_HUMAN	V	4	.	ENSP00000274712:G4V	G	+	2	0	ZMAT2	140060240	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.919000	0.87513	2.827000	0.97445	0.650000	0.86243	GGC	ZMAT2	-	NULL	ENSG00000146007		0.547	ZMAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT2	HGNC	protein_coding	OTTHUMT00000468143.1	-	0.00	66	0	G	NM_144723		140080056	+1	tier1	-	no_errors	ENST00000274712	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T
ZNF208	7757	genome.wustl.edu	37	19	22155989	22155989	+	Missense_Mutation	SNP	T	T	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:22155989T>C	ENST00000397126.4	-	4	1995	c.1847A>G	c.(1846-1848)aAa>aGa	p.K616R	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	616					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACTAAAGGTTTTGCCACATTC	0.368																																																	0													69.0	74.0	72.0					19																	22155989		2117	4243	6360	SO:0001583	missense	0			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1847A>G	19.37:g.22155989T>C	ENSP00000380315:p.Lys616Arg			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.K616R	ENST00000397126.4	37	c.1847	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	T	10.66	1.411402	0.25465	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.26223	1.75	2.8	1.75	0.24633	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40448	0.1117	.	.	.	0.27109	N	0.962417	D	0.67145	0.996	D	0.65010	0.931	T	0.17107	-1.0380	8	0.51188	T	0.08	.	6.417	0.21721	0.0:0.132:0.0:0.868	.	516	O43345	ZN208_HUMAN	R	616;516	ENSP00000380315:K616R	ENSP00000380315:K616R	K	-	2	0	ZNF208	21947829	0.997000	0.39634	0.173000	0.22940	0.100000	0.18952	3.103000	0.50298	0.069000	0.16605	0.254000	0.18369	AAA	ZNF208	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160321		0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	-	0.00	108	0	T	NM_007153		22155989	-1	tier1	-	no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	30.26	53	23	SNP	0.997	C
ZNF217	7764	genome.wustl.edu	37	20	52193535	52193535	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:52193535C>T	ENST00000371471.2	-	4	2193	c.1768G>A	c.(1768-1770)Gct>Act	p.A590T	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Missense_Mutation_p.A590T			O75362	ZN217_HUMAN	zinc finger protein 217	590					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A590T(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GAGAGGACAGCGCTGCCCAGA	0.433																																																	2	Substitution - Missense(2)	lung(2)											127.0	119.0	122.0					20																	52193535		2203	4300	6503	SO:0001583	missense	0			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1768G>A	20.37:g.52193535C>T	ENSP00000360526:p.Ala590Thr		E1P5Y6|Q14DB8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A590T	ENST00000371471.2	37	c.1768	CCDS13443.1	20	.	.	.	.	.	.	.	.	.	.	C	3.390	-0.124428	0.06795	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.07688	3.17;3.17	5.03	-6.71	0.01760	.	1.939460	0.01953	N	0.042778	T	0.02342	0.0072	N	0.02736	-0.51	0.09310	N	1	B	0.18166	0.026	B	0.06405	0.002	T	0.35400	-0.9790	10	0.02654	T	1	-0.1005	3.1965	0.06635	0.0991:0.212:0.1966:0.4924	.	590	O75362	ZN217_HUMAN	T	590	ENSP00000360526:A590T;ENSP00000304308:A590T	ENSP00000304308:A590T	A	-	1	0	ZNF217	51626942	0.000000	0.05858	0.011000	0.14972	0.983000	0.72400	-1.585000	0.02112	-1.407000	0.02043	0.555000	0.69702	GCT	ZNF217	-	NULL	ENSG00000171940		0.433	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF217	HGNC	protein_coding	OTTHUMT00000079757.2	-	0.00	70	0	C	NM_006526		52193535	-1	tier1	-	no_errors	ENST00000302342	ensembl	human	known	74_37	missense	25.53	70	24	SNP	0.000	T
ZNF271	10778	genome.wustl.edu	37	18	32888075	32888075	+	RNA	DEL	A	A	-			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr18:32888075delA	ENST00000399070.3	+	0	2469					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						ctgtctatttaaaaaaaaaaa	0.388																																																	0																																												0			X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32888075delA			B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	DEL	-	NULL	ENST00000399070.3	37	NULL		18																																																																																			ZNF271	-	-	ENSG00000257267		0.388	ZNF271-002	KNOWN	basic	processed_transcript	ZNF271	HGNC	pseudogene	OTTHUMT00000255767.2		0.00	51	0	A	NR_024565		32888075	+1	tier1		no_errors	ENST00000399070	ensembl	human	known	74_37	rna	11.36	39	5	DEL	0.019	-
ZNF280D	54816	genome.wustl.edu	37	15	56974614	56974614	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:56974614G>T	ENST00000267807.7	-	10	1058	c.842C>A	c.(841-843)aCa>aAa	p.T281K	ZNF280D_ENST00000559000.1_Missense_Mutation_p.T268K|ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000559237.1_Missense_Mutation_p.T268K	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	281					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TTTATTTACTGTACTTGAAAA	0.294																																																	0													65.0	65.0	65.0					15																	56974614		2190	4287	6477	SO:0001583	missense	0			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.842C>A	15.37:g.56974614G>T	ENSP00000267807:p.Thr281Lys		A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T281K	ENST00000267807.7	37	c.842	CCDS32245.1	15	.	.	.	.	.	.	.	.	.	.	G	3.215	-0.160871	0.06502	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000260435	T	0.02974	4.09	4.87	2.97	0.34412	.	1.994610	0.02782	N	0.120994	T	0.03220	0.0094	N	0.22421	0.69	0.80722	D	1	B;B	0.29936	0.262;0.262	B;B	0.32533	0.147;0.147	T	0.48875	-0.8996	10	0.09084	T	0.74	-2.2873	10.1612	0.42853	0.1638:0.0:0.8362:0.0	.	344;281	B4DHL1;Q6N043	.;Z280D_HUMAN	K	281;268;117	ENSP00000267807:T281K	ENSP00000260435:T117K	T	-	2	0	ZNF280D	54761906	1.000000	0.71417	0.967000	0.41034	0.938000	0.57974	6.107000	0.71517	0.558000	0.29135	0.484000	0.47621	ACA	ZNF280D	-	NULL	ENSG00000137871		0.294	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF280D	HGNC	protein_coding	OTTHUMT00000418891.2	-	0.00	39	0	G	XM_370867		56974614	-1	tier1	-	no_errors	ENST00000267807	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.856	T
ZNF341	84905	genome.wustl.edu	37	20	32346608	32346608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:32346608C>T	ENST00000375200.1	+	7	1389	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	ZNF341_ENST00000342427.2_Nonsense_Mutation_p.R335*	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GCAGCACATCCGAAGGTACAC	0.552																																																	0													78.0	63.0	68.0					20																	32346608		2203	4300	6503	SO:0001587	stop_gained	0			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.1024C>T	20.37:g.32346608C>T	ENSP00000364346:p.Arg342*		A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R342*	ENST00000375200.1	37	c.1024		20	.	.	.	.	.	.	.	.	.	.	C	41	8.792194	0.98956	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	.	.	.	5.62	4.67	0.58626	.	0.064020	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8475	13.2142	0.59849	0.4317:0.5683:0.0:0.0	.	.	.	.	X	335;342	.	ENSP00000344308:R335X	R	+	1	2	ZNF341	31810269	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.347000	0.52200	1.503000	0.48686	0.561000	0.74099	CGA	ZNF341	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000131061		0.552	ZNF341-201	KNOWN	basic	protein_coding	ZNF341	HGNC	protein_coding		-	0.00	29	0	C			32346608	+1	tier1	-	no_errors	ENST00000375200	ensembl	human	known	74_37	nonsense	18.18	27	6	SNP	1.000	T
ZNF346	23567	genome.wustl.edu	37	5	176449767	176449767	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:176449767C>T	ENST00000358149.3	+	1	71	c.28C>T	c.(28-30)Cag>Tag	p.Q10*	ZNF346_ENST00000261948.4_Nonsense_Mutation_p.Q10*|ZNF346_ENST00000511834.1_Nonsense_Mutation_p.Q10*|ZNF346_ENST00000503425.1_Nonsense_Mutation_p.Q10*|ZNF346_ENST00000503039.1_Nonsense_Mutation_p.Q10*|ZNF346_ENST00000506693.1_Nonsense_Mutation_p.Q10*|ZNF346_ENST00000512315.1_Nonsense_Mutation_p.Q10*	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346	10					positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCACGGTGCAGGCCGCGGA	0.692																																																	0													4.0	6.0	5.0					5																	176449767		2027	4138	6165	SO:0001587	stop_gained	0			AF083340	CCDS4409.1	5q35.3	2012-10-05			ENSG00000113761	ENSG00000113761			16403	protein-coding gene	gene with protein product		605308				10488071	Standard	NM_012279		Approved	JAZ, Zfp346	uc003mfi.3	Q9UL40	OTTHUMG00000130848	ENST00000358149.3:c.28C>T	5.37:g.176449767C>T	ENSP00000350869:p.Gln10*		B7Z367|Q68CV9|Q6ZMW1	Nonsense_Mutation	SNP	smart_Znf_U1,smart_Znf_C2H2-like	p.Q10*	ENST00000358149.3	37	c.28	CCDS4409.1	5	.	.	.	.	.	.	.	.	.	.	C	14.49	2.549518	0.45383	.	.	ENSG00000113761	ENST00000358149;ENST00000506693;ENST00000512315;ENST00000503425;ENST00000261948;ENST00000511834;ENST00000503039	.	.	.	3.27	2.4	0.29515	.	0.598488	0.13940	N	0.352260	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	8.5612	0.33511	0.0:0.2414:0.7586:0.0	.	.	.	.	X	10	.	ENSP00000261948:Q10X	Q	+	1	0	ZNF346	176382373	0.476000	0.25901	0.013000	0.15412	0.028000	0.11728	0.427000	0.21379	0.944000	0.37579	-0.234000	0.12200	CAG	ZNF346	-	NULL	ENSG00000113761		0.692	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF346	HGNC	protein_coding	OTTHUMT00000253415.2		0.00	82	0	C	NM_012279		176449767	+1			no_errors	ENST00000261948	ensembl	human	known	74_37	nonsense	5.48	69	4	SNP	0.015	T
ZNF384	171017	genome.wustl.edu	37	12	6787531	6787531	+	Missense_Mutation	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:6787531C>T	ENST00000396801.3	-	6	655	c.448G>A	c.(448-450)Gct>Act	p.A150T	ZNF384_ENST00000355772.4_Intron|ZNF384_ENST00000396795.1_Missense_Mutation_p.A150T|ZNF384_ENST00000319770.3_Missense_Mutation_p.A134T|ZNF384_ENST00000361959.3_Missense_Mutation_p.A150T|ZNF384_ENST00000396799.2_Missense_Mutation_p.A150T	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	150					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GGGGGAAGAGCTGAGACAATC	0.587			T	"""EWSR1, TAF15 """	ALL																																			Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	0													45.0	43.0	44.0					12																	6787531		2203	4300	6503	SO:0001583	missense	0			U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.448G>A	12.37:g.6787531C>T	ENSP00000380019:p.Ala150Thr		O15407|Q7Z722|Q8N938	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A150T	ENST00000396801.3	37	c.448	CCDS44817.1	12	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507653	0.44558	.	.	ENSG00000126746	ENST00000319770;ENST00000396795;ENST00000396801;ENST00000361959;ENST00000396799;ENST00000417772;ENST00000436774;ENST00000542796;ENST00000540915;ENST00000535485	T;T;T;T;T;T	0.09723	3.06;2.97;2.95;2.95;2.97;3.44	5.47	4.58	0.56647	.	0.260548	0.37623	N	0.002012	T	0.09774	0.0240	L	0.47716	1.5	0.51012	D	0.999904	B;B;B;B	0.31968	0.349;0.095;0.046;0.046	B;B;B;B	0.25140	0.038;0.058;0.015;0.023	T	0.16600	-1.0397	10	0.21014	T	0.42	-3.1872	12.4018	0.55418	0.0:0.9222:0.0:0.0778	.	150;150;134;150	Q8TF68;E9PHB3;F8W6Q3;Q8TF68-2	ZN384_HUMAN;.;.;.	T	134;150;150;150;150;150;134;134;150;134	ENSP00000321650:A134T;ENSP00000380013:A150T;ENSP00000380019:A150T;ENSP00000354592:A150T;ENSP00000380017:A150T;ENSP00000412911:A134T	ENSP00000321650:A134T	A	-	1	0	ZNF384	6657792	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.718000	0.47236	1.308000	0.44962	0.591000	0.81541	GCT	ZNF384	-	NULL	ENSG00000126746		0.587	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF384	HGNC	protein_coding	OTTHUMT00000400712.1	-	0.00	42	0	C			6787531	-1	tier1	-	no_errors	ENST00000361959	ensembl	human	known	74_37	missense	70.59	5	12	SNP	1.000	T
ZNF419	79744	genome.wustl.edu	37	19	58005060	58005060	+	Missense_Mutation	SNP	T	T	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:58005060T>G	ENST00000221735.7	+	5	1321	c.1135T>G	c.(1135-1137)Ttt>Gtt	p.F379V	ZNF419_ENST00000442920.2_Missense_Mutation_p.F366V|ZNF419_ENST00000424930.2_Missense_Mutation_p.F380V|ZNF419_ENST00000347466.6_Missense_Mutation_p.F347V|ZNF419_ENST00000354197.4_Missense_Mutation_p.F367V|ZNF419_ENST00000415379.2_Missense_Mutation_p.F333V|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000426954.2_Missense_Mutation_p.F367V			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		CTGTGGGAAATTTTTTACCCA	0.408																																																	0													81.0	85.0	84.0					19																	58005060		2200	4297	6497	SO:0001583	missense	0			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1135T>G	19.37:g.58005060T>G	ENSP00000221735:p.Phe379Val		B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	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.F380V	ENST00000221735.7	37	c.1138	CCDS54326.1	19	.	.	.	.	.	.	.	.	.	.	T	10.63	1.405079	0.25378	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.16743	3.25;3.25;3.25;3.25;3.25;2.32;3.25	2.26	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14614	0.0353	N	0.02539	-0.55	0.23454	N	0.997643	D;D;D;D;B;D;B	0.69078	0.985;0.991;0.997;0.991;0.292;0.996;0.292	D;D;D;D;B;D;B	0.79108	0.966;0.982;0.992;0.988;0.071;0.986;0.071	T	0.25222	-1.0138	9	0.38643	T	0.18	.	7.3178	0.26511	0.0:0.0:0.2246:0.7754	.	333;333;366;367;380;347;379	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	V	354;380;367;367;366;380;347;333;379	ENSP00000388864:F380V;ENSP00000390916:F367V;ENSP00000346136:F367V;ENSP00000414709:F366V;ENSP00000299860:F347V;ENSP00000392129:F333V;ENSP00000221735:F379V	ENSP00000221735:F379V	F	+	1	0	ZNF419	62696872	0.000000	0.05858	0.044000	0.18714	0.111000	0.19643	-1.253000	0.02877	0.101000	0.17610	0.260000	0.18958	TTT	ZNF419	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000105136		0.408	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	ZNF419	HGNC	protein_coding	OTTHUMT00000378506.1	-	0.00	92	0	T	NM_024691		58005060	+1	tier1	-	no_errors	ENST00000424930	ensembl	human	known	74_37	missense	27.63	55	21	SNP	0.743	G
ZNF446	55663	genome.wustl.edu	37	19	58989057	58989057	+	Missense_Mutation	SNP	G	G	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:58989057G>T	ENST00000594369.1	+	3	777	c.396G>T	c.(394-396)gaG>gaT	p.E132D	CTD-2619J13.23_ENST00000598051.1_RNA|ZNF446_ENST00000335841.4_Missense_Mutation_p.E132D|ZNF446_ENST00000596341.1_Missense_Mutation_p.E132D	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	132					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AGAAGACAGAGGAACCACTTG	0.607																																																	0													51.0	55.0	54.0					19																	58989057		2203	4300	6503	SO:0001583	missense	0				CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.396G>T	19.37:g.58989057G>T	ENSP00000472802:p.Glu132Asp			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E132D	ENST00000594369.1	37	c.396	CCDS12982.1	19	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756575	0.31137	.	.	ENSG00000083838	ENST00000335841;ENST00000540481;ENST00000539679	T	0.05447	3.44	4.52	2.19	0.27852	Transcription regulator SCAN (1);	0.636872	0.12464	N	0.466599	T	0.08223	0.0205	N	0.24115	0.695	0.27756	N	0.944005	D;D;D	0.69078	0.997;0.996;0.985	P;P;P	0.59012	0.85;0.82;0.637	T	0.31641	-0.9936	10	0.22109	T	0.4	-28.4434	5.4696	0.16662	0.1105:0.2053:0.6843:0.0	.	132;132;132	F5H201;Q96AF5;Q9NWS9	.;.;ZN446_HUMAN	D	132	ENSP00000336565:E132D	ENSP00000336565:E132D	E	+	3	2	ZNF446	63680869	0.130000	0.22417	0.705000	0.30386	0.074000	0.17049	0.229000	0.17833	1.209000	0.43321	0.491000	0.48974	GAG	ZNF446	-	smart_Tscrpt_reg_SCAN	ENSG00000083838		0.607	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF446	HGNC	protein_coding	OTTHUMT00000467052.1	-	0.00	51	0	G	NM_017908		58989057	+1	tier1	-	no_errors	ENST00000594369	ensembl	human	known	74_37	missense	40.91	13	9	SNP	0.206	T
ZNF469	84627	genome.wustl.edu	37	16	88503805	88503805	+	Silent	SNP	C	C	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:88503805C>A	ENST00000437464.1	+	2	9843	c.9843C>A	c.(9841-9843)ccC>ccA	p.P3281P	ZNF469_ENST00000565624.1_Silent_p.P3309P	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	3281					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(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						GGACGACCCCCAGCCCGTCCC	0.781																																																	0													1.0	1.0	1.0					16																	88503805		194	702	896	SO:0001819	synonymous_variant	0			AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.9843C>A	16.37:g.88503805C>A				Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P3281	ENST00000437464.1	37	c.9843	CCDS45544.1	16																																																																																			ZNF469	-	NULL	ENSG00000225614		0.781	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF469	HGNC	protein_coding			0.00	11	0	C	NG_012236		88503805	+1			no_errors	ENST00000437464	ensembl	human	known	74_37	silent	30.00	7	3	SNP	0.000	A
ZNF554	115196	genome.wustl.edu	37	19	2833992	2833992	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:2833992C>T	ENST00000317243.5	+	5	957	c.759C>T	c.(757-759)agC>agT	p.S253S	ZNF554_ENST00000591265.1_3'UTR	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATATTACAAGCTTGGCATCCG	0.463																																																	0													102.0	101.0	101.0					19																	2833992		1922	4126	6048	SO:0001819	synonymous_variant	0			AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"""Zinc fingers, C2H2-type"", ""-"""	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.759C>T	19.37:g.2833992C>T			Q8NAT3|Q9BWN3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S253	ENST00000317243.5	37	c.759	CCDS42462.1	19																																																																																			ZNF554	-	NULL	ENSG00000172006		0.463	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF554	HGNC	protein_coding	OTTHUMT00000451598.3	-	0.00	31	0	C	NM_152303		2833992	+1	tier1	-	no_errors	ENST00000317243	ensembl	human	known	74_37	silent	45.16	17	14	SNP	0.034	T
ZNF585A	199704	genome.wustl.edu	37	19	37643680	37643680	+	Missense_Mutation	SNP	C	C	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:37643680C>A	ENST00000356958.4	-	5	1379	c.1121G>T	c.(1120-1122)aGa>aTa	p.R374I	ZNF585A_ENST00000292841.5_Missense_Mutation_p.R319I|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.R319I|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTGTGAATTCTCTGATGAAT	0.418																																																	0													86.0	83.0	84.0					19																	37643680		2203	4298	6501	SO:0001583	missense	0			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1121G>T	19.37:g.37643680C>A	ENSP00000349440:p.Arg374Ile		Q8TE95|Q96MV3	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.R374I	ENST00000356958.4	37	c.1121		19	.	.	.	.	.	.	.	.	.	.	C	16.25	3.071060	0.55646	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157	T;T;T	0.24908	1.83;1.83;1.83	2.83	1.74	0.24563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40818	N	0.001006	T	0.29716	0.0742	L	0.37507	1.11	0.80722	D	1	D	0.61080	0.989	P	0.56563	0.801	T	0.02533	-1.1145	10	0.59425	D	0.04	.	8.793	0.34863	0.2271:0.7729:0.0:0.0	.	374	Q6P3V2	Z585A_HUMAN	I	374;319;319	ENSP00000349440:R374I;ENSP00000292841:R319I;ENSP00000375998:R319I	ENSP00000292841:R319I	R	-	2	0	ZNF585A	42335520	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	0.121000	0.15667	0.497000	0.27926	0.561000	0.74099	AGA	ZNF585A	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196967		0.418	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	ZNF585A	HGNC	protein_coding	OTTHUMT00000457980.2	-	0.00	73	0	C	NM_152655		37643680	-1	tier1	-	no_errors	ENST00000356958	ensembl	human	known	74_37	missense	35.19	35	19	SNP	1.000	A
ZNF570	148268	genome.wustl.edu	37	19	37975066	37975066	+	Missense_Mutation	SNP	A	A	G			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:37975066A>G	ENST00000330173.1	+	5	1071	c.542A>G	c.(541-543)aAg>aGg	p.K181R	ZNF570_ENST00000388801.3_5'UTR|ZNF570_ENST00000586475.1_Missense_Mutation_p.K237R	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	181					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(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTACACAAAAGATAATCCCC	0.363																																																	0													107.0	120.0	116.0					19																	37975066		2202	4300	6502	SO:0001583	missense	0			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"""Zinc fingers, C2H2-type"", ""-"""	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.542A>G	19.37:g.37975066A>G	ENSP00000331540:p.Lys181Arg		A1L472|B4DMP1	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.K181R	ENST00000330173.1	37	c.542	CCDS12504.1	19	.	.	.	.	.	.	.	.	.	.	A	4.303	0.055569	0.08291	.	.	ENSG00000171827	ENST00000330173	T	0.04502	3.61	4.74	1.45	0.22620	.	3.155360	0.01121	N	0.005781	T	0.05227	0.0139	L	0.28556	0.865	0.58432	D	0.999999	B	0.12630	0.006	B	0.14023	0.01	T	0.27123	-1.0083	10	0.54805	T	0.06	.	4.2554	0.10715	0.5654:0.1677:0.2669:0.0	.	181	Q96NI8	ZN570_HUMAN	R	181	ENSP00000331540:K181R	ENSP00000331540:K181R	K	+	2	0	ZNF570	42666906	0.005000	0.15991	0.980000	0.43619	0.188000	0.23474	0.922000	0.28734	0.063000	0.16370	-0.370000	0.07254	AAG	ZNF570	-	NULL	ENSG00000171827		0.363	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF570	HGNC	protein_coding	OTTHUMT00000109600.1	-	0.00	30	0	A	NM_144694		37975066	+1	tier1	-	no_errors	ENST00000330173	ensembl	human	known	74_37	missense	47.62	11	10	SNP	0.842	G
ZNF668	79759	genome.wustl.edu	37	16	31075994	31075994	+	Intron	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:31075994G>A	ENST00000538906.1	-	2	763				AC135050.5_ENST00000568708.1_RNA|ZNF668_ENST00000564456.1_5'UTR|ZNF668_ENST00000535577.1_Intron|ZNF668_ENST00000426488.2_5'UTR|ZNF668_ENST00000300849.4_Intron|ZNF668_ENST00000539836.3_5'UTR|ZNF668_ENST00000394983.2_Intron	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TGGACCAAGTGTCCGCAGAGC	0.557																																					Colon(181;1111 1980 5060 10512 25785)												0																																										SO:0001627	intron_variant	0				CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.22-192C>T	16.37:g.31075994G>A			C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	RNA	SNP	-	NULL	ENST00000538906.1	37	NULL	CCDS10701.1	16																																																																																			ZNF668	-	-	ENSG00000167394		0.557	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF668	HGNC	protein_coding	OTTHUMT00000108516.2	-	0.00	26	0	G	NM_024706		31075994	-1	tier1	-	no_errors	ENST00000564456	ensembl	human	known	74_37	rna	16.67	20	4	SNP	0.000	A
ZNF74	7625	genome.wustl.edu	37	22	20759771	20759771	+	Missense_Mutation	SNP	G	G	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr22:20759771G>C	ENST00000400451.2	+	5	962	c.448G>C	c.(448-450)Ggg>Cgg	p.G150R	ZNF74_ENST00000356671.5_Missense_Mutation_p.G150R|ZNF74_ENST00000357502.5_Missense_Mutation_p.G155A|ZNF74_ENST00000405993.1_Missense_Mutation_p.G118R|ZNF74_ENST00000403682.3_Missense_Mutation_p.G121A	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	150					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCAGGCGTGGGGGCGCCAGGC	0.687																																																	0													28.0	32.0	30.0					22																	20759771		1883	4079	5962	SO:0001583	missense	0			X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"""Zinc fingers, C2H2-type"", ""-"""	13144	protein-coding gene	gene with protein product		194548	"""zinc finger protein 74 (Cos52)"""			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.448G>C	22.37:g.20759771G>C	ENSP00000383301:p.Gly150Arg		B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	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.G150R	ENST00000400451.2	37	c.448	CCDS42982.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.42|11.42	1.634808|1.634808	0.29068|0.29068	.|.	.|.	ENSG00000185252|ENSG00000185252	ENST00000403682;ENST00000357502|ENST00000400451;ENST00000420626;ENST00000356671;ENST00000405993	.|T;T;T;T	.|0.69175	.|3.51;-0.38;3.51;3.39	3.85|3.85	3.85|3.85	0.44370|0.44370	.|.	2.084070|2.084070	0.02602|0.02602	N|N	0.101165|0.101165	T|T	0.50820|0.50820	0.1638|0.1638	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|P	.|0.35982	.|0.531	.|B	.|0.33690	.|0.168	T|T	0.48410|0.48410	-0.9038|-0.9038	7|10	0.87932|0.22109	D|T	0|0.4	-3.5862|-3.5862	14.0771|14.0771	0.64897|0.64897	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|150	.|Q16587	.|ZNF74_HUMAN	A|R	121;155|150;47;150;118	.|ENSP00000383301:G150R;ENSP00000397011:G47R;ENSP00000349098:G150R;ENSP00000385855:G118R	ENSP00000350101:G155A|ENSP00000349098:G150R	G|G	+|+	2|1	0|0	ZNF74|ZNF74	19089771|19089771	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.004000|0.004000	0.04260|0.04260	-0.170000|-0.170000	0.09897|0.09897	2.429000|2.429000	0.82318|0.82318	0.655000|0.655000	0.94253|0.94253	GGG|GGG	ZNF74	-	NULL	ENSG00000185252		0.687	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF74	HGNC	protein_coding	OTTHUMT00000319648.2	-	0.00	35	0	G	NM_003426		20759771	+1	tier1	-	no_errors	ENST00000356671	ensembl	human	known	74_37	missense	41.46	24	17	SNP	0.023	C
ZRANB3	84083	genome.wustl.edu	37	2	136033263	136033264	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:136033263_136033264insC	ENST00000264159.6	-	9	1144_1145	c.1028_1029insG	c.(1027-1029)gttfs	p.V343fs	ZRANB3_ENST00000536680.1_Frame_Shift_Ins_p.V343fs|ZRANB3_ENST00000401392.1_Frame_Shift_Ins_p.V343fs	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	343	DNA annealing helicase activity.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GGTGAGCAAAAACCAGAAATTT	0.317																																																	0																																										SO:0001589	frameshift_variant	0			AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.1028_1029insG	2.37:g.136033263_136033264insC	ENSP00000264159:p.Val343fs		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Frame_Shift_Ins	INS	pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A345fs	ENST00000264159.6	37	c.1029_1028	CCDS46419.1	2																																																																																			ZRANB3	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000121988		0.317	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB3	HGNC	protein_coding	OTTHUMT00000318254.1		0.00	40	0	-	NM_032143		136033264	-1	tier1		no_errors	ENST00000264159	ensembl	human	known	74_37	frame_shift_ins	16.28	36	7	INS	0.998:1.000	C
ZSCAN18	65982	genome.wustl.edu	37	19	58596076	58596076	+	Silent	SNP	G	G	A			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:58596076G>A	ENST00000240727.6	-	7	1908	c.1509C>T	c.(1507-1509)ccC>ccT	p.P503P	ZSCAN18_ENST00000600404.1_Silent_p.P559P|ZSCAN18_ENST00000601144.1_Silent_p.P503P|ZSCAN18_ENST00000421612.2_Silent_p.P367P	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	503					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CTGGGGGTGCGGGGGGAGCCT	0.756																																																	0													5.0	6.0	5.0					19																	58596076		1843	3898	5741	SO:0001819	synonymous_variant	0			AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.1509C>T	19.37:g.58596076G>A			B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Silent	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.P559	ENST00000240727.6	37	c.1677	CCDS12971.1	19																																																																																			ZSCAN18	-	NULL	ENSG00000121413		0.756	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ZSCAN18	HGNC	protein_coding	OTTHUMT00000466706.1		0.00	15	0	G	NM_023926		58596076	-1			no_errors	ENST00000600404	ensembl	human	known	74_37	silent	21.43	11	3	SNP	0.041	A
ZSCAN23	222696	genome.wustl.edu	37	6	28403283	28403283	+	Silent	SNP	C	C	T			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:28403283C>T	ENST00000289788.4	-	3	655	c.510G>A	c.(508-510)gaG>gaA	p.E170E	ZSCAN23_ENST00000486481.1_5'UTR	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	170					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)|stomach(2)	4						ACCCAAGTTGCTCTTCCAAGG	0.458																																																	0													85.0	74.0	77.0					6																	28403283		692	1591	2283	SO:0001819	synonymous_variant	0			AK092117	CCDS47393.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000187987	ENSG00000187987		"""-"", ""Zinc fingers, C2H2-type"""	21193	protein-coding gene	gene with protein product			"""zinc finger protein 453"", ""zinc finger protein 390"""	ZNF453, ZNF390			Standard	NM_001012455		Approved	dJ29K1.3.1	uc003nli.4	Q3MJ62	OTTHUMG00000016346	ENST00000289788.4:c.510G>A	6.37:g.28403283C>T			Q96KV9	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E170	ENST00000289788.4	37	c.510	CCDS47393.1	6																																																																																			ZSCAN23	-	NULL	ENSG00000187987		0.458	ZSCAN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN23	HGNC	protein_coding	OTTHUMT00000043751.2	-	0.00	30	0	C	XM_167147		28403283	-1	tier1	-	no_errors	ENST00000289788	ensembl	human	known	74_37	silent	19.44	29	7	SNP	0.841	T
