#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_ENSG_ID	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_Ens_Gene	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_Normal_Alt_Count	i_Normal_Ref_Count	i_Normal_VAF	i_ORegAnno_bin	i_PurityEst	i_RNA_Tum_Ref_count	i_RNA_Tum_VAF	i_RNA_Tum_Var_count	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Tier	i_Tumor_Alt_Count	i_Tumor_Ref_Count	i_Tumor_VAF	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_WGS_Norm_Ref_count	i_WGS_Norm_VAF	i_WGS_Norm_Var_count	i_WGS_Tum_Ref_count	i_WGS_Tum_VAF	i_WGS_Tum_Var_count	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_rs_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
SUPT20H	55578	genome.wustl.edu	37	13	37619392	37619392	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr13:37619392delT	ENST00000350612.6	-	6	504	c.284delA	c.(283-285)aacfs	p.N95fs	SUPT20H_ENST00000360252.4_Frame_Shift_Del_p.N96fs|SUPT20H_ENST00000356185.3_Frame_Shift_Del_p.N96fs|SUPT20H_ENST00000542180.1_Frame_Shift_Del_p.N83fs|SUPT20H_ENST00000464744.1_Frame_Shift_Del_p.N96fs|SUPT20H_ENST00000470359.2_5'UTR|SUPT20H_ENST00000475892.1_Frame_Shift_Del_p.N95fs	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	95					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										ACCTGATCCGTTTTTTCCCCT	0.403																																																	0								ENSG00000102710						106.0	100.0	102.0					13																	37619392		2203	4300	6503	SUPT20H	SO:0001589	frameshift_variant	0				HGNC	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.284delA	13.37:g.37619392delT	ENSP00000218894:p.Asn95fs	Somatic	0	46	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	E7ER46|Q71RF3|Q9Y6A6	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Spt20	p.N95fs	ENST00000350612.6	37	c.284	CCDS31959.1	13																																																																																			-	pfam_Spt20		0.403	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT20H	protein_coding	OTTHUMT00000354766.1	T	NM_017569			37619392	-1	no_errors	ENST00000350612	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
RP11-166B2.1	0	genome.wustl.edu	37	16	12021609	12021609	+	Missense_Mutation	SNP	G	G	A	rs560635478	byFrequency	TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr16:12021609G>A	ENST00000399147.4	-	8	814	c.815C>T	c.(814-816)aCt>aTt	p.T272I																	lung(2)	2						GGAGTTATCAGTTATAGAATG	0.517													g|||	2	0.000399361	0.0008	0.0	5008	,	,		22132	0.0		0.001	False		,,,				2504	0.0																0								ENSG00000234719																																			RP11-166B2.1	SO:0001583	missense	0			-	Clone_based_vega_gene																												ENST00000399147.4:c.815C>T	16.37:g.12021609G>A	ENSP00000382101:p.Thr272Ile	Somatic	0	37	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	30	13.89		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.T272I	ENST00000399147.4	37	c.815		16	.	.	.	.	.	.	.	.	.	.	g	1.198	-0.633299	0.03584	.	.	ENSG00000234719	ENST00000399147;ENST00000547494	T;T	0.42513	0.97;0.97	.	.	.	.	.	.	.	.	T	0.51941	0.1704	.	.	.	.	.	.	.	.	.	.	.	.	T	0.67440	-0.5670	2	0.87932	D	0	.	.	.	.	.	.	.	.	I	272;255	ENSP00000382101:T272I;ENSP00000448752:T255I	ENSP00000382101:T272I	T	-	2	0	RP11-166B2.1	11929110	0.274000	0.24191	.	.	.	.	0.075000	0.14686	.	.	.	.	ACT	-	NULL		0.517	RP11-166B2.1-001	PUTATIVE	basic|appris_principal	protein_coding	ENSG00000234719	protein_coding	OTTHUMT00000388781.3	G		-		12021609	-1	no_errors	ENST00000399147	ensembl	human	putative	74_37	missense	SNP	0.000	A
RP11-652G5.1	0	genome.wustl.edu	37	16	32616275	32616275	+	RNA	SNP	C	C	G	rs1505124	byFrequency	TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr16:32616275C>G	ENST00000562976.1	+	0	294																											GATGTCCCAGCCGTTCACATG	0.388																																																	0								ENSG00000259966																																			RP11-652G5.1			0			-	Clone_based_vega_gene																													16.37:g.32616275C>G		Somatic	0	73	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	58	12.12		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000562976.1	37	NULL		16																																																																																			-	-		0.388	RP11-652G5.1-002	KNOWN	basic	processed_transcript	ENSG00000259966	pseudogene	OTTHUMT00000432347.1	C		rs1505124		32616275	+1	no_errors	ENST00000562976	ensembl	human	known	74_37	rna	SNP	0.000	G
DNHD1	144132	genome.wustl.edu	37	11	6579248	6579248	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr11:6579248G>T	ENST00000527990.2	+	23	8723	c.8723G>T	c.(8722-8724)tGt>tTt	p.C2908F	DNHD1_ENST00000254579.6_Missense_Mutation_p.C2908F			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2908					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)		TCTAGCATTTGTCAGGCCCAT	0.602																																																	0								ENSG00000179532						65.0	52.0	56.0					11																	6579248		692	1591	2283	DNHD1	SO:0001583	missense	0			-	HGNC	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.8723G>T	11.37:g.6579248G>T	ENSP00000436180:p.Cys2908Phe	Somatic	0	47	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	39	30.36	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE	p.C2908F	ENST00000527990.2	37	c.8723	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	G	3.616	-0.078612	0.07141	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000534210	T;T	0.28255	1.62;1.62	5.6	2.65	0.31530	.	.	.	.	.	T	0.18882	0.0453	N	0.08118	0	0.28373	N	0.919926	P;P	0.45078	0.638;0.85	B;P	0.45276	0.078;0.475	T	0.07233	-1.0783	9	0.56958	D	0.05	.	7.6306	0.28236	0.1562:0.1348:0.709:0.0	.	2908;655	Q96M86;E9PHZ7	DNHD1_HUMAN;.	F	2908;2908;655	ENSP00000254579:C2908F;ENSP00000436180:C2908F	ENSP00000254579:C2908F	C	+	2	0	DNHD1	6535824	0.003000	0.15002	0.977000	0.42913	0.041000	0.13682	0.217000	0.17603	0.281000	0.22233	-0.142000	0.14014	TGT	-	superfamily_P-loop_NTPase		0.602	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	protein_coding	OTTHUMT00000384673.2	G	NM_144666	-		6579248	+1	no_errors	ENST00000254579	ensembl	human	known	74_37	missense	SNP	0.706	T
SIX5	147912	genome.wustl.edu	37	19	46265047	46265048	+	IGR	INS	-	-	TCCAGC	rs139434566|rs59054027		TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr19:46265047_46265048insTCCAGC	ENST00000317578.6	-	0	3318				AC074212.3_ENST00000457052.2_In_Frame_Ins_p.453_453S>SSS|AC074212.5_ENST00000559756.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5						lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GCAAGGCGCCAtccagctccag	0.658																																																	0								ENSG00000237452																																			AC074212.3	SO:0001628	intergenic_variant	0				Clone_based_vega_gene	L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"""Homeoboxes / SINE class"""	10891	protein-coding gene	gene with protein product		600963	"""sine oculis homeobox (Drosophila) homolog 5"", ""sine oculis homeobox homolog 5 (Drosophila)"""	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196			19.37:g.46265048_46265053dupTCCAGC		Somatic	NA	NA	NA		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_HMG_box_dom,pfam_bHLH_dom,superfamily_HMG_box_dom,superfamily_bHLH_dom,smart_HMG_box_dom,pfscan_bHLH_dom,pfscan_HMG_box_dom	p.456in_frame_insSS	ENST00000317578.6	37	c.1356_1357	CCDS12673.1	19																																																																																			-	NULL		0.658	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000237452	protein_coding	OTTHUMT00000417341.3	-	NM_175875			46265048	+1	no_errors	ENST00000457052	ensembl	human	putative	74_37	in_frame_ins	INS	0.000:0.004	TCCAGC
DNAJB9	4189	genome.wustl.edu	37	7	108213494	108213494	+	Silent	SNP	C	C	A			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr7:108213494C>A	ENST00000249356.3	+	3	915	c.369C>A	c.(367-369)ggC>ggA	p.G123G	DNAJB9_ENST00000465725.1_Intron	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	123					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)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						AAGACTTTGGCTTTTTTGGTC	0.388																																																	0								ENSG00000128590						93.0	89.0	91.0					7																	108213494		2203	4300	6503	DNAJB9	SO:0001819	synonymous_variant	0			-	HGNC	AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"""Heat shock proteins / DNAJ (HSP40)"""	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.369C>A	7.37:g.108213494C>A		Somatic	0	27	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	56	13.85		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.G123	ENST00000249356.3	37	c.369	CCDS5752.1	7																																																																																			-	NULL		0.388	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB9	protein_coding	OTTHUMT00000337414.1	C		-		108213494	+1	no_errors	ENST00000249356	ensembl	human	known	74_37	silent	SNP	0.993	A
CFTR	1080	genome.wustl.edu	37	7	117175332	117175332	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr7:117175332G>A	ENST00000003084.6	+	6	742	c.610G>A	c.(610-612)Gct>Act	p.A204T	CFTR_ENST00000454343.1_Missense_Mutation_p.A204T	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	204	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CGTGTGGATCGCTCCTTTGCA	0.458									Cystic Fibrosis																																								0								ENSG00000001626						225.0	203.0	210.0					7																	117175332		2203	4300	6503	CFTR	SO:0001583	missense	0	Familial Cancer Database	CF	-	HGNC	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.610G>A	7.37:g.117175332G>A	ENSP00000003084:p.Ala204Thr	Somatic	0	115	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	47	21.67	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.A204T	ENST00000003084.6	37	c.610	CCDS5773.1	7	.	.	.	.	.	.	.	.	.	.	G	10.21	1.288342	0.23478	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.89270	-2.49;-2.49;-2.49	5.52	4.63	0.57726	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.206667	0.51477	D	0.000095	D	0.83839	0.5341	L	0.31752	0.955	0.27189	N	0.960463	B	0.21905	0.062	B	0.24155	0.051	T	0.74711	-0.3573	10	0.44086	T	0.13	-2.9439	15.8537	0.78956	0.0:0.0:0.8636:0.1364	.	204	P13569	CFTR_HUMAN	T	204;204;174	ENSP00000003084:A204T;ENSP00000403677:A204T;ENSP00000389119:A174T	ENSP00000003084:A204T	A	+	1	0	CFTR	116962568	1.000000	0.71417	0.614000	0.29051	0.030000	0.12068	4.798000	0.62510	1.307000	0.44944	0.650000	0.86243	GCT	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel		0.458	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	protein_coding	OTTHUMT00000059397.3	G	NM_000492	-		117175332	+1	no_errors	ENST00000003084	ensembl	human	known	74_37	missense	SNP	0.969	A
IRF8	3394	genome.wustl.edu	37	16	85946797	85946797	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr16:85946797C>T	ENST00000268638.5	+	5	930	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	IRF8_ENST00000562492.1_5'Flank	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	170					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GGAGGCCTGTCGGAGTCAGCT	0.617																																																	0								ENSG00000140968						93.0	99.0	97.0					16																	85946797		2198	4300	6498	IRF8	SO:0001583	missense	0			-	HGNC	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.508C>T	16.37:g.85946797C>T	ENSP00000268638:p.Arg170Trp	Somatic	0	27	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51	A0AV82	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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.R170W	ENST00000268638.5	37	c.508	CCDS10956.1	16	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740702	0.69304	.	.	ENSG00000140968	ENST00000268638	D	0.97041	-4.22	4.86	-0.244	0.13031	.	0.454767	0.24147	N	0.041114	D	0.94584	0.8255	L	0.55481	1.735	0.80722	D	1	B	0.26577	0.153	B	0.23275	0.045	D	0.87374	0.2352	10	0.33940	T	0.23	-35.7004	16.2275	0.82311	0.3233:0.6767:0.0:0.0	.	170	Q02556	IRF8_HUMAN	W	170	ENSP00000268638:R170W	ENSP00000268638:R170W	R	+	1	2	IRF8	84504298	0.911000	0.30947	0.966000	0.40874	0.984000	0.73092	0.094000	0.15107	-0.250000	0.09555	0.561000	0.74099	CGG	-	NULL		0.617	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF8	protein_coding	OTTHUMT00000269100.2	C	NM_002163	-		85946797	+1	no_errors	ENST00000268638	ensembl	human	known	74_37	missense	SNP	0.997	T
KCNC3	3748	genome.wustl.edu	37	19	50823861	50823861	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr19:50823861G>T	ENST00000477616.1	-	3	2453	c.2159C>A	c.(2158-2160)tCc>tAc	p.S720Y	KCNC3_ENST00000474951.1_Missense_Mutation_p.S36Y|KCNC3_ENST00000391818.2_Missense_Mutation_p.P57T|KCNC3_ENST00000376959.2_Missense_Mutation_p.S720Y	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	720					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|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)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	TTTTCGGATGGAGCCATCAGG	0.672																																					Melanoma(91;1496 2324 50908)												0								ENSG00000131398						31.0	28.0	29.0					19																	50823861		2203	4299	6502	KCNC3	SO:0001583	missense	0			-	HGNC	AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.2159C>A	19.37:g.50823861G>T	ENSP00000434241:p.Ser720Tyr	Somatic	0	115	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	182	11.65		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.S720Y	ENST00000477616.1	37	c.2159	CCDS12793.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.24|14.24	2.475346|2.475346	0.43942|0.43942	.|.	.|.	ENSG00000131398|ENSG00000131398	ENST00000391818|ENST00000376959;ENST00000474951;ENST00000477616;ENST00000443843	.|D;D	.|0.98135	.|-4.74;-4.74	2.72|2.72	2.72|2.72	0.32119|0.32119	.|.	.|0.882556	.|0.09294	.|U	.|0.821979	D|D	0.93207|0.93207	0.7836|0.7836	N|N	0.19112|0.19112	0.55|0.55	0.24779|0.24779	N|N	0.992826|0.992826	.|P;P	.|0.52316	.|0.952;0.704	.|B;B	.|0.39531	.|0.302;0.046	D|D	0.88308|0.88308	0.2954|0.2954	6|10	0.87932|0.72032	D|D	0|0.01	.|.	7.6948|7.6948	0.28587|0.28587	0.0:0.2636:0.7364:0.0|0.0:0.2636:0.7364:0.0	.|.	.|720;720	.|Q14003;E7ETH1	.|KCNC3_HUMAN;.	T|Y	57|720;36;720;534	.|ENSP00000366158:S720Y;ENSP00000434241:S720Y	ENSP00000375694:P57T|ENSP00000366158:S720Y	P|S	-|-	1|2	0|0	KCNC3|KCNC3	55515673|55515673	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.910000|0.910000	0.53928|0.53928	2.200000|2.200000	0.42724|0.42724	1.540000|1.540000	0.49301|0.49301	0.460000|0.460000	0.39030|0.39030	CCA|TCC	-	NULL		0.672	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNC3	protein_coding	OTTHUMT00000314288.2	G	NM_004977	-		50823861	-1	no_errors	ENST00000477616	ensembl	human	known	74_37	missense	SNP	1.000	T
HRH2	3274	genome.wustl.edu	37	5	175112423	175112423	+	IGR	SNP	G	G	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr5:175112423G>T	ENST00000231683.2	+	0	3095				HRH2_ENST00000377291.2_Missense_Mutation_p.C363F	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2						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)	CCATGGCTTTGCCTTCCAGAA	0.423																																																	0								ENSG00000113749						146.0	123.0	130.0					5																	175112423		692	1591	2283	HRH2	SO:0001628	intergenic_variant	0			-	HGNC		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		5.37:g.175112423G>T		Somatic	0	25	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	45	16.67	B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt,prints_GPCR_Rhodpsn,prints_5HT6_rcpt	p.C363F	ENST00000231683.2	37	c.1088	CCDS4395.1	5	.	.	.	.	.	.	.	.	.	.	G	5.389	0.256967	0.10239	.	.	ENSG00000113749	ENST00000377291	T	0.64260	-0.09	2.77	0.909	0.19332	.	.	.	.	.	T	0.46502	0.1396	.	.	.	0.09310	N	1	B	0.16166	0.016	B	0.16289	0.015	T	0.39035	-0.9633	8	0.56958	D	0.05	.	5.1863	0.15185	0.2906:0.0:0.7094:0.0	.	363	Q7Z5R9	.	F	363	ENSP00000366506:C363F	ENSP00000366506:C363F	C	+	2	0	HRH2	175045029	0.006000	0.16342	0.009000	0.14445	0.636000	0.38137	0.612000	0.24283	0.223000	0.20920	0.491000	0.48974	TGC	-	NULL		0.423	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH2	protein_coding	OTTHUMT00000253151.1	G		-		175112423	+1	no_errors	ENST00000377291	ensembl	human	known	74_37	missense	SNP	0.009	T
DNAH11	8701	genome.wustl.edu	37	7	21788256	21788256	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr7:21788256G>T	ENST00000409508.3	+	52	8600	c.8569G>T	c.(8569-8571)Ggg>Tgg	p.G2857W	DNAH11_ENST00000328843.6_Missense_Mutation_p.G2864W	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2864	AAA 4. {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						GGTTGGAGTTGGGGGCAGTGG	0.547									Kartagener syndrome																																								0								ENSG00000105877						69.0	72.0	71.0					7																	21788256		1976	4156	6132	DNAH11	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	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.8569G>T	7.37:g.21788256G>T	ENSP00000475939:p.Gly2857Trp	Somatic	0	41	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	21	32.26	Q9UJ82	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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.G2864W	ENST00000409508.3	37	c.8590		7	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803399	0.70682	.	.	ENSG00000105877	ENST00000328843	T	0.40476	1.03	5.95	5.07	0.68467	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.044949	0.85682	D	0.000000	T	0.66645	0.2810	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72347	-0.4321	9	0.87932	D	0	.	14.8948	0.70636	0.0683:0.0:0.9317:0.0	.	2864	Q96DT5	DYH11_HUMAN	W	2864	ENSP00000330671:G2864W	ENSP00000330671:G2864W	G	+	1	0	DNAH11	21754781	1.000000	0.71417	0.882000	0.34594	0.470000	0.32858	9.716000	0.98752	1.516000	0.48900	0.650000	0.86243	GGG	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.547	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	protein_coding	OTTHUMT00000326582.6	G	NM_003777	-		21788256	+1	no_errors	ENST00000328843	ensembl	human	known	74_37	missense	SNP	0.999	T
CHD1	1105	genome.wustl.edu	37	5	98236915	98236915	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr5:98236915C>A	ENST00000284049.3	-	5	711	c.562G>T	c.(562-564)Gtc>Ttc	p.V188F		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	188					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CTGCTTTTGACTTTGTTTTTT	0.348																																																	0								ENSG00000153922						212.0	201.0	205.0					5																	98236915		2203	4300	6503	CHD1	SO:0001583	missense	0			-	HGNC	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.562G>T	5.37:g.98236915C>A	ENSP00000284049:p.Val188Phe	Somatic	0	52	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	103	8.04	Q17RZ3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.V188F	ENST00000284049.3	37	c.562	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323230	0.60634	.	.	ENSG00000153922	ENST00000284049;ENST00000540681	D	0.89939	-2.59	5.76	4.0	0.46444	.	0.000000	0.30639	U	0.009192	D	0.87059	0.6083	L	0.36672	1.1	0.48830	D	0.999713	D	0.56287	0.975	P	0.50754	0.649	D	0.86389	0.1734	10	0.56958	D	0.05	.	11.4402	0.50092	0.0:0.8762:0.0:0.1238	.	188	O14646	CHD1_HUMAN	F	188	ENSP00000284049:V188F	ENSP00000284049:V188F	V	-	1	0	CHD1	98264815	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.558000	0.45879	0.906000	0.36621	0.650000	0.86243	GTC	-	NULL		0.348	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	protein_coding	OTTHUMT00000370295.1	C	NM_001270	-		98236915	-1	no_errors	ENST00000284049	ensembl	human	known	74_37	missense	SNP	1.000	A
SDK2	54549	genome.wustl.edu	37	17	71443849	71443849	+	Missense_Mutation	SNP	G	G	A	rs370909712		TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr17:71443849G>A	ENST00000392650.3	-	5	518	c.518C>T	c.(517-519)aCg>aTg	p.T173M	SDK2_ENST00000388726.3_Missense_Mutation_p.T173M	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	173	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGGGGCCACCGTTGACAGGAT	0.567																																																	0								ENSG00000069188	G	MET/THR	1,1383		0,1,691	137.0	112.0	119.0		518	4.8	0.2	17		119	0,3182		0,0,1591	no	missense	SDK2	NM_001144952.1	81	0,1,2282	AA,AG,GG		0.0,0.0723,0.0219	possibly-damaging	173/2173	71443849	1,4565	692	1591	2283	SDK2	SO:0001583	missense	0			-	HGNC	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.518C>T	17.37:g.71443849G>A	ENSP00000376421:p.Thr173Met	Somatic	0	61	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	60	30.23	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T173M	ENST00000392650.3	37	c.518	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902667	0.33628	7.23E-4	0.0	ENSG00000069188	ENST00000392650;ENST00000388726;ENST00000316893	T;T	0.66995	-0.24;-0.24	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.083553	0.47093	U	0.000259	T	0.67896	0.2942	M	0.83384	2.64	0.19775	N	0.999958	P	0.48230	0.907	B	0.39617	0.305	T	0.70223	-0.4931	10	0.87932	D	0	.	13.2406	0.59995	0.0:0.1597:0.8402:0.0	.	173	Q58EX2	SDK2_HUMAN	M	173	ENSP00000376421:T173M;ENSP00000373378:T173M	ENSP00000324967:T173M	T	-	2	0	SDK2	68955444	1.000000	0.71417	0.186000	0.23195	0.693000	0.40251	4.222000	0.58580	2.220000	0.72140	0.313000	0.20887	ACG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.567	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	protein_coding	OTTHUMT00000327598.2	G	NM_019064	-		71443849	-1	no_errors	ENST00000392650	ensembl	human	known	74_37	missense	SNP	0.193	A
F5	2153	genome.wustl.edu	37	1	169510185	169510185	+	Silent	SNP	C	C	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr1:169510185C>T	ENST00000367797.3	-	13	4344	c.4143G>A	c.(4141-4143)caG>caA	p.Q1381Q	F5_ENST00000367796.3_Silent_p.Q1386Q	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1381	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AAAGGTTTGTCTGACTGAGTT	0.537																																																	0								ENSG00000198734						146.0	162.0	156.0					1																	169510185		2203	4300	6503	F5	SO:0001819	synonymous_variant	0			-	HGNC	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4143G>A	1.37:g.169510185C>T		Somatic	0	152	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	69	10.39	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.Q1381	ENST00000367797.3	37	c.4143	CCDS1281.1	1																																																																																			-	NULL		0.537	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	protein_coding	OTTHUMT00000083712.1	C	NM_000130	-		169510185	-1	no_errors	ENST00000367797	ensembl	human	known	74_37	silent	SNP	0.028	T
OVCH1	341350	genome.wustl.edu	37	12	29592359	29592359	+	Missense_Mutation	SNP	C	C	T	rs145438752	byFrequency	TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr12:29592359C>T	ENST00000318184.5	-	26	3165	c.3166G>A	c.(3166-3168)Gct>Act	p.A1056T	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	1056						extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					agagttccagcgaatgaagct	0.299																																																	0								ENSG00000187950						68.0	61.0	64.0					12																	29592359		1824	4070	5894	OVCH1	SO:0001583	missense	0			-	HGNC	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.3166G>A	12.37:g.29592359C>T	ENSP00000326708:p.Ala1056Thr	Somatic	0	32	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	10	28.57		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A1056T	ENST00000318184.5	37	c.3166		12	.	.	.	.	.	.	.	.	.	.	C	3.541	-0.093725	0.07053	.	.	ENSG00000187950	ENST00000318184	T	0.33654	1.4	0.427	-0.633	0.11519	CUB (2);	.	.	.	.	T	0.16128	0.0388	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.17653	-1.0362	8	0.51188	T	0.08	.	.	.	.	.	1056	Q7RTY7	OVCH1_HUMAN	T	1056	ENSP00000326708:A1056T	ENSP00000326708:A1056T	A	-	1	0	OVCH1	29483626	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-0.157000	0.10085	-0.449000	0.07117	-0.444000	0.05651	GCT	-	superfamily_CUB_dom		0.299	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	OVCH1	protein_coding	OTTHUMT00000395997.2	C	NM_183378	-		29592359	-1	no_errors	ENST00000318184	ensembl	human	known	74_37	missense	SNP	0.005	T
DGKG	1608	genome.wustl.edu	37	3	185979537	185979537	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr3:185979537G>T	ENST00000265022.3	-	15	1839	c.1300C>A	c.(1300-1302)Ccc>Acc	p.P434T	DGKG_ENST00000344484.4_Missense_Mutation_p.P434T|DGKG_ENST00000544847.1_Missense_Mutation_p.P375T|DGKG_ENST00000382164.4_Missense_Mutation_p.P395T	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	434	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ACCAGCAGGGGGTGGGTACCC	0.502																																																	0								ENSG00000058866						24.0	22.0	22.0					3																	185979537		2203	4300	6503	DGKG	SO:0001583	missense	0			-	HGNC	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1300C>A	3.37:g.185979537G>T	ENSP00000265022:p.Pro434Thr	Somatic	0	18	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	32	17.95	B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.P434T	ENST00000265022.3	37	c.1300	CCDS3274.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.089601	0.94149	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	T;T;T;T	0.44881	0.92;0.91;0.92;0.92	5.52	5.52	0.82312	Diacylglycerol kinase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.78149	0.4238	H	0.97291	3.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.86117	0.1566	10	0.87932	D	0	.	18.2113	0.89871	0.0:0.0:1.0:0.0	.	375;434;395;434	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	T	434;434;395;375;398	ENSP00000265022:P434T;ENSP00000339777:P434T;ENSP00000371599:P395T;ENSP00000440507:P375T	ENSP00000265022:P434T	P	-	1	0	DGKG	187462231	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.706000	0.98722	2.590000	0.87494	0.563000	0.77884	CCC	-	smart_Diacylglycerol_kinase_cat_dom		0.502	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKG	protein_coding	OTTHUMT00000344800.3	G		-		185979537	-1	no_errors	ENST00000265022	ensembl	human	known	74_37	missense	SNP	1.000	T
SLC1A6	6511	genome.wustl.edu	37	19	15083667	15083667	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr19:15083667C>T	ENST00000221742.3	-	1	63	c.56G>A	c.(55-57)cGg>cAg	p.R19Q	SLC1A6_ENST00000598504.1_Missense_Mutation_p.R19Q|SLC1A6_ENST00000544886.2_Missense_Mutation_p.R19Q|SLC1A6_ENST00000430939.2_Silent_p.P23P|SLC1A6_ENST00000600144.1_Missense_Mutation_p.R19Q	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	19					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						CCAGCCCACCCGGCCCAGCCG	0.677																																																	0								ENSG00000105143						7.0	8.0	8.0					19																	15083667		1929	3841	5770	SLC1A6	SO:0001583	missense	0			-	HGNC		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.56G>A	19.37:g.15083667C>T	ENSP00000221742:p.Arg19Gln	Somatic	0	10	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	9	55.00	Q8N753	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.R19Q	ENST00000221742.3	37	c.56	CCDS12321.1	19	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541573	0.27563	.	.	ENSG00000105143	ENST00000221742;ENST00000544886;ENST00000542610	T;T	0.55234	0.53;1.26	4.25	1.94	0.25998	.	1.075590	0.07237	N	0.863609	T	0.25791	0.0628	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.15141	0.002;0.012;0.004	B;B;B	0.08055	0.001;0.003;0.001	T	0.22068	-1.0227	10	0.10902	T	0.67	-0.7962	6.5908	0.22646	0.2079:0.5909:0.2012:0.0	.	19;20;19	Q8N753;Q59GB0;P48664	.;.;EAA4_HUMAN	Q	19;19;20	ENSP00000221742:R19Q;ENSP00000446175:R19Q	ENSP00000221742:R19Q	R	-	2	0	SLC1A6	14944667	0.000000	0.05858	0.407000	0.26434	0.894000	0.52154	0.768000	0.26590	0.357000	0.24183	0.313000	0.20887	CGG	-	NULL		0.677	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC1A6	protein_coding	OTTHUMT00000466283.1	C	NM_005071	-		15083667	-1	no_errors	ENST00000221742	ensembl	human	known	74_37	missense	SNP	0.022	T
CCDC173	129881	genome.wustl.edu	37	2	170502675	170502675	+	Missense_Mutation	SNP	A	A	C	rs530914711	byFrequency	TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr2:170502675A>C	ENST00000447353.1	-	9	1440	c.1335T>G	c.(1333-1335)aaT>aaG	p.N445K		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	445																	CTTGCTTTGCATTAAACTTAT	0.323																																																	0								ENSG00000154479						183.0	179.0	180.0					2																	170502675		1819	4075	5894	CCDC173	SO:0001583	missense	0			-	HGNC	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1335T>G	2.37:g.170502675A>C	ENSP00000391504:p.Asn445Lys	Somatic	0	79	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	44	29.03	Q6PJF6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.N445K	ENST00000447353.1	37	c.1335	CCDS46445.1	2	.	.	.	.	.	.	.	.	.	.	A	0.246	-1.010242	0.02095	.	.	ENSG00000154479	ENST00000447353	T	0.07688	3.17	5.72	0.103	0.14526	.	.	.	.	.	T	0.03608	0.0103	N	0.21194	0.64	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.45160	-0.9280	9	0.05833	T	0.94	.	0.3693	0.00376	0.3239:0.212:0.1401:0.324	.	445	Q0VFZ6	CB077_HUMAN	K	445	ENSP00000391504:N445K	ENSP00000391504:N445K	N	-	3	2	C2orf77	170210921	0.009000	0.17119	0.590000	0.28732	0.909000	0.53808	0.024000	0.13555	-0.146000	0.11274	-0.250000	0.11733	AAT	-	NULL		0.323	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC173	protein_coding	OTTHUMT00000333954.2	A	NM_001085447	-		170502675	-1	no_errors	ENST00000447353	ensembl	human	known	74_37	missense	SNP	0.084	C
ZNF831	128611	genome.wustl.edu	37	20	57766916	57766916	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr20:57766916A>T	ENST00000371030.2	+	1	842	c.842A>T	c.(841-843)gAc>gTc	p.D281V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	281							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCTCCTTGGGACTCTGCCCCC	0.667																																																	0								ENSG00000124203						51.0	59.0	56.0					20																	57766916		2023	4181	6204	ZNF831	SO:0001583	missense	0			-	HGNC	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.842A>T	20.37:g.57766916A>T	ENSP00000360069:p.Asp281Val	Somatic	0	93	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	62	108	36.47	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D281V	ENST00000371030.2	37	c.842	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	A	7.926	0.739660	0.15642	.	.	ENSG00000124203	ENST00000371030	T	0.04809	3.55	5.12	2.82	0.32997	.	.	.	.	.	T	0.07683	0.0193	L	0.51422	1.61	0.09310	N	0.999995	D	0.56035	0.974	P	0.48982	0.597	T	0.29488	-1.0010	9	0.52906	T	0.07	-8.1128	5.049	0.14499	0.6687:0.1568:0.1745:0.0	.	281	Q5JPB2	ZN831_HUMAN	V	281	ENSP00000360069:D281V	ENSP00000360069:D281V	D	+	2	0	ZNF831	57200311	0.000000	0.05858	0.045000	0.18777	0.027000	0.11550	-0.056000	0.11787	0.282000	0.22254	0.533000	0.62120	GAC	-	NULL		0.667	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	protein_coding	OTTHUMT00000079916.2	A	NM_178457	-		57766916	+1	no_errors	ENST00000371030	ensembl	human	novel	74_37	missense	SNP	0.000	T
REXO4	57109	genome.wustl.edu	37	9	136272155	136272155	+	Silent	SNP	C	C	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr9:136272155C>T	ENST00000371942.3	-	8	1390	c.1191G>A	c.(1189-1191)gtG>gtA	p.V397V	REXO4_ENST00000371935.2_Silent_p.V225V	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	397					regulation of transcription, DNA-templated (GO:0006355)	nucleolus (GO:0005730)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		ACTCCTTCTTCACCATGACGT	0.607											OREG0019587	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000148300						168.0	127.0	141.0					9																	136272155		2203	4300	6503	REXO4	SO:0001819	synonymous_variant	0			-	HGNC	AF273304	CCDS6969.1, CCDS65179.1	9q34	2008-02-05	2005-08-22	2005-08-22	ENSG00000148300	ENSG00000148300			12820	protein-coding gene	gene with protein product		602930	"""Xenopus prevents mitotic catatrophe 2 homolog"", ""XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)"""	XPMC2H		9325058	Standard	NM_020385		Approved		uc004cdm.3	Q9GZR2	OTTHUMG00000020870	ENST00000371942.3:c.1191G>A	9.37:g.136272155C>T		Somatic	0	51	0.00	1624	0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	71	53	57.26	B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.V397	ENST00000371942.3	37	c.1191	CCDS6969.1	9	.	.	.	.	.	.	.	.	.	.	C	13.50	2.255185	0.39896	.	.	ENSG00000148300	ENST00000453165	T	0.21932	1.98	5.45	1.2	0.21068	.	.	.	.	.	T	0.25344	0.0616	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07712	-1.0758	6	0.87932	D	0	.	3.1641	0.06530	0.1419:0.5673:0.1373:0.1535	.	.	.	.	K	353	ENSP00000403272:E353K	ENSP00000403272:E353K	E	-	1	0	REXO4	135261976	0.994000	0.37717	0.975000	0.42487	0.764000	0.43329	0.353000	0.20130	0.231000	0.21079	0.561000	0.74099	GAA	-	superfamily_RNaseH-like_dom,smart_Exonuclease		0.607	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO4	protein_coding	OTTHUMT00000054899.1	C		-		136272155	-1	no_errors	ENST00000371942	ensembl	human	known	74_37	silent	SNP	1.000	T
N4BP1	9683	genome.wustl.edu	37	16	48595677	48595677	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr16:48595677delT	ENST00000262384.3	-	2	1113	c.877delA	c.(877-879)aggfs	p.R293fs	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	293					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TTCGTATGCCTTTCTTCAGAA	0.393																																																	0								ENSG00000102921						87.0	84.0	85.0					16																	48595677		1832	4085	5917	N4BP1	SO:0001589	frameshift_variant	0				HGNC	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.877delA	16.37:g.48595677delT	ENSP00000262384:p.Arg293fs	Somatic	0	35	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	10	16.67	A7MD49|Q2YDX1	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_RNase_Zc3h12	p.R293fs	ENST00000262384.3	37	c.877	CCDS45479.1	16																																																																																			-	NULL		0.393	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP1	protein_coding	OTTHUMT00000429920.1	T	NM_014664			48595677	-1	no_errors	ENST00000262384	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
PAX4	5078	genome.wustl.edu	37	7	127253883	127253883	+	Silent	SNP	C	C	A			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr7:127253883C>A	ENST00000341640.2	-	4	670	c.465G>T	c.(463-465)cgG>cgT	p.R155R	PAX4_ENST00000338516.3_Silent_p.R163R|PAX4_ENST00000378740.2_Silent_p.R155R|PAX4_ENST00000463946.1_Silent_p.R153R	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	163					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGTGGGTACCCCGGGGAGTCT	0.572																																					Ovarian(113;737 1605 7858 27720 34092)												0								ENSG00000106331						71.0	68.0	69.0					7																	127253883		2203	4300	6503	PAX4	SO:0001819	synonymous_variant	0			-	HGNC		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.465G>T	7.37:g.127253883C>A		Somatic	0	53	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	78	19.59	O95161|Q6B0H0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom	p.R155	ENST00000341640.2	37	c.465	CCDS5797.1	7																																																																																			-	superfamily_Homeodomain-like		0.572	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAX4	protein_coding	OTTHUMT00000349165.1	C		-		127253883	-1	no_errors	ENST00000341640	ensembl	human	known	74_37	silent	SNP	0.998	A
RNFT2	84900	genome.wustl.edu	37	12	117290182	117290183	+	3'UTR	INS	-	-	TTCCCC	rs140709252|rs71099009|rs201262887	byFrequency	TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr12:117290182_117290183insTTCCCC	ENST00000392549.2	+	0	1644_1645				RNFT2_ENST00000319176.7_3'UTR|RNFT2_ENST00000551251.1_3'UTR|RNFT2_ENST00000407967.3_Intron	NM_001109903.1	NP_001103373.1	Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		AAACCAGGACTTTCCCCTTGGC	0.564														2254	0.45008	0.0386	0.7738	5008	,	,		20897	0.4732		0.7296	False		,,,				2504	0.4652																0								ENSG00000135119																																			RNFT2	SO:0001624	3_prime_UTR_variant	0				HGNC	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"""RING-type (C3HC4) zinc fingers"""	25905	protein-coding gene	gene with protein product			"""transmembrane protein 118"""	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000392549.2:c.*77->TTCCCC	12.37:g.117290183_117290188dupTTCCCC		Somatic	NA	NA	NA		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	E9PAM7|Q96SU5	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000392549.2	37	NULL	CCDS44987.1	12																																																																																			-	-		0.564	RNFT2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RNFT2	protein_coding		-	NM_032814			117290183	+1	no_errors	ENST00000551251	ensembl	human	known	74_37	rna	INS	0.014:0.009	TTCCCC
RER1	11079	genome.wustl.edu	37	1	2332374	2332374	+	Splice_Site	SNP	G	G	C			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr1:2332374G>C	ENST00000605895.1	+	5	498	c.365G>C	c.(364-366)tGg>tCg	p.W122S	RER1_ENST00000378513.3_Splice_Site_p.G89R|RER1_ENST00000378518.1_Splice_Site_p.G89R|RER1_ENST00000488353.1_Splice_Site_p.W122S|RER1_ENST00000378512.1_Splice_Site_p.W122S	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	122					positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)	cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		TTTAAATTTTGGTGAGCTAAT	0.463																																																	0								ENSG00000157916						89.0	89.0	89.0					1																	2332374		1859	4094	5953	RER1	SO:0001630	splice_region_variant	0			-	HGNC	AF157324	CCDS41232.1	1p36	2013-10-18	2013-10-18		ENSG00000157916	ENSG00000157916			30309	protein-coding gene	gene with protein product			"""RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae)"""			9309388, 17668005	Standard	NM_007033		Approved		uc001aje.2	O15258	OTTHUMG00000001403	ENST00000605895.1:c.365+1G>C	1.37:g.2332374G>C		Somatic	0	59	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	47	42.17	O95322	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Rer1,pirsf_Rer1	p.W122S	ENST00000605895.1	37	c.365	CCDS41232.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.188387|4.188387	0.78789|0.78789	.|.	.|.	ENSG00000157916|ENSG00000157916	ENST00000378518;ENST00000378513|ENST00000306256;ENST00000434662;ENST00000378512;ENST00000443438	.|.	.|.	.|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.000000	.|0.40554	.|U	.|0.001072	D|D	0.90373|0.90373	0.6987|0.6987	H|H	0.97758|0.97758	4.07|4.07	0.42761|0.42761	D|D	0.993802|0.993802	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.93521|0.93521	0.6861|0.6861	6|9	0.35671|0.87932	T|D	0.21|0	.|.	18.7848|18.7848	0.91949|0.91949	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|122;122	.|Q5T091;O15258	.|.;RER1_HUMAN	R|S	89|122	.|.	ENSP00000367774:G89R|ENSP00000302088:W122S	G|W	+|+	1|2	0|0	RER1|RER1	2322234|2322234	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.832000|8.832000	0.92079|0.92079	2.670000|2.670000	0.90874|0.90874	0.655000|0.655000	0.94253|0.94253	GGC|TGG	-	pfam_Rer1,pirsf_Rer1		0.463	RER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RER1	protein_coding	OTTHUMT00000004061.2	G		-	Missense_Mutation	2332374	+1	no_errors	ENST00000488353	ensembl	human	known	74_37	missense	SNP	1.000	C
C5orf42	65250	genome.wustl.edu	37	5	37227105	37227105	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr5:37227105C>G	ENST00000508244.1	-	11	1685	c.1592G>C	c.(1591-1593)aGa>aCa	p.R531T	C5orf42_ENST00000274258.7_5'UTR|C5orf42_ENST00000425232.2_Missense_Mutation_p.R531T			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	531						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CACATCATCTCTTTTGTTCCA	0.368																																																	0								ENSG00000197603						27.0	20.0	22.0					5																	37227105		691	1590	2281	C5orf42	SO:0001583	missense	0			-	HGNC		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.1592G>C	5.37:g.37227105C>G	ENSP00000421690:p.Arg531Thr	Somatic	0	30	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	41	14.58	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_Quino_amine_DH_bsu	p.R531T	ENST00000508244.1	37	c.1592	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	C	3.687	-0.064334	0.07273	.	.	ENSG00000197603	ENST00000508244;ENST00000425232	T;T	0.23147	1.92;1.92	4.63	2.16	0.27623	.	0.385392	0.24209	U	0.040543	T	0.12860	0.0312	N	0.14661	0.345	0.09310	N	0.999996	B	0.32160	0.358	B	0.29716	0.106	T	0.15263	-1.0443	10	0.54805	T	0.06	.	6.5825	0.22602	0.0:0.397:0.0:0.603	.	531	E9PH94	.	T	531	ENSP00000421690:R531T;ENSP00000389014:R531T	ENSP00000389014:R531T	R	-	2	0	C5orf42	37262862	0.355000	0.24921	0.000000	0.03702	0.579000	0.36224	1.221000	0.32503	0.160000	0.19432	0.313000	0.20887	AGA	-	NULL		0.368	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	protein_coding	OTTHUMT00000360806.1	C	NM_023073	-		37227105	-1	no_errors	ENST00000425232	ensembl	human	known	74_37	missense	SNP	0.001	G
MAB21L1	4081	genome.wustl.edu	37	13	36050223	36050223	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr13:36050223T>A	ENST00000379919.4	-	1	609	c.53A>T	c.(52-54)gAa>gTa	p.E18V	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	18					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TTGGCATTTTTCGTTGTAGTA	0.517																																																	0								ENSG00000180660						79.0	84.0	82.0					13																	36050223		2203	4300	6503	MAB21L1	SO:0001583	missense	0			-	HGNC	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.53A>T	13.37:g.36050223T>A	ENSP00000369251:p.Glu18Val	Somatic	0	70	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	56	8.20	Q6I9T5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Mab-21_dom	p.E18V	ENST00000379919.4	37	c.53	CCDS9353.1	13	.	.	.	.	.	.	.	.	.	.	T	15.53	2.860555	0.51482	.	.	ENSG00000180660	ENST00000379919	T	0.21932	1.98	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.38983	0.1061	M	0.74258	2.255	0.80722	D	1	P	0.37176	0.586	P	0.47941	0.562	T	0.11867	-1.0570	10	0.44086	T	0.13	-1.4531	16.0659	0.80870	0.0:0.0:0.0:1.0	.	18	Q13394	MB211_HUMAN	V	18	ENSP00000369251:E18V	ENSP00000369251:E18V	E	-	2	0	MAB21L1	34948223	1.000000	0.71417	0.968000	0.41197	0.989000	0.77384	8.040000	0.89188	2.209000	0.71365	0.533000	0.62120	GAA	-	pfam_Mab-21_dom		0.517	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L1	protein_coding	OTTHUMT00000044459.3	T	NM_005584	-		36050223	-1	no_errors	ENST00000379919	ensembl	human	known	74_37	missense	SNP	1.000	A
TLR1	7096	genome.wustl.edu	37	4	38798892	38798892	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr4:38798892C>A	ENST00000502213.2	-	3	1790	c.1561G>T	c.(1561-1563)Gca>Tca	p.A521S	TLR1_ENST00000510552.1_5'Flank|TLR1_ENST00000308979.2_Missense_Mutation_p.A521S			Q15399	TLR1_HUMAN	toll-like receptor 1	521					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTGTCCCCTGCTTTTATTGAC	0.428																																					GBM(5;216 373 40795 46382)												0								ENSG00000174125						194.0	202.0	199.0					4																	38798892		2203	4300	6503	TLR1	SO:0001583	missense	0			-	HGNC	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1561G>T	4.37:g.38798892C>A	ENSP00000421259:p.Ala521Ser	Somatic	0	98	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	99	11.61	D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.A521S	ENST00000502213.2	37	c.1561	CCDS33973.1	4	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479150	0.63849	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	T;T	0.18810	2.19;2.19	4.75	4.75	0.60458	.	0.000000	0.64402	D	0.000005	T	0.41096	0.1144	M	0.89287	3.02	0.42647	D	0.993434	D	0.61080	0.989	P	0.47251	0.542	T	0.58222	-0.7674	10	0.87932	D	0	.	18.3059	0.90180	0.0:1.0:0.0:0.0	.	521	Q15399	TLR1_HUMAN	S	521	ENSP00000354932:A521S;ENSP00000421259:A521S	ENSP00000354932:A521S	A	-	1	0	TLR1	38475287	0.999000	0.42202	0.759000	0.31340	0.919000	0.55068	4.579000	0.60936	2.636000	0.89361	0.650000	0.86243	GCA	-	pirsf_Toll-like_receptor		0.428	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR1	protein_coding	OTTHUMT00000360510.3	C		-		38798892	-1	no_errors	ENST00000308979	ensembl	human	known	74_37	missense	SNP	0.887	A
LOC284788	284788	genome.wustl.edu	37	20	22381195	22381195	+	lincRNA	SNP	G	G	A			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr20:22381195G>A	ENST00000377121.1	-	0	1459					NR_027089.1																						gccatggtgtggtatacatca	0.428																																																	0								ENSG00000204684																																			RP5-1004I9.1			0			-	Clone_based_vega_gene																													20.37:g.22381195G>A		Somatic	0	116	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	36	23.40		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000377121.1	37	NULL		20																																																																																			-	-		0.428	RP5-1004I9.1-001	KNOWN	basic	lincRNA	LOC284788	lincRNA	OTTHUMT00000078288.2	G		-		22381195	-1	no_errors	ENST00000377121	ensembl	human	known	74_37	rna	SNP	0.000	A
TRPM8	79054	genome.wustl.edu	37	2	234875370	234875370	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr2:234875370C>A	ENST00000324695.4	+	15	2036	c.1996C>A	c.(1996-1998)Cag>Aag	p.Q666K	TRPM8_ENST00000433712.2_Missense_Mutation_p.Q354K	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	666					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GGCCACAGACCAGCATTTCAT	0.547																																																	0								ENSG00000144481						81.0	72.0	75.0					2																	234875370		2203	4300	6503	TRPM8	SO:0001583	missense	0			-	HGNC	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1996C>A	2.37:g.234875370C>A	ENSP00000323926:p.Gln666Lys	Somatic	0	40	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ion_trans_dom	p.Q666K	ENST00000324695.4	37	c.1996	CCDS33407.1	2	.	.	.	.	.	.	.	.	.	.	C	4.804	0.149487	0.09185	.	.	ENSG00000144481	ENST00000324695;ENST00000433712;ENST00000456930	T;T;T	0.58506	0.33;0.33;0.33	5.61	4.72	0.59763	.	0.103207	0.44285	D	0.000477	T	0.43612	0.1255	N	0.21240	0.645	0.38868	D	0.956628	B;B	0.23377	0.011;0.084	B;B	0.19148	0.005;0.024	T	0.34976	-0.9807	10	0.28530	T	0.3	-17.0901	14.9282	0.70896	0.1443:0.8557:0.0:0.0	.	354;666	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	K	666;354;37	ENSP00000323926:Q666K;ENSP00000404423:Q354K;ENSP00000414198:Q37K	ENSP00000323926:Q666K	Q	+	1	0	TRPM8	234540109	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.924000	0.48876	1.479000	0.48272	-0.182000	0.12963	CAG	-	NULL		0.547	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	protein_coding	OTTHUMT00000131005.4	C	NM_024080	-		234875370	+1	no_errors	ENST00000324695	ensembl	human	known	74_37	missense	SNP	1.000	A
EXOSC2	23404	genome.wustl.edu	37	9	133573185	133573186	+	Intron	INS	-	-	T	rs369300595		TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr9:133573185_133573186insT	ENST00000372358.5	+	3	341				EXOSC2_ENST00000546165.1_Intron|EXOSC2_ENST00000372351.3_Intron|EXOSC2_ENST00000372352.3_Intron			Q13868	EXOS2_HUMAN	exosome component 2						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|7S RNA binding (GO:0008312)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)		OV - Ovarian serous cystadenocarcinoma(145;0.000324)		ACTGGTTCATGttttttttttt	0.455																																					Pancreas(134;1683 1824 10118 27928 31640)												0								ENSG00000130713																																			EXOSC2	SO:0001627	intron_variant	0				HGNC	AK001916	CCDS6935.1, CCDS65160.1, CCDS65161.1	9q34	2008-02-05			ENSG00000130713	ENSG00000130713			17097	protein-coding gene	gene with protein product	"""homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4)"""	602238				8600032, 1538749	Standard	XM_005272176		Approved	hRrp4p, Rrp4p, RRP4, p7	uc004bzu.2	Q13868	OTTHUMG00000020811	ENST00000372358.5:c.270+171->T	9.37:g.133573196_133573196dupT		Somatic	0	12	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	13	23.53	A3KFL3|B4DKK6|Q9NUY4	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000372358.5	37	NULL	CCDS6935.1	9																																																																																			-	-		0.455	EXOSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC2	protein_coding	OTTHUMT00000054673.1	-	NM_014285			133573186	+1	no_errors	ENST00000430138	ensembl	human	known	74_37	rna	INS	0.000:0.001	T
CCDC178	374864	genome.wustl.edu	37	18	30928934	30928934	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr18:30928934C>A	ENST00000383096.3	-	8	559	c.377G>T	c.(376-378)aGa>aTa	p.R126I	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Missense_Mutation_p.R126I|CCDC178_ENST00000403303.1_Missense_Mutation_p.R126I|CCDC178_ENST00000402325.1_Missense_Mutation_p.R126I|CCDC178_ENST00000579947.1_Missense_Mutation_p.R126I|CCDC178_ENST00000406524.2_Missense_Mutation_p.R126I|CCDC178_ENST00000583930.1_Missense_Mutation_p.R126I			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	126																	GGAAGAAGTTCTGCTCCTATA	0.343																																																	0								ENSG00000166960						128.0	111.0	117.0					18																	30928934		2202	4300	6502	CCDC178	SO:0001583	missense	0			-	HGNC	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.377G>T	18.37:g.30928934C>A	ENSP00000372576:p.Arg126Ile	Somatic	0	31	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	26	33.33	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.R126I	ENST00000383096.3	37	c.377	CCDS42424.1	18	.	.	.	.	.	.	.	.	.	.	C	7.978	0.750544	0.15778	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.48836	2.37;2.37;2.37;2.37;2.37;0.8	4.3	0.368	0.16146	.	.	.	.	.	T	0.33760	0.0874	L	0.48642	1.525	0.09310	N	1	B;B;B;B	0.32031	0.352;0.041;0.112;0.112	B;B;B;B	0.29176	0.099;0.046;0.028;0.028	T	0.23154	-1.0196	9	0.45353	T	0.12	-0.359	3.1622	0.06524	0.2399:0.517:0.1491:0.094	.	126;126;126;126	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	I	126	ENSP00000385591:R126I;ENSP00000372576:R126I;ENSP00000300227:R126I;ENSP00000385867:R126I;ENSP00000385234:R126I;ENSP00000382130:R126I	ENSP00000300227:R126I	R	-	2	0	C18orf34	29182932	0.000000	0.05858	0.001000	0.08648	0.198000	0.23893	-0.136000	0.10405	0.051000	0.15978	0.591000	0.81541	AGA	-	NULL		0.343	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC178	protein_coding	OTTHUMT00000255373.2	C	NM_198995	-		30928934	-1	no_errors	ENST00000406524	ensembl	human	known	74_37	missense	SNP	0.005	A
STRADB	55437	genome.wustl.edu	37	2	202344886	202344886	+	Silent	SNP	C	C	T	rs146098224		TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr2:202344886C>T	ENST00000194530.3	+	12	1610	c.1245C>T	c.(1243-1245)taC>taT	p.Y415Y	STRADB_ENST00000392249.2_3'UTR	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	415					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						AAGACTCATACTGGGAATTCT	0.393																																																	0								ENSG00000082146						134.0	136.0	135.0					2																	202344886		2203	4300	6503	STRADB	SO:0001819	synonymous_variant	0			-	HGNC	AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.1245C>T	2.37:g.202344886C>T		Somatic	0	40	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	56	13.85	Q5BKY7|Q9P1L0	Silent	SNP	NA	NA	NA	NA	NA	NA	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.Y415	ENST00000194530.3	37	c.1245	CCDS2348.1	2																																																																																			-	NULL		0.393	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRADB	protein_coding	OTTHUMT00000256297.1	C	NM_018571	rs146098224		202344886	+1	no_errors	ENST00000194530	ensembl	human	known	74_37	silent	SNP	0.437	T
CHAT	1103	genome.wustl.edu	37	10	50827797	50827797	+	Silent	SNP	G	G	A	rs199675090		TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr10:50827797G>A	ENST00000337653.2	+	3	567	c.414G>A	c.(412-414)ccG>ccA	p.P138P	CHAT_ENST00000351556.3_Silent_p.P20P|CHAT_ENST00000395562.2_Silent_p.P56P|CHAT_ENST00000455728.2_Silent_p.P20P|CHAT_ENST00000339797.1_Silent_p.P20P|CHAT_ENST00000395559.2_Silent_p.P20P|CHAT_ENST00000460699.1_3'UTR	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	138					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CCGTGCCCCCGCTGCAGCAGA	0.607																																																	0								ENSG00000070748	G	,,,,,,	1,4405	2.1+/-5.4	0,1,2202	51.0	42.0	45.0		60,168,60,414,60,60,60	-10.2	0.0	10		45	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CHAT	NM_001142929.1,NM_001142933.1,NM_001142934.1,NM_020549.4,NM_020984.3,NM_020985.3,NM_020986.3	,,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,,	20/631,56/667,20/631,138/749,20/631,20/631,20/631	50827797	1,13005	2203	4300	6503	CHAT	SO:0001819	synonymous_variant	0			-	HGNC	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.414G>A	10.37:g.50827797G>A		Somatic	0	40	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	48	27.27	A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Carn_acyl_trans	p.P138	ENST00000337653.2	37	c.414	CCDS7232.1	10																																																																																			-	pfam_Carn_acyl_trans		0.607	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHAT	protein_coding	OTTHUMT00000047997.1	G	NM_020549	rs199675090		50827797	+1	no_errors	ENST00000337653	ensembl	human	known	74_37	silent	SNP	0.008	A
APOB	338	genome.wustl.edu	37	2	21249769	21249769	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr2:21249769G>T	ENST00000233242.1	-	15	2262	c.2135C>A	c.(2134-2136)cCa>cAa	p.P712Q	APOB_ENST00000399256.4_Missense_Mutation_p.P712Q	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	712					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)					GACACTGTCTGGGAAAAATCC	0.413																																																	0								ENSG00000084674						112.0	110.0	110.0					2																	21249769		2203	4300	6503	APOB	SO:0001583	missense	0			-	HGNC	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.2135C>A	2.37:g.21249769G>T	ENSP00000233242:p.Pro712Gln	Somatic	0	11	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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.P712Q	ENST00000233242.1	37	c.2135	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	G	29.4	4.998824	0.93227	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.14266	2.52;2.52	5.7	5.7	0.88788	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);	0.068340	0.64402	D	0.000015	T	0.44767	0.1309	M	0.82923	2.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.37220	-0.9715	10	0.66056	D	0.02	.	20.2246	0.98337	0.0:0.0:1.0:0.0	.	712	P04114	APOB_HUMAN	Q	712	ENSP00000233242:P712Q;ENSP00000382200:P712Q	ENSP00000233242:P712Q	P	-	2	0	APOB	21103274	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.406000	0.97321	2.861000	0.98227	0.655000	0.94253	CCA	-	pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell		0.413	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	G		-		21249769	-1	no_errors	ENST00000233242	ensembl	human	known	74_37	missense	SNP	1.000	T
NLRP4	147945	genome.wustl.edu	37	19	56369584	56369584	+	Silent	SNP	G	G	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr19:56369584G>T	ENST00000301295.6	+	3	1247	c.825G>T	c.(823-825)ctG>ctT	p.L275L	NLRP4_ENST00000346986.5_Silent_p.L275L|NLRP4_ENST00000587891.1_Silent_p.L200L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	275	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGGCCTCCCTGCTCATCGCTA	0.562																																																	0								ENSG00000160505						67.0	74.0	72.0					19																	56369584		2203	4300	6503	NLRP4	SO:0001819	synonymous_variant	0			-	HGNC	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.825G>T	19.37:g.56369584G>T		Somatic	0	61	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	80	9.09	Q86W87|Q96AY6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L275	ENST00000301295.6	37	c.825	CCDS12936.1	19																																																																																			-	superfamily_P-loop_NTPase,pfscan_NACHT_NTPase		0.562	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	protein_coding	OTTHUMT00000457367.2	G	NM_134444	-		56369584	+1	no_errors	ENST00000301295	ensembl	human	known	74_37	silent	SNP	0.965	T
NOP56	10528	genome.wustl.edu	37	20	2637331	2637331	+	Intron	SNP	G	G	C			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr20:2637331G>C	ENST00000329276.5	+	10	1675				SNORA51_ENST00000606420.1_RNA|SNORD57_ENST00000448188.1_RNA|SNORD56_ENST00000413522.1_RNA|SNORD110_ENST00000408189.1_RNA|IDH3B_ENST00000488299.1_5'Flank|NOP56_ENST00000492135.1_Intron|SNORD86_ENST00000391196.1_RNA	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						GAGACTCTGGGTCTGAGTGAA	0.537																																																	0								ENSG00000229686						101.0	97.0	98.0					20																	2637331		876	1991	2867	SNORD56	SO:0001627	intron_variant	0			-	HGNC	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.1160-89G>C	20.37:g.2637331G>C		Somatic	0	82	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	95	10.38	Q2M3T6|Q9NQ05	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000329276.5	37	NULL	CCDS13030.1	20																																																																																			-	-		0.537	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORD56	protein_coding	OTTHUMT00000077631.2	G	NM_006392	-		2637331	+1	no_errors	ENST00000413522	ensembl	human	known	74_37	rna	SNP	1.000	C
MATN3	4148	genome.wustl.edu	37	2	20205563	20205563	+	Silent	SNP	G	G	A	rs371740669		TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr2:20205563G>A	ENST00000407540.3	-	2	794	c.732C>T	c.(730-732)taC>taT	p.Y244Y	AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Silent_p.Y244Y	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	244	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTCTCCACGTAGAAAACAT	0.493																																																	0								ENSG00000132031	G		1,3963		0,1,1981	28.0	31.0	30.0		732	-6.4	0.6	2		30	0,8326		0,0,4163	no	coding-synonymous	MATN3	NM_002381.4		0,1,6144	AA,AG,GG		0.0,0.0252,0.0081		244/487	20205563	1,12289	1982	4163	6145	MATN3	SO:0001819	synonymous_variant	0			-	HGNC	AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.732C>T	2.37:g.20205563G>A		Somatic	0	50	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	43	33.85	B2CPU0|Q4ZG02	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd_dom,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_A	p.Y244	ENST00000407540.3	37	c.732	CCDS46226.1	2																																																																																			-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.493	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MATN3	protein_coding	OTTHUMT00000323925.1	G	NM_002381	-		20205563	-1	no_errors	ENST00000407540	ensembl	human	known	74_37	silent	SNP	0.372	A
EDN3	1908	genome.wustl.edu	37	20	57896081	57896081	+	Silent	SNP	G	G	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr20:57896081G>T	ENST00000337938.2	+	3	761	c.375G>T	c.(373-375)gtG>gtT	p.V125V	EDN3_ENST00000371025.3_Silent_p.V125V|EDN3_ENST00000395654.3_Silent_p.V125V|EDN3_ENST00000371028.2_Silent_p.V125V|EDN3_ENST00000311585.7_Silent_p.V125V	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	125					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					GACAGACGGTGCCCTATGGAC	0.617																																																	0								ENSG00000124205						85.0	72.0	76.0					20																	57896081		2203	4300	6503	EDN3	SO:0001819	synonymous_variant	0			-	HGNC	X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"""Endogenous ligands"""	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.375G>T	20.37:g.57896081G>T		Somatic	0	49	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	106	13.11	E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D	p.V125	ENST00000337938.2	37	c.375	CCDS13477.1	20																																																																																			-	prints_Bibrotoxin/Sarafotoxin-D		0.617	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EDN3	protein_coding	OTTHUMT00000079919.2	G	NM_000114	-		57896081	+1	no_errors	ENST00000337938	ensembl	human	known	74_37	silent	SNP	1.000	T
DCDC1	341019	genome.wustl.edu	37	11	31128498	31128498	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr11:31128498T>A	ENST00000597505.1	-	11	1596	c.1597A>T	c.(1597-1599)Aag>Tag	p.K533*	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGATGAATCTTGAGAAGTAAC	0.413											OREG0020856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000170959						48.0	45.0	46.0					11																	31128498		1830	4082	5912	DCDC1	SO:0001587	stop_gained	0			-	HGNC	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.1597A>T	11.37:g.31128498T>A	ENSP00000472625:p.Lys533*	Somatic	0	104	0.00	822	0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	22	33.33	A6PVL6|B7WNX6|Q6ZU04	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin	p.K533*	ENST00000597505.1	37	c.1597		11																																																																																			-	NULL		0.413	DCDC1-010	PUTATIVE	basic	protein_coding	DCDC1	protein_coding	OTTHUMT00000463167.1	T	NM_181807	-		31128498	-1	no_errors	ENST00000597505	ensembl	human	putative	74_37	nonsense	SNP	0.111	A
DMBT1	1755	genome.wustl.edu	37	10	124335918	124335918	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr10:124335918C>A	ENST00000338354.3	+	7	393	c.287C>A	c.(286-288)tCt>tAt	p.S96Y	DMBT1_ENST00000368909.3_Missense_Mutation_p.S96Y|DMBT1_ENST00000359586.6_Missense_Mutation_p.S96Y|DMBT1_ENST00000330163.4_Missense_Mutation_p.S96Y|DMBT1_ENST00000344338.3_Missense_Mutation_p.S96Y|DMBT1_ENST00000368955.3_Missense_Mutation_p.S96Y|DMBT1_ENST00000368956.2_Missense_Mutation_p.S96Y			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	96					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCTCTAGGATCTGATTCTGGT	0.557																																					Ovarian(182;93 2026 18125 22222 38972)												0								ENSG00000187908						110.0	112.0	111.0					10																	124335918		1994	4191	6185	DMBT1	SO:0001583	missense	0			-	HGNC		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.287C>A	10.37:g.124335918C>A	ENSP00000342210:p.Ser96Tyr	Somatic	0	131	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	126	25.00	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR	p.S96Y	ENST00000338354.3	37	c.287		10	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414133	0.42817	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.26518	1.81;1.77;1.73;1.81;1.77;1.73;1.75	4.54	2.64	0.31445	Speract/scavenger receptor-related (1);	.	.	.	.	T	0.36608	0.0973	L	0.43646	1.37	0.09310	N	1	P;D;P;D;D	0.69078	0.714;0.977;0.495;0.997;0.979	B;P;B;D;P	0.69307	0.395;0.856;0.177;0.963;0.76	T	0.10543	-1.0625	9	0.66056	D	0.02	.	5.671	0.17723	0.1935:0.7032:0.0:0.1033	.	96;96;96;96;96	F8WEF7;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	Y	96	ENSP00000342210:S96Y;ENSP00000343175:S96Y;ENSP00000327747:S96Y;ENSP00000357905:S96Y;ENSP00000357951:S96Y;ENSP00000357952:S96Y;ENSP00000352593:S96Y	ENSP00000331522:S96Y	S	+	2	0	DMBT1	124325908	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	0.106000	0.15354	0.446000	0.26666	0.591000	0.81541	TCT	-	superfamily_Srcr_rcpt-rel		0.557	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	protein_coding	OTTHUMT00000050792.2	C	NM_004406	-		124335918	+1	no_errors	ENST00000338354	ensembl	human	known	74_37	missense	SNP	0.000	A
BPIFC	254240	genome.wustl.edu	37	22	32849374	32849374	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr22:32849374delA	ENST00000397452.1	-	3	351	c.241delT	c.(241-243)tcafs	p.S81fs	BPIFC_ENST00000397450.1_Frame_Shift_Del_p.S81fs|BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000300399.3_Frame_Shift_Del_p.S81fs|BPIFC_ENST00000432451.2_5'UTR			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	81						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										acttaCTTTGAAAAATTGTAG	0.353																																																	0								ENSG00000184459						45.0	44.0	44.0					22																	32849374		2202	4299	6501	BPIFC	SO:0001589	frameshift_variant	0				HGNC	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.241delT	22.37:g.32849374delA	ENSP00000380594:p.Ser81fs	Somatic	0	28	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	23	8.00	A2RRF1	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.S81fs	ENST00000397452.1	37	c.241	CCDS13906.1	22																																																																																			-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N		0.353	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	BPIFC	protein_coding	OTTHUMT00000129029.2	A	NM_174932			32849374	-1	no_errors	ENST00000300399	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
SPATA31D5P	347127	genome.wustl.edu	37	9	84533237	84533237	+	RNA	SNP	C	C	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr9:84533237C>T	ENST00000527857.1	+	0	3259					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		CTGATACTGACGAGGATCTTA	0.483																																																	0								ENSG00000240632																																			SPATA31D5P			0			-	HGNC			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.84533237C>T		Somatic	0	54	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	20	41.18		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000527857.1	37	NULL		9																																																																																			-	-		0.483	SPATA31D5P-002	KNOWN	basic	processed_transcript	SPATA31D5P	pseudogene	OTTHUMT00000052810.2	C	NR_026851	-		84533237	+1	no_errors	ENST00000527857	ensembl	human	known	74_37	rna	SNP	0.000	T
KRT73	319101	genome.wustl.edu	37	12	53005034	53005034	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr12:53005034C>T	ENST00000305748.3	-	6	1098	c.1064G>A	c.(1063-1065)cGt>cAt	p.R355H	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	355	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGGATGAGACGGGTCAGCTC	0.537																																																	0								ENSG00000186049						163.0	138.0	146.0					12																	53005034		2203	4300	6503	KRT73	SO:0001583	missense	0			-	HGNC	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1064G>A	12.37:g.53005034C>T	ENSP00000307014:p.Arg355His	Somatic	0	69	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	43	30.65	Q32MB2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.R355H	ENST00000305748.3	37	c.1064	CCDS8834.1	12	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027819	0.75390	.	.	ENSG00000186049	ENST00000305748;ENST00000552855	D;D	0.90504	-2.68;-2.68	5.61	5.61	0.85477	Filament (1);	0.000000	0.49916	D	0.000128	D	0.92721	0.7686	M	0.92026	3.265	0.41322	D	0.987184	P	0.45827	0.867	B	0.40940	0.344	D	0.94328	0.7559	10	0.87932	D	0	.	16.2836	0.82708	0.1329:0.8671:0.0:0.0	.	355	Q86Y46	K2C73_HUMAN	H	355;100	ENSP00000307014:R355H;ENSP00000449081:R100H	ENSP00000307014:R355H	R	-	2	0	KRT73	51291301	0.906000	0.30813	0.978000	0.43139	0.911000	0.54048	3.680000	0.54641	2.821000	0.97095	0.555000	0.69702	CGT	-	pfam_IF,superfamily_Prefoldin		0.537	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT73	protein_coding	OTTHUMT00000405700.1	C	NM_175068	-		53005034	-1	no_errors	ENST00000305748	ensembl	human	known	74_37	missense	SNP	0.964	T
CDH3	1001	genome.wustl.edu	37	16	68721584	68721584	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr16:68721584G>T	ENST00000264012.4	+	12	2284	c.1740G>T	c.(1738-1740)caG>caT	p.Q580H	CDH3_ENST00000429102.2_Missense_Mutation_p.Q580H|CDH3_ENST00000581171.1_Missense_Mutation_p.Q525H	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	580	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CCCCTTTCCAGGCCCAGCTCA	0.607																																																	2	Unknown(2)	breast(2)						ENSG00000062038						127.0	98.0	107.0					16																	68721584		2198	4300	6498	CDH3	SO:0001583	missense	0			-	HGNC	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1740G>T	16.37:g.68721584G>T	ENSP00000264012:p.Gln580His	Somatic	0	29	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	41	10.87	B2R6F4|Q05DI6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q580H	ENST00000264012.4	37	c.1740	CCDS10868.1	16	.	.	.	.	.	.	.	.	.	.	G	11.15	1.552627	0.27739	.	.	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	T;T	0.60672	0.17;0.17	5.29	2.13	0.27403	Cadherin (1);Cadherin-like (1);	0.678066	0.12386	N	0.473492	T	0.43986	0.1272	L	0.48642	1.525	0.33599	D	0.602058	B	0.06786	0.001	B	0.06405	0.002	T	0.44298	-0.9337	10	0.22109	T	0.4	.	4.4997	0.11858	0.0808:0.2774:0.4973:0.1445	.	580	P22223	CADH3_HUMAN	H	580;580;525	ENSP00000398485:Q580H;ENSP00000264012:Q580H	ENSP00000264012:Q580H	Q	+	3	2	CDH3	67279085	0.015000	0.18098	0.996000	0.52242	0.980000	0.70556	0.086000	0.14935	0.619000	0.30197	0.563000	0.77884	CAG	-	superfamily_Cadherin-like,pfscan_Cadherin		0.607	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH3	protein_coding	OTTHUMT00000268896.2	G	NM_001793	-		68721584	+1	no_errors	ENST00000264012	ensembl	human	known	74_37	missense	SNP	0.988	T
FLG	2312	genome.wustl.edu	37	1	152277218	152277218	+	Missense_Mutation	SNP	G	G	A	rs147066553		TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr1:152277218G>A	ENST00000368799.1	-	3	10179	c.10144C>T	c.(10144-10146)Cgt>Tgt	p.R3382C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3382	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCTGAACGTCCAGACCTT	0.597									Ichthyosis				G|||	1	0.000199681	0.0	0.0014	5008	,	,		19061	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000143631	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	257.0	279.0	272.0		10144	-1.4	0.0	1	dbSNP_134	272	0,8600		0,0,4300	no	missense	FLG	NM_002016.1	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	3382/4062	152277218	1,13005	2203	4300	6503	FLG	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	-	HGNC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10144C>T	1.37:g.152277218G>A	ENSP00000357789:p.Arg3382Cys	Somatic	0	180	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	131	25.99	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.R3382C	ENST00000368799.1	37	c.10144	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354762	0.24512	2.27E-4	0.0	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.00958	5.5	3.24	-1.37	0.09056	.	.	.	.	.	T	0.01222	0.0040	M	0.75447	2.3	0.09310	N	1	D	0.89917	1.0	D	0.69142	0.962	T	0.45585	-0.9251	9	0.66056	D	0.02	.	2.6372	0.04961	0.402:0.0:0.3838:0.2141	.	3382	P20930	FILA_HUMAN	C	3382;320	ENSP00000357789:R3382C	ENSP00000357786:R320C	R	-	1	0	FLG	150543842	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.323000	0.07997	-0.266000	0.09339	0.454000	0.30748	CGT	-	NULL		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	G	NM_002016	rs147066553		152277218	-1	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	SNP	0.000	A
C2orf43	60526	genome.wustl.edu	37	2	20939958	20939958	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr2:20939958C>T	ENST00000237822.3	-	5	555	c.476G>A	c.(475-477)cGt>cAt	p.R159H	C2orf43_ENST00000435420.2_Missense_Mutation_p.R111H|C2orf43_ENST00000381090.3_Missense_Mutation_p.R159H|C2orf43_ENST00000440866.2_Intron|C2orf43_ENST00000403006.2_Missense_Mutation_p.R29H|C2orf43_ENST00000541941.1_Missense_Mutation_p.R29H	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	159										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGAAAGGCACGAATTACCTG	0.378																																																	0								ENSG00000118961						80.0	77.0	78.0					2																	20939958		2203	4300	6503	C2orf43	SO:0001583	missense	0			-	HGNC	AK025473	CCDS1702.1, CCDS62864.1, CCDS74488.1, CCDS74489.1	2p24.1	2014-02-07			ENSG00000118961	ENSG00000118961			26145	protein-coding gene	gene with protein product		613570				17135363, 24357060	Standard	NM_001282723		Approved	FLJ21820	uc002rec.3	Q9H6V9	OTTHUMG00000122097	ENST00000237822.3:c.476G>A	2.37:g.20939958C>T	ENSP00000237822:p.Arg159His	Somatic	0	20	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	9	30.77	B7ZA47|B7ZAJ5|D6W530|E7ESN0|Q53T37|Q53T58	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF2305	p.R159H	ENST00000237822.3	37	c.476	CCDS1702.1	2	.	.	.	.	.	.	.	.	.	.	C	6.264	0.416862	0.11870	.	.	ENSG00000118961	ENST00000403006;ENST00000381090;ENST00000237822;ENST00000435420;ENST00000541941;ENST00000432947;ENST00000412261	T;T;T;T	0.71934	0.88;1.47;0.88;-0.61	5.61	2.67	0.31697	.	0.170702	0.52532	N	0.000075	T	0.47154	0.1430	N	0.17474	0.49	0.32083	N	0.592878	B;B;B;B	0.21452	0.017;0.056;0.007;0.011	B;B;B;B	0.16722	0.016;0.016;0.013;0.013	T	0.41680	-0.9495	10	0.13853	T	0.58	-9.6733	6.6113	0.22753	0.0:0.5402:0.0:0.4598	.	117;111;159;159	B4DS38;B7ZAJ5;Q9H6V9;B5MDU6	.;.;CB043_HUMAN;.	H	29;159;159;111;29;29;111	ENSP00000384267:R29H;ENSP00000388635:R111H;ENSP00000440570:R29H;ENSP00000396911:R29H	ENSP00000237822:R159H	R	-	2	0	C2orf43	20803439	0.527000	0.26306	0.009000	0.14445	0.191000	0.23601	0.707000	0.25704	0.320000	0.23234	0.650000	0.86243	CGT	-	pfam_DUF2305		0.378	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf43	protein_coding	OTTHUMT00000242861.1	C	NM_021925	-		20939958	-1	no_errors	ENST00000237822	ensembl	human	known	74_37	missense	SNP	0.053	T
RP11-754I20.1	0	genome.wustl.edu	37	14	19114730	19114730	+	RNA	SNP	G	G	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr14:19114730G>T	ENST00000553170.1	+	0	82																											GCTGTGCAATGCCAGAGGGAA	0.328																																																	0								ENSG00000215398																																			RP11-754I20.1			0			-	Clone_based_vega_gene																													14.37:g.19114730G>T		Somatic	0	196	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	142	11.25		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000553170.1	37	NULL		14																																																																																			-	-		0.328	RP11-754I20.1-002	KNOWN	basic	processed_transcript	ENSG00000215398	pseudogene	OTTHUMT00000408394.1	G		-		19114730	+1	no_errors	ENST00000553170	ensembl	human	known	74_37	rna	SNP	1.000	T
TRPS1	7227	genome.wustl.edu	37	8	116616855	116616855	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr8:116616855G>C	ENST00000220888.5	-	3	1461	c.1302C>G	c.(1300-1302)taC>taG	p.Y434*	TRPS1_ENST00000520276.1_Nonsense_Mutation_p.Y438*|TRPS1_ENST00000395715.3_Nonsense_Mutation_p.Y447*|TRPS1_ENST00000519674.1_Nonsense_Mutation_p.Y434*|TRPS1_ENST00000519076.1_Intron			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	434					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATTTACACCAGTAGTAACTGG	0.473									Langer-Giedion syndrome																																								0								ENSG00000104447						64.0	63.0	63.0					8																	116616855		1904	4130	6034	TRPS1	SO:0001587	stop_gained	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	-	HGNC	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1302C>G	8.37:g.116616855G>C	ENSP00000220888:p.Tyr434*	Somatic	0	41	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.Y447*	ENST00000220888.5	37	c.1341		8	.	.	.	.	.	.	.	.	.	.	G	37	6.634937	0.97722	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	.	.	.	5.69	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.836	0.70183	0.0689:0.0:0.9311:0.0	.	.	.	.	X	447;434;438;434	.	ENSP00000220888:Y434X	Y	-	3	2	TRPS1	116686030	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.217000	0.58547	1.540000	0.49301	0.655000	0.94253	TAC	-	smart_Znf_C2H2-like		0.473	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	protein_coding	OTTHUMT00000286436.3	G	NM_014112	-		116616855	-1	no_errors	ENST00000395715	ensembl	human	known	74_37	nonsense	SNP	1.000	C
FAM83E	54854	genome.wustl.edu	37	19	49104467	49104467	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr19:49104467G>A	ENST00000263266.3	-	5	1525	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	446										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		AACCGCCTTCGGGCTGGGGAC	0.706																																																	0								ENSG00000105523						16.0	17.0	17.0					19																	49104467		1833	4076	5909	FAM83E	SO:0001587	stop_gained	0			-	HGNC	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.1336C>T	19.37:g.49104467G>A	ENSP00000263266:p.Arg446*	Somatic	0	43	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	64	8.57	Q9NXK1	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase	p.R446*	ENST00000263266.3	37	c.1336	CCDS42587.1	19	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779357	0.70107	.	.	ENSG00000105523	ENST00000263266	.	.	.	3.86	2.79	0.32731	.	0.339194	0.15976	U	0.235536	.	.	.	.	.	.	0.42438	D	0.992703	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.7737	9.0731	0.36504	0.0:0.0:0.7803:0.2197	.	.	.	.	X	446	.	ENSP00000263266:R446X	R	-	1	2	FAM83E	53796279	0.124000	0.22315	0.007000	0.13788	0.019000	0.09904	1.337000	0.33862	0.724000	0.32296	0.549000	0.68633	CGA	-	NULL		0.706	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83E	protein_coding	OTTHUMT00000466145.1	G	NM_017708	-		49104467	-1	no_errors	ENST00000263266	ensembl	human	known	74_37	nonsense	SNP	0.023	A
FLJ36000	284124	genome.wustl.edu	37	17	21911095	21911095	+	lincRNA	SNP	C	C	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr17:21911095C>T	ENST00000581223.2	+	0	1820					NR_027084.1																						gggtgagtctccccagaagtc	0.627																																																	0								ENSG00000266795																																			RP11-744K17.9			0			-	Clone_based_vega_gene																													17.37:g.21911095C>T		Somatic	0	18	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	17	30.77		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000581223.2	37	NULL		17																																																																																			-	-		0.627	RP11-744K17.9-001	KNOWN	basic	lincRNA	FLJ36000	lincRNA	OTTHUMT00000451067.1	C		-		21911095	+1	no_errors	ENST00000581223	ensembl	human	known	74_37	rna	SNP	0.224	T
OR11H1	81061	genome.wustl.edu	37	22	16449050	16449050	+	Missense_Mutation	SNP	G	G	A	rs78350717	byFrequency	TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr22:16449050G>A	ENST00000252835.4	-	1	755	c.755C>T	c.(754-756)gCc>gTc	p.A252V		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		GGTAGAGAAGGCCTTATGTCT	0.438													G|||	1036	0.206869	0.0703	0.1931	5008	,	,		22319	0.25		0.3608	False		,,,				2504	0.1984																0								ENSG00000130538	G	VAL/ALA	489,3913	225.9+/-241.6	32,425,1744	117.0	114.0	115.0		755	1.7	1.0	22	dbSNP_134	115	3111,5483	469.5+/-367.6	551,2009,1737	no	missense	OR11H1	NM_001005239.1	64	583,2434,3481	AA,AG,GG		36.1997,11.1086,27.7008	probably-damaging	252/327	16449050	3600,9396	2201	4297	6498	OR11H1	SO:0001583	missense	0			-	HGNC	AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"""GPCR / Class A : Olfactory receptors"""	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.755C>T	22.37:g.16449050G>A	ENSP00000252835:p.Ala252Val	Somatic	0	72	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	Q6IEX0|Q96R32	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A252V	ENST00000252835.4	37	c.755	CCDS33594.1	22	.	.	.	.	.	.	.	.	.	.	g	13.53	2.265663	0.40095	0.111086	0.361997	ENSG00000130538	ENST00000252835	T	0.00342	8.03	1.73	1.73	0.24493	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41605	D	0.000857	T	0.00012	0.0000	M	0.84433	2.695	0.48185	P	3.9999999999995595E-4	D	0.71674	0.998	D	0.71184	0.972	T	0.48990	-0.8985	9	0.62326	D	0.03	.	9.578	0.39470	0.0:0.0:1.0:0.0	.	252	Q8NG94	O11H1_HUMAN	V	252	ENSP00000252835:A252V	ENSP00000252835:A252V	A	-	2	0	OR11H1	14829050	0.963000	0.33076	0.985000	0.45067	0.717000	0.41224	1.891000	0.39738	0.917000	0.36895	0.368000	0.22195	GCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.438	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H1	protein_coding	OTTHUMT00000074923.2	G	NM_001005239	rs148001219		16449050	-1	no_errors	ENST00000252835	ensembl	human	known	74_37	missense	SNP	0.996	A
NUP107	57122	genome.wustl.edu	37	12	69121131	69121131	+	Splice_Site	SNP	G	G	A			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr12:69121131G>A	ENST00000229179.4	+	20	2028	c.1696G>A	c.(1696-1698)Gag>Aag	p.E566K	NUP107_ENST00000378905.2_Splice_Site_p.E415K|NUP107_ENST00000539906.1_Splice_Site_p.E537K	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	566					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TCCTATGAAGGAGGAAGTTTC	0.234																																																	0								ENSG00000111581						50.0	57.0	55.0					12																	69121131		2196	4285	6481	NUP107	SO:0001630	splice_region_variant	0			-	HGNC	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1696-1G>A	12.37:g.69121131G>A		Somatic	0	61	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	52	10.34	B4DZ67|Q6PJE1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Nup84_Nup100	p.E566K	ENST00000229179.4	37	c.1696	CCDS8985.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.078036	0.94000	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.57	5.57	0.84162	.	0.090794	0.85682	D	0.000000	T	0.74997	0.3790	M	0.75777	2.31	0.80722	D	1	D;P;D	0.56287	0.975;0.47;0.975	P;B;P	0.54100	0.742;0.42;0.742	T	0.74589	-0.3615	8	.	.	.	-27.0511	19.9464	0.97184	0.0:0.0:1.0:0.0	.	537;415;566	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	K	566;415;537	.	.	E	+	1	0	NUP107	67407398	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.081000	0.76844	2.798000	0.96311	0.650000	0.86243	GAG	-	pfam_Nup84_Nup100		0.234	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP107	protein_coding	OTTHUMT00000403195.1	G	NM_020401	-	Missense_Mutation	69121131	+1	no_errors	ENST00000229179	ensembl	human	known	74_37	missense	SNP	1.000	A
KRTAP5-2	440021	genome.wustl.edu	37	11	1619355	1619355	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr11:1619355A>T	ENST00000412090.1	-	1	169	c.126T>A	c.(124-126)tgT>tgA	p.C42*	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	42						keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGCAGCCCCCACAGCCAGAGC	0.682																																																	0								ENSG00000205867						35.0	44.0	41.0					11																	1619355		2168	4234	6402	KRTAP5-2	SO:0001587	stop_gained	0			-	HGNC	AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"""Keratin associated proteins"""	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.126T>A	11.37:g.1619355A>T	ENSP00000400041:p.Cys42*	Somatic	0	84	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	65	23.91	A9JTZ1	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.C42*	ENST00000412090.1	37	c.126	CCDS31331.1	11	.	.	.	.	.	.	.	.	.	.	-	29.2	4.983474	0.93044	.	.	ENSG00000205867	ENST00000412090	.	.	.	3.13	-2.24	0.06909	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.0584	0.09827	0.3419:0.3026:0.3556:0.0	.	.	.	.	X	42	.	ENSP00000400041:C42X	C	-	3	2	KRTAP5-2	1575931	0.000000	0.05858	0.735000	0.30896	0.706000	0.40770	-0.196000	0.09532	-0.367000	0.08052	0.367000	0.22151	TGT	-	NULL		0.682	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-2	protein_coding	OTTHUMT00000384775.1	A	NM_001004325	-		1619355	-1	no_errors	ENST00000412090	ensembl	human	known	74_37	nonsense	SNP	0.868	T
PCDHB6	56130	genome.wustl.edu	37	5	140531234	140531234	+	Silent	SNP	C	C	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr5:140531234C>T	ENST00000231136.1	+	1	1396	c.1396C>T	c.(1396-1398)Ctg>Ttg	p.L466L	PCDHB6_ENST00000543635.1_Silent_p.L330L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	466	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCCCCGCCCTGCACATCGG	0.637																																																	0								ENSG00000113211						83.0	94.0	90.0					5																	140531234		2203	4298	6501	PCDHB6	SO:0001819	synonymous_variant	0			-	HGNC	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1396C>T	5.37:g.140531234C>T		Somatic	0	108	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	191	16.23	B2R8R9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L466	ENST00000231136.1	37	c.1396	CCDS4248.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.637	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	protein_coding	OTTHUMT00000251818.2	C	NM_018939	-		140531234	+1	no_errors	ENST00000231136	ensembl	human	known	74_37	silent	SNP	0.198	T
DGKK	139189	genome.wustl.edu	37	X	50134456	50134456	+	RNA	SNP	G	G	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chrX:50134456G>T	ENST00000376025.2	-	0	1882							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CCTCACACTAGCCTGCTCCAC	0.512																																																	0								ENSG00000204466						183.0	170.0	174.0					X																	50134456		2057	4172	6229	DGKK			0			-	HGNC	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50134456G>T		Somatic	0	46	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	15	25.00	B2RP91	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			-	-		0.512	DGKK-001	KNOWN	basic	processed_transcript	DGKK	processed_transcript	OTTHUMT00000368187.1	G	NM_001013742	-		50134456	-1	no_errors	ENST00000376025	ensembl	human	known	74_37	rna	SNP	1.000	T
RPL3L	6123	genome.wustl.edu	37	16	2003015	2003015	+	Silent	SNP	C	C	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr16:2003015C>T	ENST00000268661.7	-	3	319	c.225G>A	c.(223-225)gcG>gcA	p.A75A	RPL3L_ENST00000566484.1_5'Flank	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	75					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 large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CAATTGTCACCGCCTCCACCT	0.617																																																	0								ENSG00000140986						59.0	52.0	54.0					16																	2003015		2199	4300	6499	RPL3L	SO:0001819	synonymous_variant	0			-	HGNC	U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.225G>A	16.37:g.2003015C>T		Somatic	0	32	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	60	13.04		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ribosomal_L3,superfamily_Transl_B-barrel	p.A75	ENST00000268661.7	37	c.225	CCDS10450.1	16																																																																																			-	pfam_Ribosomal_L3,superfamily_Transl_B-barrel		0.617	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL3L	protein_coding	OTTHUMT00000250582.2	C	NM_005061	-		2003015	-1	no_errors	ENST00000268661	ensembl	human	known	74_37	silent	SNP	0.002	T
ADAMTS9	56999	genome.wustl.edu	37	3	64527528	64527528	+	Missense_Mutation	SNP	C	C	T	rs202044216		TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr3:64527528C>T	ENST00000498707.1	-	33	5525	c.5183G>A	c.(5182-5184)cGt>cAt	p.R1728H	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1700H	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1728	TSP type-1 15. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ATAGACATTACGGCAGGTTTT	0.413																																																	0								ENSG00000163638	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	147.0	143.0	144.0		5183	3.3	0.5	3		144	0,8600		0,0,4300	no	missense	ADAMTS9	NM_182920.1	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1728/1936	64527528	1,13005	2203	4300	6503	ADAMTS9	SO:0001583	missense	0			-	HGNC	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5183G>A	3.37:g.64527528C>T	ENSP00000418735:p.Arg1728His	Somatic	0	74	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	46	28.12	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R1728H	ENST00000498707.1	37	c.5183	CCDS2903.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.049|4.049	0.006828|0.006828	0.07866|0.07866	2.27E-4|2.27E-4	0.0|0.0	ENSG00000163638|ENSG00000163638	ENST00000295903;ENST00000498707|ENST00000481060	T;T|.	0.59502|.	0.26;0.28|.	5.7|5.7	3.26|3.26	0.37387|0.37387	.|.	0.208186|.	0.42964|.	N|.	0.000640|.	T|T	0.26159|0.26159	0.0638|0.0638	N|N	0.02412|0.02412	-0.56|-0.56	0.80722|0.80722	D|D	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.0;0.001|.	T|T	0.04153|0.04153	-1.0973|-1.0973	10|5	0.02654|.	T|.	1|.	.|.	9.8378|9.8378	0.40980|0.40980	0.0:0.144:0.0:0.856|0.0:0.144:0.0:0.856	.|.	1700;1728|.	B7ZVX9;Q9P2N4|.	.;ATS9_HUMAN|.	H|I	1700;1728|784	ENSP00000295903:R1700H;ENSP00000418735:R1728H|.	ENSP00000295903:R1700H|.	R|V	-|-	2|1	0|0	ADAMTS9|ADAMTS9	64502568|64502568	0.991000|0.991000	0.36638|0.36638	0.492000|0.492000	0.27490|0.27490	0.428000|0.428000	0.31595|0.31595	2.429000|2.429000	0.44758|0.44758	0.407000|0.407000	0.25591|0.25591	-0.469000|-0.469000	0.05056|0.05056	CGT|GTA	-	pfam_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.413	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	protein_coding	OTTHUMT00000351891.1	C		rs202044216		64527528	-1	no_errors	ENST00000498707	ensembl	human	known	74_37	missense	SNP	0.894	T
REXO4	57109	genome.wustl.edu	37	9	136272961	136272961	+	Silent	SNP	C	C	A			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr9:136272961C>A	ENST00000371942.3	-	7	1318	c.1119G>T	c.(1117-1119)ggG>ggT	p.G373G	REXO4_ENST00000371935.2_Silent_p.G201G	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	373	Exonuclease.				regulation of transcription, DNA-templated (GO:0006355)	nucleolus (GO:0005730)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		GGACCTGGAGCCCAAGGATCT	0.597																																																	0								ENSG00000148300						75.0	57.0	63.0					9																	136272961		2203	4300	6503	REXO4	SO:0001819	synonymous_variant	0			-	HGNC	AF273304	CCDS6969.1, CCDS65179.1	9q34	2008-02-05	2005-08-22	2005-08-22	ENSG00000148300	ENSG00000148300			12820	protein-coding gene	gene with protein product		602930	"""Xenopus prevents mitotic catatrophe 2 homolog"", ""XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)"""	XPMC2H		9325058	Standard	NM_020385		Approved		uc004cdm.3	Q9GZR2	OTTHUMG00000020870	ENST00000371942.3:c.1119G>T	9.37:g.136272961C>A		Somatic	0	40	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	97	110	46.86	B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.G373	ENST00000371942.3	37	c.1119	CCDS6969.1	9																																																																																			-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease		0.597	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO4	protein_coding	OTTHUMT00000054899.1	C		-		136272961	-1	no_errors	ENST00000371942	ensembl	human	known	74_37	silent	SNP	0.013	A
KRTAP10-7	386675	genome.wustl.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679|rs60739860|rs373191083		TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccctgctgcgcccccagc>ccc	p.CCAPS46del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	46	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698																																																	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)						ENSG00000205441		,	2258,1042		849,560,241					,	-0.7	1.0		dbSNP_126	22	6001,1123		2605,791,166	no	coding,intron	TSPEAR,KRTAP10-7	NM_198689.2,NM_144991.2	,	3454,1351,407	A1A1,A1R,RR		15.7636,31.5758,20.7694	,	,		8259,2165				KRTAP10-7	SO:0001651	inframe_deletion	0				HGNC	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.135_149delCTGCTGCGCCCCCAG	21.37:g.46020656_46020670delCTGCTGCGCCCCCAG	ENSP00000369445:p.Cys46_Ser50del	Somatic	NA	NA	NA		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q0VDJ8|Q70LJ2	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	NULL	p.PSCCA49in_frame_del	ENST00000380102.2	37	c.135_149		21																																																																																			-	NULL		0.698	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	KRTAP10-7	protein_coding	OTTHUMT00000128038.1	CTGCTGCGCCCCCAG	NM_198689			46020670	+1	no_errors	ENST00000380102	ensembl	human	known	74_37	in_frame_del	DEL	0.132:0.261:0.989:1.000:1.000:0.990:0.713:0.752:0.994:0.999:1.000:1.000:1.000:0.996:0.995	-
CACNA2D1	781	genome.wustl.edu	37	7	81643716	81643716	+	Splice_Site	SNP	C	C	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr7:81643716C>T	ENST00000356253.5	-	13	1478		c.e13+1		CACNA2D1_ENST00000464354.1_Splice_Site|CACNA2D1_ENST00000356860.3_Splice_Site|MIR1255B1_ENST00000439234.1_RNA|MIR1255B1_ENST00000454066.1_RNA			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1						calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	AGATTTGTTACCTTTGTTTTC	0.313																																																	0								ENSG00000153956						68.0	66.0	66.0					7																	81643716		2203	4300	6503	CACNA2D1	SO:0001630	splice_region_variant	0			-	HGNC	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1222+1G>A	7.37:g.81643716C>T		Somatic	0	52	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	15	34.78	Q17R45|Q9UD80|Q9UD81|Q9UD82	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e13+1	ENST00000356253.5	37	c.1222+1		7	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748291	0.69533	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5849	0.87978	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CACNA2D1	81481652	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.647000	0.67923	2.451000	0.82905	0.305000	0.20034	.	-	-		0.313	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	protein_coding		C		-	Intron	81643716	-1	no_errors	ENST00000356253	ensembl	human	known	74_37	splice_site	SNP	1.000	T
CCSER2	54462	genome.wustl.edu	37	10	86223768	86223768	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr10:86223768A>T	ENST00000224756.8	+	7	2329	c.2144A>T	c.(2143-2145)tAt>tTt	p.Y715F	CCSER2_ENST00000494144.1_3'UTR|CCSER2_ENST00000543283.1_Missense_Mutation_p.Y142F|CCSER2_ENST00000372088.2_Missense_Mutation_p.Y715F	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	715					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											GATAAAGTATATAAGGTATGA	0.308																																																	0								ENSG00000107771						111.0	99.0	103.0					10																	86223768		2203	4300	6503	CCSER2	SO:0001583	missense	0			-	HGNC		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.2144A>T	10.37:g.86223768A>T	ENSP00000224756:p.Tyr715Phe	Somatic	0	60	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.Y715F	ENST00000224756.8	37	c.2144	CCDS31235.1	10	.	.	.	.	.	.	.	.	.	.	A	16.41	3.114812	0.56505	.	.	ENSG00000107771	ENST00000224756;ENST00000372088;ENST00000543283	T;T;T	0.22539	2.3;2.27;1.95	5.57	3.17	0.36434	.	0.617891	0.15686	N	0.249650	T	0.16642	0.0400	L	0.51422	1.61	0.22500	N	0.99904	B;B	0.30281	0.275;0.062	B;B	0.27076	0.076;0.076	T	0.24941	-1.0146	10	0.49607	T	0.09	-1.5932	3.7382	0.08518	0.6712:0.0:0.1696:0.1591	.	715;715	Q9H7U1-3;Q9H7U1	.;F190B_HUMAN	F	715;715;142	ENSP00000224756:Y715F;ENSP00000361160:Y715F;ENSP00000439944:Y142F	ENSP00000224756:Y715F	Y	+	2	0	FAM190B	86213748	0.312000	0.24545	0.426000	0.26672	0.776000	0.43924	0.762000	0.26503	0.363000	0.24346	0.528000	0.53228	TAT	-	NULL		0.308	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSER2	protein_coding	OTTHUMT00000049132.2	A	NM_018999	-		86223768	+1	no_errors	ENST00000372088	ensembl	human	known	74_37	missense	SNP	0.846	T
XPNPEP1	7511	genome.wustl.edu	37	10	111667471	111667471	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr10:111667471A>T	ENST00000502935.1	-	3	343	c.224T>A	c.(223-225)aTc>aAc	p.I75N	XPNPEP1_ENST00000369683.1_5'UTR|XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.I32N|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.I75N					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)		TCCCGATGGGATGATGTAGGC	0.502																																																	0								ENSG00000108039						241.0	200.0	214.0					10																	111667471		2203	4300	6503	XPNPEP1	SO:0001583	missense	0			-	HGNC		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.224T>A	10.37:g.111667471A>T	ENSP00000421566:p.Ile75Asn	Somatic	0	61	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	43	12.24		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.I75N	ENST00000502935.1	37	c.224	CCDS7560.2	10	.	.	.	.	.	.	.	.	.	.	A	23.3	4.405333	0.83230	.	.	ENSG00000108039	ENST00000502935;ENST00000322238;ENST00000369680;ENST00000403138;ENST00000423625	.	.	.	5.33	5.33	0.75918	Creatinase (1);	0.130078	0.50627	D	0.000106	D	0.85031	0.5604	M	0.92219	3.285	0.45129	D	0.998144	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.997	D	0.88429	0.3034	9	0.87932	D	0	-14.0668	12.8205	0.57690	1.0:0.0:0.0:0.0	.	75;75;32	B4E2P4;G5E9Y2;Q9NQW7	.;.;XPP1_HUMAN	N	75;75;32;32;32	.	ENSP00000324011:I75N	I	-	2	0	XPNPEP1	111657461	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.458000	0.73509	2.025000	0.59659	0.533000	0.62120	ATC	-	pfam_Creatinase		0.502	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	XPNPEP1	protein_coding	OTTHUMT00000050264.2	A		-		111667471	-1	no_errors	ENST00000502935	ensembl	human	known	74_37	missense	SNP	1.000	T
TCF12	6938	genome.wustl.edu	37	15	57578959	57578959	+	3'UTR	SNP	T	T	C			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr15:57578959T>C	ENST00000267811.5	+	0	2969				TCF12_ENST00000452095.2_3'UTR|TCF12_ENST00000438423.2_3'UTR|TCF12_ENST00000343827.3_3'UTR|TCF12_ENST00000557843.1_3'UTR|TCF12_ENST00000333725.5_3'UTR	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12						immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TAGGAAAATATTACTTGGTAT	0.328			T	TEC	extraskeletal myxoid chondrosarcoma																																			Dom	yes		15	15q21	6938	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""		M	0								ENSG00000140262																																			TCF12	SO:0001624	3_prime_UTR_variant	0			-	HGNC	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.*616T>C	15.37:g.57578959T>C		Somatic	0	23	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	19	32.14	Q7Z3D9|Q86TC1|Q86VM2	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000267811.5	37	NULL	CCDS10159.1	15																																																																																			-	-		0.328	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCF12	protein_coding	OTTHUMT00000255069.3	T	NM_003205	-		57578959	+1	no_errors	ENST00000560191	ensembl	human	putative	74_37	rna	SNP	1.000	C
KRT16P1	729252	genome.wustl.edu	37	17	18345167	18345167	+	RNA	SNP	G	G	A			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr17:18345167G>A	ENST00000581027.1	+	0	996									keratin 16 pseudogene 1																		GCAGCCCCCAGGTCACCAGTA	0.567																																																	0								ENSG00000214856																																			KRT16P1			0			-	HGNC			17p11.2	2012-08-13	2010-02-25	2010-02-25	ENSG00000214856	ENSG00000214856			6420	pseudogene	pseudogene			"""keratin 14 pseudogene"""	KRT14P			Standard	NR_073414		Approved		uc010vya.2		OTTHUMG00000059249		17.37:g.18345167G>A		Somatic	0	31	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	12	36.84		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000581027.1	37	NULL		17																																																																																			-	-		0.567	KRT16P1-003	KNOWN	basic	processed_transcript	KRT16P1	pseudogene	OTTHUMT00000446576.1	G	NG_007001	-		18345167	+1	no_errors	ENST00000581027	ensembl	human	known	74_37	rna	SNP	0.000	A
ARF1	375	genome.wustl.edu	37	1	228285091	228285091	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr1:228285091G>A	ENST00000541182.1	+	3	459	c.197G>A	c.(196-198)tGg>tAg	p.W66*	ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000272102.5_Nonsense_Mutation_p.W66*|MIR3620_ENST00000584469.1_RNA|ARF1_ENST00000540651.1_Nonsense_Mutation_p.W66*	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	66					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				TTCACTGTGTGGGACGTGGGT	0.617																																																	0								ENSG00000143761						93.0	90.0	91.0					1																	228285091		2203	4300	6503	ARF1	SO:0001587	stop_gained	0			-	HGNC	M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"""ADP-ribosylation factors"", ""Endogenous ligands"""	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.197G>A	1.37:g.228285091G>A	ENSP00000440005:p.Trp66*	Somatic	0	38	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	P10947|P32889	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.W66*	ENST00000541182.1	37	c.197	CCDS1565.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.622174	0.96660	.	.	ENSG00000143761	ENST00000272102;ENST00000540651;ENST00000542941;ENST00000541182	.	.	.	5.39	4.44	0.53790	.	0.000000	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1881	16.3837	0.83490	0.0:0.1309:0.8691:0.0	.	.	.	.	X	66	.	ENSP00000272102:W66X	W	+	2	0	ARF1	226351714	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.575000	0.98187	2.809000	0.96659	0.467000	0.42956	TGG	-	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.617	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ARF1	protein_coding	OTTHUMT00000091650.1	G	NM_001024227	-		228285091	+1	no_errors	ENST00000272102	ensembl	human	known	74_37	nonsense	SNP	1.000	A
GSTCD	79807	genome.wustl.edu	37	4	106763272	106763272	+	Silent	SNP	A	A	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr4:106763272A>T	ENST00000515279.1	+	11	1966	c.1746A>T	c.(1744-1746)ccA>ccT	p.P582P	GSTCD_ENST00000394728.3_Silent_p.P582P|GSTCD_ENST00000360505.5_Silent_p.P582P|GSTCD_ENST00000394730.3_Silent_p.P495P|GSTCD_ENST00000515255.1_3'UTR			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	582						extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TCCAGCTCCCACCCCAACGAA	0.413																																																	0								ENSG00000138780						111.0	104.0	106.0					4																	106763272		1903	4133	6036	GSTCD	SO:0001819	synonymous_variant	0			-	HGNC	BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"""Glutathione S-transferase, C-terminal domain containing"""			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.1746A>T	4.37:g.106763272A>T		Somatic	0	24	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	37	17.78	A8K8J0|A8MVD3|H9KV97|Q9H8S3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_rRNA_ssu_MeTfrase_G,pfam_Small_mtfrase_dom,superfamily_Glutathione-S-Trfase_C-like	p.P582	ENST00000515279.1	37	c.1746	CCDS43257.1	4																																																																																			-	NULL		0.413	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GSTCD	protein_coding	OTTHUMT00000363981.1	A	NM_024751	-		106763272	+1	no_errors	ENST00000360505	ensembl	human	known	74_37	silent	SNP	0.729	T
DIDO1	11083	genome.wustl.edu	37	20	61512209	61512209	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr20:61512209delT	ENST00000266070.4	-	16	5424	c.5099delA	c.(5098-5100)tatfs	p.Y1700fs	DIDO1_ENST00000395343.1_Frame_Shift_Del_p.Y1700fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1700					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGGTCCTCATACTGGGCTGA	0.652																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0								ENSG00000101191						53.0	61.0	58.0					20																	61512209		2203	4300	6503	DIDO1	SO:0001589	frameshift_variant	0				HGNC	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5099delA	20.37:g.61512209delT	ENSP00000266070:p.Tyr1700fs	Somatic	0	42	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	68	12.82	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.Y1700fs	ENST00000266070.4	37	c.5099	CCDS33506.1	20																																																																																			-	NULL		0.652	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	protein_coding	OTTHUMT00000080091.2	T	NM_080796			61512209	-1	no_errors	ENST00000266070	ensembl	human	known	74_37	frame_shift_del	DEL	0.475	-
USH2A	7399	genome.wustl.edu	37	1	215953333	215953333	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr1:215953333G>T	ENST00000307340.3	-	55	11177	c.10791C>A	c.(10789-10791)agC>agA	p.S3597R	USH2A_ENST00000366943.2_Missense_Mutation_p.S3597R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3597	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGCTGTGATGCTTGGTGGCA	0.488										HNSCC(13;0.011)																																							0								ENSG00000042781						129.0	106.0	114.0					1																	215953333		2203	4300	6503	USH2A	SO:0001583	missense	0			-	HGNC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10791C>A	1.37:g.215953333G>T	ENSP00000305941:p.Ser3597Arg	Somatic	0	28	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.S3597R	ENST00000307340.3	37	c.10791	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	0.691	-0.794638	0.02862	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57907	0.37;0.37	5.79	-1.2	0.09554	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.966828	0.08491	N	0.938012	T	0.22322	0.0538	N	0.03238	-0.38	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17715	-1.0360	10	0.13853	T	0.58	.	3.9014	0.09162	0.0966:0.1198:0.3882:0.3954	.	3597	O75445	USH2A_HUMAN	R	3597	ENSP00000305941:S3597R;ENSP00000355910:S3597R	ENSP00000305941:S3597R	S	-	3	2	USH2A	214019956	0.000000	0.05858	0.000000	0.03702	0.550000	0.35303	-0.190000	0.09615	-0.480000	0.06803	-0.265000	0.10407	AGC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.488	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	G	NM_007123	-		215953333	-1	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	SNP	0.000	T
AMBRA1	55626	genome.wustl.edu	37	11	46564792	46564792	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr11:46564792G>T	ENST00000458649.2	-	7	1193	c.775C>A	c.(775-777)Caa>Aaa	p.Q259K	AMBRA1_ENST00000534300.1_Missense_Mutation_p.Q259K|AMBRA1_ENST00000533727.1_Intron|AMBRA1_ENST00000426438.1_Missense_Mutation_p.Q259K|AMBRA1_ENST00000528950.1_Missense_Mutation_p.Q259K|AMBRA1_ENST00000298834.3_Missense_Mutation_p.Q259K|AMBRA1_ENST00000314845.3_Intron			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	259					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		ACTGTGCTTTGCTCTCCCACC	0.632																																																	0								ENSG00000110497						60.0	56.0	57.0					11																	46564792		2201	4299	6500	AMBRA1	SO:0001583	missense	0			-	HGNC	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.775C>A	11.37:g.46564792G>T	ENSP00000415327:p.Gln259Lys	Somatic	0	16	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	26	27.78	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q259K	ENST00000458649.2	37	c.775		11	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156290	0.57259	.	.	ENSG00000110497	ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000528950	T;T;T;T;T	0.68025	-0.17;-0.3;-0.17;-0.27;-0.3	5.94	5.94	0.96194	.	0.177740	0.50627	D	0.000114	T	0.60818	0.2298	.	.	.	0.58432	D	0.999997	B;B;B	0.28636	0.139;0.218;0.218	B;B;B	0.30782	0.056;0.12;0.12	T	0.54077	-0.8347	8	.	.	.	.	19.9544	0.97215	0.0:0.0:1.0:0.0	.	259;259;259	Q9C0C7;Q9C0C7-3;Q9C0C7-2	AMRA1_HUMAN;.;.	K	259	ENSP00000431926:Q259K;ENSP00000410899:Q259K;ENSP00000298834:Q259K;ENSP00000415327:Q259K;ENSP00000433945:Q259K	.	Q	-	1	0	AMBRA1	46521368	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.355000	0.73041	2.822000	0.97130	0.557000	0.71058	CAA	-	NULL		0.632	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	protein_coding	OTTHUMT00000390103.1	G	NM_017749	-		46564792	-1	no_errors	ENST00000458649	ensembl	human	known	74_37	missense	SNP	1.000	T
PGK2	5232	genome.wustl.edu	37	6	49754699	49754699	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr6:49754699C>A	ENST00000304801.3	-	1	354	c.202G>T	c.(202-204)Gat>Tat	p.D68Y		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	68					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GGAACACCATCAGGCCGACCT	0.488																																																	0								ENSG00000170950						190.0	158.0	169.0					6																	49754699		2203	4300	6503	PGK2	SO:0001583	missense	0			-	HGNC	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.202G>T	6.37:g.49754699C>A	ENSP00000305995:p.Asp68Tyr	Somatic	0	55	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	7	36.36	B2R6Y8|Q9H107	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase	p.D68Y	ENST00000304801.3	37	c.202	CCDS4930.1	6	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702953	0.68501	.	.	ENSG00000170950	ENST00000304801	D	0.92249	-3.0	4.09	4.09	0.47781	Phosphoglycerate kinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95705	0.8603	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95895	0.8910	10	0.87932	D	0	-30.2176	14.5839	0.68310	0.0:1.0:0.0:0.0	.	68	P07205	PGK2_HUMAN	Y	68	ENSP00000305995:D68Y	ENSP00000305995:D68Y	D	-	1	0	PGK2	49862658	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.066000	0.76734	2.562000	0.86427	0.585000	0.79938	GAT	-	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase		0.488	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGK2	protein_coding	OTTHUMT00000040872.1	C		-		49754699	-1	no_errors	ENST00000304801	ensembl	human	known	74_37	missense	SNP	1.000	A
CFAP54	144535	genome.wustl.edu	37	12	97254611	97254611	+	Silent	SNP	C	C	A			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr12:97254611C>A	ENST00000524981.4	+	67	9209	c.9186C>A	c.(9184-9186)atC>atA	p.I3062I				Q96N23	CL055_HUMAN		0																	CATTTGATATCTCACTGCCGT	0.348																																																	0								ENSG00000188596																																			C12orf55	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000524981.4:c.9186C>A	12.37:g.97254611C>A		Somatic	0	58	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	42	16.00		Silent	SNP	NA	NA	NA	NA	NA	NA	superfamily_Fibronectin_type3	p.I3062	ENST00000524981.4	37	c.9186		12																																																																																			-	NULL		0.348	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	protein_coding	OTTHUMT00000395046.4	C		-		97254611	+1	no_errors	ENST00000524981	ensembl	human	putative	74_37	silent	SNP	0.185	A
KIAA0430	9665	genome.wustl.edu	37	16	15696480	15696481	+	Intron	INS	-	-	AGGAAAGAAGGAGGGAGGCAGAG	rs373385405|rs373082870|rs79821793|rs71293163	byFrequency	TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr16:15696480_15696481insAGGAAAGAAGGAGGGAGGCAGAG	ENST00000396368.3	-	23	4620				KIAA0430_ENST00000551742.1_Intron|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000548025.1_Intron|KIAA0430_ENST00000344181.3_Frame_Shift_Ins_p.-1113fs|KIAA0430_ENST00000547936.1_Intron|KIAA0430_ENST00000602337.1_Intron	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430						double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						gaggaggaggaaggaaagaagg	0.406														4802	0.958866	0.9955	0.9294	5008	,	,		23942	0.998		0.8777	False		,,,				2504	0.9734																0								ENSG00000166783																																			KIAA0430	SO:0001627	intron_variant	0				HGNC	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.4414-420->CTCTGCCTCCCTCCTTCTTTCCT	16.37:g.15696480_15696481insAGGAAAGAAGGAGGGAGGCAGAG		Somatic	NA	NA	NA		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.P1114fs	ENST00000396368.3	37	c.3339_3338	CCDS10562.2	16																																																																																			-	NULL		0.406	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	protein_coding	OTTHUMT00000252131.2	-	NM_014647			15696481	-1	no_errors	ENST00000344181	ensembl	human	known	74_37	frame_shift_ins	INS	0.000:0.000	AGGAAAGAAGGAGGGAGGCAGAG
NOS3	4846	genome.wustl.edu	37	7	150710438	150710438	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr7:150710438G>T	ENST00000297494.3	+	25	3583	c.3226G>T	c.(3226-3228)Gcc>Tcc	p.A1076S	NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000494791.1_5'UTR|NOS3_ENST00000461406.1_Missense_Mutation_p.A870S|ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000444312.1_3'UTR|ATG9B_ENST00000377974.2_3'UTR	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTCCTCACCGCCTTCTCCCG	0.627											OREG0018443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000164867						58.0	54.0	55.0					7																	150710438		2203	4300	6503	NOS3	SO:0001583	missense	0			-	HGNC		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.3226G>T	7.37:g.150710438G>T	ENSP00000297494:p.Ala1076Ser	Somatic	0	62	0.00	1734	0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	72	17.24	Q495E5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.A1076S	ENST00000297494.3	37	c.3226	CCDS5912.1	7	.	.	.	.	.	.	.	.	.	.	G	32	5.117092	0.94385	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	T;T	0.81078	-1.45;-1.45	4.18	4.18	0.49190	Oxidoreductase FAD/NAD(P)-binding (1);	0.000000	0.64402	D	0.000012	D	0.90772	0.7103	M	0.89840	3.065	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.989	D	0.92649	0.6131	10	0.87932	D	0	-8.9076	14.3911	0.66978	0.0:0.0:1.0:0.0	.	870;1076	E7ESA7;P29474	.;NOS3_HUMAN	S	1076;870	ENSP00000297494:A1076S;ENSP00000417143:A870S	ENSP00000297494:A1076S	A	+	1	0	NOS3	150341371	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.629000	0.98417	2.323000	0.78572	0.484000	0.47621	GCC	-	pfam_OxRdtase_FAD/NAD-bd,pirsf_NOS_euk		0.627	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS3	protein_coding	OTTHUMT00000350750.2	G	NM_000603	-		150710438	+1	no_errors	ENST00000297494	ensembl	human	known	74_37	missense	SNP	1.000	T
ECEL1P2	347694	genome.wustl.edu	37	2	233251555	233251555	+	RNA	SNP	G	G	A			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr2:233251555G>A	ENST00000461596.1	-	0	199					NR_028501.1				endothelin converting enzyme-like 1, pseudogene 2																		CCGCCGCGCCGCGCAGGTCCC	0.662																																																	0								ENSG00000244280																																			ECEL1P2			0			-	HGNC	BC067110		2q37.1	2013-01-17			ENSG00000244280	ENSG00000244280			14019	pseudogene	pseudogene						11352565, 10698686	Standard	NR_028501		Approved	ECEL2	uc021vyg.2		OTTHUMG00000153343		2.37:g.233251555G>A		Somatic	0	61	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	64	8.57		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000461596.1	37	NULL		2																																																																																			-	-		0.662	ECEL1P2-002	PUTATIVE	mRNA_end_NF|basic	processed_transcript	ECEL1P2	pseudogene	OTTHUMT00000330820.1	G	NR_028501	-		233251555	-1	no_errors	ENST00000461596	ensembl	human	putative	74_37	rna	SNP	1.000	A
F5	2153	genome.wustl.edu	37	1	169510293	169510293	+	Silent	SNP	T	T	C			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr1:169510293T>C	ENST00000367797.3	-	13	4236	c.4035A>G	c.(4033-4035)caA>caG	p.Q1345Q	F5_ENST00000367796.3_Silent_p.Q1350Q	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1345	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AAAGGTTTGTTTGACTGAGTT	0.532																																																	0								ENSG00000198734						201.0	223.0	215.0					1																	169510293		2203	4300	6503	F5	SO:0001819	synonymous_variant	0			-	HGNC	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4035A>G	1.37:g.169510293T>C		Somatic	1	219	0.45		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	82	9.78	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.Q1345	ENST00000367797.3	37	c.4035	CCDS1281.1	1																																																																																			-	NULL		0.532	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	protein_coding	OTTHUMT00000083712.1	T	NM_000130	rs145627172		169510293	-1	no_errors	ENST00000367797	ensembl	human	known	74_37	silent	SNP	0.000	C
RBM5	10181	genome.wustl.edu	37	3	50155888	50155889	+	Stop_Codon_Del	DEL	GA	GA	-	rs112672304		TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	GA	GA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr3:50155888_50155889delGA	ENST00000347869.3	+	0	2622_2623				RP11-493K19.3_ENST00000425674.1_RNA|RP11-493K19.3_ENST00000437204.1_RNA	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5						apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.*816fs?(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGATGgagtgagagagagaga	0.535																																																	1	Deletion - Frameshift(1)	breast(1)						ENSG00000003756																																			RBM5	SO:0001567	stop_retained_variant	0				HGNC	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	Exception_encountered	3.37:g.50155898_50155899delGA		Somatic	0	36	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.*816fs	ENST00000347869.3	37	c.2447_2448	CCDS2810.1	3																																																																																			-	NULL		0.535	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM5	protein_coding	OTTHUMT00000345797.3	GA	NM_005778			50155889	+1	no_errors	ENST00000347869	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:0.999	-
PRKCQ	5588	genome.wustl.edu	37	10	6540493	6540493	+	Missense_Mutation	SNP	G	G	A	rs374126448		TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr10:6540493G>A	ENST00000263125.5	-	5	506	c.407C>T	c.(406-408)aCg>aTg	p.T136M	PRKCQ_ENST00000397176.2_Missense_Mutation_p.T136M|PRKCQ_ENST00000539722.1_Missense_Mutation_p.T11M	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	136					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	GAAGCCTTCCGTCTCAAATTC	0.517																																					Ovarian(50;572 1126 10530 25349 30594)												0								ENSG00000065675	G	MET/THR,MET/THR	1,4405		0,1,2202	159.0	135.0	143.0		407,407	1.6	0.0	10		143	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PRKCQ	NM_001242413.1,NM_006257.3	81,81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	136/644,136/707	6540493	2,13004	2203	4300	6503	PRKCQ	SO:0001583	missense	0			-	HGNC	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.407C>T	10.37:g.6540493G>A	ENSP00000263125:p.Thr136Met	Somatic	0	63	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	45	10.00	B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T136M	ENST00000263125.5	37	c.407	CCDS7079.1	10	.	.	.	.	.	.	.	.	.	.	G	3.163	-0.171790	0.06421	2.27E-4	1.16E-4	ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722	T;T;T	0.68765	-0.35;-0.29;-0.34	5.62	1.6	0.23607	.	0.574935	0.18767	N	0.131716	T	0.54464	0.1860	L	0.36672	1.1	0.09310	N	1	B;B;B	0.11235	0.004;0.003;0.002	B;B;B	0.12156	0.007;0.002;0.003	T	0.46233	-0.9206	10	0.46703	T	0.11	.	11.3015	0.49309	0.0626:0.0:0.3362:0.6012	.	11;136;136	B4DF52;Q04759-2;Q04759	.;.;KPCT_HUMAN	M	136;136;11	ENSP00000263125:T136M;ENSP00000380361:T136M;ENSP00000441752:T11M	ENSP00000263125:T136M	T	-	2	0	PRKCQ	6580499	0.000000	0.05858	0.009000	0.14445	0.001000	0.01503	-0.204000	0.09425	0.028000	0.15324	-0.126000	0.14955	ACG	-	pirsf_Prot_kin_PKC_delta		0.517	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCQ	protein_coding	OTTHUMT00000046665.1	G	NM_006257	-		6540493	-1	no_errors	ENST00000263125	ensembl	human	known	74_37	missense	SNP	0.000	A
SEMA6B	10501	genome.wustl.edu	37	19	4556091	4556091	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr19:4556091C>T	ENST00000586582.1	-	6	690	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	SEMA6B_ENST00000301293.3_Missense_Mutation_p.R127Q|SEMA6B_ENST00000586965.1_Missense_Mutation_p.R127Q	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	127	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TACGAAGTTTCGACACTCGCC	0.612																																																	0								ENSG00000167680						98.0	74.0	82.0					19																	4556091		2203	4300	6503	SEMA6B	SO:0001583	missense	0			-	HGNC	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.380G>A	19.37:g.4556091C>T	ENSP00000467290:p.Arg127Gln	Somatic	0	61	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	57	25.00	A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom	p.R127Q	ENST00000586582.1	37	c.380	CCDS12131.1	19	.	.	.	.	.	.	.	.	.	.	c	29.4	5.001781	0.93227	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.09538	2.97	3.67	3.67	0.42095	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.068023	0.64402	U	0.000016	T	0.20455	0.0492	L	0.31804	0.96	0.34917	D	0.748043	D;D	0.89917	0.995;1.0	P;D	0.75484	0.864;0.986	T	0.21042	-1.0257	10	0.72032	D	0.01	.	13.2872	0.60249	0.0:1.0:0.0:0.0	.	127;127	B4DT36;Q9H3T3	.;SEM6B_HUMAN	Q	127	ENSP00000301293:R127Q	ENSP00000301292:R127Q	R	-	2	0	SEMA6B	4507091	0.338000	0.24775	0.998000	0.56505	0.703000	0.40648	0.952000	0.29149	2.076000	0.62316	0.298000	0.19748	CGA	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.612	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6B	protein_coding	OTTHUMT00000458656.2	C	NM_032108	-		4556091	-1	no_errors	ENST00000301293	ensembl	human	known	74_37	missense	SNP	1.000	T
PTPRH	5794	genome.wustl.edu	37	19	55720830	55720830	+	5'Flank	SNP	G	G	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr19:55720830G>T	ENST00000376350.3	-	0	0				PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_5'Flank	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H						apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GGACCCAGGAGTCCCAGGCCT	0.642																																																	0								ENSG00000080031						5.0	6.0	6.0					19																	55720830		2090	4091	6181	PTPRH	SO:0001631	upstream_gene_variant	0			-	HGNC		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43			19.37:g.55720830G>T	Exception_encountered	Somatic	0	14	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	27	18.18	C9JCH2|Q15426|Q2NKN9|Q2NKP0	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000376350.3	37	NULL	CCDS33110.1	19																																																																																			-	-		0.642	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	protein_coding	OTTHUMT00000452649.1	G		-		55720830	-1	no_errors	ENST00000587662	ensembl	human	known	74_37	rna	SNP	0.124	T
RP11-65D24.2	0	genome.wustl.edu	37	13	112240728	112240728	+	3'UTR	SNP	A	A	G			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr13:112240728A>G	ENST00000607406.1	+	0	181				RP11-65D24.2_ENST00000375713.1_Intron																							CTATGGAATAAGCCACACCTC	0.537																																																	0								ENSG00000204398																																			RP11-65D24.2	SO:0001624	3_prime_UTR_variant	0			-	Clone_based_vega_gene																												ENST00000607406.1:c.*178A>G	13.37:g.112240728A>G		Somatic	0	60	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	68	11.69		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000607406.1	37	NULL		13																																																																																			-	-		0.537	RP11-65D24.2-002	KNOWN	basic	processed_transcript	ENSG00000204398	protein_coding	OTTHUMT00000471073.1	A		-		112240728	+1	no_errors	ENST00000607406	ensembl	human	known	74_37	rna	SNP	0.000	G
TLN2	83660	genome.wustl.edu	37	15	63029191	63029191	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr15:63029191G>A	ENST00000561311.1	+	28	3703	c.3473G>A	c.(3472-3474)cGa>cAa	p.R1158Q	TLN2_ENST00000559908.1_3'UTR|TLN2_ENST00000306829.6_Missense_Mutation_p.R1158Q			Q9Y4G6	TLN2_HUMAN	talin 2	1158	Ala-rich.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GATTCTGCTCGAGACGTGATG	0.617																																																	0								ENSG00000171914						55.0	54.0	54.0					15																	63029191		2203	4300	6503	TLN2	SO:0001583	missense	0			-	HGNC	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3473G>A	15.37:g.63029191G>A	ENSP00000453508:p.Arg1158Gln	Somatic	0	55	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	55	16.67	A6NLB8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.R1158Q	ENST00000561311.1	37	c.3473	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502819	0.64298	.	.	ENSG00000171914	ENST00000306829	T	0.12361	2.69	5.12	5.12	0.69794	.	0.115726	0.56097	D	0.000033	T	0.14917	0.0360	L	0.41824	1.3	0.48830	D	0.999712	B	0.18610	0.029	B	0.09377	0.004	T	0.03344	-1.1046	10	0.40728	T	0.16	-11.5678	18.947	0.92626	0.0:0.0:1.0:0.0	.	1158	Q9Y4G6	TLN2_HUMAN	Q	1158	ENSP00000303476:R1158Q	ENSP00000303476:R1158Q	R	+	2	0	TLN2	60816483	0.990000	0.36364	0.988000	0.46212	0.981000	0.71138	6.467000	0.73547	2.545000	0.85829	0.591000	0.81541	CGA	-	superfamily_Vinculin/catenin		0.617	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	protein_coding	OTTHUMT00000257878.2	G		-		63029191	+1	no_errors	ENST00000306829	ensembl	human	known	74_37	missense	SNP	0.875	A
LRRC66	339977	genome.wustl.edu	37	4	52862055	52862055	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr4:52862055G>A	ENST00000343457.3	-	4	1139	c.1133C>T	c.(1132-1134)gCg>gTg	p.A378V		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	378						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CAGGCACACCGCCAGAGCCAG	0.567																																																	0								ENSG00000188993						40.0	43.0	42.0					4																	52862055		1981	4162	6143	LRRC66	SO:0001583	missense	0			-	HGNC	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1133C>T	4.37:g.52862055G>A	ENSP00000341944:p.Ala378Val	Somatic	0	45	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	44	16.67		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.A378V	ENST00000343457.3	37	c.1133	CCDS43229.1	4	.	.	.	.	.	.	.	.	.	.	G	17.02	3.283123	0.59867	.	.	ENSG00000188993	ENST00000343457	T	0.47177	0.85	4.67	4.67	0.58626	.	0.000000	0.45867	D	0.000335	T	0.65533	0.2700	M	0.63843	1.955	0.38985	D	0.95903	D	0.89917	1.0	D	0.91635	0.999	T	0.71220	-0.4657	10	0.87932	D	0	-15.966	14.6507	0.68794	0.0:0.0:1.0:0.0	.	378	Q68CR7	LRC66_HUMAN	V	378	ENSP00000341944:A378V	ENSP00000341944:A378V	A	-	2	0	LRRC66	52556812	1.000000	0.71417	0.731000	0.30826	0.188000	0.23474	6.117000	0.71577	2.306000	0.77630	0.467000	0.42956	GCG	-	NULL		0.567	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC66	protein_coding	OTTHUMT00000361473.1	G	NM_001024611	-		52862055	-1	no_errors	ENST00000343457	ensembl	human	known	74_37	missense	SNP	0.974	A
ATP12A	479	genome.wustl.edu	37	13	25265371	25265371	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr13:25265371C>T	ENST00000381946.3	+	8	1218	c.1051C>T	c.(1051-1053)Ctc>Ttc	p.L351F	ATP12A_ENST00000218548.6_Missense_Mutation_p.L357F			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	351					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GCCCGAGGGCCTCCTGGCCAC	0.562																																					Pancreas(156;1582 1935 18898 22665 26498)												0								ENSG00000075673						69.0	52.0	58.0					13																	25265371		2203	4300	6503	ATP12A	SO:0001583	missense	0			-	HGNC	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1051C>T	13.37:g.25265371C>T	ENSP00000371372:p.Leu351Phe	Somatic	0	29	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	17	45.16	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.L357F	ENST00000381946.3	37	c.1069	CCDS31948.1	13	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195914	0.58126	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.97598	-4.45;-4.45	5.16	4.32	0.51571	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.64402	D	0.000008	D	0.98741	0.9577	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98703	1.0701	10	0.87932	D	0	.	7.7346	0.28806	0.0:0.8168:0.0:0.1832	.	357;351	P54707-2;P54707	.;AT12A_HUMAN	F	357;351	ENSP00000218548:L357F;ENSP00000371372:L351F	ENSP00000218548:L357F	L	+	1	0	ATP12A	24163371	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	5.732000	0.68563	1.414000	0.47017	0.462000	0.41574	CTC	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase		0.562	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP12A	protein_coding	OTTHUMT00000044199.1	C	NM_001676	-		25265371	+1	no_errors	ENST00000218548	ensembl	human	known	74_37	missense	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7578515	7578515	+	Missense_Mutation	SNP	T	T	C	rs137852794		TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr17:7578515T>C	ENST00000269305.4	-	5	604	c.415A>G	c.(415-417)Aag>Gag	p.K139E	TP53_ENST00000413465.2_Missense_Mutation_p.K139E|TP53_ENST00000445888.2_Missense_Mutation_p.K139E|TP53_ENST00000359597.4_Missense_Mutation_p.K139E|TP53_ENST00000455263.2_Missense_Mutation_p.K139E|TP53_ENST00000420246.2_Missense_Mutation_p.K139E|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	139	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:14660794}.|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.K139E(5)|p.A138_P142delAKTCP(4)|p.C135fs*9(3)|p.K139_T140delKT(3)|p.K139Q(2)|p.K139fs*9(2)|p.N131fs*27(2)|p.K139*(2)|p.A138fs*31(1)|p.L137_W146del10(1)|p.K46_T47delKT(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.K7_T8delKT(1)|p.V73fs*9(1)|p.K139fs*31(1)|p.C3fs*9(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.K139fs*11(1)|p.K139fs*4(1)|p.C42fs*9(1)|p.K46E(1)|p.Q136_K139delQLAK(1)|p.C135_T140delCQLAKT(1)|p.K139fs*29(1)|p.K7E(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGGCAGGTCTTGGCCAGTTGG	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	50	Deletion - In frame(15)|Deletion - Frameshift(13)|Substitution - Missense(9)|Whole gene deletion(8)|Substitution - Nonsense(2)|Insertion - Frameshift(1)|Complex - frameshift(1)|Complex - deletion inframe(1)	ovary(8)|urinary_tract(6)|breast(6)|NS(5)|liver(5)|central_nervous_system(4)|lung(4)|bone(4)|upper_aerodigestive_tract(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|stomach(1)|skin(1)|oesophagus(1)						ENSG00000141510						54.0	54.0	54.0					17																	7578515		2203	4300	6503	TP53	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	-	HGNC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.415A>G	17.37:g.7578515T>C	ENSP00000269305:p.Lys139Glu	Somatic	0	43	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	25	58.33	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.K139E	ENST00000269305.4	37	c.415	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	17.47	3.396596	0.62177	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99812	-6.88;-6.88;-6.88;-6.88;-6.88;-6.88;-6.88;-6.88;-6.88	5.27	4.12	0.48240	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99582	0.9849	M	0.66297	2.02	0.51482	D	0.999927	D;D;P;D;D;D;D	0.76494	0.982;0.998;0.923;0.988;0.999;0.993;0.989	P;D;P;P;D;D;P	0.78314	0.841;0.984;0.846;0.709;0.991;0.991;0.74	D	0.97679	1.0171	10	0.87932	D	0	-25.2607	10.2984	0.43637	0.0:0.0:0.1653:0.8347	.	100;139;139;46;139;139;139	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	E	139;139;139;139;139;139;128;46;7;46;7;139	ENSP00000410739:K139E;ENSP00000352610:K139E;ENSP00000269305:K139E;ENSP00000398846:K139E;ENSP00000391127:K139E;ENSP00000391478:K139E;ENSP00000425104:K7E;ENSP00000423862:K46E;ENSP00000424104:K139E	ENSP00000269305:K139E	K	-	1	0	TP53	7519240	1.000000	0.71417	0.967000	0.41034	0.120000	0.20174	5.052000	0.64263	2.120000	0.65058	0.533000	0.62120	AAG	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	T	NM_000546	-		7578515	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	C
PIEZO1	9780	genome.wustl.edu	37	16	88780636	88780645	+	IGR	DEL	GTGTGGGTGT	GTGTGGGTGT	-	rs76217997|rs397761749|rs562672342|rs11278302|rs75686921	byFrequency	TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	GTGTGGGTGT	GTGTGGGTGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr16:88780636_88780645delGTGTGGGTGT	ENST00000301015.9	-	0	8072				MIR4722_ENST00000578292.1_RNA|CTU2_ENST00000312060.5_Splice_Site|CTU2_ENST00000453996.2_Splice_Site|CTU2_ENST00000567949.1_Splice_Site|CTU2_ENST00000378384.3_Splice_Site	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						Ctgtgtacaggtgtgggtgtgtgtgggtgt	0.652														77	0.0153754	0.053	0.0101	5008	,	,		15382	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000174177																																			CTU2	SO:0001628	intergenic_variant	0				HGNC	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88780646_88780655delGTGTGGGTGT		Somatic	NA	NA	NA		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A6NHT9|A7E2B7|Q0KKZ9	Splice_Site	DEL	NA	NA	NA	NA	NA	NA	-	e10+1	ENST00000301015.9	37	c.1310+1_1310+1	CCDS54058.1	16																																																																																			-	-		0.652	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	CTU2	protein_coding	OTTHUMT00000345699.4	GTGTGGGTGT	NM_014745			88780645	+1	no_errors	ENST00000567949	ensembl	human	known	74_37	splice_site_del	DEL	1.000:0.994:0.081:0.045:0.115:0.119:0.133:0.137:0.136:0.126	-
BAI3	577	genome.wustl.edu	37	6	69943233	69943233	+	Silent	SNP	C	C	A			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr6:69943233C>A	ENST00000370598.1	+	18	3353	c.2532C>A	c.(2530-2532)acC>acA	p.T844T	BAI3_ENST00000238918.8_Silent_p.T50T	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	844	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTGTGCTTACCGATGCATCCC	0.483																																																	0								ENSG00000135298						204.0	182.0	189.0					6																	69943233		2203	4300	6503	BAI3	SO:0001819	synonymous_variant	0			-	HGNC	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2532C>A	6.37:g.69943233C>A		Somatic	0	62	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	53	20.90	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.T844	ENST00000370598.1	37	c.2532	CCDS4968.1	6																																																																																			-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom		0.483	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	protein_coding	OTTHUMT00000041120.1	C		-		69943233	+1	no_errors	ENST00000370598	ensembl	human	known	74_37	silent	SNP	1.000	A
LCP1	3936	genome.wustl.edu	37	13	46717508	46717508	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr13:46717508G>T	ENST00000398576.2	-	15	1673	c.1285C>A	c.(1285-1287)Ctc>Atc	p.L429I	LCP1_ENST00000323076.2_Missense_Mutation_p.L429I|LCP1_ENST00000435666.2_5'Flank			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	429	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TTTTCATAGAGCTGGAAGATG	0.423			T	BCL6	NHL																																			Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	0								ENSG00000136167						144.0	127.0	132.0					13																	46717508		2203	4300	6503	LCP1	SO:0001583	missense	0			-	HGNC	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1285C>A	13.37:g.46717508G>T	ENSP00000381581:p.Leu429Ile	Somatic	0	77	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	58	15.94	B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CH-domain,pfam_EF_hand_dom,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom	p.L429I	ENST00000398576.2	37	c.1285	CCDS9403.1	13	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698436	0.88830	.	.	ENSG00000136167	ENST00000323076;ENST00000398576	D;D	0.97575	-4.44;-4.44	5.65	5.65	0.86999	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98172	0.9396	M	0.83223	2.63	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.97628	1.0140	10	0.37606	T	0.19	-12.3178	12.0752	0.53638	0.0779:0.0:0.9221:0.0	.	429	P13796	PLSL_HUMAN	I	429	ENSP00000315757:L429I;ENSP00000381581:L429I	ENSP00000315757:L429I	L	-	1	0	LCP1	45615509	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.061000	0.89467	2.660000	0.90430	0.555000	0.69702	CTC	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.423	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	LCP1	protein_coding	OTTHUMT00000044800.3	G	NM_002298	-		46717508	-1	no_errors	ENST00000323076	ensembl	human	known	74_37	missense	SNP	1.000	T
RIC8A	60626	genome.wustl.edu	37	11	212446	212446	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr11:212446G>A	ENST00000526104.1	+	6	2344	c.1000G>A	c.(1000-1002)Gtg>Atg	p.V334M	RIC8A_ENST00000527696.1_Missense_Mutation_p.V328M|RIC8A_ENST00000325207.5_Missense_Mutation_p.V334M			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	334					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGTAGCTCCCGTGCTGAGCGT	0.587																																																	0								ENSG00000177963						65.0	56.0	59.0					11																	212446		2202	4300	6502	RIC8A	SO:0001583	missense	0			-	HGNC	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.1000G>A	11.37:g.212446G>A	ENSP00000432008:p.Val334Met	Somatic	0	60	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	61	14.08	Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn	p.V334M	ENST00000526104.1	37	c.1000		11	.	.	.	.	.	.	.	.	.	.	G	19.48	3.836459	0.71373	.	.	ENSG00000177963	ENST00000526104;ENST00000325207;ENST00000527696	T;T;T	0.52295	0.67;0.67;0.67	3.89	3.89	0.44902	Synembryn (1);Armadillo-type fold (1);	0.380493	0.26542	N	0.023790	T	0.70107	0.3186	M	0.83483	2.645	0.48762	D	0.999709	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.977;0.968;0.946	T	0.76822	-0.2817	10	0.72032	D	0.01	-25.4202	15.7484	0.77965	0.0:0.0:1.0:0.0	.	328;334;334	Q9NPQ8-2;Q9NPQ8;Q9NPQ8-3	.;RIC8A_HUMAN;.	M	334;334;328	ENSP00000432008:V334M;ENSP00000325941:V334M;ENSP00000434833:V328M	ENSP00000325941:V334M	V	+	1	0	RIC8A	202446	1.000000	0.71417	0.968000	0.41197	0.965000	0.64279	3.971000	0.56831	2.130000	0.65690	0.561000	0.74099	GTG	-	pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn		0.587	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	RIC8A	protein_coding	OTTHUMT00000384761.1	G	NM_021932	-		212446	+1	no_errors	ENST00000325207	ensembl	human	known	74_37	missense	SNP	0.993	A
PSD2	84249	genome.wustl.edu	37	5	139197095	139197095	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr5:139197095A>T	ENST00000274710.3	+	5	1251	c.1046A>T	c.(1045-1047)gAg>gTg	p.E349V		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	349	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGCCGGGGAGTACCTCAGT	0.572																																																	0								ENSG00000146005						96.0	89.0	91.0					5																	139197095		2203	4300	6503	PSD2	SO:0001583	missense	0			-	HGNC	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1046A>T	5.37:g.139197095A>T	ENSP00000274710:p.Glu349Val	Somatic	0	71	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	119	8.40	D3DQD3|Q8N3J8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.E349V	ENST00000274710.3	37	c.1046	CCDS4216.1	5	.	.	.	.	.	.	.	.	.	.	a	25.8	4.675403	0.88445	.	.	ENSG00000146005	ENST00000274710	T	0.57907	0.37	4.5	4.5	0.54988	SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.77246	0.4102	H	0.94503	3.545	0.80722	D	1	P	0.45348	0.856	P	0.58660	0.843	D	0.83994	0.0339	10	0.87932	D	0	.	14.1354	0.65284	1.0:0.0:0.0:0.0	.	349	Q9BQI7	PSD2_HUMAN	V	349	ENSP00000274710:E349V	ENSP00000274710:E349V	E	+	2	0	PSD2	139177279	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.756000	0.91651	1.794000	0.52575	0.378000	0.23410	GAG	-	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom		0.572	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD2	protein_coding	OTTHUMT00000251339.1	A	NM_032289	-		139197095	+1	no_errors	ENST00000274710	ensembl	human	known	74_37	missense	SNP	1.000	T
SOX30	11063	genome.wustl.edu	37	5	157075723	157075723	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr5:157075723C>A	ENST00000265007.6	-	2	1490	c.1149G>T	c.(1147-1149)aaG>aaT	p.K383N	SOX30_ENST00000519442.1_Missense_Mutation_p.K78N|SOX30_ENST00000311371.5_Missense_Mutation_p.K383N	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	383					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AATAGGGTTTCTTTTGTTCTT	0.393																																					Esophageal Squamous(31;525 799 19355 21125 41744)												0								ENSG00000039600						228.0	245.0	239.0					5																	157075723		2203	4300	6503	SOX30	SO:0001583	missense	0			-	HGNC	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.1149G>T	5.37:g.157075723C>A	ENSP00000265007:p.Lys383Asn	Somatic	0	52	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	90	22.41	O94995|Q8IYX6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.K383N	ENST00000265007.6	37	c.1149	CCDS4339.1	5	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685950	0.68157	.	.	ENSG00000039600	ENST00000311371;ENST00000265007;ENST00000519442	D;D;D	0.99515	-6.06;-6.06;-6.06	5.67	5.67	0.87782	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.99677	0.9879	H	0.97758	4.07	0.42518	D	0.992993	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.83275	0.981;0.986;0.996	D	0.97869	1.0285	10	0.87932	D	0	.	11.1967	0.48717	0.0:0.8579:0.0:0.1421	.	78;383;383	B4DXW7;O94993-2;O94993	.;.;SOX30_HUMAN	N	383;383;78	ENSP00000309343:K383N;ENSP00000265007:K383N;ENSP00000427984:K78N	ENSP00000265007:K383N	K	-	3	2	SOX30	157008301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.729000	0.38115	2.665000	0.90641	0.555000	0.69702	AAG	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom		0.393	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SOX30	protein_coding	OTTHUMT00000252571.2	C	NM_007017	-		157075723	-1	no_errors	ENST00000265007	ensembl	human	known	74_37	missense	SNP	1.000	A
GPR6	2830	genome.wustl.edu	37	6	110300822	110300822	+	Silent	SNP	C	C	G			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr6:110300822C>G	ENST00000275169.3	+	1	525	c.507C>G	c.(505-507)tcC>tcG	p.S169S	GPR6_ENST00000414000.2_Silent_p.S184S	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	169					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GCTACCTGTCCCTGTATAACG	0.652																																																	0								ENSG00000146360						76.0	76.0	76.0					6																	110300822		2203	4300	6503	GPR6	SO:0001819	synonymous_variant	0			-	HGNC		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"""GPCR / Class A : Orphans"""	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.507C>G	6.37:g.110300822C>G		Somatic	0	38	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	52	10.34	B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR6,prints_GPR_3/6/12_orphan,prints_GPCR_Rhodpsn	p.S184	ENST00000275169.3	37	c.552	CCDS5079.1	6																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan,prints_GPCR_Rhodpsn		0.652	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR6	protein_coding	OTTHUMT00000041774.1	C		-		110300822	+1	no_errors	ENST00000414000	ensembl	human	known	74_37	silent	SNP	0.895	G
HIST2H2BF	440689	genome.wustl.edu	37	1	149783702	149783702	+	Silent	SNP	G	G	A			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr1:149783702G>A	ENST00000369167.1	-	1	212	c.177C>T	c.(175-177)gcC>gcT	p.A59A	HIST2H2BF_ENST00000545683.1_Silent_p.A59A|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000427880.2_Silent_p.A59A	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	59					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					TGATGCCCATGGCCTTGGACG	0.607																																																	0								ENSG00000203814						136.0	125.0	129.0					1																	149783702		2203	4297	6500	HIST2H2BF	SO:0001819	synonymous_variant	0			-	HGNC	BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"""Histones / Replication-dependent"""	24700	protein-coding gene	gene with protein product			"""histone 2, H2bf"""				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.177C>T	1.37:g.149783702G>A		Somatic	0	110	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	90	67	57.32	A8K0U9|B4DLA9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.A59	ENST00000369167.1	37	c.177	CCDS30846.1	1																																																																																			-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.607	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2BF	protein_coding	OTTHUMT00000033453.2	G	NM_001024599	-		149783702	-1	no_errors	ENST00000427880	ensembl	human	known	74_37	silent	SNP	1.000	A
PIGR	5284	genome.wustl.edu	37	1	207110639	207110639	+	Silent	SNP	G	G	A	rs142351595		TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr1:207110639G>A	ENST00000356495.4	-	4	1029	c.846C>T	c.(844-846)gtC>gtT	p.V282V		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	282	Ig-like V-type 3.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGGTGTTGACGACCACGTCAC	0.597																																																	0								ENSG00000162896	G		0,4406		0,0,2203	80.0	77.0	78.0		846	3.8	0.8	1	dbSNP_134	78	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PIGR	NM_002644.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		282/765	207110639	2,13004	2203	4300	6503	PIGR	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.846C>T	1.37:g.207110639G>A		Somatic	0	43	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	43	15.69	Q68D81|Q8IZY7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.V282	ENST00000356495.4	37	c.846	CCDS1474.1	1																																																																																			-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr		0.597	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGR	protein_coding	OTTHUMT00000088975.1	G	NM_002644	rs142351595		207110639	-1	no_errors	ENST00000356495	ensembl	human	known	74_37	silent	SNP	0.767	A
FAM27L	284123	genome.wustl.edu	37	17	21825355	21825355	+	lincRNA	SNP	C	C	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr17:21825355C>T	ENST00000426869.3	+	0	59					NR_028336.1		Q8N5T8	FA27L_HUMAN	family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		ccagggttgtcgtagaaacca	0.617																																																	0								ENSG00000178130																																			FAM27L			0			-	HGNC	BC031617		17p11.2	2014-01-28				ENSG00000178130			32410	protein-coding gene	gene with protein product							Standard	NR_028336		Approved	MGC35151	uc002gyz.4	Q8N5T8			17.37:g.21825355C>T		Somatic	0	27	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000426869.3	37	NULL		17																																																																																			-	-		0.617	FAM27L-001	KNOWN	basic	lincRNA	FAM27L	lincRNA	OTTHUMT00000389059.2	C	NM_203392	-		21825355	+1	no_errors	ENST00000426869	ensembl	human	known	74_37	rna	SNP	0.001	T
SORCS3	22986	genome.wustl.edu	37	10	106970991	106970991	+	Silent	SNP	C	C	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr10:106970991C>T	ENST00000369701.3	+	17	2585	c.2358C>T	c.(2356-2358)agC>agT	p.S786S	SORCS3_ENST00000369699.4_Silent_p.S72S	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	786					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)		TTGGTCAAAGCTACCTTAACA	0.468																																					NSCLC(116;1497 1690 7108 13108 14106)												0								ENSG00000156395						104.0	84.0	91.0					10																	106970991		2203	4300	6503	SORCS3	SO:0001819	synonymous_variant	0			-	HGNC	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.2358C>T	10.37:g.106970991C>T		Somatic	0	42	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	20	25.93	Q5VXF9|Q9NQJ2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.S786	ENST00000369701.3	37	c.2358	CCDS7558.1	10																																																																																			-	smart_VPS10		0.468	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	protein_coding	OTTHUMT00000050221.1	C	NM_014978	-		106970991	+1	no_errors	ENST00000369701	ensembl	human	known	74_37	silent	SNP	1.000	T
HNRNPL	3191	genome.wustl.edu	37	19	39329656	39329656	+	Splice_Site	SNP	C	C	G			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr19:39329656C>G	ENST00000221419.5	-	9	1600		c.e9-1		HNRNPL_ENST00000600873.1_Splice_Site|AC104534.3_ENST00000594769.1_Splice_Site	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TGAATTTCACCTTGGGGAGAG	0.572																																																	0								ENSG00000104824						63.0	65.0	64.0					19																	39329656		2203	4300	6503	HNRNPL	SO:0001630	splice_region_variant	0			-	HGNC	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1234-1G>C	19.37:g.39329656C>G		Somatic	0	45	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	89	13.59	A6ND69|A6NIT8|Q9H3P3	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e9-1	ENST00000221419.5	37	c.1234-1	CCDS33015.1	19	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486950	0.84854	.	.	ENSG00000104824	ENST00000221419;ENST00000388749;ENST00000388750	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2309	0.93839	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HNRNPL	44021496	1.000000	0.71417	0.998000	0.56505	0.818000	0.46254	7.561000	0.82288	2.842000	0.97951	0.655000	0.94253	.	-	-		0.572	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPL	protein_coding	OTTHUMT00000462670.1	C		-	Intron	39329656	-1	no_errors	ENST00000221419	ensembl	human	known	74_37	splice_site	SNP	1.000	G
MMAA	166785	genome.wustl.edu	37	4	146575181	146575181	+	Silent	SNP	G	G	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr4:146575181G>T	ENST00000281317.5	+	6	2065	c.855G>T	c.(853-855)ctG>ctT	p.L285L	MMAA_ENST00000541599.1_Silent_p.L4L	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	285					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|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)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGCAGATCTGGTAGCTGTAA	0.403																																																	0								ENSG00000151611						207.0	201.0	203.0					4																	146575181		2203	4300	6503	MMAA	SO:0001819	synonymous_variant	0			-	HGNC	AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"""methylmalonic aciduria (cobalamin deficiency) type A"""			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.855G>T	4.37:g.146575181G>T		Somatic	0	41	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	66	8.33	B3KX40|Q495G7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ArgK,superfamily_P-loop_NTPase	p.G257C	ENST00000281317.5	37	c.769	CCDS3766.1	4																																																																																			-	NULL		0.403	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMAA	protein_coding	OTTHUMT00000364668.2	G		-		146575181	+1	no_errors	ENST00000511969	ensembl	human	known	74_37	missense	SNP	1.000	T
SDSL	113675	genome.wustl.edu	37	12	113875883	113875883	+	Nonstop_Mutation	SNP	G	G	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr12:113875883G>T	ENST00000403593.4	+	8	1251	c.989G>T	c.(988-990)tGa>tTa	p.*330L	SDSL_ENST00000345635.4_Nonstop_Mutation_p.*330L			Q96GA7	SDSL_HUMAN	serine dehydratase-like	0					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						GGCCAGGTCTGAGGGGTCCCA	0.592																																																	0								ENSG00000139410						63.0	70.0	68.0					12																	113875883		2203	4300	6503	SDSL	SO:0001578	stop_lost	0			-	HGNC	AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.989G>T	12.37:g.113875883G>T	ENSP00000385790:p.*330Leuext*64	Somatic	0	51	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	56	12.50		Nonstop_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF	p.*330L	ENST00000403593.4	37	c.989	CCDS9170.1	12	.	.	.	.	.	.	.	.	.	.	G	7.336	0.619970	0.14193	.	.	ENSG00000139410	ENST00000403593;ENST00000345635	.	.	.	4.34	2.42	0.29668	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.6173	0.22784	0.241:0.0:0.759:0.0	.	.	.	.	L	330	.	.	X	+	2	2	SDSL	112360266	0.967000	0.33354	0.022000	0.16811	0.011000	0.07611	0.711000	0.25764	0.375000	0.24679	0.561000	0.74099	TGA	-	NULL		0.592	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SDSL	protein_coding	OTTHUMT00000404782.1	G	NM_138432	-		113875883	+1	no_errors	ENST00000345635	ensembl	human	known	74_37	nonstop	SNP	0.242	T
F5	2153	genome.wustl.edu	37	1	169510220	169510220	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr1:169510220G>A	ENST00000367797.3	-	13	4309	c.4108C>T	c.(4108-4110)Ctc>Ttc	p.L1370F	F5_ENST00000367796.3_Missense_Mutation_p.L1375F	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1370	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.L1370F(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTCTGGCTGAGGTCTAGAGAA	0.517																																																	1	Substitution - Missense(1)	kidney(1)						ENSG00000198734						160.0	177.0	171.0					1																	169510220		2203	4300	6503	F5	SO:0001583	missense	0			-	HGNC	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4108C>T	1.37:g.169510220G>A	ENSP00000356771:p.Leu1370Phe	Somatic	0	177	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	73	10.98	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.L1370F	ENST00000367797.3	37	c.4108	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	N	6.813	0.519025	0.13005	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.35789	1.29;1.29	4.3	1.27	0.21489	.	0.912622	0.09500	N	0.793686	T	0.12603	0.0306	M	0.72353	2.195	0.22199	N	0.999292	B	0.12013	0.005	B	0.10450	0.005	T	0.29792	-1.0000	9	0.09338	T	0.73	.	4.856	0.13559	0.1951:0.0:0.632:0.1729	.	1370	P12259	FA5_HUMAN	F	1370;1375	ENSP00000356771:L1370F;ENSP00000356770:L1375F	ENSP00000356770:L1375F	L	-	1	0	F5	167776844	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.385000	0.07379	0.368000	0.24481	0.563000	0.77884	CTC	-	NULL		0.517	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	protein_coding	OTTHUMT00000083712.1	G	NM_000130	-		169510220	-1	no_errors	ENST00000367797	ensembl	human	known	74_37	missense	SNP	0.003	A
BRINP2	57795	genome.wustl.edu	37	1	177245380	177245380	+	Silent	SNP	T	T	C			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr1:177245380T>C	ENST00000361539.4	+	6	1134	c.822T>C	c.(820-822)gcT>gcC	p.A274A	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	274	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											GCTTTGTAGCTGCAGCACTCA	0.547																																																	0								ENSG00000198797						70.0	61.0	64.0					1																	177245380		2203	4300	6503	BRINP2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.822T>C	1.37:g.177245380T>C		Somatic	0	58	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	37	26.00	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_MACPF,smart_MACPF	p.A274	ENST00000361539.4	37	c.822	CCDS1320.1	1																																																																																			-	smart_MACPF		0.547	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP2	protein_coding	OTTHUMT00000084599.1	T	NM_021165	-		177245380	+1	no_errors	ENST00000361539	ensembl	human	known	74_37	silent	SNP	0.001	C
TEX2	55852	genome.wustl.edu	37	17	62223815	62223815	+	IGR	SNP	A	A	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr17:62223815A>T	ENST00000583097.1	-	0	4852				SNORA76_ENST00000408535.2_lincRNA|SNORD104_ENST00000362883.1_RNA			Q8IWB9	TEX2_HUMAN	testis expressed 2						signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CGGCCTTTTTAACCGCGAGCG	0.617																																																	0								ENSG00000266402						119.0	126.0	124.0					17																	62223815		876	1991	2867	SNORA76	SO:0001628	intergenic_variant	0			-	HGNC	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9			17.37:g.62223815A>T		Somatic	0	45	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	28	54.84	Q6AHZ5|Q8N3L0|Q9C0C5	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000583097.1	37	NULL		17																																																																																			-	-		0.617	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	SNORA76	protein_coding	OTTHUMT00000443745.1	A	NM_018469	-		62223815	+1	no_errors	ENST00000408535	ensembl	human	known	74_37	rna	SNP	1.000	T
USP47	55031	genome.wustl.edu	37	11	11970051	11970052	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr11:11970051_11970052insA	ENST00000399455.2	+	23	3474_3475	c.3354_3355insA	c.(3355-3357)aaafs	p.K1119fs	USP47_ENST00000527733.1_Frame_Shift_Ins_p.K1099fs|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000339865.5_Frame_Shift_Ins_p.K1031fs	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1119					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		GGAGAGCACTTAAAAAAGGAGA	0.307																																																	0								ENSG00000170242																																			USP47	SO:0001589	frameshift_variant	0				HGNC	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.3360dupA	11.37:g.11970057_11970057dupA	ENSP00000382382:p.Lys1119fs	Somatic	0	21	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78	B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.G1120fs	ENST00000399455.2	37	c.3354_3355		11																																																																																			-	NULL		0.307	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	USP47	protein_coding	OTTHUMT00000385853.2	-	NM_017944			11970052	+1	no_errors	ENST00000399455	ensembl	human	known	74_37	frame_shift_ins	INS	0.999:1.000	A
OR5H6	79295	genome.wustl.edu	37	3	97983488	97983496	+	In_Frame_Del	DEL	TGTAACCAC	TGTAACCAC	-	rs145155372|rs149984587|rs369030566|rs398062605|rs74203917|rs372483864	byFrequency	TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	TGTAACCAC	TGTAACCAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr3:97983488_97983496delTGTAACCAC	ENST00000383696.2	+	1	401_409	c.360_368delTGTAACCAC	c.(358-369)cttgtaaccact>ctt	p.VTT124del	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTTTTTCCCTTGTAACCACTGTAACCACA	0.383														1588	0.317093	0.2141	0.3372	5008	,	,		24385	0.1319		0.5616	False		,,,				2504	0.3814																0								ENSG00000230301			1036,3228		131,774,1227						2.2	0.0		dbSNP_134	100	4355,3849		1213,1929,960	no	coding	OR5H6	NM_001005479.1		1344,2703,2187	A1A1,A1R,RR		46.9161,24.2964,43.2387				5391,7077				OR5H6	SO:0001651	inframe_deletion	0				HGNC	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.360_368delTGTAACCAC	3.37:g.97983497_97983505delTGTAACCAC	ENSP00000373196:p.Val124_Thr126del	Somatic	NA	NA	NA		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q6IF88	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.VTT124in_frame_del	ENST00000383696.2	37	c.360_368	CCDS33800.1	3																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.383	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H6	protein_coding	OTTHUMT00000359111.2	TGTAACCAC				97983496	+1	no_errors	ENST00000383696	ensembl	human	known	74_37	in_frame_del	DEL	0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000	-
ANKRD17	26057	genome.wustl.edu	37	4	73957313	73957313	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr4:73957313G>T	ENST00000358602.4	-	29	6148	c.6032C>A	c.(6031-6033)aCa>aAa	p.T2011K	ANKRD17_ENST00000330838.6_Missense_Mutation_p.T1760K|ANKRD17_ENST00000509867.2_Missense_Mutation_p.T1898K	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2011	Ser-rich.|Thr-rich.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGTGACTGTTGTTGTGGTGGC	0.478																																																	0								ENSG00000132466						430.0	385.0	400.0					4																	73957313		2203	4300	6503	ANKRD17	SO:0001583	missense	0			-	HGNC	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.6032C>A	4.37:g.73957313G>T	ENSP00000351416:p.Thr2011Lys	Somatic	0	25	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.T2011K	ENST00000358602.4	37	c.6032	CCDS34004.1	4	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802956	0.70682	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.65916	-0.18;-0.16;-0.15	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000004	T	0.66036	0.2749	L	0.29908	0.895	0.48236	D	0.99961	P;P;P;P	0.50819	0.939;0.939;0.9;0.9	P;P;P;P	0.53401	0.725;0.725;0.535;0.535	T	0.67841	-0.5566	10	0.72032	D	0.01	.	19.9089	0.97019	0.0:0.0:1.0:0.0	.	2010;1760;2011;1898	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	K	2011;1418;1760;1898;395	ENSP00000351416:T2011K;ENSP00000332265:T1760K;ENSP00000427151:T1898K	ENSP00000332265:T1760K	T	-	2	0	ANKRD17	74176177	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	4.570000	0.60872	2.814000	0.96858	0.585000	0.79938	ACA	-	NULL		0.478	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	protein_coding	OTTHUMT00000362475.1	G	NM_032217	-		73957313	-1	no_errors	ENST00000358602	ensembl	human	known	74_37	missense	SNP	1.000	T
RP11-435B5.5	0	genome.wustl.edu	37	1	143378853	143378853	+	lincRNA	SNP	C	C	T	rs200183428	byFrequency	TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr1:143378853C>T	ENST00000428624.1	+	0	1573				RP11-435B5.4_ENST00000423249.1_lincRNA|RP11-435B5.3_ENST00000430699.1_lincRNA																							AGCTAATGAACGAATGTGATC	0.313																																																	0								ENSG00000238261																																			RP11-435B5.5			0			-	Clone_based_vega_gene																													1.37:g.143378853C>T		Somatic	1	144	0.69		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	31	16.22		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000428624.1	37	NULL		1																																																																																			-	-		0.313	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	LOC101927345	lincRNA	OTTHUMT00000037971.1	C		rs200183428		143378853	+1	no_errors	ENST00000423394	ensembl	human	known	74_37	rna	SNP	0.001	T
TTN	7273	genome.wustl.edu	37	2	179403993	179403993	+	Intron	SNP	G	G	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr2:179403993G>T	ENST00000591111.1	-	303	93985				TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588244.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000589434.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			AAATATAAGTGGAAAGCACAC	0.378																																																	0								ENSG00000237298						70.0	63.0	65.0					2																	179403993		1860	4093	5953	TTN-AS1	SO:0001627	intron_variant	0			-	HGNC	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.93761-15C>A	2.37:g.179403993G>T		Somatic	0	60	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	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	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000591111.1	37	NULL		2																																																																																			-	-		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN-AS1	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179403993	+1	no_errors	ENST00000419746	ensembl	human	known	74_37	rna	SNP	0.000	T
FLNB	2317	genome.wustl.edu	37	3	58120362	58120362	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr3:58120362C>T	ENST00000295956.4	+	27	4699	c.4534C>T	c.(4534-4536)Ctt>Ttt	p.L1512F	FLNB_ENST00000493452.1_Missense_Mutation_p.L1343F|FLNB_ENST00000419752.2_Missense_Mutation_p.L1343F|FLNB_ENST00000358537.3_Missense_Mutation_p.L1512F|FLNB_ENST00000357272.4_Missense_Mutation_p.L1512F|FLNB_ENST00000490882.1_Missense_Mutation_p.L1543F|FLNB_ENST00000429972.2_Missense_Mutation_p.L1512F|FLNB_ENST00000348383.5_Missense_Mutation_p.L1512F	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1512					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGTCAAGGTCCTTCCCACATA	0.493																																																	0								ENSG00000136068						201.0	188.0	192.0					3																	58120362		2203	4300	6503	FLNB	SO:0001583	missense	0			-	HGNC	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.4534C>T	3.37:g.58120362C>T	ENSP00000295956:p.Leu1512Phe	Somatic	0	67	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	60	27.71	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.L1512F	ENST00000295956.4	37	c.4534	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	C	19.92	3.915833	0.73098	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.92348	-3.02;-3.02;-2.99;-3.02;-3.02;-3.02;-2.99;-3.02	5.81	5.81	0.92471	Immunoglobulin E-set (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.95494	0.8536	M	0.76838	2.35	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;0.997;0.997;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.994;0.98;0.996;0.998;0.998;0.998	D	0.94507	0.7715	10	0.40728	T	0.16	.	13.298	0.60309	0.0:0.928:0.0:0.072	.	1512;1543;1343;1343;1512;1512	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	F	1512;1543;1512;1512;1512;1512;1343;1343	ENSP00000295956:L1512F;ENSP00000420213:L1543F;ENSP00000351339:L1512F;ENSP00000415599:L1512F;ENSP00000232447:L1512F;ENSP00000349819:L1512F;ENSP00000418510:L1343F;ENSP00000414532:L1343F	ENSP00000295956:L1512F	L	+	1	0	FLNB	58095402	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.674000	0.46867	2.738000	0.93877	0.655000	0.94253	CTT	-	superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.493	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	protein_coding	OTTHUMT00000353569.1	C	NM_001457	-		58120362	+1	no_errors	ENST00000295956	ensembl	human	known	74_37	missense	SNP	1.000	T
NGB	58157	genome.wustl.edu	37	14	77732947	77732947	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr14:77732947G>A	ENST00000298352.4	-	4	762	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	MIR1260A_ENST00000408827.1_RNA	NM_021257.3	NP_067080.1	Q9NPG2	NGB_HUMAN	neuroglobin	130	Globin.				apoptotic process (GO:0006915)|oxygen transport (GO:0015671)	mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		CAGGCAGCCCGTGTGGCTGGT	0.632																																																	0								ENSG00000165553						54.0	49.0	51.0					14																	77732947		2203	4300	6503	NGB	SO:0001583	missense	0			-	HGNC	AJ245946	CCDS9856.1	14q24.3	2014-06-13			ENSG00000165553	ENSG00000165553			14077	protein-coding gene	gene with protein product		605304				11029004, 17210637	Standard	NM_021257		Approved		uc001xtg.1	Q9NPG2	OTTHUMG00000171558	ENST00000298352.4:c.388C>T	14.37:g.77732947G>A	ENSP00000298352:p.Arg130Trp	Somatic	0	68	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	68	20.00		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Globin,superfamily_Globin-like,pfscan_Globin	p.R130W	ENST00000298352.4	37	c.388	CCDS9856.1	14	.	.	.	.	.	.	.	.	.	.	G	15.19	2.761353	0.49468	.	.	ENSG00000165553	ENST00000298352	.	.	.	4.76	-0.357	0.12579	Globin-like (1);Globin, structural domain (1);	0.115150	0.64402	D	0.000012	T	0.46502	0.1396	M	0.68952	2.095	0.26678	N	0.971606	D	0.61697	0.99	P	0.48304	0.573	T	0.55029	-0.8204	9	0.72032	D	0.01	.	14.6407	0.68723	0.0:0.0:0.4725:0.5275	.	130	Q9NPG2	NGB_HUMAN	W	130	.	ENSP00000298352:R130W	R	-	1	2	NGB	76802700	0.981000	0.34729	0.003000	0.11579	0.542000	0.35054	2.294000	0.43567	0.031000	0.15407	-0.397000	0.06425	CGG	-	superfamily_Globin-like,pfscan_Globin		0.632	NGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NGB	protein_coding	OTTHUMT00000414194.1	G	NM_021257	-		77732947	-1	no_errors	ENST00000298352	ensembl	human	known	74_37	missense	SNP	0.054	A
FKBP9P1	360132	genome.wustl.edu	37	7	55750501	55750501	+	RNA	SNP	G	G	A	rs200141514		TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr7:55750501G>A	ENST00000455909.1	-	0	716					NR_027340.1|NR_027342.1		Q75LS8	FKB9L_HUMAN							protein folding (GO:0006457)		calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5						CCACCTGGGCGTGAATGTACT	0.537																																																	0								ENSG00000176826						39.0	39.0	39.0					7																	55750501		692	1590	2282	FKBP9L			0			-	HGNC																													7.37:g.55750501G>A		Somatic	0	62	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	74	31.19	B2R7H1	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000455909.1	37	NULL		7																																																																																			-	-		0.537	FKBP9L-002	KNOWN	basic	processed_transcript	FKBP9L	pseudogene	OTTHUMT00000251473.2	G		rs200141514		55750501	-1	no_errors	ENST00000455909	ensembl	human	known	74_37	rna	SNP	0.951	A
PCDH11Y	83259	genome.wustl.edu	37	Y	4967352	4967352	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chrY:4967352G>T	ENST00000333703.4	+	5	2213	c.1700G>T	c.(1699-1701)gGg>gTg	p.G567V	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.G578V|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.G578V	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	578	Cadherin 5. {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)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AAAGATAATGGGGTACCACCC	0.378																																																	0								ENSG00000099715																																			PCDH11Y	SO:0001583	missense	0			-	HGNC	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.1700G>T	Y.37:g.4967352G>T	ENSP00000330552:p.Gly567Val	Somatic	0	16	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	5	54.55	Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G578V	ENST00000333703.4	37	c.1733	CCDS14776.1	Y																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.378	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH11Y	protein_coding	OTTHUMT00000084979.2	G	NM_032973	-		4967352	+1	no_errors	ENST00000215473	ensembl	human	known	74_37	missense	SNP	0.997	T
HYDIN	54768	genome.wustl.edu	37	16	70926319	70926319	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr16:70926319A>T	ENST00000393567.2	-	56	9512	c.9362T>A	c.(9361-9363)tTc>tAc	p.F3121Y		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3121					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGCATGGAAGAAAACTTGGAC	0.463																																																	0								ENSG00000157423						147.0	158.0	154.0					16																	70926319		1869	4097	5966	HYDIN	SO:0001583	missense	0			-	HGNC	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.9362T>A	16.37:g.70926319A>T	ENSP00000377197:p.Phe3121Tyr	Somatic	0	112	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	98	8.41	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_P-loop_NTPase,superfamily_PapD-like	p.F3121Y	ENST00000393567.2	37	c.9362	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	A	11.86	1.765338	0.31228	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00848	5.62	4.86	1.36	0.22044	.	1.206350	0.06741	U	0.778335	T	0.00845	0.0028	L	0.44542	1.39	0.09310	N	1	P	0.43788	0.817	B	0.30716	0.119	T	0.47509	-0.9112	10	0.12430	T	0.62	.	7.4832	0.27417	0.7313:0.0:0.2687:0.0	.	3120	F8WD23	.	Y	3121;3120	ENSP00000377197:F3121Y	ENSP00000313052:F3120Y	F	-	2	0	HYDIN	69483820	0.037000	0.19845	0.480000	0.27341	0.512000	0.34134	0.817000	0.27281	0.693000	0.31634	0.358000	0.22013	TTC	-	NULL		0.463	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	protein_coding	OTTHUMT00000398624.3	A		-		70926319	-1	no_errors	ENST00000393567	ensembl	human	putative	74_37	missense	SNP	0.012	T
TMCC3	57458	genome.wustl.edu	37	12	94975900	94975900	+	Missense_Mutation	SNP	G	G	A	rs374305237		TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr12:94975900G>A	ENST00000261226.4	-	2	624	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	TMCC3_ENST00000551457.1_Missense_Mutation_p.R134C	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	165						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TTCAAAGAGCGATGTATATCC	0.498																																																	0								ENSG00000057704						99.0	102.0	101.0					12																	94975900		2203	4300	6503	TMCC3	SO:0001583	missense	0			-	HGNC	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.493C>T	12.37:g.94975900G>A	ENSP00000261226:p.Arg165Cys	Somatic	0	54	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	68	9.33	Q8IWB2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Predicted_TM_coiled-coil_2	p.R165C	ENST00000261226.4	37	c.493	CCDS31877.1	12	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342027	0.41498	.	.	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.44482	0.92;0.92	4.65	3.76	0.43208	.	0.525520	0.23828	N	0.044165	T	0.32496	0.0831	L	0.29908	0.895	0.32110	N	0.589425	B	0.23591	0.088	B	0.17979	0.02	T	0.47018	-0.9149	10	0.87932	D	0	-12.1157	14.1137	0.65139	0.0738:0.0:0.9262:0.0	.	165	Q9ULS5	TMCC3_HUMAN	C	165;134	ENSP00000261226:R165C;ENSP00000449888:R134C	ENSP00000261226:R165C	R	-	1	0	TMCC3	93500031	0.831000	0.29352	0.199000	0.23439	0.787000	0.44495	3.675000	0.54605	1.572000	0.49736	0.561000	0.74099	CGC	-	pfam_Predicted_TM_coiled-coil_2		0.498	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCC3	protein_coding	OTTHUMT00000408113.1	G	NM_020698	-		94975900	-1	no_errors	ENST00000261226	ensembl	human	known	74_37	missense	SNP	0.935	A
GRM3	2913	genome.wustl.edu	37	7	86415655	86415655	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A1L1-01A-11D-A24N-09	TCGA-DX-A1L1-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30c48200-0b11-4628-a643-ecba777aad1c	5bdd61e4-1fc4-453c-aeda-9c0a0408914e	g.chr7:86415655C>T	ENST00000361669.2	+	3	1646	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	GRM3_ENST00000394720.2_Missense_Mutation_p.R181C|GRM3_ENST00000536043.1_Missense_Mutation_p.R55C|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.R183C	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	183					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.R183C(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TGATAAGTCGCGCTATGATTA	0.562																																					GBM(52;969 1098 3139 52280)												1	Substitution - Missense(1)	pancreas(1)						ENSG00000198822						134.0	129.0	131.0					7																	86415655		2203	4300	6503	GRM3	SO:0001583	missense	0			-	HGNC		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.547C>T	7.37:g.86415655C>T	ENSP00000355316:p.Arg183Cys	Somatic	0	51	0.00		0.603585664208657	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	59	35.16	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B	p.R183C	ENST00000361669.2	37	c.547	CCDS5600.1	7	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837511	0.91117	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93	5.83	5.83	0.93111	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94722	0.8297	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.95413	0.8500	10	0.87932	D	0	.	19.122	0.93367	0.0:1.0:0.0:0.0	.	55;183;183	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	C	183;55;55;183;181	ENSP00000355316:R183C;ENSP00000405427:R55C;ENSP00000441407:R55C;ENSP00000398767:R183C;ENSP00000378209:R181C	ENSP00000355316:R183C	R	+	1	0	GRM3	86253591	1.000000	0.71417	0.968000	0.41197	0.981000	0.71138	4.667000	0.61561	2.770000	0.95276	0.655000	0.94253	CGC	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3		0.562	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	protein_coding	OTTHUMT00000253362.2	C		-		86415655	+1	no_errors	ENST00000361669	ensembl	human	known	74_37	missense	SNP	1.000	T
