#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ABCA4	24	genome.wustl.edu	37	1	94497396	94497396	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:94497396G>A	ENST00000370225.3	-	27	4152	c.4066C>T	c.(4066-4068)Cag>Tag	p.Q1356*		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1356					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.Q1356*(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGCAGCGCCTGCACATGCTGG	0.642																																																	1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)											83.0	77.0	79.0					1																	94497396		2203	4300	6503	SO:0001587	stop_gained	0			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.4066C>T	1.37:g.94497396G>A	ENSP00000359245:p.Gln1356*		O15112|O60438|O60915|Q0QD48|Q4LE31	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.Q1356*	ENST00000370225.3	37	c.4066	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.314171	0.99133	.	.	ENSG00000198691	ENST00000546054;ENST00000370225	.	.	.	5.78	4.85	0.62838	.	0.705821	0.13727	N	0.366984	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	9.6255	0.39748	0.0:0.1153:0.6134:0.2712	.	.	.	.	X	148;1356	.	ENSP00000359245:Q1356X	Q	-	1	0	ABCA4	94269984	1.000000	0.71417	0.997000	0.53966	0.408000	0.30992	2.438000	0.44837	1.409000	0.46915	0.650000	0.86243	CAG	ABCA4	-	tigrfam_Rim_ABC_transpt	ENSG00000198691		0.642	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1		0.00	110	0	G	NM_000350		94497396	-1			no_errors	ENST00000370225	ensembl	human	known	74_37	nonsense	6.25	45	3	SNP	0.923	A
ABHD17A	81926	genome.wustl.edu	37	19	1881527	1881527	+	Frame_Shift_Del	DEL	G	G	-	rs377128884		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr19:1881527delG	ENST00000292577.7	-	2	472	c.39delC	c.(37-39)ttcfs	p.F13fs	ABHD17A_ENST00000590661.1_Frame_Shift_Del_p.F13fs|ABHD17A_ENST00000250974.9_Frame_Shift_Del_p.F13fs	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	13						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.F13delF(1)									GCGGGCAGCAGAAGAGGCAGC	0.756																																																	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)											9.0	13.0	11.0					19																	1881527		2041	4133	6174	SO:0001589	frameshift_variant	0			BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"""Abhydrolase domain containing"""	28756	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 27"", ""family with sequence similarity 108, member A1"""	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.39delC	19.37:g.1881527delG	ENSP00000292577:p.Phe13fs		A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Frame_Shift_Del	DEL	pfam_Dienelactn_hydro	p.C14fs	ENST00000292577.7	37	c.39	CCDS45902.1	19																																																																																			ABHD17A	-	NULL	ENSG00000129968		0.756	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD17A	HGNC	protein_coding	OTTHUMT00000415556.2		0.00	34	0	G	NM_031213		1881527	-1	tier1		no_errors	ENST00000250974	ensembl	human	known	74_37	frame_shift_del	16.67	20	4	DEL	1.000	-
ABHD17A	81926	genome.wustl.edu	37	19	1881529	1881530	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr19:1881529_1881530delAG	ENST00000292577.7	-	2	469_470	c.36_37delCT	c.(34-39)ctcttcfs	p.F13fs	ABHD17A_ENST00000590661.1_Frame_Shift_Del_p.F13fs|ABHD17A_ENST00000250974.9_Frame_Shift_Del_p.F13fs	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	13						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										GGGCAGCAGAAGAGGCAGCAGA	0.762																																																	0																																										SO:0001589	frameshift_variant	0			BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"""Abhydrolase domain containing"""	28756	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 27"", ""family with sequence similarity 108, member A1"""	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.36_37delCT	19.37:g.1881531_1881532delAG	ENSP00000292577:p.Phe13fs		A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Frame_Shift_Del	DEL	pfam_Dienelactn_hydro	p.F13fs	ENST00000292577.7	37	c.37_36	CCDS45902.1	19																																																																																			ABHD17A	-	NULL	ENSG00000129968		0.762	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD17A	HGNC	protein_coding	OTTHUMT00000415556.2		0.00	32	0	AG	NM_031213		1881530	-1	tier1		no_errors	ENST00000250974	ensembl	human	known	74_37	frame_shift_del	16.67	20	4	DEL	1.000:0.997	-
ACO1	48	genome.wustl.edu	37	9	32433728	32433729	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr9:32433728_32433729delTG	ENST00000309951.6	+	16	1992_1993	c.1854_1855delTG	c.(1852-1857)actgtgfs	p.V619fs	ACO1_ENST00000379923.1_Frame_Shift_Del_p.V619fs|ACO1_ENST00000541043.1_Frame_Shift_Del_p.V520fs	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	619					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TTTTTAAGACTGTGAATGAAAG	0.347																																																	0																																										SO:0001589	frameshift_variant	0			M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.1854_1855delTG	9.37:g.32433730_32433731delTG	ENSP00000309477:p.Val619fs		D3DRK7|Q14652|Q5VZA7	Frame_Shift_Del	DEL	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.V619fs	ENST00000309951.6	37	c.1854_1855	CCDS6525.1	9																																																																																			ACO1	-	superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	ENSG00000122729		0.347	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACO1	HGNC	protein_coding	OTTHUMT00000051998.3		0.00	54	0	TG	NM_002197		32433729	+1	tier1		no_errors	ENST00000309951	ensembl	human	known	74_37	frame_shift_del	42.31	30	22	DEL	0.998:1.000	-
ACSM5	54988	genome.wustl.edu	37	16	20432632	20432632	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:20432632G>T	ENST00000331849.4	+	5	823	c.676G>T	c.(676-678)Gcc>Tcc	p.A226S		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	226					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						AGACCCGCTGGCCATCTACTT	0.547																																																	0													56.0	54.0	55.0					16																	20432632		2203	4300	6503	SO:0001583	missense	0				CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.676G>T	16.37:g.20432632G>T	ENSP00000327916:p.Ala226Ser		Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.A226S	ENST00000331849.4	37	c.676	CCDS10585.1	16	.	.	.	.	.	.	.	.	.	.	G	9.967	1.224323	0.22457	.	.	ENSG00000183549	ENST00000331849	T	0.42131	0.98	4.43	1.1	0.20463	AMP-dependent synthetase/ligase (1);	0.631802	0.14744	N	0.300998	T	0.33876	0.0878	L	0.50333	1.59	0.09310	N	0.999998	B	0.15719	0.014	B	0.28305	0.088	T	0.36792	-0.9733	10	0.56958	D	0.05	-7.2042	3.2184	0.06707	0.0864:0.1454:0.324:0.4443	.	226	Q6NUN0	ACSM5_HUMAN	S	226	ENSP00000327916:A226S	ENSP00000327916:A226S	A	+	1	0	ACSM5	20340133	0.000000	0.05858	0.757000	0.31301	0.229000	0.25112	-1.352000	0.02619	0.142000	0.18901	0.655000	0.94253	GCC	ACSM5	-	pfam_AMP-dep_Synth/Lig	ENSG00000183549		0.547	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM5	HGNC	protein_coding	OTTHUMT00000254413.1		0.00	72	0	G	NM_017888		20432632	+1			no_errors	ENST00000331849	ensembl	human	known	74_37	missense	16.22	31	6	SNP	0.195	T
ADAM30	11085	genome.wustl.edu	37	1	120438560	120438560	+	Silent	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:120438560G>T	ENST00000369400.1	-	1	558	c.400C>A	c.(400-402)Cga>Aga	p.R134R		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	134					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AATACACCTCGGAGACCCCCC	0.463																																																	0													82.0	87.0	85.0					1																	120438560		2203	4300	6503	SO:0001819	synonymous_variant	0			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.400C>A	1.37:g.120438560G>T			A8K8W8|Q5T3X6|Q9UKF1	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.R134	ENST00000369400.1	37	c.400	CCDS907.1	1																																																																																			ADAM30	-	pfam_Peptidase_M12B_N	ENSG00000134249		0.463	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM30	HGNC	protein_coding	OTTHUMT00000033678.1	-	0.00	62	0	G	NM_021794		120438560	-1	tier1	-	no_errors	ENST00000369400	ensembl	human	known	74_37	silent	22.64	41	12	SNP	0.882	T
ADHFE1	137872	genome.wustl.edu	37	8	67356721	67356721	+	Intron	SNP	A	A	G			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr8:67356721A>G	ENST00000396623.3	+	4	229				ADHFE1_ENST00000379385.4_Intron|ADHFE1_ENST00000496501.1_Intron|ADHFE1_ENST00000415254.1_Intron	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1						2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			ACCATGCTAAATGACAACAAT	0.378																																																	0													127.0	116.0	120.0					8																	67356721		692	1591	2283	SO:0001627	intron_variant	0			AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.198+66A>G	8.37:g.67356721A>G			B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	RNA	SNP	-	NULL	ENST00000396623.3	37	NULL	CCDS6190.2	8																																																																																			ADHFE1	-	-	ENSG00000147576		0.378	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADHFE1	HGNC	protein_coding	OTTHUMT00000316867.3	-	0.00	34	0	A	NM_144650		67356721	+1	tier1	-	no_errors	ENST00000518781	ensembl	human	known	74_37	rna	20.83	19	5	SNP	0.000	G
ADORA2A	135	genome.wustl.edu	37	22	24836564	24836564	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr22:24836564G>T	ENST00000337539.7	+	3	805	c.346G>T	c.(346-348)Gtg>Ttg	p.V116L	ADORA2A_ENST00000496497.1_3'UTR|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	116					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	CAATGGCTTGGTGACCGGCAC	0.577																																																	0													109.0	102.0	104.0					22																	24836564		2203	4300	6503	SO:0001583	missense	0			X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"""GPCR / Class A : Adenosine receptors"""	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.346G>T	22.37:g.24836564G>T	ENSP00000336630:p.Val116Leu		B2R7E0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2A_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt	p.V116L	ENST00000337539.7	37	c.346	CCDS13826.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.0|25.0	4.596130|4.596130	0.86953|0.86953	.|.	.|.	ENSG00000128271|ENSG00000258555	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596|ENST00000493440	T;T|.	0.17691|.	2.26;2.26|.	4.97|4.97	4.97|4.97	0.65823|0.65823	GPCR, rhodopsin-like superfamily (1);|.	0.133096|.	0.50627|.	D|.	0.000120|.	T|T	0.70168|0.70168	0.3193|0.3193	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	P|.	0.41188|.	0.741|.	P|.	0.48840|.	0.592|.	T|T	0.68055|0.68055	-0.5510|-0.5510	10|5	0.42905|.	T|.	0.14|.	-29.7608|-29.7608	17.5713|17.5713	0.87935|0.87935	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	116|.	P29274|.	AA2AR_HUMAN|.	L|C	116|48	ENSP00000414802:V116L;ENSP00000336630:V116L|.	ENSP00000336630:V116L|.	V|W	+|+	1|3	0|0	ADORA2A|KB-1896H10.1	23166564|23166564	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	9.143000|9.143000	0.94623|0.94623	2.454000|2.454000	0.82982|0.82982	0.563000|0.563000	0.77884|0.77884	GTG|TGG	ADORA2A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000128271		0.577	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA2A	HGNC	protein_coding	OTTHUMT00000319971.2		0.00	120	0	G	NM_000675		24836564	+1			no_errors	ENST00000337539	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T
AFF3	3899	genome.wustl.edu	37	2	100218011	100218013	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:100218011_100218013delGCT	ENST00000409236.2	-	12	1367_1369	c.1255_1257delAGC	c.(1255-1257)agcdel	p.S419del	AFF3_ENST00000317233.4_In_Frame_Del_p.S419del|AFF3_ENST00000409579.1_In_Frame_Del_p.S444del|AFF3_ENST00000356421.2_In_Frame_Del_p.S444del			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	419	Poly-Ser.				embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						tgctgctgccgctgctgctgctg	0.685																																																	0									,	365,3157		33,299,1429					,	-5.4	0.9			10	878,6286		79,720,2783	no	coding,coding	AFF3	NM_002285.2,NM_001025108.1	,	112,1019,4212	A1A1,A1R,RR		12.2557,10.3634,11.632	,	,		1243,9443				SO:0001651	inframe_deletion	0			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1255_1257delAGC	2.37:g.100218020_100218022delGCT	ENSP00000387207:p.Ser419del		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	In_Frame_Del	DEL	pfam_TF_AF4/FMR2	p.S444in_frame_del	ENST00000409236.2	37	c.1332_1330	CCDS42723.1	2																																																																																			AFF3	-	pfam_TF_AF4/FMR2	ENSG00000144218		0.685	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3		0.00	44	0	GCT	NM_002285		100218013	-1	tier1		no_errors	ENST00000356421	ensembl	human	known	74_37	in_frame_del	15.15	28	5	DEL	1.000:1.000:1.000	-
ANKH	56172	genome.wustl.edu	37	5	14769157	14769157	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:14769157C>G	ENST00000284268.6	-	2	570	c.240G>C	c.(238-240)aaG>aaC	p.K80N		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	80					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCCTGTCTCTCTTGCTGTTCA	0.572																																																	0													91.0	82.0	85.0					5																	14769157		2203	4300	6503	SO:0001583	missense	0			AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.240G>C	5.37:g.14769157C>G	ENSP00000284268:p.Lys80Asn		B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	pfam_ANKH	p.K80N	ENST00000284268.6	37	c.240	CCDS3885.1	5	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639654	0.67244	.	.	ENSG00000154122	ENST00000284268	D	0.95918	-3.85	5.5	3.48	0.39840	.	0.048787	0.85682	D	0.000000	D	0.94483	0.8224	L	0.54323	1.7	0.80722	D	1	P	0.42078	0.77	P	0.48598	0.583	D	0.93317	0.6689	10	0.48119	T	0.1	0.2564	10.2717	0.43487	0.0:0.7912:0.0:0.2088	.	80	Q9HCJ1	ANKH_HUMAN	N	80	ENSP00000284268:K80N	ENSP00000284268:K80N	K	-	3	2	ANKH	14822157	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	1.688000	0.37690	1.332000	0.45431	0.650000	0.86243	AAG	ANKH	-	pfam_ANKH	ENSG00000154122		0.572	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKH	HGNC	protein_coding	OTTHUMT00000207063.1	-	0.00	70	0	C	NM_054027		14769157	-1	tier1	-	no_errors	ENST00000284268	ensembl	human	known	74_37	missense	18.46	53	12	SNP	1.000	G
ANKRD18DP	348840	genome.wustl.edu	37	3	197807315	197807315	+	RNA	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr3:197807315G>T	ENST00000435620.2	-	0	227					NR_003291.1				ankyrin repeat domain 18D, pseudogene																		CGGGACCCGGGTACTCGTGGT	0.716																																																	0													9.0	13.0	12.0					3																	197807315		689	1587	2276			0			BC042518		3q29	2011-11-23			ENSG00000226435	ENSG00000226435			28016	pseudogene	pseudogene							Standard	NR_003291		Approved		uc003fyx.3		OTTHUMG00000150228		3.37:g.197807315G>T				RNA	SNP	-	NULL	ENST00000435620.2	37	NULL		3																																																																																			ANKRD18DP	-	-	ENSG00000226435		0.716	ANKRD18DP-001	KNOWN	basic	processed_transcript	ANKRD18DP	HGNC	pseudogene	OTTHUMT00000316910.2	-	0.00	40	0	G	NR_003291		197807315	-1	tier1	-	no_errors	ENST00000335478	ensembl	human	known	74_37	rna	11.63	38	5	SNP	0.000	T
ANKS3	124401	genome.wustl.edu	37	16	4749098	4749098	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:4749098A>T	ENST00000304283.4	-	12	1658	c.1364T>A	c.(1363-1365)aTc>aAc	p.I455N	ANKS3_ENST00000446014.2_Missense_Mutation_p.I326N|ANKS3_ENST00000585773.1_Missense_Mutation_p.I382N	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	455	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.									endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GGTCAGAAAGATGCGGAGGTC	0.622																																																	0													102.0	94.0	97.0					16																	4749098		2197	4300	6497	SO:0001583	missense	0			AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.1364T>A	16.37:g.4749098A>T	ENSP00000304586:p.Ile455Asn		B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt	p.I455N	ENST00000304283.4	37	c.1364	CCDS10520.1	16	.	.	.	.	.	.	.	.	.	.	A	31	5.097224	0.94197	.	.	ENSG00000168096	ENST00000304283;ENST00000446014	D;D	0.85339	-1.97;-1.97	5.65	5.65	0.86999	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.91064	0.7188	L	0.61387	1.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91909	0.5538	10	0.87932	D	0	-5.2719	15.3448	0.74327	1.0:0.0:0.0:0.0	.	455	Q6ZW76	ANKS3_HUMAN	N	455;326	ENSP00000304586:I455N;ENSP00000406796:I326N	ENSP00000304586:I455N	I	-	2	0	ANKS3	4689099	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.861000	0.92277	2.280000	0.76307	0.460000	0.39030	ATC	ANKS3	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000168096		0.622	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS3	HGNC	protein_coding	OTTHUMT00000251642.3	-	0.00	59	0	A	NM_133450		4749098	-1	tier1	-	no_errors	ENST00000304283	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T
ATG12	9140	genome.wustl.edu	37	5	115177406	115177406	+	5'UTR	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:115177406C>T	ENST00000509910.1	-	0	149				AP3S1_ENST00000316788.7_5'UTR|ATG12_ENST00000500945.2_5'Flank|ATG12_ENST00000274459.4_5'UTR|ATG12_ENST00000509598.1_5'Flank			O94817	ATG12_HUMAN	autophagy related 12						autophagic vacuole assembly (GO:0000045)|C-terminal protein lipidation (GO:0006501)|cellular response to nitrogen starvation (GO:0006995)|innate immune response (GO:0045087)|mitochondrion degradation (GO:0000422)|negative regulation of type I interferon production (GO:0032480)|nucleophagy (GO:0044804)	Atg12-Atg5-Atg16 complex (GO:0034274)|pre-autophagosomal structure membrane (GO:0034045)	Atg8 ligase activity (GO:0019776)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		TCGAAGCTGTCGCAGACCTCT	0.562																																																	0													41.0	48.0	45.0					5																	115177406		2199	4298	6497	SO:0001623	5_prime_UTR_variant	0			AB017507	CCDS4122.1, CCDS4122.2, CCDS64222.1	5q21-q22	2014-02-12	2012-06-06	2005-09-11	ENSG00000145782	ENSG00000145782			588	protein-coding gene	gene with protein product	"""APG12 autophagy 12-like"""	609608	"""Apg12 (autophagy 12, S. cerevisiae)-like"", ""APG12 autophagy 12-like (S. cerevisiae)"", ""ATG12 autophagy related 12 homolog (S. cerevisiae)"""	APG12L		9852036	Standard	NM_004707		Approved	APG12	uc003krh.3	O94817	OTTHUMG00000128889	ENST00000509910.1:c.-157G>A	5.37:g.115177406C>T			Q6PJV2	RNA	SNP	-	NULL	ENST00000509910.1	37	NULL	CCDS4122.2	5																																																																																			AP3S1	-	-	ENSG00000177879		0.562	ATG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3S1	HGNC	protein_coding	OTTHUMT00000250851.3	-	0.00	53	0	C	NM_004707		115177406	+1	tier1	-	no_errors	ENST00000514118	ensembl	human	known	74_37	rna	64.71	6	11	SNP	0.000	T
ARHGEF6	9459	genome.wustl.edu	37	X	135772773	135772773	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chrX:135772773A>T	ENST00000250617.6	-	10	2386	c.1181T>A	c.(1180-1182)aTg>aAg	p.M394K	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.M240K|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.M240K|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.M267K	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	394	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CCTTACCTCCATATGCCGTTC	0.478																																																	0													154.0	122.0	133.0					X																	135772773		2203	4300	6503	SO:0001583	missense	0			D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1181T>A	X.37:g.135772773A>T	ENSP00000250617:p.Met394Lys		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin	p.M394K	ENST00000250617.6	37	c.1181	CCDS14660.1	X	.	.	.	.	.	.	.	.	.	.	A	28.3	4.907144	0.92107	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.95	5.95	0.96441	Dbl homology (DH) domain (5);	0.037592	0.85682	D	0.000000	T	0.77274	0.4106	M	0.79805	2.47	0.80722	D	1	B;P	0.41710	0.286;0.76	B;P	0.55112	0.371;0.769	T	0.80061	-0.1540	10	0.87932	D	0	.	14.201	0.65705	1.0:0.0:0.0:0.0	.	267;394	B7Z3C7;Q15052	.;ARHG6_HUMAN	K	394;240;240;240;267	ENSP00000250617:M394K;ENSP00000359654:M240K;ENSP00000359656:M240K;ENSP00000439483:M267K	ENSP00000250617:M394K	M	-	2	0	ARHGEF6	135600439	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.904000	0.92590	1.999000	0.58509	0.486000	0.48141	ATG	ARHGEF6	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000129675		0.478	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF6	HGNC	protein_coding	OTTHUMT00000058511.2	-	0.00	65	0	A	NM_004840		135772773	-1	tier1	-	no_errors	ENST00000250617	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T
ASB8	140461	genome.wustl.edu	37	12	48543223	48543223	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:48543223G>T	ENST00000317697.3	-	4	962	c.793C>A	c.(793-795)Cag>Aag	p.Q265K	ASB8_ENST00000536549.1_Missense_Mutation_p.Q265K|ASB8_ENST00000537754.1_5'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	265	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						GGGAGATACTGGAGTCCCAGG	0.517																																																	0													63.0	62.0	63.0					12																	48543223		2203	4300	6503	SO:0001583	missense	0			AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"""Ankyrin repeat domain containing"""	17183	protein-coding gene	gene with protein product		615053	"""ankyrin repeat and SOCS box-containing 8"""			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.793C>A	12.37:g.48543223G>T	ENSP00000320893:p.Gln265Lys		A8K1P2|Q547Q2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.Q265K	ENST00000317697.3	37	c.793	CCDS8761.1	12	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956425	0.34565	.	.	ENSG00000177981	ENST00000317697;ENST00000536549;ENST00000446549	T;T	0.39997	1.05;1.05	4.93	4.93	0.64822	SOCS protein, C-terminal (3);	0.195407	0.47455	D	0.000222	T	0.26085	0.0636	N	0.17800	0.525	0.80722	D	1	B	0.16802	0.019	B	0.19391	0.025	T	0.05733	-1.0867	10	0.06757	T	0.87	-13.7922	13.9871	0.64341	0.0:0.1517:0.8483:0.0	.	265	Q9H765	ASB8_HUMAN	K	265;265;232	ENSP00000320893:Q265K;ENSP00000445622:Q265K	ENSP00000320893:Q265K	Q	-	1	0	ASB8	46829490	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.989000	0.76219	2.749000	0.94314	0.655000	0.94253	CAG	ASB8	-	pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C	ENSG00000177981		0.517	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB8	HGNC	protein_coding	OTTHUMT00000396497.1		0.00	56	0	G			48543223	-1			no_errors	ENST00000317697	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	T
ATP6V1H	51606	genome.wustl.edu	37	8	54730058	54730058	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr8:54730058G>C	ENST00000359530.2	-	5	602	c.339C>G	c.(337-339)gaC>gaG	p.D113E	ATP6V1H_ENST00000355221.3_Missense_Mutation_p.D113E|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.D73E|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.D113E	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	113					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			ATCTTGCATAGTCAAAGAAAA	0.383																																																	0													86.0	79.0	82.0					8																	54730058		2203	4300	6503	SO:0001583	missense	0			AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"""ATPases / V-type"""	18303	protein-coding gene	gene with protein product	"""vacuolar ATP synthase subunit H"""	608861	"""ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"""			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.339C>G	8.37:g.54730058G>C	ENSP00000352522:p.Asp113Glu		B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Missense_Mutation	SNP	pfam_ATPase_V1-cplx_hsu,pfam_ATPase_V1-cplx_hsu_C,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu	p.D113E	ENST00000359530.2	37	c.339	CCDS6153.1	8	.	.	.	.	.	.	.	.	.	.	G	10.72	1.428991	0.25726	.	.	ENSG00000047249	ENST00000355221;ENST00000520188;ENST00000359530;ENST00000396774;ENST00000520070	.	.	.	5.63	-1.15	0.09709	Armadillo-like helical (1);Armadillo-type fold (1);	0.042505	0.85682	N	0.000000	T	0.29223	0.0727	N	0.21240	0.645	0.54753	D	0.999985	B;B	0.24317	0.042;0.101	B;B	0.29663	0.035;0.105	T	0.27536	-1.0071	9	0.02654	T	1	-18.4016	8.5679	0.33552	0.3923:0.1046:0.503:0.0	.	113;113	Q9UI12-2;Q9UI12	.;VATH_HUMAN	E	113;73;113;113;93	.	ENSP00000347359:D113E	D	-	3	2	ATP6V1H	54892611	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	1.408000	0.34668	-0.144000	0.11314	0.655000	0.94253	GAC	ATP6V1H	-	pfam_ATPase_V1-cplx_hsu,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu	ENSG00000047249		0.383	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1H	HGNC	protein_coding	OTTHUMT00000377865.1	-	0.00	67	0	G	NM_015941		54730058	-1	tier1	-	no_errors	ENST00000359530	ensembl	human	known	74_37	missense	32.26	42	20	SNP	0.993	C
ATR	545	genome.wustl.edu	37	3	142266582	142266583	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr3:142266582_142266583insA	ENST00000350721.4	-	16	3462_3463	c.3341_3342insT	c.(3340-3342)atafs	p.I1114fs	ATR_ENST00000383101.3_Frame_Shift_Ins_p.I1050fs	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1114					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTTCAGGTGATATGATATCTCT	0.347								Other conserved DNA damage response genes																																									0																																										SO:0001589	frameshift_variant	0			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.3342dupT	3.37:g.142266583_142266583dupA	ENSP00000343741:p.Ile1114fs		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Frame_Shift_Ins	INS	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.S1115fs	ENST00000350721.4	37	c.3342_3341	CCDS3124.1	3																																																																																			ATR	-	superfamily_ARM-type_fold	ENSG00000175054		0.347	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2		0.00	104	0	-	NM_001184		142266583	-1	tier1		no_errors	ENST00000350721	ensembl	human	known	74_37	frame_shift_ins	27.72	73	28	INS	0.965:0.999	A
ATXN7	6314	genome.wustl.edu	37	3	63898361	63898363	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	GCA	GCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr3:63898361_63898363delGCA	ENST00000295900.6	+	3	637_639	c.87_89delGCA	c.(85-90)cggcag>cgg	p.Q39del	ATXN7_ENST00000538065.1_In_Frame_Del_p.Q39del|ATXN7_ENST00000487717.1_In_Frame_Del_p.Q39del|ATXN7_ENST00000398590.3_In_Frame_Del_p.Q39del	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	39	Gln-rich.|Poly-Gln.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		cggccgcccggcagcagcagcag	0.798																																																	0																																										SO:0001651	inframe_deletion	0			AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.87_89delGCA	3.37:g.63898370_63898372delGCA	ENSP00000295900:p.Gln39del		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	In_Frame_Del	DEL	pfam_SCA7_dom	p.Q33in_frame_del	ENST00000295900.6	37	c.87_89	CCDS43102.1	3																																																																																			ATXN7	-	NULL	ENSG00000163635		0.798	ATXN7-001	KNOWN	basic|CCDS	protein_coding	ATXN7	HGNC	protein_coding	OTTHUMT00000352070.1		0.00	20	0	GCA	NM_000333		63898363	+1	tier1		no_errors	ENST00000398590	ensembl	human	known	74_37	in_frame_del	40.00	3	2	DEL	1.000:1.000:1.000	-
BIRC6	57448	genome.wustl.edu	37	2	32819095	32819095	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:32819095C>T	ENST00000421745.2	+	67	13603	c.13469C>T	c.(13468-13470)gCa>gTa	p.A4490V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4490					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATAGTTTATGCAGCCACCACC	0.388																																					Pancreas(94;175 1509 16028 18060 45422)												0													74.0	73.0	73.0					2																	32819095		2203	4300	6503	SO:0001583	missense	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.13469C>T	2.37:g.32819095C>T	ENSP00000393596:p.Ala4490Val		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.A4490V	ENST00000421745.2	37	c.13469	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330902	0.60853	.	.	ENSG00000115760	ENST00000421745	T	0.74632	-0.86	5.51	5.51	0.81932	.	0.172283	0.51477	D	0.000085	T	0.68760	0.3036	L	0.40543	1.245	0.51482	D	0.999922	B	0.16603	0.018	B	0.14023	0.01	T	0.62153	-0.6914	10	0.30078	T	0.28	.	19.4294	0.94758	0.0:1.0:0.0:0.0	.	4490	Q9NR09	BIRC6_HUMAN	V	4490	ENSP00000393596:A4490V	ENSP00000393596:A4490V	A	+	2	0	BIRC6	32672599	1.000000	0.71417	0.833000	0.33012	0.991000	0.79684	4.753000	0.62183	2.579000	0.87056	0.650000	0.86243	GCA	BIRC6	-	NULL	ENSG00000115760		0.388	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3		0.00	59	0	C	NM_016252		32819095	+1			no_errors	ENST00000421745	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.937	T
BPIFA2	140683	genome.wustl.edu	37	20	31756970	31756970	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr20:31756970C>T	ENST00000253362.2	+	2	165	c.19C>T	c.(19-21)Ctt>Ttt	p.L7F	BPIFA2_ENST00000354932.5_Missense_Mutation_p.L7F			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	7						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)										GCTTTGGAAACTTGTTCTCCT	0.488																																																	0													164.0	146.0	152.0					20																	31756970		2203	4300	6503	SO:0001583	missense	0			AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"""BPI fold containing"""	16203	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 70"""	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.19C>T	20.37:g.31756970C>T	ENSP00000253362:p.Leu7Phe		Q9BQQ0	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	p.L7F	ENST00000253362.2	37	c.19	CCDS13214.1	20	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058059	0.36277	.	.	ENSG00000131050	ENST00000253362;ENST00000354932	T;T	0.51574	0.7;0.7	4.58	3.64	0.41730	.	0.143224	0.32578	N	0.005906	T	0.36991	0.0987	L	0.47016	1.485	0.25027	N	0.991294	B	0.31241	0.315	B	0.29598	0.104	T	0.22871	-1.0204	10	0.34782	T	0.22	1.9376	9.0438	0.36333	0.0:0.9014:0.0:0.0986	.	7	Q96DR5	BPIA2_HUMAN	F	7	ENSP00000253362:L7F;ENSP00000347012:L7F	ENSP00000253362:L7F	L	+	1	0	BPIFA2	31220631	0.569000	0.26643	0.978000	0.43139	0.936000	0.57629	0.221000	0.17680	1.546000	0.49388	-0.122000	0.15005	CTT	BPIFA2	-	NULL	ENSG00000131050		0.488	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BPIFA2	HGNC	protein_coding	OTTHUMT00000257117.1	-	0.00	49	0	C	NM_080574		31756970	+1	tier1	-	no_errors	ENST00000253362	ensembl	human	known	74_37	missense	20.83	38	10	SNP	0.986	T
BRD2	6046	genome.wustl.edu	37	6	32939543	32939543	+	5'UTR	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr6:32939543G>T	ENST00000374825.4	+	0	569				BRD2_ENST00000496118.2_Missense_Mutation_p.Q93H|BRD2-IT1_ENST00000415875.2_RNA|BRD2_ENST00000449085.2_5'Flank|BRD2_ENST00000395289.2_5'UTR|XXbac-BPG181M17.6_ENST00000580587.1_RNA|BRD2_ENST00000395287.1_5'Flank|BRD2_ENST00000443797.2_5'UTR|BRD2_ENST00000580234.1_3'UTR|BRD2_ENST00000374831.4_5'UTR	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2						chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						GCAGTCTCCAGTTGGGCTGTG	0.622																																																	0																																										SO:0001623	5_prime_UTR_variant	0			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.-1133G>T	6.37:g.32939543G>T			A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	NULL	p.Q93H	ENST00000374825.4	37	c.279	CCDS4762.1	6																																																																																			BRD2	-	NULL	ENSG00000204256		0.622	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD2	HGNC	protein_coding	OTTHUMT00000076503.2	-	0.00	113	0	G			32939543	+1	tier1	-	no_errors	ENST00000496118	ensembl	human	putative	74_37	missense	8.89	41	4	SNP	0.000	T
C12orf36	283422	genome.wustl.edu	37	12	13529163	13529163	+	Silent	SNP	C	C	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:13529163C>A	ENST00000318426.2	-	2	394	c.177G>T	c.(175-177)ctG>ctT	p.L59L	C12orf36_ENST00000531049.1_5'UTR|C12orf36_ENST00000539026.1_Silent_p.L59L|C12orf36_ENST00000527705.2_Silent_p.L59L|C12orf36_ENST00000532841.1_Silent_p.L59L					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		ctcacctccacagcctctgag	0.493																																																	0													91.0	92.0	92.0					12																	13529163		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091129		12p13.1	2012-08-14			ENSG00000180861	ENSG00000180861			26598	protein-coding gene	gene with protein product							Standard	NR_036555		Approved	FLJ33810	uc001rbs.2	Q495D7	OTTHUMG00000167562	ENST00000318426.2:c.177G>T	12.37:g.13529163C>A				Silent	SNP	NULL	p.L59	ENST00000318426.2	37	c.177		12																																																																																			C12orf36	-	NULL	ENSG00000180861		0.493	C12orf36-001	KNOWN	basic|appris_candidate_longest	protein_coding	C12orf36	HGNC	protein_coding	OTTHUMT00000395025.2	-	0.00	107	0	C	NM_182558		13529163	-1	tier1	-	no_errors	ENST00000318426	ensembl	human	known	74_37	silent	33.33	52	26	SNP	0.000	A
C15orf27	123591	genome.wustl.edu	37	15	76449047	76449047	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr15:76449047G>T	ENST00000388942.3	+	4	606	c.330G>T	c.(328-330)ttG>ttT	p.L110F		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	110					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GTGTAATATTGGTGGTGATTC	0.438																																																	0													131.0	131.0	131.0					15																	76449047		1947	4150	6097	SO:0001583	missense	0			AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.330G>T	15.37:g.76449047G>T	ENSP00000373594:p.Leu110Phe		Q8N993|Q96LL5	Missense_Mutation	SNP	NULL	p.L110F	ENST00000388942.3	37	c.330	CCDS10289.2	15	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758910	0.69763	.	.	ENSG00000169758	ENST00000388942	D	0.97752	-4.52	5.3	5.3	0.74995	.	0.000000	0.56097	D	0.000023	D	0.98362	0.9456	M	0.76328	2.33	0.48830	D	0.999717	D	0.89917	1.0	D	0.91635	0.999	D	0.98523	1.0624	10	0.54805	T	0.06	-19.238	12.9919	0.58625	0.0:0.0:0.8388:0.1612	.	110	Q2M3C6	CO027_HUMAN	F	110	ENSP00000373594:L110F	ENSP00000373594:L110F	L	+	3	2	C15orf27	74236102	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.015000	0.57152	2.490000	0.84030	0.655000	0.94253	TTG	C15orf27	-	NULL	ENSG00000169758		0.438	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C15orf27	HGNC	protein_coding	OTTHUMT00000286637.2	-	0.00	127	0	G	NM_152335		76449047	+1	tier1	-	no_errors	ENST00000388942	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T
NOL4L	140688	genome.wustl.edu	37	20	31172603	31172603	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr20:31172603C>T	ENST00000201961.2	-	0	27				RP11-410N8.1_ENST00000457213.1_RNA|RP11-410N8.4_ENST00000375670.1_5'Flank			Q96MY1	NOL4L_HUMAN								cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						TGCGCAAGCACCAGTCCCGGA	0.726																																																	0																																												0																														ENST00000201961.2:c.-193G>A	20.37:g.31172603C>T			Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	RNA	SNP	-	NULL	ENST00000201961.2	37	NULL		20																																																																																			C20orf112	-	-	ENSG00000197183		0.726	C20orf112-002	KNOWN	basic|appris_candidate_longest	protein_coding	C20orf112	HGNC	protein_coding	OTTHUMT00000078629.3	-	0.00	41	0	C			31172603	-1	tier1	-	no_errors	ENST00000485364	ensembl	human	known	74_37	rna	16.00	21	4	SNP	1.000	T
C7	730	genome.wustl.edu	37	5	40934566	40934566	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:40934566C>T	ENST00000313164.9	+	4	637	c.278C>T	c.(277-279)tCa>tTa	p.S93L		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	93	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				AGGTGCTTTTCAGGTAACTTG	0.398																																																	0													212.0	214.0	214.0					5																	40934566		1929	4152	6081	SO:0001583	missense	0			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.278C>T	5.37:g.40934566C>T	ENSP00000322061:p.Ser93Leu		Q6P3T5|Q92489	Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.S93L	ENST00000313164.9	37	c.278	CCDS47201.1	5	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620296	0.87460	.	.	ENSG00000112936	ENST00000313164;ENST00000440677;ENST00000515157	D	0.92099	-2.97	5.9	5.04	0.67666	.	0.131446	0.53938	D	0.000052	D	0.92724	0.7687	M	0.80422	2.495	0.80722	D	1	P	0.34757	0.467	B	0.39119	0.291	D	0.92365	0.5900	10	0.56958	D	0.05	-12.8247	14.166	0.65477	0.0:0.9269:0.0:0.0731	.	93	P10643	CO7_HUMAN	L	93	ENSP00000322061:S93L	ENSP00000322061:S93L	S	+	2	0	C7	40970323	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	5.933000	0.70130	1.503000	0.48686	0.650000	0.86243	TCA	C7	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_MAC_perforin	ENSG00000112936		0.398	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7	HGNC	protein_coding	OTTHUMT00000317680.1	-	0.00	124	0	C			40934566	+1	tier1	-	no_errors	ENST00000313164	ensembl	human	known	74_37	missense	14.58	82	14	SNP	1.000	T
CACNA1A	773	genome.wustl.edu	37	19	13470592	13470592	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr19:13470592G>T	ENST00000360228.5	-	6	805	c.806C>A	c.(805-807)cCg>cAg	p.P269Q	CACNA1A_ENST00000573710.2_Missense_Mutation_p.P269Q	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	269					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	ACATGGAGCCGGAGACTCACC	0.557																																																	0													32.0	31.0	31.0					19																	13470592		1907	4089	5996	SO:0001583	missense	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.806C>A	19.37:g.13470592G>T	ENSP00000353362:p.Pro269Gln		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.P269Q	ENST00000360228.5	37	c.806	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413079	0.42817	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.96554	-4.05	5.27	3.03	0.35002	Ion transport (1);	0.154543	0.44285	D	0.000471	D	0.96790	0.8952	M	0.72576	2.205	0.26164	N	0.979959	P;D	0.89917	0.666;1.0	B;D	0.87578	0.388;0.998	D	0.90603	0.4546	10	0.32370	T	0.25	.	5.8948	0.18933	0.0959:0.0:0.7152:0.1889	.	269;269	O00555;Q9NS88	CAC1A_HUMAN;.	Q	269	ENSP00000353362:P269Q	ENSP00000317661:P269Q	P	-	2	0	CACNA1A	13331592	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	4.722000	0.61958	1.229000	0.43630	-0.136000	0.14681	CCG	CACNA1A	-	pfam_Ion_trans_dom	ENSG00000141837		0.557	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2		0.00	81	0	G	NM_000068		13470592	-1			no_errors	ENST00000360228	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.971	T
CACNA1C	775	genome.wustl.edu	37	12	2659819	2659819	+	3'UTR	SNP	A	A	G			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:2659819A>G	ENST00000491104.1	+	0	478				CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399601.1_Intron			Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit						adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCTGAGTCAGACCAGTCCCAG	0.577																																																	0													26.0	24.0	25.0					12																	2659819		876	1991	2867	SO:0001624	3_prime_UTR_variant	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000491104.1:c.*475A>G	12.37:g.2659819A>G			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	RNA	SNP	-	NULL	ENST00000491104.1	37	NULL		12																																																																																			CACNA1C	-	-	ENSG00000151067		0.577	CACNA1C-014	KNOWN	basic	processed_transcript	CACNA1C	HGNC	protein_coding	OTTHUMT00000317032.1	-	0.00	101	0	A	NM_000719		2659819	+1	tier1	-	no_errors	ENST00000491104	ensembl	human	known	74_37	rna	5.71	66	4	SNP	0.003	G
CACNA1E	777	genome.wustl.edu	37	1	181765953	181765953	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:181765953A>G	ENST00000367573.2	+	47	6358	c.6358A>G	c.(6358-6360)Agg>Ggg	p.R2120G	CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2077G|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R2058G|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R2009G|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2071G|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2101G|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1684G	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2120					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCGTCAATCCAGGTCACCCAG	0.587																																																	0													23.0	26.0	25.0					1																	181765953		2035	4187	6222	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6358A>G	1.37:g.181765953A>G	ENSP00000356545:p.Arg2120Gly		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.R2120G	ENST00000367573.2	37	c.6358	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.168690	0.57584	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97430	-4.29;-4.28;-4.11;-4.28;-4.38;-4.11;-4.11	5.91	0.615	0.17608	.	0.285662	0.37219	N	0.002193	D	0.95784	0.8628	L	0.39245	1.2	0.45035	D	0.99805	P;D	0.56521	0.763;0.976	B;P	0.51615	0.21;0.675	D	0.94086	0.7348	10	0.56958	D	0.05	.	15.3831	0.74676	0.3819:0.6181:0.0:0.0	.	2058;2077	Q15878-2;Q15878-3	.;.	G	2077;2058;2071;2009;1684;2101;2120	ENSP00000356542:R2077G;ENSP00000434814:R2058G;ENSP00000350183:R2071G;ENSP00000351101:R2009G;ENSP00000356539:R1684G;ENSP00000353222:R2101G;ENSP00000356545:R2120G	ENSP00000350183:R2071G	R	+	1	2	CACNA1E	180032576	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	1.160000	0.31761	0.123000	0.18342	0.533000	0.62120	AGG	CACNA1E	-	NULL	ENSG00000198216		0.587	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0.00	42	0	A	NM_000721		181765953	+1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.999	G
CAMKMT	79823	genome.wustl.edu	37	2	44993623	44993623	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:44993623A>G	ENST00000378494.3	+	10	861	c.817A>G	c.(817-819)Aat>Gat	p.N273D		NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	273						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)			breast(2)|large_intestine(3)|lung(5)	10						CCAGTTTTGCAATCTAGCTGA	0.373																																																	0													99.0	95.0	96.0					2																	44993623		2203	4300	6503	SO:0001583	missense	0				CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"""CaM KMT"""	609559	"""chromosome 2 open reading frame 34"""	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.817A>G	2.37:g.44993623A>G	ENSP00000367755:p.Asn273Asp		Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.N273D	ENST00000378494.3	37	c.817	CCDS1820.1	2	.	.	.	.	.	.	.	.	.	.	A	9.061	0.994452	0.19043	.	.	ENSG00000143919	ENST00000378494	T	0.08546	3.08	5.47	5.47	0.80525	.	0.205107	0.51477	D	0.000085	T	0.05686	0.0149	N	0.02830	-0.485	0.80722	D	1	D	0.53312	0.959	P	0.49085	0.6	T	0.54050	-0.8351	10	0.10111	T	0.7	-11.718	15.5762	0.76387	1.0:0.0:0.0:0.0	.	273	Q7Z624	CMKMT_HUMAN	D	273	ENSP00000367755:N273D	ENSP00000367755:N273D	N	+	1	0	CAMKMT	44847127	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.466000	0.45084	2.081000	0.62600	0.528000	0.53228	AAT	CAMKMT	-	pfam_Nicotinamide_N-MeTfrase-like	ENSG00000143919		0.373	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKMT	HGNC	protein_coding	OTTHUMT00000250678.2	-	0.00	89	0	A	NM_024766		44993623	+1	tier1	-	no_errors	ENST00000378494	ensembl	human	known	74_37	missense	11.36	39	5	SNP	1.000	G
CAMTA1	23261	genome.wustl.edu	37	1	7798315	7798315	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:7798315G>T	ENST00000303635.7	+	16	4162	c.3955G>T	c.(3955-3957)Gga>Tga	p.G1319*	CAMTA1_ENST00000439411.2_Nonsense_Mutation_p.G1319*	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1319					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCAGCCTGTAGGAAAGTGGAA	0.527			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													48.0	52.0	51.0					1																	7798315		2203	4300	6503	SO:0001587	stop_gained	0			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.3955G>T	1.37:g.7798315G>T	ENSP00000306522:p.Gly1319*		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Nonsense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.G1319*	ENST00000303635.7	37	c.3955	CCDS30576.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	11.002881|11.002881	0.99501|0.99501	.|.	.|.	ENSG00000171735|ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646|ENST00000495233	.|.	.|.	.|.	4.73|4.73	4.73|4.73	0.59995|0.59995	.|.	0.514990|.	0.19919|.	N|.	0.103139|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.20046|.	T|.	0.44|.	-0.4691|-0.4691	5.6277|5.6277	0.17492|0.17492	0.131:0.1984:0.6706:0.0|0.131:0.1984:0.6706:0.0	.|.	.|.	.|.	.|.	X|Y	1319;1319;406;275|275	.|.	ENSP00000306522:G1319X|.	G|X	+|+	1|3	0|2	CAMTA1|CAMTA1	7720902|7720902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	2.770000|2.770000	0.47662|0.47662	2.320000|2.320000	0.78422|0.78422	0.655000|0.655000	0.94253|0.94253	GGA|TAG	CAMTA1	-	NULL	ENSG00000171735		0.527	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	-	0.00	22	0	G	NM_015215		7798315	+1	tier1	-	no_errors	ENST00000303635	ensembl	human	known	74_37	nonsense	25.00	9	3	SNP	1.000	T
CAMTA2	23125	genome.wustl.edu	37	17	4885088	4885088	+	Silent	SNP	T	T	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:4885088T>A	ENST00000348066.3	-	7	573	c.450A>T	c.(448-450)ccA>ccT	p.P150P	CAMTA2_ENST00000361571.5_Silent_p.P149P|CAMTA2_ENST00000571831.1_5'UTR|CAMTA2_ENST00000358183.4_Silent_p.P150P|CAMTA2_ENST00000414043.3_Silent_p.P173P|CAMTA2_ENST00000381311.5_Silent_p.P152P|CAMTA2_ENST00000572543.1_Silent_p.P155P	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	150					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CCTCCAGGGCTGGGACGTTCA	0.587																																																	0													42.0	37.0	39.0					17																	4885088		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.450A>T	17.37:g.4885088T>A			B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Silent	SNP	pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.P173	ENST00000348066.3	37	c.519	CCDS11063.1	17																																																																																			CAMTA2	-	NULL	ENSG00000108509		0.587	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA2	HGNC	protein_coding	OTTHUMT00000216876.1	-	0.00	40	0	T	NM_015099		4885088	-1	tier1	-	no_errors	ENST00000414043	ensembl	human	known	74_37	silent	10.81	33	4	SNP	0.990	A
CBX5	23468	genome.wustl.edu	37	12	54645841	54645841	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:54645841G>A	ENST00000439541.2	-	3	433	c.308C>T	c.(307-309)tCt>tTt	p.S103F	CBX5_ENST00000209875.4_Missense_Mutation_p.S103F|CBX5_ENST00000550411.1_Missense_Mutation_p.S103F	NM_001127321.1	NP_001120793.1	P45973	CBX5_HUMAN	chromobox homolog 5	103					blood coagulation (GO:0007596)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	chromocenter (GO:0010369)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear heterochromatin (GO:0005720)|nuclear pericentric heterochromatin (GO:0031618)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|protein binding, bridging (GO:0030674)|repressing transcription factor binding (GO:0070491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						CTTTTTTTTAGATTTGATGTC	0.323																																					Colon(153;588 2459 18334 48613)												0													146.0	152.0	150.0					12																	54645841		2203	4300	6503	SO:0001583	missense	0			U26311	CCDS8875.1	12q13.13	2010-07-06	2010-06-24		ENSG00000094916	ENSG00000094916			1555	protein-coding gene	gene with protein product	"""HP1 alpha homolog (Drosophila)"""	604478	"""chromobox homolog 5 (Drosophila HP1 alpha)"", ""chromobox homolog 5 (HP1 alpha homolog, Drosophila)"""			8663349	Standard	NM_012117		Approved	HP1Hs-alpha, HP1, HP1-ALPHA	uc001sfj.4	P45973		ENST00000439541.2:c.308C>T	12.37:g.54645841G>A	ENSP00000401009:p.Ser103Phe		B2R8T9	Missense_Mutation	SNP	pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr	p.S103F	ENST00000439541.2	37	c.308	CCDS8875.1	12	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410875	0.62399	.	.	ENSG00000094916	ENST00000209875;ENST00000439541;ENST00000550489;ENST00000550411	T;T;T	0.49139	0.79;0.79;0.79	5.22	5.22	0.72569	.	0.532629	0.19831	N	0.105100	T	0.40347	0.1113	N	0.24115	0.695	0.80722	D	1	B;B	0.31351	0.32;0.209	B;B	0.35182	0.136;0.197	T	0.38542	-0.9656	10	0.66056	D	0.02	-5.3919	16.6904	0.85320	0.0:0.0:1.0:0.0	.	103;103	G3V1X9;P45973	.;CBX5_HUMAN	F	103	ENSP00000209875:S103F;ENSP00000401009:S103F;ENSP00000449207:S103F	ENSP00000209875:S103F	S	-	2	0	CBX5	52932108	1.000000	0.71417	0.970000	0.41538	0.973000	0.67179	9.051000	0.93849	2.894000	0.99253	0.655000	0.94253	TCT	CBX5	-	NULL	ENSG00000094916		0.323	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CBX5	HGNC	protein_coding	OTTHUMT00000405468.1		0.00	31	0	G	NM_012117		54645841	-1			no_errors	ENST00000209875	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.997	A
CCDC141	285025	genome.wustl.edu	37	2	179702195	179702195	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:179702195C>T	ENST00000420890.2	-	23	3868	c.3751G>A	c.(3751-3753)Gtg>Atg	p.V1251M	CCDC141_ENST00000295723.5_Missense_Mutation_p.V676M|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1251										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCAGCCTGCACCCCATAGCTG	0.557																																																	0													59.0	60.0	60.0					2																	179702195		2203	4300	6503	SO:0001583	missense	0			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3751G>A	2.37:g.179702195C>T	ENSP00000395995:p.Val1251Met		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V1251M	ENST00000420890.2	37	c.3751		2	.	.	.	.	.	.	.	.	.	.	C	0.220	-1.029417	0.02045	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.42513	0.97;1.59;1.59	5.92	-2.36	0.06663	.	0.477572	0.21459	N	0.074188	T	0.06142	0.0159	N	0.00268	-1.735	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.33828	-0.9853	10	0.02654	T	1	-3.9008	0.5273	0.00622	0.2623:0.1522:0.283:0.3026	.	676;676	Q6ZP82;Q6ZP82-2	CC141_HUMAN;.	M	1251;695;676	ENSP00000395995:V1251M;ENSP00000344627:V695M;ENSP00000295723:V676M	ENSP00000295723:V676M	V	-	1	0	CCDC141	179410440	0.015000	0.18098	0.086000	0.20670	0.002000	0.02628	0.032000	0.13732	-0.180000	0.10637	-0.894000	0.02916	GTG	CCDC141	-	NULL	ENSG00000163492		0.557	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	CCDC141	HGNC	protein_coding		-	0.00	38	0	C	NM_173648		179702195	-1	tier1	-	no_errors	ENST00000420890	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.003	T
CD1A	909	genome.wustl.edu	37	1	158225961	158225961	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:158225961C>A	ENST00000289429.5	+	3	1026	c.493C>A	c.(493-495)Ctc>Atc	p.L165I		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	165					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CTGCAAAGTGCTCAATCAGAA	0.443																																																	0													138.0	116.0	123.0					1																	158225961		2203	4300	6503	SO:0001583	missense	0			M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.493C>A	1.37:g.158225961C>A	ENSP00000289429:p.Leu165Ile		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.L165I	ENST00000289429.5	37	c.493	CCDS1174.1	1	.	.	.	.	.	.	.	.	.	.	c	3.561	-0.089653	0.07053	.	.	ENSG00000158477	ENST00000289429	T	0.08008	3.14	4.15	-1.74	0.08056	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.073720	0.07423	N	0.894304	T	0.01222	0.0040	N	0.20685	0.6	0.09310	N	1	B	0.02656	0.0	B	0.18871	0.023	T	0.49173	-0.8967	10	0.24483	T	0.36	-8.4678	2.6142	0.04899	0.3573:0.2602:0.0:0.3825	.	165	P06126	CD1A_HUMAN	I	165	ENSP00000289429:L165I	ENSP00000289429:L165I	L	+	1	0	CD1A	156492585	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.674000	0.00842	-0.594000	0.05836	-2.528000	0.00182	CTC	CD1A	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000158477		0.443	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1A	HGNC	protein_coding	OTTHUMT00000046349.2	-	0.00	56	0	C	NM_001763		158225961	+1	tier1	-	no_errors	ENST00000289429	ensembl	human	known	74_37	missense	36.36	28	16	SNP	0.000	A
CDC14B	8555	genome.wustl.edu	37	9	99296415	99296415	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr9:99296415G>T	ENST00000375241.1	-	9	1191	c.740C>A	c.(739-741)aCt>aAt	p.T247N	CDC14B_ENST00000265659.2_Missense_Mutation_p.T247N|CDC14B_ENST00000375236.1_Missense_Mutation_p.T247N|CDC14B_ENST00000375240.3_Missense_Mutation_p.T247N|CDC14B_ENST00000463569.1_Missense_Mutation_p.T247N|CDC14B_ENST00000375242.3_Missense_Mutation_p.T210N	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	247	B.				activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				TTGAATATAAGTCTCAGGAGA	0.348																																																	0													47.0	46.0	46.0					9																	99296415		2203	4300	6503	SO:0001583	missense	0			AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1719	protein-coding gene	gene with protein product		603505	"""CDC14 (cell division cycle 14, S. cerevisiae) homolog B"", ""CDC14 cell division cycle 14 homolog B (S. cerevisiae)"""			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.740C>A	9.37:g.99296415G>T	ENSP00000364389:p.Thr247Asn		A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.T247N	ENST00000375241.1	37	c.740	CCDS6722.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.61|14.61	2.585900|2.585900	0.46110|0.46110	.|.	.|.	ENSG00000081377|ENSG00000081377	ENST00000452280|ENST00000265659;ENST00000375241;ENST00000375240;ENST00000375242;ENST00000463569;ENST00000375236	.|T;T;T;T;T;T	.|0.21543	.|2.0;2.0;2.0;2.0;2.0;2.0	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.049285	.|0.85682	.|D	.|0.000000	T|T	0.17408|0.17408	0.0418|0.0418	N|N	0.17312|0.17312	0.475|0.475	0.49582|0.49582	D|D	0.9998|0.9998	.|B;B;B	.|0.17038	.|0.0;0.02;0.0	.|B;B;B	.|0.23852	.|0.002;0.049;0.001	T|T	0.05321|0.05321	-1.0892|-1.0892	5|10	.|0.39692	.|T	.|0.17	-10.5834|-10.5834	19.2011|19.2011	0.93712|0.93712	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|247;247;210	.|O60729-2;O60729;A8MQ20	.|.;CC14B_HUMAN;.	E|N	224|247;247;247;210;247;247	.|ENSP00000265659:T247N;ENSP00000364389:T247N;ENSP00000364388:T247N;ENSP00000364390:T210N;ENSP00000420572:T247N;ENSP00000364384:T247N	.|ENSP00000265659:T247N	D|T	-|-	3|2	2|0	CDC14B|CDC14B	98336236|98336236	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.683000|0.683000	0.39861|0.39861	9.263000|9.263000	0.95617|0.95617	2.773000|2.773000	0.95371|0.95371	0.585000|0.585000	0.79938|0.79938	GAC|ACT	CDC14B	-	smart_Dual-sp_phosphatase_subgr_cat	ENSG00000081377		0.348	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC14B	HGNC	protein_coding	OTTHUMT00000053278.2	-	0.00	57	0	G	NM_033331		99296415	-1	tier1	-	no_errors	ENST00000375241	ensembl	human	known	74_37	missense	69.77	13	30	SNP	1.000	T
CDCA8	55143	genome.wustl.edu	37	1	38164611	38164611	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:38164611C>T	ENST00000373055.1	+	4	572	c.299C>T	c.(298-300)aCa>aTa	p.T100I	CDCA8_ENST00000327331.2_Missense_Mutation_p.T100I	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	100	Required for interaction with SENP3.|Required to form a minimal CPC core complex that localizes to the central spindle and midbody and properly executes the role of the CPC during cytokinesis.				chromosome organization (GO:0051276)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AACAAACTAACAGCAGAAGCT	0.418																																																	0													93.0	89.0	90.0					1																	38164611		2203	4300	6503	SO:0001583	missense	0			BG354581	CCDS424.1	1p34.3	2013-01-17			ENSG00000134690	ENSG00000134690			14629	protein-coding gene	gene with protein product	"""borealin"""	609977				12188893, 15260989	Standard	NM_001256875		Approved	FLJ12042, MESRGP, BOR, DasraB	uc001cbs.4	Q53HL2	OTTHUMG00000004320	ENST00000373055.1:c.299C>T	1.37:g.38164611C>T	ENSP00000362146:p.Thr100Ile		D3DPT4|Q53HN1|Q96AM3|Q9NVW5	Missense_Mutation	SNP	pfam_Cell_div_borealin,pfam_Borealin-like_N	p.T100I	ENST00000373055.1	37	c.299	CCDS424.1	1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071747	0.76301	.	.	ENSG00000134690	ENST00000373055;ENST00000327331	T;T	0.49432	0.78;0.78	5.26	5.26	0.73747	.	0.173853	0.52532	D	0.000067	T	0.65396	0.2687	M	0.64997	1.995	0.43512	D	0.995774	D	0.71674	0.998	D	0.76071	0.987	T	0.67868	-0.5559	10	0.72032	D	0.01	-17.1588	14.3501	0.66694	0.0:1.0:0.0:0.0	.	100	Q53HL2	BOREA_HUMAN	I	100	ENSP00000362146:T100I;ENSP00000316121:T100I	ENSP00000316121:T100I	T	+	2	0	CDCA8	37937198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.865000	0.56033	2.468000	0.83385	0.655000	0.94253	ACA	CDCA8	-	NULL	ENSG00000134690		0.418	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA8	HGNC	protein_coding	OTTHUMT00000012473.1	-	0.00	63	0	C	NM_018101		38164611	+1	tier1	-	no_errors	ENST00000327331	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T
CDH11	1009	genome.wustl.edu	37	16	65038654	65038654	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:65038654T>C	ENST00000268603.4	-	3	734	c.119A>G	c.(118-120)gAg>gGg	p.E40G	CDH11_ENST00000566827.1_Intron|CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000394156.3_Missense_Mutation_p.E40G	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	40					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTTGCCCTTCTCATGGTGCCC	0.647			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	0													40.0	34.0	36.0					16																	65038654		2202	4300	6502	SO:0001583	missense	0			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.119A>G	16.37:g.65038654T>C	ENSP00000268603:p.Glu40Gly		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E40G	ENST00000268603.4	37	c.119	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	T	17.53	3.412244	0.62511	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000536902	T;T	0.56941	0.43;0.43	5.74	5.74	0.90152	.	0.168138	0.52532	D	0.000063	T	0.47040	0.1424	L	0.29908	0.895	0.80722	D	1	P;B	0.47910	0.902;0.349	P;B	0.46543	0.52;0.05	T	0.34378	-0.9831	10	0.23302	T	0.38	.	15.211	0.73225	0.0:0.0:0.0:1.0	.	40;40	P55287-2;P55287	.;CAD11_HUMAN	G	40	ENSP00000268603:E40G;ENSP00000377711:E40G	ENSP00000268603:E40G	E	-	2	0	CDH11	63596155	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	4.372000	0.59530	2.198000	0.70561	0.482000	0.46254	GAG	CDH11	-	NULL	ENSG00000140937		0.647	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	-	0.00	71	0	T	NM_033664		65038654	-1	tier1	-	no_errors	ENST00000268603	ensembl	human	known	74_37	missense	15.62	27	5	SNP	1.000	C
CDH26	60437	genome.wustl.edu	37	20	58564206	58564206	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr20:58564206A>G	ENST00000244047.5	+	9	1582	c.1271A>G	c.(1270-1272)gAc>gGc	p.D424G	CDH26_ENST00000348616.4_Missense_Mutation_p.D424G			Q8IXH8	CAD26_HUMAN	cadherin 26	424	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			ATGGATCCAGACAGCCAGATA	0.532																																																	0													128.0	153.0	145.0					20																	58564206		2202	4300	6502	SO:0001583	missense	0			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1271A>G	20.37:g.58564206A>G	ENSP00000244047:p.Asp424Gly		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D424G	ENST00000244047.5	37	c.1271		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.51|17.51	3.408196|3.408196	0.62399|0.62399	.|.	.|.	ENSG00000124215|ENSG00000124215	ENST00000244047;ENST00000348616|ENST00000370991	T;T|.	0.74632|.	-0.86;-0.86|.	5.26|5.26	4.13|4.13	0.48395|0.48395	.|.	0.062743|.	0.64402|.	D|.	0.000013|.	D|D	0.87330|0.87330	0.6150|0.6150	H|H	0.98629|0.98629	4.285|4.285	0.41213|0.41213	D|D	0.986453|0.986453	D|.	0.71674|.	0.998|.	D|.	0.74348|.	0.983|.	D|D	0.88765|0.88765	0.3260|0.3260	10|5	0.87932|.	D|.	0|.	.|.	9.3606|9.3606	0.38192|0.38192	0.8403:0.0:0.0:0.1597|0.8403:0.0:0.0:0.1597	.|.	424|.	Q8IXH8-4|.	.|.	G|A	424|16	ENSP00000244047:D424G;ENSP00000339390:D424G|.	ENSP00000244047:D424G|.	D|T	+|+	2|1	0|0	CDH26|CDH26	57997601|57997601	0.998000|0.998000	0.40836|0.40836	0.019000|0.019000	0.16419|0.16419	0.012000|0.012000	0.07955|0.07955	5.451000|5.451000	0.66632|0.66632	0.890000|0.890000	0.36211|0.36211	0.533000|0.533000	0.62120|0.62120	GAC|ACA	CDH26	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000124215		0.532	CDH26-201	KNOWN	basic	protein_coding	CDH26	HGNC	protein_coding		-	0.00	110	0	A	NM_177980		58564206	+1	tier1	-	no_errors	ENST00000244047	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.837	G
CELF4	56853	genome.wustl.edu	37	18	34850767	34850767	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr18:34850767C>T	ENST00000591282.1	-	8	1062	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	CELF4_ENST00000420428.2_Missense_Mutation_p.E355K|CELF4_ENST00000412753.1_Missense_Mutation_p.E354K|CELF4_ENST00000601019.1_Missense_Mutation_p.E353K|CELF4_ENST00000603232.1_Missense_Mutation_p.E354K|CELF4_ENST00000334919.5_Missense_Mutation_p.E345K|CELF4_ENST00000591287.1_Missense_Mutation_p.E354K|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000361795.5_Missense_Mutation_p.E353K|CELF4_ENST00000588597.1_Missense_Mutation_p.E344K			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	355					alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						AACACAGCTTCCGCAGCAGGT	0.587																																																	0													92.0	76.0	82.0					18																	34850767		2203	4300	6503	SO:0001583	missense	0			AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.1063G>A	18.37:g.34850767C>T	ENSP00000464794:p.Glu355Lys		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E355K	ENST00000591282.1	37	c.1063	CCDS32818.1	18	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969286	0.92855	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919	T;T	0.74421	-0.78;-0.84	4.66	4.66	0.58398	.	0.119542	0.56097	D	0.000026	D	0.84215	0.5423	M	0.80982	2.52	0.58432	D	0.999999	P;P;D;D;P;P	0.61697	0.824;0.859;0.99;0.964;0.725;0.604	P;P;P;P;P;P	0.61592	0.767;0.524;0.79;0.891;0.687;0.489	T	0.82010	-0.0669	10	0.18710	T	0.47	-8.3471	17.7309	0.88377	0.0:1.0:0.0:0.0	.	353;344;80;345;354;355	Q9BZC1-3;B4DHA8;A0PK06;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;.;.;CELF4_HUMAN	K	355;354;353;345	ENSP00000406823:E354K;ENSP00000335631:E345K	ENSP00000335631:E345K	E	-	1	0	CELF4	33104765	1.000000	0.71417	0.969000	0.41365	0.956000	0.61745	7.320000	0.79064	2.409000	0.81822	0.557000	0.71058	GAA	CELF4	-	NULL	ENSG00000101489		0.587	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CELF4	HGNC	protein_coding	OTTHUMT00000440892.1	-	0.00	84	0	C	NM_020180		34850767	-1	tier1	-	no_errors	ENST00000420428	ensembl	human	known	74_37	missense	30.77	27	12	SNP	1.000	T
CHD1	1105	genome.wustl.edu	37	5	98204234	98204234	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:98204234C>T	ENST00000284049.3	-	30	4362	c.4213G>A	c.(4213-4215)Gaa>Aaa	p.E1405K	CHD1_ENST00000511067.1_5'UTR	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1405					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)	TCTTCAGATTCTTCAGAAATG	0.378																																																	0													124.0	125.0	125.0					5																	98204234		2203	4300	6503	SO:0001583	missense	0			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.4213G>A	5.37:g.98204234C>T	ENSP00000284049:p.Glu1405Lys		Q17RZ3	Missense_Mutation	SNP	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.E1405K	ENST00000284049.3	37	c.4213	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534201	0.64972	.	.	ENSG00000153922	ENST00000284049	D	0.90844	-2.74	5.32	5.32	0.75619	.	0.000000	0.34245	U	0.004127	D	0.91095	0.7197	M	0.63428	1.95	0.58432	D	0.999999	P	0.48089	0.905	P	0.47044	0.535	D	0.88794	0.3280	10	0.21540	T	0.41	.	19.3709	0.94484	0.0:1.0:0.0:0.0	.	1405	O14646	CHD1_HUMAN	K	1405	ENSP00000284049:E1405K	ENSP00000284049:E1405K	E	-	1	0	CHD1	98232134	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.419000	0.80179	2.671000	0.90904	0.655000	0.94253	GAA	CHD1	-	NULL	ENSG00000153922		0.378	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	-	0.00	87	0	C	NM_001270		98204234	-1	tier1	-	no_errors	ENST00000284049	ensembl	human	known	74_37	missense	23.68	28	9	SNP	1.000	T
CPT1B	1375	genome.wustl.edu	37	22	51016363	51016363	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr22:51016363C>T	ENST00000360719.2	-	0	119				CPT1B_ENST00000434492.2_De_novo_Start_OutOfFrame|CHKB_ENST00000463053.1_5'Flank|CPT1B_ENST00000405237.3_De_novo_Start_OutOfFrame|CPT1B_ENST00000440709.1_De_novo_Start_OutOfFrame|CPT1B_ENST00000395650.2_De_novo_Start_OutOfFrame|CHKB-CPT1B_ENST00000453634.1_3'UTR|CHKB-CPT1B_ENST00000452668.1_5'UTR|CPT1B_ENST00000312108.7_De_novo_Start_OutOfFrame|CPT1B_ENST00000457250.1_De_novo_Start_OutOfFrame	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)						carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TTGGTCGGCACCTAGGACGGG	0.756																																					Esophageal Squamous(170;988 1933 25577 30295 48163)												0													25.0	25.0	25.0					22																	51016363		2201	4297	6498			0			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.-19G>A	22.37:g.51016363C>T			B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	RNA	SNP	-	NULL	ENST00000360719.2	37	NULL	CCDS14098.1	22																																																																																			CHKB-CPT1B	-	-	ENSG00000254413		0.756	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CHKB-CPT1B	HGNC	protein_coding	OTTHUMT00000317264.5	-	0.00	43	0	C	NM_152246		51016363	-1	tier1	-	no_errors	ENST00000452668	ensembl	human	known	74_37	rna	17.24	24	5	SNP	1.000	T
CHUK	1147	genome.wustl.edu	37	10	101953779	101953779	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:101953779delT	ENST00000370397.7	-	18	2022	c.1936delA	c.(1936-1938)aggfs	p.R646fs	CHUK_ENST00000590930.1_5'UTR	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	646					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	TCTTTCTGCCTTTTTCCCTGC	0.373																																					Ovarian(159;52 1904 10536 35305 37148)												0													112.0	105.0	107.0					10																	101953779		2203	4300	6503	SO:0001589	frameshift_variant	0			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1936delA	10.37:g.101953779delT	ENSP00000359424:p.Arg646fs		O14666|Q13132|Q5W0I4|Q92467	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R646fs	ENST00000370397.7	37	c.1936	CCDS7488.1	10																																																																																			CHUK	-	NULL	ENSG00000213341		0.373	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHUK	HGNC	protein_coding	OTTHUMT00000049836.1		0.00	109	0	T	NM_001278		101953779	-1			no_errors	ENST00000370397	ensembl	human	known	74_37	frame_shift_del	9.46	67	7	DEL	1.000	0
CLDN8	9073	genome.wustl.edu	37	21	31587980	31587980	+	Silent	SNP	G	G	T	rs372970119		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr21:31587980G>T	ENST00000399899.1	-	1	411	c.264C>A	c.(262-264)tcC>tcA	p.S88S	CLDN8_ENST00000286809.1_Silent_p.S88S	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	88					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						AGGACATCACGGAAGCAGCAC	0.532																																																	0													111.0	90.0	97.0					21																	31587980		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ250711	CCDS13587.1	21q22.1	2008-07-31			ENSG00000156284	ENSG00000156284		"""Claudins"""	2050	protein-coding gene	gene with protein product		611231				9892664	Standard	NM_199328		Approved		uc002ynu.2	P56748	OTTHUMG00000081872	ENST00000399899.1:c.264C>A	21.37:g.31587980G>T			D3DSE3|Q53EX7	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin8,prints_Claudin14	p.S88	ENST00000399899.1	37	c.264	CCDS13587.1	21																																																																																			CLDN8	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin	ENSG00000156284		0.532	CLDN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN8	HGNC	protein_coding	OTTHUMT00000182260.1	-	0.00	103	0	G	NM_199328		31587980	-1	tier1	-	no_errors	ENST00000286809	ensembl	human	known	74_37	silent	7.41	50	4	SNP	0.000	T
CLPX	10845	genome.wustl.edu	37	15	65471357	65471357	+	Silent	SNP	T	T	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr15:65471357T>C	ENST00000300107.3	-	3	461	c.273A>G	c.(271-273)tcA>tcG	p.S91S		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	91					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TCCCAGAGCCTGATTTCTTAC	0.403																																																	0													125.0	114.0	118.0					15																	65471357		2202	4299	6501	SO:0001819	synonymous_variant	0			AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"""ATPases / AAA-type"""	2088	protein-coding gene	gene with protein product		615611	"""ClpX (caseinolytic protease X, E. coli) homolog"", ""ClpX caseinolytic protease X homolog (E. coli)"", ""ClpX caseinolytic peptidase X homolog (E. coli)"""			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.273A>G	15.37:g.65471357T>C			A1L428|A8K8F1|B9EGI8|Q9H4D9	Silent	SNP	pfam_ATPase_AAA-2,pfam_Clp_ATPase_C,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_Sigma_54_int,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_Clp_protease_ATP-bd_su_ClpX	p.S91	ENST00000300107.3	37	c.273	CCDS10202.1	15																																																																																			CLPX	-	NULL	ENSG00000166855		0.403	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPX	HGNC	protein_coding	OTTHUMT00000256828.2	-	0.00	97	0	T	NM_006660		65471357	-1	tier1	-	no_errors	ENST00000300107	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.994	C
CNR1	1268	genome.wustl.edu	37	6	88854404	88854404	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr6:88854404G>A	ENST00000537554.1	-	2	4152	c.590C>T	c.(589-591)aCg>aTg	p.T197M	CNR1_ENST00000369501.2_Missense_Mutation_p.T197M|CNR1_ENST00000369499.2_Missense_Mutation_p.T197M|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Missense_Mutation_p.T197M|CNR1_ENST00000535130.1_Missense_Mutation_p.T197M|CNR1_ENST00000468898.1_Missense_Mutation_p.T164M|CNR1_ENST00000549890.1_Missense_Mutation_p.T197M|CNR1_ENST00000549716.1_Missense_Mutation_p.T136M	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	197					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GAAGGAGGCCGTGACCCCACC	0.542																																																	0													43.0	43.0	43.0					6																	88854404		2202	4296	6498	SO:0001583	missense	0			AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.590C>T	6.37:g.88854404G>A	ENSP00000441046:p.Thr197Met		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn	p.T197M	ENST00000537554.1	37	c.590	CCDS5015.1	6	.	.	.	.	.	.	.	.	.	.	G	17.18	3.322985	0.60634	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.77	5.77	0.91146	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70613	0.3244	N	0.16790	0.44	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.75484	0.847;0.986	T	0.75519	-0.3289	10	0.62326	D	0.03	.	20.0015	0.97412	0.0:0.0:1.0:0.0	.	164;197	P21554-3;P21554	.;CNR1_HUMAN	M	197;197;197;197;197;164;197;136	ENSP00000358513:T197M;ENSP00000442689:T197M;ENSP00000441046:T197M;ENSP00000358511:T197M;ENSP00000446819:T197M;ENSP00000420188:T164M;ENSP00000412192:T197M;ENSP00000449549:T136M	ENSP00000358511:T197M	T	-	2	0	CNR1	88911123	1.000000	0.71417	0.963000	0.40424	0.772000	0.43724	8.004000	0.88535	2.732000	0.93576	0.563000	0.77884	ACG	CNR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000118432		0.542	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CNR1	HGNC	protein_coding	OTTHUMT00000354204.2	-	0.00	37	0	G			88854404	-1	tier1	-	no_errors	ENST00000369499	ensembl	human	known	74_37	missense	25.00	15	5	SNP	1.000	A
COL27A1	85301	genome.wustl.edu	37	9	116931688	116931688	+	Missense_Mutation	SNP	C	C	T	rs141872540		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr9:116931688C>T	ENST00000356083.3	+	3	2244	c.1853C>T	c.(1852-1854)aCg>aTg	p.T618M		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	618	Pro-rich.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCAGGATCTACGCCTTTCCCT	0.647																																																	0								C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	58.0	63.0	61.0		1853	5.0	1.0	9	dbSNP_134	61	0,8600		0,0,4300	yes	missense	COL27A1	NM_032888.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	618/1861	116931688	1,13005	2203	4300	6503	SO:0001583	missense	0			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1853C>T	9.37:g.116931688C>T	ENSP00000348385:p.Thr618Met		Q66K43|Q96JF7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.T618M	ENST00000356083.3	37	c.1853	CCDS6802.1	9	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948924	0.34377	2.27E-4	0.0	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.94376	-3.41;-3.41	5.01	5.01	0.66863	.	.	.	.	.	D	0.93776	0.8010	L	0.36672	1.1	0.42764	D	0.993816	D;D	0.89917	0.996;1.0	P;P	0.60541	0.737;0.876	D	0.93750	0.7058	9	0.48119	T	0.1	.	15.8632	0.79040	0.0:1.0:0.0:0.0	.	618;565	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	M	618;618;565;565	ENSP00000348385:T618M;ENSP00000391328:T565M	ENSP00000348385:T618M	T	+	2	0	COL27A1	115971509	0.999000	0.42202	0.957000	0.39632	0.803000	0.45373	4.582000	0.60957	2.606000	0.88127	0.655000	0.94253	ACG	COL27A1	-	NULL	ENSG00000196739		0.647	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1	-	0.00	80	0	C	NM_032888		116931688	+1	tier1	rs141872540	no_errors	ENST00000356083	ensembl	human	known	74_37	missense	21.62	29	8	SNP	0.991	T
CPNE1	8904	genome.wustl.edu	37	20	34215317	34215317	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr20:34215317T>C	ENST00000317619.3	-	16	1515	c.1121A>G	c.(1120-1122)gAt>gGt	p.D374G	CPNE1_ENST00000397442.1_Missense_Mutation_p.D374G|CPNE1_ENST00000397445.1_Missense_Mutation_p.D374G|CPNE1_ENST00000397443.1_Missense_Mutation_p.D374G|CPNE1_ENST00000352393.4_Missense_Mutation_p.D374G|CPNE1_ENST00000317677.5_Missense_Mutation_p.D379G|CPNE1_ENST00000397446.1_Missense_Mutation_p.D374G			Q99829	CPNE1_HUMAN	copine I	374	VWFA.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GCGGTAGGCATCCACAATGCC	0.562																																																	0													89.0	81.0	84.0					20																	34215317		2203	4300	6503	SO:0001583	missense	0			U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.1121A>G	20.37:g.34215317T>C	ENSP00000326126:p.Asp374Gly		E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom	p.D379G	ENST00000317619.3	37	c.1136	CCDS13260.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.2|21.2	4.110177|4.110177	0.77210|0.77210	.|.	.|.	ENSG00000214078|ENSG00000214078	ENST00000352393;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340;ENST00000430570|ENST00000415920	T;T;T;T;T;T;T;T;T|.	0.23552|.	1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9|.	4.88|4.88	4.88|4.88	0.63580|0.63580	von Willebrand factor, type A (1);Copine (1);|.	0.201570|.	0.41097|.	U|.	0.000954|.	T|T	0.63850|0.63850	0.2546|0.2546	M|M	0.65677|0.65677	2.01|2.01	0.44188|0.44188	D|D	0.997008|0.997008	B;B;B;B;B|.	0.19200|.	0.009;0.009;0.004;0.016;0.034|.	B;B;B;B;B|.	0.23852|.	0.049;0.02;0.02;0.016;0.034|.	T|T	0.63976|0.63976	-0.6515|-0.6515	10|5	0.54805|.	T|.	0.06|.	-22.2843|-22.2843	8.7226|8.7226	0.34449|0.34449	0.0:0.0889:0.0:0.9111|0.0:0.0889:0.0:0.9111	.|.	379;374;374;354;374|.	B0QZ18;A6PVH9;Q99829;Q59EI4;F2Z2V0|.	.;.;CPNE1_HUMAN;.;.|.	G|V	374;379;374;374;374;374;374;374;350|13	ENSP00000336945:D374G;ENSP00000317257:D379G;ENSP00000326126:D374G;ENSP00000380588:D374G;ENSP00000380587:D374G;ENSP00000380585:D374G;ENSP00000380584:D374G;ENSP00000415597:D374G;ENSP00000390626:D350G|.	ENSP00000326126:D374G|.	D|M	-|-	2|1	0|0	CPNE1|CPNE1	33678731|33678731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	6.126000|6.126000	0.71635|0.71635	2.042000|2.042000	0.60477|0.60477	0.460000|0.460000	0.39030|0.39030	GAT|ATG	CPNE1	-	pfam_Copine,smart_VWF_A	ENSG00000214078		0.562	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE1	HGNC	protein_coding	OTTHUMT00000078909.3	-	0.00	53	0	T	NM_152930		34215317	-1	tier1	-	no_errors	ENST00000317677	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	C
CPSF2	53981	genome.wustl.edu	37	14	92600367	92600367	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr14:92600367G>T	ENST00000298875.4	+	4	447	c.162G>T	c.(160-162)caG>caT	p.Q54H		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	54					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		ATGTTCACCAGATTGATGCAG	0.433																																					Ovarian(78;28 1788 18702 44111)												0													272.0	231.0	245.0					14																	92600367		2203	4300	6503	SO:0001583	missense	0			AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.162G>T	14.37:g.92600367G>T	ENSP00000298875:p.Gln54His		B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	pfam_Beta_Casp,pfam_RMMBL,pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.Q54H	ENST00000298875.4	37	c.162	CCDS9902.1	14	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380913	0.61845	.	.	ENSG00000165934	ENST00000298875;ENST00000553427	T;T	0.80123	-1.34;-1.34	5.88	4.99	0.66335	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	D	0.84352	0.5453	L	0.45228	1.405	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	T	0.82204	-0.0573	10	0.28530	T	0.3	.	13.0828	0.59123	0.1338:0.0:0.8662:0.0	.	54	Q9P2I0	CPSF2_HUMAN	H	54	ENSP00000298875:Q54H;ENSP00000451418:Q54H	ENSP00000298875:Q54H	Q	+	3	2	CPSF2	91670120	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	3.353000	0.52247	1.482000	0.48325	0.591000	0.81541	CAG	CPSF2	-	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	ENSG00000165934		0.433	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF2	HGNC	protein_coding	OTTHUMT00000412123.1		0.00	50	0	G			92600367	+1			no_errors	ENST00000298875	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	T
CPT1B	1375	genome.wustl.edu	37	22	51009414	51009414	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr22:51009414C>T	ENST00000360719.2	-	16	2071	c.1934G>A	c.(1933-1935)cGc>cAc	p.R645H	CPT1B_ENST00000434492.2_Missense_Mutation_p.R440H|CPT1B_ENST00000405237.3_Missense_Mutation_p.R645H|CPT1B_ENST00000440709.1_Missense_Mutation_p.R564H|CPT1B_ENST00000395650.2_Missense_Mutation_p.R645H|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000312108.7_Missense_Mutation_p.R645H|CPT1B_ENST00000457250.1_Missense_Mutation_p.R611H	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	645					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CATGGCCAGGCGGTACATATT	0.562																																					Esophageal Squamous(170;988 1933 25577 30295 48163)												0													169.0	168.0	168.0					22																	51009414		2203	4300	6503	SO:0001583	missense	0			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1934G>A	22.37:g.51009414C>T	ENSP00000353945:p.Arg645His		B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.R645H	ENST00000360719.2	37	c.1934	CCDS14098.1	22	.	.	.	.	.	.	.	.	.	.	C	34	5.332986	0.95758	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56	5.74	5.74	0.90152	.	0.050768	0.85682	D	0.000000	D	0.95903	0.8666	M	0.92923	3.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.99;0.992;0.998	D	0.96513	0.9380	10	0.87932	D	0	-27.3576	17.4218	0.87517	0.0:1.0:0.0:0.0	.	564;611;440;645	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	H	645;645;645;611;564;440;645	ENSP00000385486:R645H;ENSP00000312189:R645H;ENSP00000353945:R645H;ENSP00000409342:R611H;ENSP00000414713:R564H;ENSP00000410966:R440H;ENSP00000379011:R645H	ENSP00000312189:R645H	R	-	2	0	CPT1B	49356280	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.377000	0.79668	2.715000	0.92844	0.655000	0.94253	CGC	CPT1B	-	pfam_Carn_acyl_trans	ENSG00000205560		0.562	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT1B	HGNC	protein_coding	OTTHUMT00000317264.5	-	0.00	100	0	C	NM_152246		51009414	-1	tier1	-	no_errors	ENST00000312108	ensembl	human	known	74_37	missense	29.41	47	20	SNP	1.000	T
CSF1R	1436	genome.wustl.edu	37	5	149433732	149433734	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:149433732_149433734delCTG	ENST00000286301.3	-	22	3108_3110	c.2817_2819delCAG	c.(2815-2820)agcagt>agt	p.939_940SS>S		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	939					cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CTCCAGCTCActgctgctgctgc	0.596																																																	0																																										SO:0001651	inframe_deletion	0			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.2817_2819delCAG	5.37:g.149433741_149433743delCTG	ENSP00000286301:p.Ser940del		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	In_Frame_Del	DEL	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S940in_frame_del	ENST00000286301.3	37	c.2819_2817	CCDS4302.1	5																																																																																			CSF1R	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt	ENSG00000182578		0.596	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1R	HGNC	protein_coding	OTTHUMT00000252329.2		0.00	38	0	CTG	NM_005211		149433734	-1	tier1		no_errors	ENST00000286301	ensembl	human	known	74_37	in_frame_del	16.67	10	2	DEL	0.996:1.000:1.000	-
CSMD2	114784	genome.wustl.edu	37	1	34024948	34024948	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:34024948G>T	ENST00000373381.4	-	54	8682	c.8506C>A	c.(8506-8508)Caa>Aaa	p.Q2836K		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2813	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCAGGCATTGGGACCTAGCA	0.552																																																	0																																										SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.8506C>A	1.37:g.34024948G>T	ENSP00000362479:p.Gln2836Lys		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.Q2836K	ENST00000373381.4	37	c.8506		1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.624144	0.46840	.	.	ENSG00000121904	ENST00000373381	T	0.63255	-0.03	5.48	5.48	0.80851	.	0.353657	0.26715	U	0.022870	T	0.62295	0.2416	.	.	.	0.80722	D	1	P	0.45768	0.866	P	0.52066	0.689	T	0.53933	-0.8368	9	0.07030	T	0.85	.	18.7051	0.91635	0.0:0.0:1.0:0.0	.	2836	E7EUA6	.	K	2836	ENSP00000362479:Q2836K	ENSP00000362479:Q2836K	Q	-	1	0	CSMD2	33797535	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	4.561000	0.60809	2.724000	0.93272	0.563000	0.77884	CAA	CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000121904		0.552	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		-	0.00	107	0	G	NM_052896		34024948	-1	tier1	-	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	23.08	39	12	SNP	1.000	T
CYB5D1	124637	genome.wustl.edu	37	17	7762030	7762031	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:7762030_7762031insT	ENST00000332439.4	+	3	496_497	c.344_345insT	c.(343-348)gattttfs	p.DF115fs	CYB5D1_ENST00000570446.1_Intron|CYB5D1_ENST00000571846.1_Frame_Shift_Ins_p.DF115fs|LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000570555.1_5'UTR|LSMD1_ENST00000335155.5_5'Flank|LSMD1_ENST00000575208.1_5'Flank|LSMD1_ENST00000576384.1_5'Flank|LSMD1_ENST00000575771.1_5'Flank|LSMD1_ENST00000575071.1_5'Flank|LSMD1_ENST00000333775.5_5'Flank	NM_144607.4	NP_653208.2	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	115							heme binding (GO:0020037)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6		all_cancers(10;0.11)|Prostate(122;0.219)				TGGGCCAACGATTTTGGGAAGC	0.629											OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	0			AK057061	CCDS11123.1	17p13.1	2006-01-12	2006-01-12						26516	protein-coding gene	gene with protein product						12477932	Standard	NM_144607		Approved	FLJ32499	uc002gjb.4	Q6P9G0		ENST00000332439.4:c.348dupT	17.37:g.7762034_7762034dupT	ENSP00000331479:p.Asp115fs	644	D3DTQ8|Q96DM7	Frame_Shift_Ins	INS	pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd	p.G117fs	ENST00000332439.4	37	c.344_345	CCDS11123.1	17																																																																																			CYB5D1	-	NULL	ENSG00000182224		0.629	CYB5D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5D1	HGNC	protein_coding	OTTHUMT00000440841.1		0.00	93	0	-	NM_144607		7762031	+1	tier1		no_errors	ENST00000332439	ensembl	human	known	74_37	frame_shift_ins	10.34	26	3	INS	1.000:1.000	T
CYP2D6	1565	genome.wustl.edu	37	22	42522969	42522969	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr22:42522969G>A	ENST00000360608.5	-	8	1313	c.1199C>T	c.(1198-1200)tCa>tTa	p.S400L	CYP2D6_ENST00000389970.3_Missense_Mutation_p.S400L|NDUFA6-AS1_ENST00000451451.1_RNA|NDUFA6-AS1_ENST00000595777.1_RNA|NDUFA6-AS1_ENST00000434834.1_RNA|CYP2D6_ENST00000359033.4_Missense_Mutation_p.S349L|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|NDUFA6-AS1_ENST00000610250.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000536447.2_RNA|NDUFA6-AS1_ENST00000600968.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	400					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CAGCACCGATGACAGGTTGGT	0.612																																																	0													41.0	33.0	36.0					22																	42522969		2192	4292	6484	SO:0001583	missense	0			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.1199C>T	22.37:g.42522969G>A	ENSP00000353820:p.Ser400Leu		Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.S400L	ENST00000360608.5	37	c.1199	CCDS46721.1	22	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707019	0.89018	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.78246	-1.16;-1.16;5.12	5.08	4.02	0.46733	.	0.284309	0.30151	N	0.010291	D	0.87569	0.6210	M	0.88979	2.995	0.48975	D	0.999732	D;P;D	0.67145	0.996;0.931;0.996	P;P;P	0.58721	0.844;0.651;0.844	D	0.90465	0.4449	10	0.87932	D	0	.	15.1991	0.73120	0.0:0.1411:0.8589:0.0	.	400;349;400	C1ID54;Q6NXU8;Q6NWU0	.;.;.	L	400;400;346;349;349	ENSP00000353820:S400L;ENSP00000374620:S400L;ENSP00000351927:S349L	ENSP00000351927:S349L	S	-	2	0	CYP2D6	40852913	0.999000	0.42202	0.972000	0.41901	0.645000	0.38454	3.591000	0.53986	2.352000	0.79861	0.555000	0.69702	TCA	CYP2D6	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450_B	ENSG00000100197		0.612	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CYP2D6	HGNC	protein_coding	OTTHUMT00000320525.1	-	0.00	78	0	G			42522969	-1	tier1	-	no_errors	ENST00000360608	ensembl	human	known	74_37	missense	23.68	29	9	SNP	0.999	A
DAP3	7818	genome.wustl.edu	37	1	155707999	155708000	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:155707999_155708000insCT	ENST00000368336.5	+	13	1287_1288	c.1163_1164insCT	c.(1162-1167)ccctcgfs	p.PS388fs	DAP3_ENST00000421487.2_Frame_Shift_Ins_p.PS354fs|DAP3_ENST00000343043.3_Frame_Shift_Ins_p.PS388fs|DAP3_ENST00000471642.2_Frame_Shift_Ins_p.PS347fs|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000535183.1_Frame_Shift_Ins_p.PS347fs	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	388					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AACGCGAACCCCTCGCTGCTGG	0.505																																																	0																																										SO:0001589	frameshift_variant	0			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.1164_1165dupCT	1.37:g.155708000_155708001dupCT	ENSP00000357320:p.Pro388fs		B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Frame_Shift_Ins	INS	pfam_Ribosomal_S23/S29_mit,superfamily_P-loop_NTPase,prints_Ribosomal_S29_mit	p.L390fs	ENST00000368336.5	37	c.1163_1164	CCDS1120.1	1																																																																																			DAP3	-	pfam_Ribosomal_S23/S29_mit,superfamily_P-loop_NTPase	ENSG00000132676		0.505	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAP3	HGNC	protein_coding	OTTHUMT00000086042.1		0.00	74	0	-	NM_004632		155708000	+1	tier1		no_errors	ENST00000343043	ensembl	human	known	74_37	frame_shift_ins	32.00	34	16	INS	0.997:0.107	CT
DDI1	414301	genome.wustl.edu	37	11	103908556	103908556	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr11:103908556C>T	ENST00000302259.3	+	1	1249	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	336							aspartic-type endopeptidase activity (GO:0004190)	p.R336W(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AGATATGCTCCGGAGACATCA	0.443																																																	2	Substitution - Missense(2)	kidney(2)											131.0	124.0	126.0					11																	103908556		2202	4299	6501	SO:0001583	missense	0				CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.1006C>T	11.37:g.103908556C>T	ENSP00000302805:p.Arg336Trp		Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.R336W	ENST00000302259.3	37	c.1006	CCDS31660.1	11	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451721	0.43531	.	.	ENSG00000170967	ENST00000302259	T	0.51817	0.69	5.21	2.88	0.33553	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);Peptidase aspartic, catalytic (1);	0.101165	0.64402	D	0.000003	T	0.61986	0.2391	M	0.68317	2.08	0.43603	D	0.995963	D	0.76494	0.999	D	0.65573	0.936	T	0.63287	-0.6671	10	0.87932	D	0	-22.0794	10.8597	0.46819	0.6824:0.3176:0.0:0.0	.	336	Q8WTU0	DDI1_HUMAN	W	336	ENSP00000302805:R336W	ENSP00000302805:R336W	R	+	1	2	DDI1	103413766	1.000000	0.71417	0.989000	0.46669	0.138000	0.21146	4.376000	0.59556	0.522000	0.28464	-0.262000	0.10625	CGG	DDI1	-	pfam_Peptidase_aspartic_DDI1-type,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom	ENSG00000170967		0.443	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDI1	HGNC	protein_coding	OTTHUMT00000387326.1		0.00	53	0	C	NM_001001711		103908556	+1			no_errors	ENST00000302259	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T
DDX11	1663	genome.wustl.edu	37	12	31256769	31256769	+	Silent	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:31256769G>A	ENST00000407793.2	+	27	2966	c.2715G>A	c.(2713-2715)ctG>ctA	p.L905L	DDX11_ENST00000542838.1_Silent_p.*907*|DDX11_ENST00000228264.6_Silent_p.*881*|DDX11_ENST00000350437.4_Silent_p.*857*|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Silent_p.L905L	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	905					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GCCTCTTCCTGATGGGCAACC	0.582										Multiple Myeloma(12;0.14)																																							0													87.0	90.0	89.0					12																	31256769		2203	4299	6502	SO:0001819	synonymous_variant	0			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2715G>A	12.37:g.31256769G>A			Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.L905	ENST00000407793.2	37	c.2715	CCDS44856.1	12																																																																																			DDX11	-	NULL	ENSG00000013573		0.582	DDX11-202	KNOWN	basic|CCDS	protein_coding	DDX11	HGNC	protein_coding	OTTHUMT00000399728.1	-	0.00	84	0	G	NM_030653		31256769	+1	tier1	-	no_errors	ENST00000407793	ensembl	human	known	74_37	silent	5.63	67	4	SNP	0.259	A
DEK	7913	genome.wustl.edu	37	6	18264079	18264081	+	In_Frame_Del	DEL	TCC	TCC	-	rs377513079		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr6:18264079_18264081delTCC	ENST00000397239.3	-	2	585_587	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E	DEK_ENST00000244776.7_In_Frame_Del_p.46_47EE>E	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	46	Asp/Glu-rich (highly acidic).				chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CCCACCTTTTtcctcctcctcct	0.532			T	NUP214	AML																																			Dom	yes		6	6p23	7913	DEK oncogene (DNA binding)		L	0									,	77,1,4184		12,0,53,0,1,2065					,	-0.3	1.0			50	90,5,8159		17,0,56,0,5,4049	no	codingComplex,codingComplex	DEK	NM_003472.3,NM_001134709.1	,	29,0,109,0,6,6114	A1A1,A1A2,A1R,A2A2,A2R,RR		1.151,1.8301,1.3822	,	,		167,6,12343				SO:0001651	inframe_deletion	0			X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.138_140delGGA	6.37:g.18264088_18264090delTCC	ENSP00000380414:p.Glu47del		B2R6K6|B4DN37|Q5TGV4|Q5TGV5	In_Frame_Del	DEL	pfam_DEK_C,pfam_SAP_dom,smart_SAP_dom	p.E47in_frame_del	ENST00000397239.3	37	c.140_138	CCDS34344.1	6																																																																																			DEK	-	NULL	ENSG00000124795		0.532	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEK	HGNC	protein_coding	OTTHUMT00000039962.4		0.00	56	0	TCC			18264081	-1	tier1		no_errors	ENST00000397239	ensembl	human	known	74_37	in_frame_del	15.00	17	3	DEL	0.991:0.975:0.803	-
DGKI	9162	genome.wustl.edu	37	7	137269972	137269972	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr7:137269972C>A	ENST00000288490.5	-	14	1546	c.1546G>T	c.(1546-1548)Gaa>Taa	p.E516*	DGKI_ENST00000453654.2_Nonsense_Mutation_p.E216*|DGKI_ENST00000446122.1_Nonsense_Mutation_p.E516*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.E516*	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	516					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ACGCCATCTTCAAGTTCTTCT	0.473																																																	0													145.0	137.0	140.0					7																	137269972		2203	4300	6503	SO:0001587	stop_gained	0			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1546G>T	7.37:g.137269972C>A	ENSP00000288490:p.Glu516*		A4D1Q9|Q9NZ49	Nonsense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E516*	ENST00000288490.5	37	c.1546	CCDS5845.1	7	.	.	.	.	.	.	.	.	.	.	C	39	7.705946	0.98444	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	.	.	.	6.07	6.07	0.98685	.	0.208101	0.49916	D	0.000125	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.4308	0.94765	0.0:1.0:0.0:0.0	.	.	.	.	X	216;464;516;516;516	.	ENSP00000288490:E516X	E	-	1	0	DGKI	136920512	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.824000	0.75288	2.885000	0.99019	0.655000	0.94253	GAA	DGKI	-	NULL	ENSG00000157680		0.473	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3		0.00	134	0	C	NM_004717		137269972	-1			no_errors	ENST00000288490	ensembl	human	known	74_37	nonsense	5.00	76	4	SNP	1.000	A
DHX15	1665	genome.wustl.edu	37	4	24543614	24543614	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr4:24543614A>G	ENST00000336812.4	-	8	1523	c.1367T>C	c.(1366-1368)cTt>cCt	p.L456P	DHX15_ENST00000508032.1_5'Flank	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	456	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				TGTCACCAAAAGGGACTCAAC	0.418																																																	0													93.0	92.0	92.0					4																	24543614		2203	4300	6503	SO:0001583	missense	0			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1367T>C	4.37:g.24543614A>G	ENSP00000336741:p.Leu456Pro		Q9NQT7	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L456P	ENST00000336812.4	37	c.1367	CCDS33966.1	4	.	.	.	.	.	.	.	.	.	.	A	26.2	4.714851	0.89112	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	T	0.03358	3.96	6.16	6.16	0.99307	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	H	0.99881	4.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70142	-0.4953	10	0.87932	D	0	-15.132	16.8061	0.85666	1.0:0.0:0.0:0.0	.	456	O43143	DHX15_HUMAN	P	456;445	ENSP00000336741:L456P	ENSP00000336741:L456P	L	-	2	0	DHX15	24152712	1.000000	0.71417	0.983000	0.44433	0.974000	0.67602	8.962000	0.93254	2.367000	0.80283	0.528000	0.53228	CTT	DHX15	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000109606		0.418	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX15	HGNC	protein_coding	OTTHUMT00000360143.1		0.00	98	0	A	NM_001358		24543614	-1			no_errors	ENST00000336812	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.999	G
DKK1	22943	genome.wustl.edu	37	10	54074703	54074703	+	Silent	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:54074703C>T	ENST00000373970.3	+	2	403	c.264C>T	c.(262-264)gaC>gaT	p.D88D	PRKG1-AS1_ENST00000420193.1_RNA|DKK1_ENST00000467359.1_3'UTR	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	88	DKK-type Cys-1.				cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						GCGCAGAGGACGAGGAGTGCG	0.662											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													33.0	28.0	30.0					10																	54074703		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"""dickkopf (Xenopus laevis) homolog 1"", ""dickkopf 1 homolog (Xenopus laevis)"""				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.264C>T	10.37:g.54074703C>T		997	B2RC19	Silent	SNP	pfam_Dickkopf_N	p.D88	ENST00000373970.3	37	c.264	CCDS7246.1	10																																																																																			DKK1	-	pfam_Dickkopf_N	ENSG00000107984		0.662	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DKK1	HGNC	protein_coding	OTTHUMT00000048100.1	-	0.00	110	0	C			54074703	+1	tier1	-	no_errors	ENST00000373970	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.966	T
DLX4	1748	genome.wustl.edu	37	17	48050491	48050491	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:48050491C>A	ENST00000240306.3	+	2	633	c.338C>A	c.(337-339)cCc>cAc	p.P113H	DLX4_ENST00000411890.2_Missense_Mutation_p.P41H|DLX4_ENST00000503410.1_3'UTR	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	113				P -> A (in Ref. 1; AAC50942). {ECO:0000305}.	multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						CCTCAGGCCCCCGCCAAAAAG	0.677																																																	0													27.0	33.0	31.0					17																	48050491		2202	4298	6500	SO:0001583	missense	0				CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"""Homeoboxes / ANTP class : NKL subclass"""	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.338C>A	17.37:g.48050491C>A	ENSP00000240306:p.Pro113His		D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa,pfscan_Homeobox_dom	p.P113H	ENST00000240306.3	37	c.338	CCDS11555.1	17	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867310	0.51588	.	.	ENSG00000108813	ENST00000240306;ENST00000411890	D;D	0.95724	-3.76;-3.79	4.86	0.851	0.18989	Homeodomain-related (1);Homeodomain-like (1);	.	.	.	.	D	0.89677	0.6784	N	0.25380	0.74	0.09310	N	1	P;B	0.45827	0.867;0.41	B;B	0.41946	0.371;0.204	T	0.83142	-0.0108	9	0.87932	D	0	-8.7541	3.6067	0.08045	0.0:0.5089:0.1978:0.2933	.	41;113	Q92988-2;Q92988	.;DLX4_HUMAN	H	113;41	ENSP00000240306:P113H;ENSP00000410622:P41H	ENSP00000240306:P113H	P	+	2	0	DLX4	45405490	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.275000	0.18698	0.338000	0.23692	0.655000	0.94253	CCC	DLX4	-	superfamily_Homeodomain-like	ENSG00000108813		0.677	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX4	HGNC	protein_coding	OTTHUMT00000366214.1	-	0.00	136	0	C			48050491	+1	tier1	-	no_errors	ENST00000240306	ensembl	human	known	74_37	missense	36.71	50	29	SNP	0.000	A
DNAI2	64446	genome.wustl.edu	37	17	72278122	72278122	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:72278122A>G	ENST00000311014.6	+	2	233	c.166A>G	c.(166-168)Agc>Ggc	p.S56G	DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000582036.1_Missense_Mutation_p.S56G|DNAI2_ENST00000579490.1_Missense_Mutation_p.S113G|DNAI2_ENST00000446837.2_Missense_Mutation_p.S56G			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	56					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GTGCTCGATCAGCATGTCGGA	0.672									Kartagener syndrome																																								0													102.0	90.0	94.0					17																	72278122		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.166A>G	17.37:g.72278122A>G	ENSP00000308312:p.Ser56Gly		C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.S56G	ENST00000311014.6	37	c.166	CCDS11697.1	17	.	.	.	.	.	.	.	.	.	.	A	8.402	0.842195	0.16963	.	.	ENSG00000171595	ENST00000311014;ENST00000446837	T;T	0.15487	2.42;2.42	5.22	4.1	0.47936	.	0.529823	0.21475	N	0.073930	T	0.11324	0.0276	L	0.34521	1.04	0.80722	D	1	B	0.26318	0.146	B	0.26517	0.07	T	0.13522	-1.0506	10	0.37606	T	0.19	-52.0372	4.2215	0.10559	0.6286:0.1887:0.1828:0.0	.	56	Q9GZS0	DNAI2_HUMAN	G	56	ENSP00000308312:S56G;ENSP00000400252:S56G	ENSP00000308312:S56G	S	+	1	0	DNAI2	69789717	0.997000	0.39634	0.954000	0.39281	0.095000	0.18619	3.609000	0.54117	2.205000	0.71048	0.524000	0.50904	AGC	DNAI2	-	NULL	ENSG00000171595		0.672	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DNAI2	HGNC	protein_coding	OTTHUMT00000442537.1	-	0.00	69	0	A	NM_023036		72278122	+1	tier1	-	no_errors	ENST00000311014	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.902	G
DNAJC11	55735	genome.wustl.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	TC	-	rs374290353		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:6727803_6727804delTC	ENST00000377577.5	-	4	466_467	c.343_344delGA	c.(343-345)gaafs	p.E116fs	DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	116						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505																																																	0																																										SO:0001589	frameshift_variant	0			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.343_344delGA	1.37:g.6727813_6727814delTC	ENSP00000366800:p.Glu116fs		Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Frame_Shift_Del	DEL	pfam_DnaJ-like_C11_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.E115fs	ENST00000377577.5	37	c.344_343	CCDS87.1	1																																																																																			DNAJC11	-	NULL	ENSG00000007923		0.505	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC11	HGNC	protein_coding	OTTHUMT00000004216.3		0.00	45	0	TC	NM_018198		6727804	-1	tier1		no_errors	ENST00000377577	ensembl	human	known	74_37	frame_shift_del	8.00	23	2	DEL	1.000:1.000	-
DNAJC17	55192	genome.wustl.edu	37	15	41071496	41071496	+	Missense_Mutation	SNP	T	T	G	rs377051762	byFrequency	TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr15:41071496T>G	ENST00000220496.4	-	4	250	c.220A>C	c.(220-222)Aag>Cag	p.K74Q		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	74	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TTCCTGACCTTGTCATATGCA	0.552																																																	0													180.0	145.0	157.0					15																	41071496		2203	4300	6503	SO:0001583	missense	0			AK001496	CCDS10065.1	15q15.1	2014-02-12			ENSG00000104129	ENSG00000104129		"""Heat shock proteins / DNAJ (HSP40)"", ""RNA binding motif (RRM) containing"""	25556	protein-coding gene	gene with protein product						12477932	Standard	NM_018163		Approved	FLJ10634	uc001zms.2	Q9NVM6	OTTHUMG00000130065	ENST00000220496.4:c.220A>C	15.37:g.41071496T>G	ENSP00000220496:p.Lys74Gln			Missense_Mutation	SNP	pfam_DnaJ_domain,pfam_RRM_dom,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.K74Q	ENST00000220496.4	37	c.220	CCDS10065.1	15	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195573	0.58126	.	.	ENSG00000104129	ENST00000220496	D	0.81908	-1.55	5.52	5.52	0.82312	Heat shock protein DnaJ, N-terminal (3);	0.042471	0.85682	D	0.000000	T	0.69780	0.3149	N	0.10733	0.035	0.58432	D	0.999999	B	0.28801	0.223	B	0.34489	0.184	T	0.67405	-0.5679	10	0.22109	T	0.4	.	13.8737	0.63638	0.0:0.0:0.0:1.0	.	74	Q9NVM6	DJC17_HUMAN	Q	74	ENSP00000220496:K74Q	ENSP00000220496:K74Q	K	-	1	0	DNAJC17	38858788	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.964000	0.70379	2.104000	0.64026	0.528000	0.53228	AAG	DNAJC17	-	superfamily_DnaJ_domain,pfscan_DnaJ_domain	ENSG00000104129		0.552	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC17	HGNC	protein_coding	OTTHUMT00000252356.2	-	0.00	64	0	T	NM_018163		41071496	-1	tier1	-	no_errors	ENST00000220496	ensembl	human	known	74_37	missense	32.35	23	11	SNP	1.000	G
DNM1P46	196968	genome.wustl.edu	37	15	100340242	100340242	+	RNA	SNP	T	T	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr15:100340242T>C	ENST00000341853.1	-	0	684					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										GAGTGTCTATTTCTTCCCACG	0.632																																																	0													17.0	17.0	17.0					15																	100340242		1406	3201	4607			0			AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100340242T>C			Q3ZCN3	RNA	SNP	-	NULL	ENST00000341853.1	37	NULL		15																																																																																			DNM1P46	-	-	ENSG00000182397		0.632	DNM1P46-002	KNOWN	basic	processed_transcript	DNM1P46	HGNC	pseudogene	OTTHUMT00000313543.1		0.00	109	0	T	NR_003260		100340242	-1			no_errors	ENST00000341853	ensembl	human	known	74_37	rna	9.09	50	5	SNP	0.950	C
DSCAML1	57453	genome.wustl.edu	37	11	117329510	117329510	+	Silent	SNP	G	G	A	rs370976379		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr11:117329510G>A	ENST00000321322.6	-	19	3709	c.3708C>T	c.(3706-3708)ggC>ggT	p.G1236G	DSCAML1_ENST00000527706.1_Silent_p.G966G	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1176	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.G1236G(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGCTGCGTACGCCGTCCCCAG	0.647																																																	1	Substitution - coding silent(1)	large_intestine(1)						A		1,4401	2.1+/-5.4	0,1,2200	100.0	80.0	87.0		3708	-5.3	0.6	11		87	0,8592		0,0,4296	no	coding-synonymous	DSCAML1	NM_020693.2		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		1236/2114	117329510	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3708C>T	11.37:g.117329510G>A			Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G1236	ENST00000321322.6	37	c.3708	CCDS8384.1	11																																																																																			DSCAML1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000177103		0.647	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2		0.00	55	0	G	NM_020693		117329510	-1			no_errors	ENST00000321322	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.256	A
DSCR4	10281	genome.wustl.edu	37	21	39325305	39325305	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr21:39325305C>A	ENST00000398948.1	-	3	317	c.234G>T	c.(232-234)agG>agT	p.R78S				P56555	DSCR4_HUMAN	Down syndrome critical region gene 4	0										large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						CCACAGGATCCCTGCTGAGTG	0.547																																																	0																																										SO:0001583	missense	0			AB000099	CCDS33554.1	21q22.2	2012-04-19			ENSG00000184029	ENSG00000184029			3045	protein-coding gene	gene with protein product		604829				9455479	Standard	NM_005867		Approved	DCRB	uc002ywp.3	P56555	OTTHUMG00000086673	ENST00000398948.1:c.234G>T	21.37:g.39325305C>A	ENSP00000381921:p.Arg78Ser		Q4VB31	Missense_Mutation	SNP	NULL	p.R78S	ENST00000398948.1	37	c.234		21	.	.	.	.	.	.	.	.	.	.	C	3.115	-0.181895	0.06340	.	.	ENSG00000184029	ENST00000398948	.	.	.	2.8	0.842	0.18927	.	.	.	.	.	T	0.38957	0.1060	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36065	-0.9763	5	0.87932	D	0	.	5.6342	0.17528	0.1907:0.6855:0.0:0.1238	.	.	.	.	S	78	.	ENSP00000381921:R78S	R	-	3	2	DSCR4	38247175	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.066000	0.14489	-0.059000	0.13154	-0.813000	0.03139	AGG	DSCR4	-	NULL	ENSG00000184029		0.547	DSCR4-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	DSCR4	HGNC	protein_coding	OTTHUMT00000194835.1	-	0.00	60	0	C	NM_005867		39325305	-1	tier1	-	no_errors	ENST00000398948	ensembl	human	putative	74_37	missense	63.33	11	19	SNP	0.000	A
EEF2K	29904	genome.wustl.edu	37	16	22262558	22262558	+	Missense_Mutation	SNP	G	G	T	rs191986675	byFrequency	TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:22262558G>T	ENST00000263026.5	+	6	1007	c.533G>T	c.(532-534)cGg>cTg	p.R178L		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	178	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CCCGTAGACCGGGATGTGTAC	0.602																																					NSCLC(195;1411 2157 20319 27471 51856)												0													105.0	93.0	97.0					16																	22262558		2197	4300	6497	SO:0001583	missense	0			U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.533G>T	16.37:g.22262558G>T	ENSP00000263026:p.Arg178Leu		Q8N588	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase	p.R178L	ENST00000263026.5	37	c.533	CCDS10604.1	16	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740596	0.89573	.	.	ENSG00000103319	ENST00000263026	T	0.14893	2.47	5.43	5.43	0.79202	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.41766	0.1173	M	0.62016	1.91	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.10382	-1.0632	10	0.49607	T	0.09	-20.9296	19.2541	0.93938	0.0:0.0:1.0:0.0	.	178	O00418	EF2K_HUMAN	L	178	ENSP00000263026:R178L	ENSP00000263026:R178L	R	+	2	0	EEF2K	22170059	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	9.605000	0.98321	2.565000	0.86533	0.462000	0.41574	CGG	EEF2K	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase	ENSG00000103319		0.602	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2K	HGNC	protein_coding	OTTHUMT00000211580.2		0.00	77	0	G	NM_013302		22262558	+1			no_errors	ENST00000263026	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	T
EIF2AK1	27102	genome.wustl.edu	37	7	6066405	6066406	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr7:6066405_6066406insAT	ENST00000199389.6	-	14	1863_1864	c.1717_1718insAT	c.(1717-1719)tctfs	p.S573fs	EIF2AK1_ENST00000536084.1_Frame_Shift_Ins_p.S449fs	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	573	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CTGAATGGCAGATGGTCTCTGC	0.45																																																	0																																										SO:0001589	frameshift_variant	0			BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.1716_1717dupAT	7.37:g.6066406_6066407dupAT	ENSP00000199389:p.Ser573fs		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Frame_Shift_Ins	INS	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.S573fs	ENST00000199389.6	37	c.1718_1717	CCDS5345.1	7																																																																																			EIF2AK1	-	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	ENSG00000086232		0.450	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK1	HGNC	protein_coding	OTTHUMT00000207373.2		0.00	63	0	-	NM_014413		6066406	-1	tier1		no_errors	ENST00000199389	ensembl	human	known	74_37	frame_shift_ins	39.66	35	23	INS	1.000:0.998	AT
ELMO2	63916	genome.wustl.edu	37	20	45014797	45014797	+	Missense_Mutation	SNP	T	T	C	rs113022678		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr20:45014797T>C	ENST00000290246.6	-	9	837	c.643A>G	c.(643-645)Atc>Gtc	p.I215V	ELMO2_ENST00000352077.2_Missense_Mutation_p.I213V|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000396391.1_Missense_Mutation_p.I215V|ELMO2_ENST00000445496.2_Missense_Mutation_p.I32V|ELMO2_ENST00000372176.1_Missense_Mutation_p.I127V|ELMO2_ENST00000439931.2_Missense_Mutation_p.I215V	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	215					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				CCCACGGTGATTTCCTCGGCT	0.517																																																	0													134.0	123.0	127.0					20																	45014797		2203	4300	6503	SO:0001583	missense	0			AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.643A>G	20.37:g.45014797T>C	ENSP00000290246:p.Ile215Val		E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.I215V	ENST00000290246.6	37	c.643	CCDS13398.1	20	.	.	.	.	.	.	.	.	.	.	T	9.556	1.117272	0.20795	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000352077;ENST00000425546;ENST00000450812	T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;1.57;0.75;1.54;0.75	4.85	3.73	0.42828	Armadillo-like helical (1);Armadillo-type fold (1);	0.097447	0.64402	N	0.000001	T	0.28267	0.0698	N	0.20574	0.59	0.80722	D	1	B;B;B	0.16603	0.018;0.012;0.003	B;B;B	0.23018	0.043;0.023;0.016	T	0.05599	-1.0875	10	0.07482	T	0.82	-23.5665	9.9481	0.41623	0.0:0.081:0.0:0.919	.	215;215;215	B4DRL5;E9PBG2;Q96JJ3	.;.;ELMO2_HUMAN	V	215;127;215;215;32;213;3;215	ENSP00000290246:I215V;ENSP00000361249:I127V;ENSP00000379673:I215V;ENSP00000396519:I215V;ENSP00000409920:I32V;ENSP00000326172:I213V;ENSP00000388962:I3V;ENSP00000416181:I215V	ENSP00000290246:I215V	I	-	1	0	ELMO2	44448204	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	5.788000	0.69020	0.851000	0.35264	0.482000	0.46254	ATC	ELMO2	-	pfam_DUF3361,superfamily_ARM-type_fold	ENSG00000062598		0.517	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELMO2	HGNC	protein_coding	OTTHUMT00000080466.1	-	0.00	48	0	T	NM_022086		45014797	-1	tier1	rs113022678	no_errors	ENST00000439931	ensembl	human	known	74_37	missense	37.93	18	11	SNP	1.000	C
ENPP5	59084	genome.wustl.edu	37	6	46135853	46135853	+	Silent	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr6:46135853G>T	ENST00000371383.2	-	3	407	c.147C>A	c.(145-147)ccC>ccA	p.P49P	ENPP5_ENST00000230565.3_Silent_p.P49P|ENPP5_ENST00000492313.1_5'Flank					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						AATGAAAATGGGGCGTTGGAA	0.363																																																	0													41.0	42.0	42.0					6																	46135853		2203	4300	6503	SO:0001819	synonymous_variant	0			AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.147C>A	6.37:g.46135853G>T				Silent	SNP	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.P49	ENST00000371383.2	37	c.147	CCDS4915.1	6																																																																																			ENPP5	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000112796		0.363	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP5	HGNC	protein_coding	OTTHUMT00000040779.2	-	0.00	142	0	G			46135853	-1	tier1	-	no_errors	ENST00000230565	ensembl	human	known	74_37	silent	5.97	62	4	SNP	0.994	T
RP11-51O6.1	0	genome.wustl.edu	37	16	61089511	61089511	+	RNA	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:61089511C>T	ENST00000591758.1	-	0	357																											TATAGTATTTCAGGACAGCCA	0.453																																																	0																																												0																															16.37:g.61089511C>T				RNA	SNP	-	NULL	ENST00000591758.1	37	NULL		16																																																																																			RP11-51O6.1	-	-	ENSG00000224631		0.453	RP11-51O6.1-002	KNOWN	basic	processed_transcript	ENSG00000224631	Clone_based_vega_gene	pseudogene	OTTHUMT00000460612.1	-	0.00	41	0	C			61089511	-1	tier1	-	no_errors	ENST00000591758	ensembl	human	known	74_37	rna	39.39	20	13	SNP	0.995	T
CTC-490G23.2	0	genome.wustl.edu	37	19	43835579	43835579	+	lincRNA	SNP	T	T	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr19:43835579T>C	ENST00000595748.1	-	0	3																											TGCCTGCTTCTCTTCTGTGGA	0.612																																																	0																																												0																															19.37:g.43835579T>C				RNA	SNP	-	NULL	ENST00000595748.1	37	NULL		19																																																																																			CTC-490G23.2	-	-	ENSG00000231412		0.612	CTC-490G23.2-001	KNOWN	basic	lincRNA	ENSG00000231412	Clone_based_vega_gene	lincRNA	OTTHUMT00000463917.1	-	0.00	31	0	T			43835579	-1	tier1	-	no_errors	ENST00000595748	ensembl	human	known	74_37	rna	17.39	19	4	SNP	0.000	C
CTD-2090I13.1	0	genome.wustl.edu	37	1	227618722	227618722	+	lincRNA	DEL	A	A	-			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:227618722delA	ENST00000445817.1	+	0	1957																											TTTATATACCAAAAAAAAAAA	0.433																																																	0																																												0																															1.37:g.227618722delA				RNA	DEL	-	NULL	ENST00000445817.1	37	NULL		1																																																																																			CTD-2090I13.1	-	-	ENSG00000234277		0.433	CTD-2090I13.1-001	KNOWN	basic	lincRNA	ENSG00000234277	Clone_based_vega_gene	lincRNA	OTTHUMT00000091688.1		0.00	18	0	A			227618722	+1	tier1		no_errors	ENST00000445817	ensembl	human	known	74_37	rna	17.39	19	4	DEL	0.163	-
TPTE2P6	374491	genome.wustl.edu	37	13	25155856	25155856	+	RNA	SNP	C	C	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr13:25155856C>A	ENST00000453498.1	+	0	469																											TTTTTAACTGCAGAGGTATGA	0.363																																																	0																																												0																															13.37:g.25155856C>A				RNA	SNP	-	NULL	ENST00000453498.1	37	NULL		13																																																																																			RP11-556N21.1	-	-	ENSG00000243008		0.363	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000243008	Clone_based_vega_gene	processed_transcript	OTTHUMT00000044193.1	-	0.00	195	0	C			25155856	+1	tier1	-	no_errors	ENST00000453498	ensembl	human	known	74_37	rna	11.70	82	11	SNP	0.596	A
WHSC1L1	54904	genome.wustl.edu	37	8	38134040	38134040	+	Intron	SNP	T	T	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr8:38134040T>C	ENST00000317025.8	-	23	4385				WHSC1L1_ENST00000433384.2_Intron|WHSC1L1_ENST00000527502.1_Intron|RP11-513D5.5_ENST00000529325.1_RNA	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1						histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GAAAGGATCATAGTTTCAAAC	0.383			T	NUP98	AML																																			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0													76.0	68.0	71.0					8																	38134040		1947	4150	6097	SO:0001627	intron_variant	0			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.3868-22A>G	8.37:g.38134040T>C			B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	RNA	SNP	-	NULL	ENST00000317025.8	37	NULL	CCDS43729.1	8																																																																																			RP11-513D5.5	-	-	ENSG00000255487		0.383	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000255487	Clone_based_vega_gene	protein_coding	OTTHUMT00000381924.3	-	0.00	34	0	T	NM_023034		38134040	+1	tier1	-	no_errors	ENST00000529325	ensembl	human	known	74_37	rna	31.82	30	14	SNP	0.000	C
ERCC6	2074	genome.wustl.edu	37	10	50678883	50678883	+	Silent	SNP	T	T	C	rs563142074		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:50678883T>C	ENST00000355832.5	-	18	3201	c.3123A>G	c.(3121-3123)caA>caG	p.Q1041Q	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000465653.1_5'Flank|ERCC6_ENST00000542458.1_Silent_p.Q411Q	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1041					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CAAAGGCTGGTTGAATCCTTC	0.403								Direct reversal of damage;Nucleotide excision repair (NER)					T|||	1	0.000199681	0.0008	0.0	5008	,	,		20544	0.0		0.0	False		,,,				2504	0.0																0													133.0	133.0	133.0					10																	50678883		2203	4300	6503	SO:0001819	synonymous_variant	0			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3123A>G	10.37:g.50678883T>C			D3DX94|Q5W0L9	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q1041	ENST00000355832.5	37	c.3123	CCDS7229.1	10																																																																																			ERCC6	-	NULL	ENSG00000225830		0.403	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	-	0.00	105	0	T	NM_000124		50678883	-1	tier1	-	no_errors	ENST00000355832	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.000	C
ESPNP	284729	genome.wustl.edu	37	1	17026043	17026044	+	RNA	INS	-	-	GCA	rs678439|rs60794777|rs532832462	byFrequency	TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:17026043_17026044insGCA	ENST00000492551.1	-	0	1404_1405					NR_026567.1				espin pseudogene																		cggcggcggcggcagcTGCTGC	0.782																																																	0																																												0			AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17026044_17026046dupGCA				RNA	INS	-	NULL	ENST00000492551.1	37	NULL		1																																																																																			ESPNP	-	-	ENSG00000268869		0.782	ESPNP-002	KNOWN	basic	processed_transcript	ESPNP	HGNC	pseudogene	OTTHUMT00000326311.1		0.00	17	0	0			17026044	-1			no_errors	ENST00000492551	ensembl	human	known	74_37	rna	22.22	7	2	INS	0.970:0.965	GCA
EXOC6B	23233	genome.wustl.edu	37	2	72945384	72945384	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:72945384G>T	ENST00000272427.6	-	6	647	c.517C>A	c.(517-519)Caa>Aaa	p.Q173K	EXOC6B_ENST00000410104.1_Missense_Mutation_p.Q173K	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	173					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TGGCTTACTTGAGGCAGGTAG	0.418																																																	0													130.0	127.0	128.0					2																	72945384		1945	4140	6085	SO:0001583	missense	0			AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.517C>A	2.37:g.72945384G>T	ENSP00000272427:p.Gln173Lys		B8ZZY3	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.Q173K	ENST00000272427.6	37	c.517	CCDS46333.1	2	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383628	0.25031	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	D;D	0.99607	-6.27;-6.27	5.39	5.39	0.77823	.	0.119377	0.56097	D	0.000022	D	0.97164	0.9073	N	0.11427	0.14	0.46798	D	0.999202	B;B	0.09022	0.002;0.001	B;B	0.08055	0.001;0.003	D	0.96242	0.9176	10	0.05351	T	0.99	.	17.6989	0.88289	0.0:0.0:1.0:0.0	.	173;173	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	K	173	ENSP00000272427:Q173K;ENSP00000386698:Q173K	ENSP00000272427:Q173K	Q	-	1	0	EXOC6B	72798892	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.175000	0.58263	2.506000	0.84524	0.563000	0.77884	CAA	EXOC6B	-	pirsf_Sec15	ENSG00000144036		0.418	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6B	HGNC	protein_coding	OTTHUMT00000327558.1	-	0.00	69	0	G	XM_039570		72945384	-1	tier1	-	no_errors	ENST00000272427	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
FAM135A	57579	genome.wustl.edu	37	6	71186910	71186910	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr6:71186910G>C	ENST00000418814.2	+	8	1031	c.417G>C	c.(415-417)aaG>aaC	p.K139N	FAM135A_ENST00000505868.1_Missense_Mutation_p.K139N|FAM135A_ENST00000370479.3_Missense_Mutation_p.K96N|FAM135A_ENST00000361499.3_Missense_Mutation_p.K139N|FAM135A_ENST00000457062.2_Missense_Mutation_p.K96N|FAM135A_ENST00000505769.1_Missense_Mutation_p.K139N	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	139										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GAACATTGAAGCTGCACTTTA	0.393																																																	0													164.0	144.0	151.0					6																	71186910		2203	4300	6503	SO:0001583	missense	0			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.417G>C	6.37:g.71186910G>C	ENSP00000410768:p.Lys139Asn		A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase	p.K139N	ENST00000418814.2	37	c.417	CCDS55028.1	6	.	.	.	.	.	.	.	.	.	.	G	10.99	1.507668	0.27036	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000515323;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T;T	0.79554	-1.28;2.19;-1.28;-1.28;2.19;-1.28;-1.28	5.56	3.76	0.43208	.	0.106801	0.64402	D	0.000006	T	0.77322	0.4113	L	0.55481	1.735	0.26515	N	0.974535	P;D;D;D	0.89917	0.952;1.0;0.998;0.998	P;D;D;D	0.87578	0.83;0.998;0.923;0.923	T	0.68884	-0.5291	10	0.20519	T	0.43	.	10.413	0.44305	0.2135:0.0:0.7865:0.0	.	139;139;139;96	D6RC17;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	N	139;96;139;139;96;139;139	ENSP00000410768:K139N;ENSP00000359510:K96N;ENSP00000423785:K139N;ENSP00000422406:K139N;ENSP00000409201:K96N;ENSP00000354913:K139N;ENSP00000423307:K139N	ENSP00000354913:K139N	K	+	3	2	FAM135A	71243631	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	2.020000	0.41010	0.692000	0.31613	0.460000	0.39030	AAG	FAM135A	-	pfam_DUF3657	ENSG00000082269		0.393	FAM135A-001	KNOWN	basic|CCDS	protein_coding	FAM135A	HGNC	protein_coding	OTTHUMT00000041137.2	-	0.00	81	0	G	NM_020819		71186910	+1	tier1	-	no_errors	ENST00000418814	ensembl	human	known	74_37	missense	28.26	33	13	SNP	1.000	C
FBXW5	54461	genome.wustl.edu	37	9	139835770	139835770	+	Missense_Mutation	SNP	G	G	A	rs371147879		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr9:139835770G>A	ENST00000325285.3	-	8	1469	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	464					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GTGTAGGCGCGGTGCGCACGC	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		15416	0.001		0.0	False		,,,				2504	0.0																0													44.0	37.0	39.0					9																	139835770		2202	4298	6500	SO:0001583	missense	0			BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13613	protein-coding gene	gene with protein product		609072	"""F-box and WD-40 domain protein 5"""				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.1390C>T	9.37:g.139835770G>A	ENSP00000313034:p.Arg464Cys		B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R464C	ENST00000325285.3	37	c.1390	CCDS7014.1	9	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027891	0.93518	.	.	ENSG00000159069	ENST00000325285	T	0.66638	-0.22	4.24	4.24	0.50183	WD40/YVTN repeat-like-containing domain (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.75679	0.3882	M	0.64997	1.995	0.80722	D	1	D;D	0.71674	0.997;0.998	P;P	0.56612	0.745;0.802	T	0.80049	-0.1545	10	0.72032	D	0.01	-24.776	16.8298	0.85941	0.0:0.0:1.0:0.0	.	329;464	Q59ET5;Q969U6	.;FBXW5_HUMAN	C	464	ENSP00000313034:R464C	ENSP00000313034:R464C	R	-	1	0	FBXW5	138955591	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.696000	0.61774	2.204000	0.70986	0.561000	0.74099	CGC	FBXW5	-	superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat	ENSG00000159069		0.672	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW5	HGNC	protein_coding	OTTHUMT00000055227.1	-	0.00	82	0	G	NM_018998		139835770	-1	tier1	-	no_errors	ENST00000325285	ensembl	human	known	74_37	missense	42.86	20	15	SNP	1.000	A
FBXW7	55294	genome.wustl.edu	37	4	153253853	153253853	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr4:153253853A>G	ENST00000281708.4	-	6	2109	c.880T>C	c.(880-882)Tca>Cca	p.S294P	FBXW7_ENST00000603841.1_Missense_Mutation_p.S294P|FBXW7_ENST00000393956.3_Missense_Mutation_p.S118P|FBXW7_ENST00000603548.1_Missense_Mutation_p.S294P|FBXW7_ENST00000296555.5_Missense_Mutation_p.S176P|FBXW7_ENST00000263981.5_Missense_Mutation_p.S214P	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	294	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCCAGGAATGAAAGCACATAG	0.348			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											58.0	58.0	58.0					4																	153253853		2203	4300	6503	SO:0001583	missense	0			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.880T>C	4.37:g.153253853A>G	ENSP00000281708:p.Ser294Pro		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S294P	ENST00000281708.4	37	c.880	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	A	27.5	4.835110	0.91117	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	6.02	6.02	0.97574	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.122936	0.64402	D	0.000020	T	0.75421	0.3847	M	0.91663	3.23	0.80722	D	1	D;D;D;D	0.67145	0.966;0.996;0.958;0.958	P;P;P;B	0.51895	0.551;0.683;0.52;0.416	T	0.82345	-0.0503	10	0.87932	D	0	-12.7293	16.542	0.84395	1.0:0.0:0.0:0.0	.	118;294;176;214	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	P	294;176;214;118	ENSP00000281708:S294P;ENSP00000296555:S176P;ENSP00000263981:S214P;ENSP00000377528:S118P	ENSP00000263981:S214P	S	-	1	0	FBXW7	153473303	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.268000	0.95675	2.304000	0.77564	0.528000	0.53228	TCA	FBXW7	-	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	ENSG00000109670		0.348	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1		0.00	75	0	A			153253853	-1			no_errors	ENST00000281708	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	G
FGFR2	2263	genome.wustl.edu	37	10	123245035	123245035	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:123245035C>T	ENST00000358487.5	-	16	2341	c.2069G>A	c.(2068-2070)gGg>gAg	p.G690E	FGFR2_ENST00000346997.2_Missense_Mutation_p.G688E|FGFR2_ENST00000369056.1_Missense_Mutation_p.G691E|FGFR2_ENST00000369061.4_Missense_Mutation_p.G578E|FGFR2_ENST00000356226.4_Missense_Mutation_p.G573E|FGFR2_ENST00000457416.2_Missense_Mutation_p.G691E|FGFR2_ENST00000357555.5_Missense_Mutation_p.G601E|FGFR2_ENST00000369059.1_Missense_Mutation_p.G576E|FGFR2_ENST00000478859.1_Missense_Mutation_p.G462E|FGFR2_ENST00000360144.3_Missense_Mutation_p.G602E|FGFR2_ENST00000369060.4_Missense_Mutation_p.G574E|FGFR2_ENST00000351936.6_Missense_Mutation_p.G688E	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	690	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CATTAACACCCCGAAGGACCA	0.507		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																															Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	0													91.0	83.0	86.0					10																	123245035		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.2069G>A	10.37:g.123245035C>T	ENSP00000351276:p.Gly690Glu		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.G691E	ENST00000358487.5	37	c.2072	CCDS31298.1	10	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018629	0.93404	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99282	-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68	5.17	5.17	0.71159	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99743	0.9898	H	0.99156	4.45	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.987;0.998;0.987;0.999;0.978;1.0	D	0.96945	0.9690	10	0.72032	D	0.01	.	19.0288	0.92946	0.0:1.0:0.0:0.0	.	707;689;601;573;690;602;691;593	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	E	601;691;578;690;573;574;576;282;688;691;688;602;691;691;599	ENSP00000350166:G601E;ENSP00000358057:G578E;ENSP00000351276:G690E;ENSP00000348559:G573E;ENSP00000358056:G574E;ENSP00000358055:G576E;ENSP00000404219:G282E;ENSP00000263451:G688E;ENSP00000410294:G691E;ENSP00000309878:G688E;ENSP00000353262:G602E;ENSP00000358052:G691E;ENSP00000358054:G691E;ENSP00000337665:G599E	ENSP00000337665:G599E	G	-	2	0	FGFR2	123235025	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.690000	0.84178	2.544000	0.85801	0.655000	0.94253	GGG	FGFR2	-	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000066468		0.507	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	FGFR2	HGNC	protein_coding	OTTHUMT00000050715.1		0.00	94	0	C	NM_022976, NM_000141		123245035	-1			no_errors	ENST00000457416	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	T
FLG	2312	genome.wustl.edu	37	1	152281918	152281918	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:152281918C>T	ENST00000368799.1	-	3	5479	c.5444G>A	c.(5443-5445)gGa>gAa	p.G1815E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1815	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)			CCCTGGGTGTCCACGAATGGT	0.592									Ichthyosis																																								0													356.0	362.0	360.0					1																	152281918		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	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.5444G>A	1.37:g.152281918C>T	ENSP00000357789:p.Gly1815Glu		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.G1815E	ENST00000368799.1	37	c.5444	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	c	4.048	0.006616	0.07866	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.07567	3.18	3.25	-0.093	0.13652	.	.	.	.	.	T	0.03695	0.0105	M	0.81239	2.535	0.09310	N	1	B	0.17667	0.023	B	0.20184	0.028	T	0.40079	-0.9582	9	0.72032	D	0.01	.	1.6968	0.02863	0.2123:0.4546:0.2072:0.1259	.	1815	P20930	FILA_HUMAN	E	1815;50	ENSP00000357789:G1815E	ENSP00000271820:G50E	G	-	2	0	FLG	150548542	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.083000	0.03397	0.231000	0.21079	-0.363000	0.07495	GGA	FLG	-	NULL	ENSG00000143631		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0.00	212	0	C	NM_002016		152281918	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	6.94	133	10	SNP	0.000	T
FLYWCH2	114984	genome.wustl.edu	37	16	2949264	2949264	+	3'UTR	DEL	C	C	-			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:2949264delC	ENST00000396958.3	+	0	917				FLYWCH2_ENST00000572786.1_3'UTR|FLYWCH2_ENST00000293981.6_3'UTR	NM_001142500.1|NM_138439.2	NP_001135972.1|NP_612448.1	Q96CP2	FWCH2_HUMAN	FLYWCH family member 2								poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|lung(3)|ovary(1)|skin(1)	6						TGTGTGAtttcttttcttttt	0.398																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC014089	CCDS10482.1	16p13.3	2014-02-12	2007-06-21		ENSG00000162076	ENSG00000162076			25178	protein-coding gene	gene with protein product						12477932	Standard	NM_138439		Approved		uc010uwk.2	Q96CP2	OTTHUMG00000128962	ENST00000396958.3:c.*114C>-	16.37:g.2949264delC				RNA	DEL	-	NULL	ENST00000396958.3	37	NULL	CCDS10482.1	16																																																																																			FLYWCH2	-	-	ENSG00000162076		0.398	FLYWCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLYWCH2	HGNC	protein_coding	OTTHUMT00000250944.1		0.00	46	0	C	NM_138439		2949264	+1	tier1		no_errors	ENST00000572786	ensembl	human	putative	74_37	rna	13.64	19	3	DEL	0.001	-
FPR1	2357	genome.wustl.edu	37	19	52249357	52249357	+	Missense_Mutation	SNP	G	G	C	rs571424983		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr19:52249357G>C	ENST00000595042.1	-	3	1032	c.891C>G	c.(889-891)aaC>aaG	p.N297K	FPR1_ENST00000304748.4_Missense_Mutation_p.N297K	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	297					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	AGAGCATGGGGTTGAGGCAGC	0.547																																																	0													131.0	111.0	118.0					19																	52249357		2203	4300	6503	SO:0001583	missense	0			M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.891C>G	19.37:g.52249357G>C	ENSP00000471493:p.Asn297Lys		Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt	p.N297K	ENST00000595042.1	37	c.891	CCDS12839.1	19	.	.	.	.	.	.	.	.	.	.	.	16.26	3.072483	0.55646	.	.	ENSG00000171051	ENST00000304748	D	0.85411	-1.98	3.55	1.34	0.21922	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.94394	0.8197	H	0.98833	4.345	0.40745	D	0.982868	D	0.89917	1.0	D	0.97110	1.0	D	0.92305	0.5853	10	0.87932	D	0	.	7.6608	0.28402	0.2278:0.0:0.7722:0.0	.	297	P21462	FPR1_HUMAN	K	297	ENSP00000302707:N297K	ENSP00000302707:N297K	N	-	3	2	FPR1	56941169	1.000000	0.71417	0.980000	0.43619	0.697000	0.40408	1.976000	0.40579	0.263000	0.21812	-0.145000	0.13849	AAC	FPR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000171051		0.547	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FPR1	HGNC	protein_coding	OTTHUMT00000466905.1	-	0.00	65	0	G	NM_002029		52249357	-1	tier1	-	no_errors	ENST00000304748	ensembl	human	known	74_37	missense	12.20	36	5	SNP	1.000	C
FRAS1	80144	genome.wustl.edu	37	4	79343066	79343066	+	Silent	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr4:79343066G>T	ENST00000325942.6	+	34	5030	c.4590G>T	c.(4588-4590)acG>acT	p.T1530T	FRAS1_ENST00000264895.6_Silent_p.T1530T	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1530					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.T1530T(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGTATTTCACGCAAGAGGATA	0.552																																																	3	Substitution - coding silent(3)	lung(3)											192.0	202.0	199.0					4																	79343066		2039	4171	6210	SO:0001819	synonymous_variant	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4590G>T	4.37:g.79343066G>T			A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.T1530	ENST00000325942.6	37	c.4590	CCDS54772.1	4																																																																																			FRAS1	-	NULL	ENSG00000138759		0.552	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2		0.00	60	0	G			79343066	+1			no_errors	ENST00000264895	ensembl	human	known	74_37	silent	6.67	28	2	SNP	0.010	T
GABPA	2551	genome.wustl.edu	37	21	27117646	27117646	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr21:27117646T>A	ENST00000354828.3	+	3	730	c.203T>A	c.(202-204)aTt>aAt	p.I68N	GABPA_ENST00000487266.1_3'UTR|GABPA_ENST00000400075.3_Missense_Mutation_p.I68N	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	68					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|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 coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						GCTCATGAAATTTGTCTGCAA	0.333																																																	0													64.0	65.0	65.0					21																	27117646		2203	4300	6503	SO:0001583	missense	0				CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit"""	600609	"""GA-binding protein transcription factor, alpha subunit (60kD)"""			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.203T>A	21.37:g.27117646T>A	ENSP00000346886:p.Ile68Asn		Q12939	Missense_Mutation	SNP	pfam_GABP_asu_N,pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pirsf_TF_GA-bd_asu,pfscan_Ets_dom,prints_Ets_dom	p.I68N	ENST00000354828.3	37	c.203	CCDS13575.1	21	.	.	.	.	.	.	.	.	.	.	T	21.5	4.163696	0.78226	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.15372	2.43;2.43	5.23	5.23	0.72850	GA-binding protein alpha subunit, N-terminal (1);	0.000000	0.64402	D	0.000006	T	0.37128	0.0992	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.12656	-1.0539	10	0.87932	D	0	.	14.7791	0.69751	0.0:0.0:0.0:1.0	.	68	Q06546	GABPA_HUMAN	N	68	ENSP00000346886:I68N;ENSP00000382948:I68N	ENSP00000346886:I68N	I	+	2	0	GABPA	26039517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.640000	0.83355	1.972000	0.57404	0.533000	0.62120	ATT	GABPA	-	pfam_GABP_asu_N,pirsf_TF_GA-bd_asu	ENSG00000154727		0.333	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GABPA	HGNC	protein_coding	OTTHUMT00000171365.1		0.00	81	0	T	NM_002040		27117646	+1			no_errors	ENST00000354828	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	A
GALNT15	117248	genome.wustl.edu	37	3	16237381	16237381	+	Silent	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr3:16237381G>T	ENST00000339732.5	+	2	1157	c.654G>T	c.(652-654)gtG>gtT	p.V218V	GALNT15_ENST00000437509.1_Silent_p.V218V	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	218	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TCGACACAGTGCCCAGGGCCT	0.612																																																	0													91.0	69.0	76.0					3																	16237381		2203	4300	6503	SO:0001819	synonymous_variant	0			AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.654G>T	3.37:g.16237381G>T			A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.V218	ENST00000339732.5	37	c.654	CCDS33711.1	3																																																																																			GALNT15	-	pfam_Glyco_trans_2	ENSG00000131386		0.612	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT15	HGNC	protein_coding	OTTHUMT00000346483.2	-	0.00	62	0	G	NM_054110		16237381	+1	tier1	-	no_errors	ENST00000339732	ensembl	human	known	74_37	silent	12.00	22	3	SNP	0.180	T
GAS1	2619	genome.wustl.edu	37	9	89561648	89561648	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr9:89561648G>T	ENST00000298743.7	-	1	456	c.47C>A	c.(46-48)aCa>aAa	p.T16K	RP11-276H19.1_ENST00000415801.1_lincRNA	NM_002048.2	NP_002039.2	P54826	GAS1_HUMAN	growth arrest-specific 1	16					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cerebellum morphogenesis (GO:0021587)|developmental growth (GO:0048589)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|eye morphogenesis (GO:0048592)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein processing (GO:0010955)|negative regulation of smoothened signaling pathway (GO:0045879)|odontogenesis (GO:0042476)|outer ear morphogenesis (GO:0042473)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|programmed cell death (GO:0012501)|regulation of apoptotic process (GO:0042981)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|regulation of smoothened signaling pathway (GO:0008589)	anchored component of plasma membrane (GO:0046658)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|lung(2)|skin(1)	4						GCCCGGCACTGTccccccgcg	0.796																																																	0													1.0	1.0	1.0					9																	89561648		164	387	551	SO:0001583	missense	0				CCDS6674.1	9q21.3-q22	2008-07-21			ENSG00000180447	ENSG00000180447			4165	protein-coding gene	gene with protein product	"""Growth arrest-specific gene-1"""	139185				8307588	Standard	NM_002048		Approved		uc004aox.4	P54826	OTTHUMG00000020141	ENST00000298743.7:c.47C>A	9.37:g.89561648G>T	ENSP00000298743:p.Thr16Lys		B9EGM4|Q6B086	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1	p.T16K	ENST00000298743.7	37	c.47	CCDS6674.1	9	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609869	0.28712	.	.	ENSG00000180447	ENST00000298743	D	0.82526	-1.62	3.04	3.04	0.35103	.	0.906785	0.09144	U	0.842598	T	0.69495	0.3117	N	0.19112	0.55	0.09310	N	1	B	0.28636	0.218	B	0.24394	0.053	T	0.61133	-0.7124	10	0.66056	D	0.02	.	5.4222	0.16405	0.1173:0.0:0.682:0.2008	.	16	P54826	GAS1_HUMAN	K	16	ENSP00000298743:T16K	ENSP00000298743:T16K	T	-	2	0	GAS1	88751468	0.777000	0.28628	0.888000	0.34837	0.602000	0.36980	2.697000	0.47060	1.239000	0.43787	0.298000	0.19748	ACA	GAS1	-	NULL	ENSG00000180447		0.796	GAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS1	HGNC	protein_coding	OTTHUMT00000052928.1	-	0.00	54	0	G	NM_002048		89561648	-1	tier1	-	no_errors	ENST00000298743	ensembl	human	known	74_37	missense	14.29	36	6	SNP	0.140	T
GLRB	2743	genome.wustl.edu	37	4	158065089	158065089	+	Silent	SNP	G	G	A	rs376097077		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr4:158065089G>A	ENST00000264428.4	+	8	1152	c.882G>A	c.(880-882)gcG>gcA	p.A294A	GLRB_ENST00000541722.1_Silent_p.A294A|GLRB_ENST00000509282.1_Silent_p.A294A|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	294					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	ACCCGGACGCGAGTGCTGCCA	0.483																																																	0								G	,,	1,4405	2.1+/-5.4	0,1,2202	143.0	121.0	129.0		882,882,882	-11.9	0.1	4		129	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	GLRB	NM_000824.4,NM_001166060.1,NM_001166061.1	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	294/498,294/498,294/304	158065089	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.882G>A	4.37:g.158065089G>A			A8K3K2|D3DP23|F5GWE1	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.A294	ENST00000264428.4	37	c.882	CCDS3796.1	4																																																																																			GLRB	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000109738		0.483	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRB	HGNC	protein_coding	OTTHUMT00000366507.1		0.00	81	0	G	NM_000824		158065089	+1			no_errors	ENST00000264428	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.101	A
GNPAT	8443	genome.wustl.edu	37	1	231403505	231403505	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:231403505G>C	ENST00000366647.4	+	9	1304	c.1135G>C	c.(1135-1137)Gaa>Caa	p.E379Q	GNPAT_ENST00000366646.3_Missense_Mutation_p.E318Q	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	379					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TCTGCAAATTGAAAACATGGT	0.453																																																	0													121.0	114.0	116.0					1																	231403505		2203	4300	6503	SO:0001583	missense	0			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1135G>C	1.37:g.231403505G>C	ENSP00000355607:p.Glu379Gln		B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.E379Q	ENST00000366647.4	37	c.1135	CCDS1592.1	1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.468799	0.26335	.	.	ENSG00000116906	ENST00000366647;ENST00000366646;ENST00000416000	T;T;T	0.65178	-0.14;-0.13;-0.13	5.09	3.23	0.37069	.	0.248012	0.40908	N	0.000994	T	0.45796	0.1360	N	0.26042	0.785	0.41689	D	0.989337	B;B	0.12013	0.005;0.0	B;B	0.12156	0.007;0.005	T	0.26258	-1.0108	10	0.33141	T	0.24	.	9.5711	0.39429	0.0852:0.1858:0.729:0.0	.	318;379	B4DNM9;O15228	.;GNPAT_HUMAN	Q	379;318;369	ENSP00000355607:E379Q;ENSP00000355606:E318Q;ENSP00000411640:E369Q	ENSP00000355606:E318Q	E	+	1	0	GNPAT	229470128	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	3.676000	0.54612	0.549000	0.28973	-0.216000	0.12614	GAA	GNPAT	-	NULL	ENSG00000116906		0.453	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNPAT	HGNC	protein_coding	OTTHUMT00000092871.1	-	0.00	82	0	G			231403505	+1	tier1	-	no_errors	ENST00000366647	ensembl	human	known	74_37	missense	45.83	39	33	SNP	1.000	C
GNPTAB	79158	genome.wustl.edu	37	12	102183823	102183823	+	Silent	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:102183823G>A	ENST00000299314.7	-	3	478	c.216C>T	c.(214-216)ccC>ccT	p.P72P	snoU13_ENST00000459085.1_RNA|GNPTAB_ENST00000549940.1_Silent_p.P72P	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	72					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)	p.P72P(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CAATCGGCATGGGCAGACAAA	0.433																																																	1	Substitution - coding silent(1)	kidney(1)											180.0	160.0	167.0					12																	102183823		2203	4300	6503	SO:0001819	synonymous_variant	0			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.216C>T	12.37:g.102183823G>A			A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Silent	SNP	pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom	p.P72	ENST00000299314.7	37	c.216	CCDS9088.1	12																																																																																			GNPTAB	-	NULL	ENSG00000111670		0.433	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	HGNC	protein_coding	OTTHUMT00000409182.1		0.00	90	0	G			102183823	-1			no_errors	ENST00000299314	ensembl	human	known	74_37	silent	8.33	44	4	SNP	1.000	A
GOLGA6D	653643	genome.wustl.edu	37	15	75586142	75586142	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr15:75586142G>A	ENST00000434739.3	+	15	1707	c.1666G>A	c.(1666-1668)Gtc>Atc	p.V556I	RN7SL327P_ENST00000488659.2_RNA	NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	556						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						GCTTGGATTCGTCCAGCCTTC	0.622																																																	0													34.0	54.0	51.0					15																	75586142		110	646	756	SO:0001583	missense	0				CCDS45308.1	15q24.2	2013-05-10	2010-02-12	2009-09-04	ENSG00000140478	ENSG00000140478			32204	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6D"""				Standard	NM_001145224		Approved		uc010uma.2	P0CG33	OTTHUMG00000172672	ENST00000434739.3:c.1666G>A	15.37:g.75586142G>A	ENSP00000391085:p.Val556Ile			Missense_Mutation	SNP	NULL	p.V556I	ENST00000434739.3	37	c.1666	CCDS45308.1	15	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.545858	0.00926	.	.	ENSG00000140478	ENST00000434739	T	0.17213	2.29	1.63	-1.32	0.09201	.	.	.	.	.	T	0.02807	0.0084	N	0.00178	-1.915	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.41574	-0.9501	9	0.21014	T	0.42	.	2.6651	0.05041	0.617:0.0:0.157:0.2259	.	556	P0CG33	GOG6D_HUMAN	I	556	ENSP00000391085:V556I	ENSP00000391085:V556I	V	+	1	0	GOLGA6D	73373195	0.998000	0.40836	0.003000	0.11579	0.002000	0.02628	2.506000	0.45433	-0.283000	0.09115	-2.500000	0.00191	GTC	GOLGA6D	-	NULL	ENSG00000140478		0.622	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6D	HGNC	protein_coding	OTTHUMT00000419798.1	-	0.00	233	0	G	NM_001145224		75586142	+1	tier1	-	no_errors	ENST00000434739	ensembl	human	known	74_37	missense	14.09	128	21	SNP	1.000	A
GP2	2813	genome.wustl.edu	37	16	20326021	20326021	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:20326021C>T	ENST00000381362.4	-	11	1589	c.1513G>A	c.(1513-1515)Gca>Aca	p.A505T	GP2_ENST00000381360.5_Missense_Mutation_p.A358T|GP2_ENST00000341642.5_Missense_Mutation_p.A355T|GP2_ENST00000302555.5_Missense_Mutation_p.A502T	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	505				A -> G (in Ref. 5; BAA07400). {ECO:0000305}.	antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGAGACTGTGCACCTGTGAAC	0.502																																																	0													153.0	122.0	133.0					16																	20326021		2203	4300	6503	SO:0001583	missense	0			U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1513G>A	16.37:g.20326021C>T	ENSP00000370767:p.Ala505Thr		A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.A505T	ENST00000381362.4	37	c.1513	CCDS42128.1	16	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351691	0.24512	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.90788	-2.73;-2.72;-1.5;-1.52	4.39	-2.88	0.05682	.	.	.	.	.	T	0.81230	0.4779	L	0.43152	1.355	0.09310	N	1	B;B;B;B	0.18166	0.001;0.026;0.003;0.001	B;B;B;B	0.12156	0.005;0.007;0.003;0.002	T	0.63598	-0.6601	9	0.14252	T	0.57	-0.5634	3.0954	0.06308	0.3075:0.3186:0.0:0.3739	.	355;483;502;505	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	T	502;505;358;355;483	ENSP00000304044:A502T;ENSP00000370767:A505T;ENSP00000370765:A358T;ENSP00000343861:A355T	ENSP00000304044:A502T	A	-	1	0	GP2	20233522	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-0.692000	0.05127	-0.265000	0.09352	-0.224000	0.12420	GCA	GP2	-	NULL	ENSG00000169347		0.502	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GP2	HGNC	protein_coding	OTTHUMT00000436920.1		0.00	117	0	C	NM_016295		20326021	-1			no_errors	ENST00000381362	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.002	T
GPR182	11318	genome.wustl.edu	37	12	57390113	57390113	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:57390113G>A	ENST00000300098.1	+	2	1339	c.1120G>A	c.(1120-1122)Gcc>Acc	p.A374T	RP11-474N8.5_ENST00000556850.1_RNA|HBCBP_ENST00000600202.1_5'Flank	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	374					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						TGCTGCAGCAGCCCCCCACCC	0.577																																																	0													84.0	79.0	80.0					12																	57390113		2203	4300	6503	SO:0001583	missense	0			Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"""GPCR / Class A : Orphans"""	13708	protein-coding gene	gene with protein product		605307	"""adrenomedullin receptor"""	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.1120G>A	12.37:g.57390113G>A	ENSP00000300098:p.Ala374Thr			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_G10D_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt	p.A374T	ENST00000300098.1	37	c.1120	CCDS8927.1	12	.	.	.	.	.	.	.	.	.	.	G	5.283	0.237592	0.10023	.	.	ENSG00000166856	ENST00000300098	T	0.70749	-0.51	4.81	-2.02	0.07388	.	0.832015	0.10312	N	0.689800	T	0.41766	0.1173	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15464	-1.0436	10	0.32370	T	0.25	.	2.2732	0.04095	0.3237:0.1213:0.4316:0.1235	.	374	O15218	GP182_HUMAN	T	374	ENSP00000300098:A374T	ENSP00000300098:A374T	A	+	1	0	GPR182	55676380	0.006000	0.16342	0.000000	0.03702	0.013000	0.08279	1.569000	0.36428	-0.416000	0.07473	-1.786000	0.00637	GCC	GPR182	-	NULL	ENSG00000166856		0.577	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR182	HGNC	protein_coding	OTTHUMT00000411212.1	-	0.00	68	0	G	NM_007264		57390113	+1	tier1	-	no_errors	ENST00000300098	ensembl	human	known	74_37	missense	44.68	26	21	SNP	0.000	A
GPR75-ASB3	100302652	genome.wustl.edu	37	2	53897541	53897541	+	3'UTR	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:53897541C>T	ENST00000263634.3	-	0	1790				GPR75-ASB3_ENST00000406687.1_3'UTR|GPR75-ASB3_ENST00000482829.1_5'UTR|ASB3_ENST00000406625.2_3'UTR|GPR75-ASB3_ENST00000394717.2_3'UTR|GPR75-ASB3_ENST00000352846.3_3'UTR	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough																		CAATAATCATCTTTTGACTAT	0.318																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.*99G>A	2.37:g.53897541C>T				RNA	SNP	-	NULL	ENST00000263634.3	37	NULL	CCDS1846.1	2																																																																																			GPR75-ASB3	-	-	ENSG00000115239		0.318	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR75-ASB3	HGNC	protein_coding	OTTHUMT00000251402.3	-	0.00	170	0	C			53897541	-1	tier1	-	no_errors	ENST00000482829	ensembl	human	known	74_37	rna	16.78	119	24	SNP	0.000	T
GPR98	84059	genome.wustl.edu	37	5	89975401	89975401	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:89975401G>T	ENST00000405460.2	+	26	5575	c.5479G>T	c.(5479-5481)Ggt>Tgt	p.G1827C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1827					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGTGGTAGTGGTGATGGGGA	0.398																																																	0													186.0	189.0	188.0					5																	89975401		1962	4147	6109	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.5479G>T	5.37:g.89975401G>T	ENSP00000384582:p.Gly1827Cys		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.G1827C	ENST00000405460.2	37	c.5479	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040634	0.93685	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.31769	1.48	6.04	6.04	0.98038	.	0.043136	0.85682	D	0.000000	T	0.61999	0.2392	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63269	-0.6675	10	0.87932	D	0	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1827	Q8WXG9	GPR98_HUMAN	C	1827	ENSP00000384582:G1827C	ENSP00000296619:G1827C	G	+	1	0	GPR98	90011157	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.130000	0.94437	2.873000	0.98535	0.561000	0.74099	GGT	GPR98	-	NULL	ENSG00000164199		0.398	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2		0.00	134	0	G	NM_032119		89975401	+1			no_errors	ENST00000405460	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T
GRIA1	2890	genome.wustl.edu	37	5	152870474	152870474	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:152870474G>A	ENST00000285900.5	+	1	369	c.26G>A	c.(25-27)tGc>tAc	p.C9Y	GRIA1_ENST00000518142.1_Missense_Mutation_p.C9Y|GRIA1_ENST00000518783.1_5'Flank|GRIA1_ENST00000521843.2_5'Flank|GRIA1_ENST00000518862.1_Intron|GRIA1_ENST00000340592.5_Missense_Mutation_p.C9Y|GRIA1_ENST00000448073.4_5'Flank	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	9					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GCCTTCTTCTGCACCGGTTTC	0.512																																																	0													239.0	238.0	238.0					5																	152870474		2203	4300	6503	SO:0001583	missense	0				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.26G>A	5.37:g.152870474G>A	ENSP00000285900:p.Cys9Tyr		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.C9Y	ENST00000285900.5	37	c.26	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925265	0.73213	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592	T;T;T	0.12039	2.72;2.73;2.72	5.3	5.3	0.74995	.	0.050353	0.85682	D	0.000000	T	0.07728	0.0194	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.09377	0.001;0.004;0.003	T	0.35699	-0.9778	10	0.27082	T	0.32	.	17.9324	0.89002	0.0:0.0:1.0:0.0	.	9;9;9	B7Z3F6;P42261-2;P42261	.;.;GRIA1_HUMAN	Y	9	ENSP00000285900:C9Y;ENSP00000427920:C9Y;ENSP00000339343:C9Y	ENSP00000285900:C9Y	C	+	2	0	GRIA1	152850667	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.558000	0.60789	2.466000	0.83321	0.563000	0.77884	TGC	GRIA1	-	NULL	ENSG00000155511		0.512	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3	-	0.00	91	0	G			152870474	+1	tier1	-	no_errors	ENST00000285900	ensembl	human	known	74_37	missense	9.09	50	5	SNP	1.000	A
GRM2	2912	genome.wustl.edu	37	3	51746593	51746593	+	Silent	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr3:51746593G>T	ENST00000395052.3	+	3	789	c.555G>T	c.(553-555)gtG>gtT	p.V185V	GRM2_ENST00000442933.2_Silent_p.V185V|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	185					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|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)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCCGCACAGTGCCTCCTGACT	0.542																																																	0													175.0	154.0	161.0					3																	51746593		2203	4300	6503	SO:0001819	synonymous_variant	0			L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.555G>T	3.37:g.51746593G>T			B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Silent	SNP	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_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B	p.V185	ENST00000395052.3	37	c.555	CCDS2834.1	3																																																																																			GRM2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3	ENSG00000164082		0.542	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM2	HGNC	protein_coding	OTTHUMT00000346542.1	-	0.00	104	0	G			51746593	+1	tier1	-	no_errors	ENST00000395052	ensembl	human	known	74_37	silent	8.70	42	4	SNP	1.000	T
GTF3C5	9328	genome.wustl.edu	37	9	135917627	135917627	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr9:135917627G>A	ENST00000372097.5	+	2	630	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	GTF3C5_ENST00000372099.6_Missense_Mutation_p.A94T|GTF3C5_ENST00000372095.5_Intron|GTF3C5_ENST00000485692.1_Intron|GTF3C5_ENST00000372108.5_Missense_Mutation_p.A103T|GTF3C5_ENST00000342018.8_Missense_Mutation_p.A103T	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	103					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.A103T(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GGGCACTGAGGCCCACTCCGA	0.532																																																	1	Substitution - Missense(1)	lung(1)											87.0	87.0	87.0					9																	135917627		2203	4300	6503	SO:0001583	missense	0			AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.307G>A	9.37:g.135917627G>A	ENSP00000361169:p.Ala103Thr		A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP	pfam_TF_IIIC_su-5	p.A103T	ENST00000372097.5	37	c.307	CCDS6958.1	9	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812714	0.32053	.	.	ENSG00000148308	ENST00000372097;ENST00000440319;ENST00000372099;ENST00000372108;ENST00000342018	T;T;T;T	0.49139	0.79;0.85;0.8;0.82	5.34	0.571	0.17352	.	0.541334	0.17463	N	0.173365	T	0.21881	0.0527	N	0.20401	0.57	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.09357	-1.0678	10	0.14252	T	0.57	-39.7735	0.2589	0.00216	0.3407:0.1979:0.2621:0.1993	.	103;103	Q9Y5Q8-3;Q9Y5Q8	.;TF3C5_HUMAN	T	103;56;94;103;103	ENSP00000361169:A103T;ENSP00000361171:A94T;ENSP00000361180:A103T;ENSP00000339530:A103T	ENSP00000339530:A103T	A	+	1	0	GTF3C5	134907448	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	-0.250000	0.08830	0.181000	0.19994	0.655000	0.94253	GCC	GTF3C5	-	pfam_TF_IIIC_su-5	ENSG00000148308		0.532	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C5	HGNC	protein_coding	OTTHUMT00000054826.1		0.00	49	0	G	NM_001122823		135917627	+1			no_errors	ENST00000372108	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.002	A
HABP2	3026	genome.wustl.edu	37	10	115334094	115334094	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:115334094G>T	ENST00000351270.3	+	3	249	c.153G>T	c.(151-153)caG>caT	p.Q51H	HABP2_ENST00000542051.1_Missense_Mutation_p.Q25H|HABP2_ENST00000541666.1_Missense_Mutation_p.Q51H|HABP2_ENST00000537906.1_Missense_Mutation_p.R40M	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	51					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	ATTATAATCAGGAAGAGAACA	0.468																																																	0													152.0	129.0	137.0					10																	115334094		2203	4300	6503	SO:0001583	missense	0				CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.153G>T	10.37:g.115334094G>T	ENSP00000277903:p.Gln51His		A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Kringle,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.Q51H	ENST00000351270.3	37	c.153	CCDS7577.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.563|5.563	0.288806|0.288806	0.10513|0.10513	.|.	.|.	ENSG00000148702|ENSG00000148702	ENST00000542051;ENST00000351270;ENST00000541666|ENST00000537906	D;D;D|.	0.87966|.	-2.32;-2.31;-2.03|.	4.31|4.31	0.189|0.189	0.15119|0.15119	.|.	1.402260|.	0.04047|.	N|.	0.304088|.	T|T	0.24431|0.24431	0.0592|0.0592	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|P	0.06786|0.41784	0.001|0.762	B|B	0.04013|0.44278	0.001|0.445	T|T	0.14980|0.14980	-1.0453|-1.0453	10|8	0.35671|0.87932	T|D	0.21|0	.|.	3.9597|3.9597	0.09405|0.09405	0.1887:0.0:0.4835:0.3277|0.1887:0.0:0.4835:0.3277	.|.	51|40	Q14520|F5H475	HABP2_HUMAN|.	H|M	25;51;51|40	ENSP00000443283:Q25H;ENSP00000277903:Q51H;ENSP00000438373:Q51H|.	ENSP00000277903:Q51H|ENSP00000446135:R40M	Q|R	+|+	3|2	2|0	HABP2|HABP2	115324084|115324084	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	0.233000|0.233000	0.17911|0.17911	0.039000|0.039000	0.15632|0.15632	0.563000|0.563000	0.77884|0.77884	CAG|AGG	HABP2	-	NULL	ENSG00000148702		0.468	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HABP2	HGNC	protein_coding	OTTHUMT00000050428.1	-	0.00	121	0	G	NM_004132		115334094	+1	tier1	-	no_errors	ENST00000351270	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.001	T
HCAR3	8843	genome.wustl.edu	37	12	123200854	123200854	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:123200854G>A	ENST00000528880.2	-	1	585	c.431C>T	c.(430-432)gCa>gTa	p.A144V	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	144					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	GATGATGGCTGCTGTCCAATT	0.547																																																	0													116.0	111.0	113.0					12																	123200854		2203	4300	6503	SO:0001583	missense	0			D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	16824	protein-coding gene	gene with protein product		606039	"""G protein-coupled receptor 109B"""	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.431C>T	12.37:g.123200854G>A	ENSP00000436714:p.Ala144Val		A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.A144V	ENST00000528880.2	37	c.431	CCDS53842.1	12	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413155	0.25465	.	.	ENSG00000255398	ENST00000528880	T	0.40225	1.04	3.26	2.36	0.29203	.	.	.	.	.	T	0.61949	0.2388	M	0.85373	2.75	0.09310	N	1	D	0.76494	0.999	D	0.79108	0.992	T	0.50268	-0.8848	9	0.87932	D	0	.	4.2858	0.10855	0.1289:0.0:0.6486:0.2225	.	144	E9PI97	.	V	144	ENSP00000436714:A144V	ENSP00000436714:A144V	A	-	2	0	HCAR3	121766807	0.990000	0.36364	0.004000	0.12327	0.199000	0.23934	2.226000	0.42963	0.468000	0.27243	0.184000	0.17185	GCA	HCAR3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000255398		0.547	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR3	HGNC	protein_coding	OTTHUMT00000387549.2	-	0.00	76	0	G	NM_006018		123200854	-1	tier1	-	no_errors	ENST00000528880	ensembl	human	known	74_37	missense	7.46	62	5	SNP	0.071	A
HDHD3	81932	genome.wustl.edu	37	9	116136524	116136524	+	Silent	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr9:116136524C>T	ENST00000238379.5	-	2	1008	c.111G>A	c.(109-111)ggG>ggA	p.G37G	HDHD3_ENST00000374180.3_Silent_p.G37G|HDHD3_ENST00000485934.1_5'UTR	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	37						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			large_intestine(2)|liver(1)	3						CCACCTCCAGCCCATGGGCCC	0.647																																																	0													34.0	29.0	31.0					9																	116136524		2203	4299	6502	SO:0001819	synonymous_variant	0			AK097067	CCDS6793.1	9q33.1	2006-04-12	2004-08-09	2004-08-12	ENSG00000119431	ENSG00000119431			28171	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 158"""	C9orf158		12477932	Standard	NM_031219		Approved	MGC12904	uc004bhi.1	Q9BSH5	OTTHUMG00000020524	ENST00000238379.5:c.111G>A	9.37:g.116136524C>T			B2RD47	Silent	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_hydro_IA_REG-2-like,tigrfam_HAD-SF_hydro_IA	p.G37	ENST00000238379.5	37	c.111	CCDS6793.1	9																																																																																			HDHD3	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_REG-2-like	ENSG00000119431		0.647	HDHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDHD3	HGNC	protein_coding	OTTHUMT00000053731.1	-	0.00	74	0	C	NM_031219		116136524	-1	tier1	-	no_errors	ENST00000238379	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.944	T
HERC1	8925	genome.wustl.edu	37	15	63966633	63966633	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr15:63966633C>T	ENST00000443617.2	-	38	7841	c.7754G>A	c.(7753-7755)gGa>gAa	p.G2585E	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2585					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATCAGCTAATCCCAATGCTCT	0.478																																																	0													62.0	61.0	61.0					15																	63966633		1971	4161	6132	SO:0001583	missense	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.7754G>A	15.37:g.63966633C>T	ENSP00000390158:p.Gly2585Glu		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.G2585E	ENST00000443617.2	37	c.7754	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113542	0.56398	.	.	ENSG00000103657	ENST00000443617	T	0.25414	1.8	5.87	5.87	0.94306	.	0.070493	0.53938	D	0.000048	T	0.22003	0.0530	N	0.19112	0.55	0.58432	D	0.999997	P	0.50443	0.935	B	0.41236	0.351	T	0.02093	-1.1215	10	0.66056	D	0.02	.	20.1991	0.98252	0.0:1.0:0.0:0.0	.	2585	Q15751	HERC1_HUMAN	E	2585	ENSP00000390158:G2585E	ENSP00000390158:G2585E	G	-	2	0	HERC1	61753686	1.000000	0.71417	0.983000	0.44433	0.997000	0.91878	3.946000	0.56644	2.775000	0.95449	0.650000	0.86243	GGA	HERC1	-	NULL	ENSG00000103657		0.478	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	-	0.00	69	0	C	NM_003922		63966633	-1	tier1	-	no_errors	ENST00000443617	ensembl	human	known	74_37	missense	32.79	41	20	SNP	0.999	T
HGSNAT	138050	genome.wustl.edu	37	8	43052113	43052113	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr8:43052113A>T	ENST00000458501.2	+	15	1571	c.1571A>T	c.(1570-1572)tAc>tTc	p.Y524F	HGSNAT_ENST00000521576.1_Missense_Mutation_p.Y213F|HGSNAT_ENST00000379644.4_Missense_Mutation_p.Y496F|HGSNAT_ENST00000297798.7_Missense_Mutation_p.Y228F			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	524					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CTATTGTATTACAAGGCTCGG	0.383																																																	0													96.0	97.0	96.0					8																	43052113		1876	4111	5987	SO:0001583	missense	0				CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.1571A>T	8.37:g.43052113A>T	ENSP00000389524:p.Tyr524Phe		B4E2V0	Missense_Mutation	SNP	pfam_DUF1624	p.Y524F	ENST00000458501.2	37	c.1571		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.28|10.28	1.307161|1.307161	0.23821|0.23821	.|.	.|.	ENSG00000165102|ENSG00000165102	ENST00000524016|ENST00000458501;ENST00000379644;ENST00000521576;ENST00000297798	.|D;D;D;D	.|0.87571	.|-2.27;-2.27;-2.27;-2.27	5.26|5.26	4.07|4.07	0.47477|0.47477	.|.	.|0.134805	.|0.51477	.|D	.|0.000082	T|T	0.78362|0.78362	0.4271|0.4271	L|L	0.35288|0.35288	1.05|1.05	0.43508|0.43508	D|D	0.995762|0.995762	.|P	.|0.34780	.|0.468	.|B	.|0.37091	.|0.241	T|T	0.69771|0.69771	-0.5055|-0.5055	5|10	.|0.09843	.|T	.|0.71	-15.7079|-15.7079	9.2479|9.2479	0.37539|0.37539	0.8177:0.1823:0.0:0.0|0.8177:0.1823:0.0:0.0	.|.	.|524	.|Q68CP4	.|HGNAT_HUMAN	F|F	234|524;496;213;228	.|ENSP00000389524:Y524F;ENSP00000368965:Y496F;ENSP00000429029:Y213F;ENSP00000297798:Y228F	.|ENSP00000297798:Y228F	L|Y	+|+	3|2	2|0	HGSNAT|HGSNAT	43171270|43171270	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.162000|0.162000	0.22319|0.22319	6.900000|6.900000	0.75687|0.75687	0.902000|0.902000	0.36520|0.36520	0.533000|0.533000	0.62120|0.62120	TTA|TAC	HGSNAT	-	NULL	ENSG00000165102		0.383	HGSNAT-202	KNOWN	basic	protein_coding	HGSNAT	HGNC	protein_coding		-	0.00	130	0	A	XM_372038		43052113	+1	tier1	-	no_errors	ENST00000458501	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T
HIST1H4B	8366	genome.wustl.edu	37	6	26027418	26027418	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr6:26027418delT	ENST00000377364.3	-	1	62	c.63delA	c.(61-63)aaafs	p.K21fs		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	21					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						CCCGCAGCACTTTTCGGTGAC	0.527																																																	0													71.0	64.0	67.0					6																	26027418		2203	4300	6503	SO:0001589	frameshift_variant	0			X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"""Histones / Replication-dependent"""	4789	protein-coding gene	gene with protein product		602829	"""H4 histone family, member I"", ""histone 1, H4b"""	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.63delA	6.37:g.26027418delT	ENSP00000366581:p.Lys21fs		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Frame_Shift_Del	DEL	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.V22fs	ENST00000377364.3	37	c.63	CCDS4572.1	6																																																																																			HIST1H4B	-	superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4	ENSG00000124529		0.527	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4B	HGNC	protein_coding	OTTHUMT00000040079.2		0.00	95	0	T	NM_003544		26027418	-1	tier1		no_errors	ENST00000377364	ensembl	human	known	74_37	frame_shift_del	5.41	35	2	DEL	1.000	-
HIST1H2BC	8347	genome.wustl.edu	37	6	26124066	26124066	+	Nonsense_Mutation	SNP	G	G	A	rs375299991		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr6:26124066G>A	ENST00000314332.5	-	1	72	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	HIST1H2AC_ENST00000602637.1_5'Flank|HIST1H2AC_ENST00000377791.2_5'Flank|HIST1H2BC_ENST00000396984.1_Nonsense_Mutation_p.Q23*			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	23					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						TCTTTCTTCTGCGCTTTGGTC	0.532																																																	0								G	stop/GLN	0,4406		0,0,2203	152.0	135.0	141.0		67	5.8	1.0	6		141	1,8599		0,1,4299	no	stop-gained	HIST1H2BC	NM_003526.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		23/127	26124066	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596		"""Histones / Replication-dependent"""	4757	protein-coding gene	gene with protein product		602847	"""H2B histone family, member L"", ""histone 1, H2bc"""	H2BFL		9119399, 12408966	Standard	NM_003526		Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.67C>T	6.37:g.26124066G>A	ENSP00000321744:p.Gln23*		P02278|Q3B872|Q4VB69|Q93078|Q93080	Nonsense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.Q23*	ENST00000314332.5	37	c.67	CCDS4584.1	6	.	.	.	.	.	.	.	.	.	.	.	15.51	2.856374	0.51376	0.0	1.16E-4	ENSG00000180596	ENST00000314332;ENST00000396984	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.3155	0.94211	0.0:0.0:1.0:0.0	.	.	.	.	X	23	.	ENSP00000321744:Q23X	Q	-	1	0	HIST1H2BC	26232045	1.000000	0.71417	0.998000	0.56505	0.049000	0.14656	3.287000	0.51732	2.879000	0.98667	0.650000	0.86243	CAG	HIST1H2BC	-	superfamily_Histone-fold	ENSG00000180596		0.532	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BC	HGNC	protein_coding	OTTHUMT00000468022.1		0.00	113	0	G	NM_003526		26124066	-1			no_errors	ENST00000314332	ensembl	human	known	74_37	nonsense	6.12	46	3	SNP	0.999	A
HM13	81502	genome.wustl.edu	37	20	30154016	30154016	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr20:30154016G>A	ENST00000340852.5	+	11	1076	c.952G>A	c.(952-954)Gcc>Acc	p.A318T	HM13_ENST00000398174.3_Missense_Mutation_p.A318T|HM13-IT1_ENST00000421894.1_RNA|HM13_ENST00000376127.3_Missense_Mutation_p.A276T|HM13-AS1_ENST00000412178.1_RNA|HM13_ENST00000492709.1_3'UTR|HM13_ENST00000335574.5_Missense_Mutation_p.A318T	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	318					membrane protein proteolysis (GO:0033619)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CTCATAGCCTGCCCTCCTATA	0.627																																																	0													100.0	87.0	91.0					20																	30154016		2203	4300	6503	SO:0001583	missense	0			AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294			16435	protein-coding gene	gene with protein product	"""signal peptide peptidase beta"", ""presenilin-like protein 3"", ""intramembrane protease"", ""signal peptide peptidase like 1"""	607106				12077416, 14704149	Standard	NM_030789		Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000340852.5:c.952G>A	20.37:g.30154016G>A	ENSP00000343032:p.Ala318Thr		B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	Missense_Mutation	SNP	pfam_Peptidase_A22B_SPP,smart_Preselin/SPP	p.A318T	ENST00000340852.5	37	c.952	CCDS13182.1	20	.	.	.	.	.	.	.	.	.	.	G	31	5.099775	0.94197	.	.	ENSG00000101294	ENST00000335574;ENST00000340852;ENST00000398174;ENST00000376127	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.78585	0.4306	H	0.98333	4.205	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.99	D	0.87069	0.2158	10	0.87932	D	0	-18.9111	16.2225	0.82267	0.0:0.0:1.0:0.0	.	318;318;318	Q8TCT9;Q8TCT9-4;Q8TCT9-2	HM13_HUMAN;.;.	T	318;318;318;276	ENSP00000335294:A318T;ENSP00000343032:A318T;ENSP00000381237:A318T;ENSP00000365296:A276T	ENSP00000335294:A318T	A	+	1	0	HM13	29617677	1.000000	0.71417	0.999000	0.59377	0.688000	0.40055	9.306000	0.96204	2.513000	0.84729	0.462000	0.41574	GCC	HM13	-	pfam_Peptidase_A22B_SPP,smart_Preselin/SPP	ENSG00000101294		0.627	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	HM13	HGNC	protein_coding	OTTHUMT00000078527.2	-	0.00	89	0	G	NM_178580		30154016	+1	tier1	-	no_errors	ENST00000398174	ensembl	human	known	74_37	missense	36.07	38	22	SNP	1.000	A
HRNR	388697	genome.wustl.edu	37	1	152185648	152185648	+	Missense_Mutation	SNP	A	A	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:152185648A>C	ENST00000368801.2	-	3	8532	c.8457T>G	c.(8455-8457)caT>caG	p.H2819Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2819					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCCCCATCATGGTTACTTC	0.453																																																	0													77.0	79.0	79.0					1																	152185648		2203	4300	6503	SO:0001583	missense	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.8457T>G	1.37:g.152185648A>C	ENSP00000357791:p.His2819Gln		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.H2819Q	ENST00000368801.2	37	c.8457	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	A	8.752	0.921547	0.17982	.	.	ENSG00000197915	ENST00000368801	T	0.01918	4.56	4.56	4.56	0.56223	.	.	.	.	.	T	0.00666	0.0022	N	0.19112	0.55	0.09310	N	1	B	0.19331	0.035	B	0.04013	0.001	T	0.47849	-0.9085	9	0.21014	T	0.42	.	10.4848	0.44715	1.0:0.0:0.0:0.0	.	2819	Q86YZ3	HORN_HUMAN	Q	2819	ENSP00000357791:H2819Q	ENSP00000357791:H2819Q	H	-	3	2	HRNR	150452272	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	0.606000	0.24194	2.029000	0.59856	0.459000	0.35465	CAT	HRNR	-	NULL	ENSG00000197915		0.453	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1		0.00	117	0	A	XM_373868		152185648	-1			no_errors	ENST00000368801	ensembl	human	known	74_37	missense	6.10	77	5	SNP	0.003	C
HMCN1	83872	genome.wustl.edu	37	1	186113436	186113436	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:186113436G>T	ENST00000271588.4	+	90	14285	c.14056G>T	c.(14056-14058)Gaa>Taa	p.E4686*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.E4686*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4686	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGATGGAGCAGAAACACAGAT	0.403																																																	0													141.0	144.0	143.0					1																	186113436		2203	4300	6503	SO:0001587	stop_gained	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14056G>T	1.37:g.186113436G>T	ENSP00000271588:p.Glu4686*		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.E4686*	ENST00000271588.4	37	c.14056	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	55	24.799490	0.99962	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.72	5.72	0.89469	.	0.044474	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.8788	0.96888	0.0:0.0:1.0:0.0	.	.	.	.	X	4686	.	ENSP00000271588:E4686X	E	+	1	0	HMCN1	184380059	1.000000	0.71417	0.982000	0.44146	0.533000	0.34776	7.326000	0.79133	2.708000	0.92522	0.650000	0.86243	GAA	HMCN1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000143341		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0.00	99	0	G	NM_031935		186113436	+1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	nonsense	12.05	73	10	SNP	1.000	T
HSPA9	3313	genome.wustl.edu	37	5	137892472	137892472	+	Silent	SNP	A	A	G			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:137892472A>G	ENST00000297185.3	-	15	1937	c.1812T>C	c.(1810-1812)ccT>ccC	p.P604P	SNORD63_ENST00000411005.1_RNA|HSPA9_ENST00000501917.2_Intron	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	604					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCTCATCAGCAGGTAATTGGT	0.373																																																	0													126.0	119.0	121.0					5																	137892472		2203	4300	6503	SO:0001819	synonymous_variant	0			L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.1812T>C	5.37:g.137892472A>G			B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,pfam_Carb_kinase_FGGY_C,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK	p.P604	ENST00000297185.3	37	c.1812	CCDS4208.1	5																																																																																			HSPA9	-	pfam_Hsp_70_fam,tigrfam_Chaperone_DnaK	ENSG00000113013		0.373	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA9	HGNC	protein_coding	OTTHUMT00000251285.1	-	0.00	87	0	A	NM_004134		137892472	-1	tier1	-	no_errors	ENST00000297185	ensembl	human	known	74_37	silent	11.11	32	4	SNP	1.000	G
HTR3C	170572	genome.wustl.edu	37	3	183776319	183776319	+	Missense_Mutation	SNP	A	A	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr3:183776319A>C	ENST00000318351.1	+	6	698	c.664A>C	c.(664-666)Aag>Cag	p.K222Q		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	222					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	GGGCATCAACAAGGCCACCCC	0.542																																																	0													123.0	115.0	118.0					3																	183776319		2203	4300	6503	SO:0001583	missense	0			AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.664A>C	3.37:g.183776319A>C	ENSP00000322617:p.Lys222Gln		A2RRR5	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel	p.K222Q	ENST00000318351.1	37	c.664	CCDS3250.1	3	.	.	.	.	.	.	.	.	.	.	.	12.48	1.952070	0.34471	.	.	ENSG00000178084	ENST00000318351	T	0.79554	-1.28	5.26	2.83	0.33086	Neurotransmitter-gated ion-channel ligand-binding (3);	0.650981	0.16060	N	0.231544	T	0.72070	0.3415	L	0.40543	1.245	0.21064	N	0.999791	B	0.31519	0.327	B	0.39465	0.3	T	0.60193	-0.7311	10	0.33141	T	0.24	-15.2869	3.584	0.07963	0.6404:0.2258:0.1338:0.0	.	222	Q8WXA8	5HT3C_HUMAN	Q	222	ENSP00000322617:K222Q	ENSP00000322617:K222Q	K	+	1	0	HTR3C	185259013	0.448000	0.25681	0.837000	0.33122	0.994000	0.84299	1.464000	0.35288	0.428000	0.26173	0.533000	0.62120	AAG	HTR3C	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd	ENSG00000178084		0.542	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR3C	HGNC	protein_coding	OTTHUMT00000346296.1	-	0.00	104	0	A	NM_130770		183776319	+1	tier1	-	no_errors	ENST00000318351	ensembl	human	known	74_37	missense	23.93	89	28	SNP	0.876	C
HTRA1	5654	genome.wustl.edu	37	10	124249128	124249128	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:124249128A>G	ENST00000368984.3	+	3	891	c.763A>G	c.(763-765)Aaa>Gaa	p.K255E		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	255	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				CGCACTCATCAAAATTGACCA	0.522																																																	0													95.0	73.0	81.0					10																	124249128		2203	4300	6503	SO:0001583	missense	0			AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"""Serine peptidases / Serine peptidases"""	9476	protein-coding gene	gene with protein product		602194	"""protease, serine, 11 (IGF binding)"""	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.763A>G	10.37:g.124249128A>G	ENSP00000357980:p.Lys255Glu		D3DRE4|Q9UNS5	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,pfam_IGFBP-like,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.K255E	ENST00000368984.3	37	c.763	CCDS7630.1	10	.	.	.	.	.	.	.	.	.	.	A	15.88	2.963530	0.53507	.	.	ENSG00000166033	ENST00000368984;ENST00000435263	D	0.88277	-2.36	5.13	5.13	0.70059	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.049016	0.85682	D	0.000000	D	0.88945	0.6575	L	0.58101	1.795	0.80722	D	1	B	0.20671	0.047	B	0.33960	0.173	D	0.87364	0.2346	10	0.87932	D	0	-17.4698	14.9758	0.71269	1.0:0.0:0.0:0.0	.	255	Q92743	HTRA1_HUMAN	E	255;222	ENSP00000357980:K255E	ENSP00000357980:K255E	K	+	1	0	HTRA1	124239118	1.000000	0.71417	0.994000	0.49952	0.687000	0.40016	4.878000	0.63093	1.935000	0.56089	0.528000	0.53228	AAA	HTRA1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom	ENSG00000166033		0.522	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA1	HGNC	protein_coding	OTTHUMT00000128327.1	-	0.00	97	0	A	NM_002775		124249128	+1	tier1	-	no_errors	ENST00000368984	ensembl	human	known	74_37	missense	37.21	27	16	SNP	1.000	G
IFFO1	25900	genome.wustl.edu	37	12	6660125	6660125	+	Silent	SNP	A	A	G			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:6660125A>G	ENST00000396840.2	-	2	857	c.816T>C	c.(814-816)cgT>cgC	p.R272R	IFFO1_ENST00000436152.2_5'UTR|IFFO1_ENST00000336604.4_Silent_p.R272R|IFFO1_ENST00000465801.1_5'UTR|IFFO1_ENST00000356896.4_Silent_p.R272R			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	272						intermediate filament (GO:0005882)		p.D271fs*9(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GCTCATTTACACGGTCTTGCA	0.622																																																	1	Deletion - Frameshift(1)	ovary(1)											166.0	138.0	148.0					12																	6660125		2203	4300	6503	SO:0001819	synonymous_variant	0			AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.816T>C	12.37:g.6660125A>G			Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Silent	SNP	NULL	p.R272	ENST00000396840.2	37	c.816		12	.	.	.	.	.	.	.	.	.	.	A	10.75	1.438812	0.25900	.	.	ENSG00000010295	ENST00000416019	.	.	.	4.12	-5.37	0.02681	.	.	.	.	.	T	0.36690	0.0976	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39761	-0.9598	4	.	.	.	-6.736	2.3152	0.04197	0.272:0.0711:0.3365:0.3203	.	.	.	.	A	4	.	.	V	-	2	0	IFFO1	6530386	0.383000	0.25156	0.752000	0.31206	0.948000	0.59901	-0.527000	0.06200	-0.644000	0.05465	-0.464000	0.05259	GTG	IFFO1	-	NULL	ENSG00000010295		0.622	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	IFFO1	HGNC	protein_coding	OTTHUMT00000280428.1		0.00	49	0	A	NM_080730		6660125	-1			no_errors	ENST00000356896	ensembl	human	known	74_37	silent	7.50	37	3	SNP	0.989	G
INF2	64423	genome.wustl.edu	37	14	105172386	105172386	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr14:105172386C>T	ENST00000392634.4	+	6	828	c.716C>T	c.(715-717)gCc>gTc	p.A239V	INF2_ENST00000330634.7_Missense_Mutation_p.A239V	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	239	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CTGGAGGATGCCGACCTGCTG	0.667																																																	0													24.0	28.0	27.0					14																	105172386		2080	4195	6275	SO:0001583	missense	0			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.716C>T	14.37:g.105172386C>T	ENSP00000376410:p.Ala239Val		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom	p.A239V	ENST00000392634.4	37	c.716	CCDS9989.2	14	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288668	0.40494	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	D;D	0.87334	-2.24;-2.24	4.54	-0.214	0.13161	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	1.572440	0.03870	N	0.275505	T	0.80160	0.4572	L	0.41236	1.265	0.38208	D	0.940396	B;B	0.31769	0.291;0.339	B;B	0.31946	0.085;0.138	T	0.69800	-0.5047	10	0.46703	T	0.11	.	1.5167	0.02507	0.4406:0.1714:0.2616:0.1264	.	239;239	Q27J81-2;Q27J81	.;INF2_HUMAN	V	239	ENSP00000376406:A239V;ENSP00000376410:A239V	ENSP00000376406:A239V	A	+	2	0	INF2	104243431	0.126000	0.22350	0.034000	0.17996	0.946000	0.59487	0.656000	0.24948	0.110000	0.17919	0.462000	0.41574	GCC	INF2	-	pfam_FH3_dom,superfamily_ARM-type_fold	ENSG00000203485		0.667	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	HGNC	protein_coding	OTTHUMT00000074371.4		0.00	119	0	C	NM_022489		105172386	+1			no_errors	ENST00000392634	ensembl	human	known	74_37	missense	8.20	56	5	SNP	0.037	T
INHBB	3625	genome.wustl.edu	37	2	121106886	121106886	+	Silent	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:121106886C>T	ENST00000295228.3	+	2	706	c.660C>T	c.(658-660)gaC>gaT	p.D220D		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	220					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				AGAGGGTGGACCTCAAGCGCA	0.627																																																	0													109.0	107.0	108.0					2																	121106886		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"""Endogenous ligands"""	6067	protein-coding gene	gene with protein product		147390	"""inhibin, beta B (activin AB beta polypeptide)"""			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.660C>T	2.37:g.121106886C>T			Q53T31|Q8N1D3	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu	p.D220	ENST00000295228.3	37	c.660	CCDS2132.1	2																																																																																			INHBB	-	pfam_TGF-b_N	ENSG00000163083		0.627	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBB	HGNC	protein_coding	OTTHUMT00000254234.1	-	0.00	69	0	C			121106886	+1	tier1	-	no_errors	ENST00000295228	ensembl	human	known	74_37	silent	29.09	39	16	SNP	1.000	T
IPO5	3843	genome.wustl.edu	37	13	98670884	98670884	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr13:98670884T>A	ENST00000490680.1	+	23	2827	c.2762T>A	c.(2761-2763)gTc>gAc	p.V921D	IPO5_ENST00000539640.1_Missense_Mutation_p.V796D|IPO5_ENST00000261574.5_Missense_Mutation_p.V939D			O00410	IPO5_HUMAN	importin 5	921					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						AGCCCAGAAGTCAGGCAAGCA	0.438																																																	0													179.0	138.0	152.0					13																	98670884		2203	4300	6503	SO:0001583	missense	0			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.2762T>A	13.37:g.98670884T>A	ENSP00000418393:p.Val921Asp		B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N	p.V939D	ENST00000490680.1	37	c.2816		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.2|24.2	4.505617|4.505617	0.85282|0.85282	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000469360|ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	.|T;T;T;T	.|0.73152	.|-0.72;-0.72;-0.72;-0.72	5.82|5.82	4.65|4.65	0.58169|0.58169	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86151|0.86151	0.5864|0.5864	M|M	0.91038|0.91038	3.17|3.17	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	D|D	0.87940|0.87940	0.2716|0.2716	5|10	.|0.87932	.|D	.|0	-14.0128|-14.0128	11.558|11.558	0.50759|0.50759	0.0:0.0693:0.0:0.9306|0.0:0.0693:0.0:0.9306	.|.	.|939	.|O00410-3	.|.	T|D	923|939;921;921;796	.|ENSP00000261574:V939D;ENSP00000350219:V921D;ENSP00000418393:V921D;ENSP00000445126:V796D	.|ENSP00000261574:V939D	S|V	+|+	1|2	0|0	IPO5|IPO5	97468885|97468885	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.814000|7.814000	0.86154|0.86154	1.046000|1.046000	0.40249|0.40249	0.528000|0.528000	0.53228|0.53228	TCA|GTC	IPO5	-	pfam_HEAT,superfamily_ARM-type_fold	ENSG00000065150		0.438	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	IPO5	HGNC	protein_coding	OTTHUMT00000354655.1	-	0.00	126	0	T	NM_002271		98670884	+1	tier1	-	no_errors	ENST00000261574	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	A
ITGAV	3685	genome.wustl.edu	37	2	187529332	187529332	+	Silent	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:187529332G>T	ENST00000261023.3	+	20	2311	c.2037G>T	c.(2035-2037)ctG>ctT	p.L679L	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Silent_p.L643L|ITGAV_ENST00000433736.2_Silent_p.L633L	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	679					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	CCATTCCACTGCAGGCTGATT	0.433																																					Melanoma(58;108 1995 6081)												0													175.0	161.0	166.0					2																	187529332		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.2037G>T	2.37:g.187529332G>T			A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.L679	ENST00000261023.3	37	c.2037	CCDS2292.1	2																																																																																			ITGAV	-	pfam_Integrin_alpha-2	ENSG00000138448		0.433	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	HGNC	protein_coding	OTTHUMT00000255882.2		0.00	112	0	G	NM_002210		187529332	+1			no_errors	ENST00000261023	ensembl	human	known	74_37	silent	5.08	56	3	SNP	0.001	T
IQCA1	79781	genome.wustl.edu	37	2	237272501	237272501	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:237272501G>T	ENST00000409907.3	-	15	2065	c.1791C>A	c.(1789-1791)ttC>ttA	p.F597L	IQCA1_ENST00000431676.2_Missense_Mutation_p.F556L|IQCA1_ENST00000309507.5_Missense_Mutation_p.F594L	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	597							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						AGGACAAGTTGAAGAGGTTGG	0.493																																																	0													173.0	173.0	173.0					2																	237272501		1997	4167	6164	SO:0001583	missense	0			AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1791C>A	2.37:g.237272501G>T	ENSP00000387347:p.Phe597Leu		B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS	p.F597L	ENST00000409907.3	37	c.1791	CCDS46549.1	2	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879412	0.72294	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	D;D;D	0.87103	-2.21;-2.21;-2.21	4.36	3.45	0.39498	ATPase, AAA-type, core (1);	0.000000	0.64402	D	0.000003	D	0.90188	0.6933	L	0.58428	1.81	0.49213	D	0.999761	D;D;D	0.71674	0.993;0.995;0.998	D;D;D	0.73380	0.914;0.98;0.98	D	0.89201	0.3557	10	0.48119	T	0.1	.	9.684	0.40087	0.1681:0.0:0.8319:0.0	.	556;605;597	E7EWQ0;E9PH78;Q86XH1	.;.;IQCA1_HUMAN	L	597;605;594;556;594	ENSP00000387347:F597L;ENSP00000311951:F594L;ENSP00000407213:F556L	ENSP00000254653:F598L	F	-	3	2	IQCA1	236937240	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	3.798000	0.55522	2.128000	0.65567	0.561000	0.74099	TTC	IQCA1	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase	ENSG00000132321		0.493	IQCA1-001	KNOWN	basic|CCDS	protein_coding	IQCA1	HGNC	protein_coding	OTTHUMT00000329266.1	-	0.00	115	0	G	NM_024726		237272501	-1	tier1	-	no_errors	ENST00000409907	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T
KARS	3735	genome.wustl.edu	37	16	75665431	75665431	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:75665431C>T	ENST00000302445.3	-	9	1174	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K	KARS_ENST00000319410.5_Missense_Mutation_p.E407K|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	379					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	GCTTGGCCCTCTGGGCCATCT	0.522																																																	0													100.0	102.0	101.0					16																	75665431		2198	4300	6498	SO:0001583	missense	0			AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"""Aminoacyl tRNA synthetases / Class II"""	6215	protein-coding gene	gene with protein product	"""lysine tRNA ligase"""	601421	"""deafness, autosomal recessive 89"""	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.1135G>A	16.37:g.75665431C>T	ENSP00000303043:p.Glu379Lys		A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Lys-tRNA-synth_II_C,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Lys-tRNA-ligase_II	p.E407K	ENST00000302445.3	37	c.1219	CCDS10923.1	16	.	.	.	.	.	.	.	.	.	.	C	18.75	3.690768	0.68271	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	T;T	0.79554	-1.28;-1.28	5.91	4.95	0.65309	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.043652	0.85682	D	0.000000	T	0.81851	0.4910	M	0.76838	2.35	0.80722	D	1	P;P	0.40250	0.709;0.645	B;B	0.40038	0.207;0.317	T	0.82182	-0.0584	10	0.40728	T	0.16	-9.7055	15.8052	0.78501	0.0:0.8636:0.1364:0.0	.	407;379	Q15046-2;Q15046	.;SYK_HUMAN	K	407;379	ENSP00000325448:E407K;ENSP00000303043:E379K	ENSP00000303043:E379K	E	-	1	0	KARS	74222932	1.000000	0.71417	0.966000	0.40874	0.880000	0.50808	6.070000	0.71220	1.478000	0.48253	0.655000	0.94253	GAG	KARS	-	pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Lys-tRNA-ligase_II	ENSG00000065427		0.522	KARS-001	KNOWN	basic|CCDS	protein_coding	KARS	HGNC	protein_coding	OTTHUMT00000269023.1		0.00	39	0	C	NM_005548		75665431	-1			no_errors	ENST00000319410	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	T
JPH3	57338	genome.wustl.edu	37	16	87717865	87717865	+	Silent	SNP	G	G	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:87717865G>C	ENST00000284262.2	+	3	1520	c.1278G>C	c.(1276-1278)cgG>cgC	p.R426R	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	426					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TCCAGCACCGGGAAAACGGTG	0.642																																																	0													71.0	58.0	62.0					16																	87717865		2198	4300	6498	SO:0001819	synonymous_variant	0			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.1278G>C	16.37:g.87717865G>C			D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Silent	SNP	pirsf_Junctophilin,pfam_MORN,smart_MORN	p.R426	ENST00000284262.2	37	c.1278	CCDS10962.1	16																																																																																			JPH3	-	pirsf_Junctophilin	ENSG00000154118		0.642	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH3	HGNC	protein_coding	OTTHUMT00000269108.2		0.00	98	0	G			87717865	+1			no_errors	ENST00000284262	ensembl	human	known	74_37	silent	6.67	28	2	SNP	0.998	C
RABGEF1	27342	genome.wustl.edu	37	7	66236988	66236988	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr7:66236988C>G	ENST00000284957.5	+	2	179	c.102C>G	c.(100-102)ttC>ttG	p.F34L	KCTD7_ENST00000510829.2_Missense_Mutation_p.F34L|KCTD7_ENST00000380828.2_Missense_Mutation_p.F34L|RABGEF1_ENST00000439720.2_Missense_Mutation_p.F47L|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000437078.2_Missense_Mutation_p.F48L|RABGEF1_ENST00000450873.2_Missense_Mutation_p.F34L|KCTD7_ENST00000451741.2_Missense_Mutation_p.F34L			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	172					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						GGCAGGGTTTCTGCTCCAAGT	0.542																																																	0													75.0	72.0	73.0					7																	66236988		2203	4299	6502	SO:0001583	missense	0			AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.102C>G	7.37:g.66236988C>G	ENSP00000284957:p.Phe34Leu		B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	pfam_VPS9,pfam_Znf_A20,smart_Znf_A20,smart_VPS9_subgr,pfscan_VPS9,pfscan_Znf_A20	p.F34L	ENST00000284957.5	37	c.102	CCDS5535.1	7	.	.	.	.	.	.	.	.	.	.	.	13.70	2.316159	0.40996	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000442563;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.28	4.4	0.53042	.	0.105155	0.64402	D	0.000003	T	0.09468	0.0233	N	0.00729	-1.24	0.42181	D	0.99168	B	0.09022	0.002	B	0.12156	0.007	T	0.09314	-1.0680	10	0.31617	T	0.26	-13.9997	8.6534	0.34049	0.0:0.7634:0.0:0.2366	.	48	B4DZM7	.	L	39;34;34;34;34;34;34;34;47;48	ENSP00000370208:F34L;ENSP00000421124:F34L;ENSP00000398177:F34L;ENSP00000284957:F34L;ENSP00000415815:F34L;ENSP00000415503:F34L;ENSP00000403429:F47L;ENSP00000390480:F48L	ENSP00000370207:F39L	F	+	3	2	RABGEF1;KCTD7	65874423	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.132000	0.42083	1.232000	0.43678	0.650000	0.86243	TTC	KCTD7	-	pfam_Znf_A20,smart_Znf_A20,pfscan_Znf_A20	ENSG00000243335		0.542	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD7	HGNC	protein_coding	OTTHUMT00000251737.3	-	0.00	125	0	C	NM_014504		66236988	+1	tier1	-	no_errors	ENST00000380828	ensembl	human	known	74_37	missense	8.51	86	8	SNP	1.000	G
KDM1B	221656	genome.wustl.edu	37	6	18188156	18188156	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr6:18188156G>A	ENST00000388870.2	+	9	948	c.707G>A	c.(706-708)aGc>aAc	p.S236N	KDM1B_ENST00000397244.1_Intron|KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000297792.5_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	236					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TCCTGCACCAGCACAAACCGC	0.617																																																	0																																										SO:0001583	missense	0			AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000388870.2:c.707G>A	6.37:g.18188156G>A	ENSP00000373522:p.Ser236Asn		A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_Znf_CW,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM,pfscan_Znf_CW	p.S236N	ENST00000388870.2	37	c.707		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.90|16.90	3.250475|3.250475	0.59212|0.59212	.|.	.|.	ENSG00000165097|ENSG00000165097	ENST00000449850|ENST00000388870;ENST00000388869	.|T	.|0.31247	.|1.5	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|2.338330	.|0.01475	.|N	.|0.016453	T|T	0.23410|0.23410	0.0566|0.0566	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.34462	.|0.454	.|B	.|0.35240	.|0.198	T|T	0.34329|0.34329	-0.9833|-0.9833	4|9	.|0.38643	.|T	.|0.18	-3.4417|-3.4417	20.1001|20.1001	0.97870|0.97870	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|236	.|Q8NB78	.|KDM1B_HUMAN	T|N	53|236	.|ENSP00000373522:S236N	.|ENSP00000373521:S236N	A|S	+|+	1|2	0|0	KDM1B|KDM1B	18296135|18296135	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.876000|0.876000	0.50452|0.50452	6.808000|6.808000	0.75206|0.75206	2.760000|2.760000	0.94817|0.94817	0.655000|0.655000	0.94253|0.94253	GCA|AGC	KDM1B	-	NULL	ENSG00000165097		0.617	KDM1B-201	KNOWN	basic|appris_principal	protein_coding	KDM1B	HGNC	protein_coding		-	0.00	69	0	G	NM_153042		18188156	+1	tier1	-	no_errors	ENST00000388870	ensembl	human	known	74_37	missense	10.64	42	5	SNP	1.000	A
KIAA1598	57698	genome.wustl.edu	37	10	118708448	118708448	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:118708448C>T	ENST00000355371.4	-	7	1092	c.595G>A	c.(595-597)Gtc>Atc	p.V199I	KIAA1598_ENST00000392903.2_Missense_Mutation_p.V199I|KIAA1598_ENST00000260777.10_Missense_Mutation_p.V199I|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392901.4_Missense_Mutation_p.V139I	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	199					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TTTTCTAAGACTTTTCTCTGT	0.313																																																	0													88.0	91.0	90.0					10																	118708448		2195	4298	6493	SO:0001583	missense	0			BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.595G>A	10.37:g.118708448C>T	ENSP00000347532:p.Val199Ile		A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Missense_Mutation	SNP	superfamily_Adenylate_cyclase-assoc_CAP_N	p.V199I	ENST00000355371.4	37	c.595	CCDS44482.1	10	.	.	.	.	.	.	.	.	.	.	C	13.60	2.285097	0.40394	.	.	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371;ENST00000392901	T;T;T;T	0.21734	3.12;2.82;3.12;1.99	5.75	4.82	0.62117	.	0.203897	0.41605	D	0.000845	T	0.21145	0.0509	L	0.50333	1.59	0.30294	N	0.790122	B;B;B	0.22683	0.044;0.03;0.073	B;B;B	0.26094	0.066;0.014;0.053	T	0.10109	-1.0644	10	0.38643	T	0.18	-3.7309	10.8558	0.46798	0.1403:0.6277:0.232:0.0	.	199;199;169	A0MZ66;A0MZ66-2;A0MZ66-6	SHOT1_HUMAN;.;.	I	199;199;199;139	ENSP00000376636:V199I;ENSP00000260777:V199I;ENSP00000347532:V199I;ENSP00000376635:V139I	ENSP00000260777:V199I	V	-	1	0	KIAA1598	118698438	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.647000	0.24812	1.343000	0.45638	0.655000	0.94253	GTC	KIAA1598	-	NULL	ENSG00000187164		0.313	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1598	HGNC	protein_coding		-	0.00	87	0	C	NM_018330		118708448	-1	tier1	-	no_errors	ENST00000392903	ensembl	human	known	74_37	missense	11.11	48	6	SNP	1.000	T
KLHL18	23276	genome.wustl.edu	37	3	47384290	47384290	+	Silent	SNP	C	C	T	rs147202777		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr3:47384290C>T	ENST00000232766.5	+	9	1328	c.1308C>T	c.(1306-1308)ggC>ggT	p.G436G	KLHL18_ENST00000455924.2_Silent_p.G324G	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	436										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		ATGTGTCAGGCGGCCATGATG	0.478																																																	0								C		0,4406		0,0,2203	206.0	178.0	188.0		1308	-1.4	1.0	3	dbSNP_134	188	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KLHL18	NM_025010.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		436/575	47384290	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.1308C>T	3.37:g.47384290C>T			A8K612|Q7Z3E8|Q8N125	Silent	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.G436	ENST00000232766.5	37	c.1308	CCDS33749.1	3																																																																																			KLHL18	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000114648		0.478	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL18	HGNC	protein_coding	OTTHUMT00000344493.1	-	0.00	101	0	C	NM_025010		47384290	+1	tier1	rs147202777	no_errors	ENST00000232766	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.966	T
KLHL3	26249	genome.wustl.edu	37	5	137013137	137013137	+	Intron	DEL	A	A	-			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:137013137delA	ENST00000309755.4	-	6	1080				KLHL3_ENST00000394937.3_Intron|KLHL3_ENST00000541417.1_Intron|KLHL3_ENST00000508657.1_Intron|KLHL3_ENST00000506491.1_Intron	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3						distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		actccatctcaaaaaaaaaga	0.527																																																	0																																										SO:0001627	intron_variant	0			AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.636+96T>-	5.37:g.137013137delA			B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	RNA	DEL	-	NULL	ENST00000309755.4	37	NULL	CCDS4192.1	5																																																																																			KLHL3	-	-	ENSG00000146021		0.527	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL3	HGNC	protein_coding	OTTHUMT00000251220.2		0.00	34	0	A			137013137	-1	tier1		no_errors	ENST00000510529	ensembl	human	known	74_37	rna	12.00	22	3	DEL	0.002	-
KLRD1	3824	genome.wustl.edu	37	12	10464159	10464159	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:10464159A>T	ENST00000381907.4	+	5	462	c.260A>T	c.(259-261)cAt>cTt	p.H87L	KLRD1_ENST00000381908.3_Missense_Mutation_p.H87L|KLRD1_ENST00000543777.1_Missense_Mutation_p.H66L|KLRD1_ENST00000543420.1_Missense_Mutation_p.H87L|KLRD1_ENST00000350274.5_Missense_Mutation_p.H56L|KLRD1_ENST00000336164.4_Missense_Mutation_p.H87L|KLRD1_ENST00000538997.1_3'UTR	NM_001114396.1	NP_001107868	Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D, member 1	87	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						GAAAGTCGGCATCTCTGTGCT	0.428																																																	0													101.0	91.0	95.0					12																	10464159		2203	4300	6503	SO:0001583	missense	0			U30610	CCDS8621.1, CCDS8622.1	12p13	2009-12-03						"""Killer cell lectin-like receptors"", ""CD molecules"""	6378	protein-coding gene	gene with protein product		602894		CD94		7589107	Standard	NM_002262		Approved		uc001qxx.4	Q13241		ENST00000381907.4:c.260A>T	12.37:g.10464159A>T	ENSP00000371332:p.His87Leu		O43321|O43773|Q9UBE3|Q9UEQ0	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.H87L	ENST00000381907.4	37	c.260	CCDS8621.1	12	.	.	.	.	.	.	.	.	.	.	A	12.77	2.036713	0.35893	.	.	ENSG00000134539	ENST00000544747;ENST00000381907;ENST00000381908;ENST00000336164;ENST00000350274;ENST00000543420;ENST00000543777	T;T;T;T;T;T;T	0.43294	0.95;2.41;0.95;2.41;0.95;0.95;2.41	5.77	-1.64	0.08318	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.450310	0.03933	N	0.285687	T	0.19805	0.0476	N	0.11927	0.2	0.09310	N	1	B;B;B;B	0.19817	0.018;0.039;0.018;0.023	B;B;B;B	0.17722	0.011;0.011;0.011;0.019	T	0.09684	-1.0663	10	0.11485	T	0.65	.	1.725	0.02920	0.3268:0.3374:0.0811:0.2547	.	66;87;56;87	F6WZH4;Q13241-2;Q13241-3;Q13241	.;.;.;KLRD1_HUMAN	L	56;87;87;87;56;87;66	ENSP00000438669:H56L;ENSP00000371332:H87L;ENSP00000371333:H87L;ENSP00000338130:H87L;ENSP00000310929:H56L;ENSP00000441074:H87L;ENSP00000443584:H66L	ENSP00000338130:H87L	H	+	2	0	KLRD1	10355426	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.391000	0.20784	-0.052000	0.13311	-0.327000	0.08410	CAT	KLRD1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000134539		0.428	KLRD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLRD1	HGNC	protein_coding	OTTHUMT00000399684.2	-	0.00	93	0	A	NM_002262		10464159	+1	tier1	-	no_errors	ENST00000381908	ensembl	human	known	74_37	missense	33.96	35	18	SNP	0.000	T
KMT2D	8085	genome.wustl.edu	37	12	49432030	49432030	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:49432030delG	ENST00000301067.7	-	34	9108	c.9109delC	c.(9109-9111)cacfs	p.H3037fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3037					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCATCCAAGTGGGGGTCATTG	0.512																																																	0													99.0	100.0	100.0					12																	49432030		2027	4191	6218	SO:0001589	frameshift_variant	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.9109delC	12.37:g.49432030delG	ENSP00000301067:p.His3037fs		O14687	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.H3037fs	ENST00000301067.7	37	c.9109	CCDS44873.1	12																																																																																			KMT2D	-	NULL	ENSG00000167548		0.512	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2		0.00	32	0	G			49432030	-1	tier1		no_errors	ENST00000301067	ensembl	human	known	74_37	frame_shift_del	36.36	14	8	DEL	1.000	-
KRTAP4-9	100132386	genome.wustl.edu	37	17	39261661	39261661	+	Silent	SNP	C	C	G			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:39261661C>G	ENST00000391415.1	+	1	78	c.21C>G	c.(19-21)ggC>ggG	p.G7G		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	7					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CCTGTTGTGGCTCCGTGTGCT	0.612																																																	0													13.0	16.0	15.0					17																	39261661		692	1586	2278	SO:0001819	synonymous_variant	0			AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.21C>G	17.37:g.39261661C>G				Silent	SNP	pfam_Keratin-assoc	p.G7	ENST00000391415.1	37	c.21	CCDS54124.1	17																																																																																			KRTAP4-9	-	pfam_Keratin-assoc	ENSG00000212722		0.612	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-9	HGNC	protein_coding	OTTHUMT00000257688.1	-	0.00	366	0	C	NM_001146041		39261661	+1	tier1	-	no_errors	ENST00000391415	ensembl	human	known	74_37	silent	44.77	132	107	SNP	0.972	G
KRTAP5-9	3846	genome.wustl.edu	37	11	71260187	71260187	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr11:71260187C>G	ENST00000528743.2	+	1	722	c.484C>G	c.(484-486)Cct>Gct	p.P162A		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	162	8 X 4 AA repeats of C-C-X-P.				epidermis development (GO:0008544)	keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						ATGCTGTGTCCCTGTGTGCTA	0.567																																																	0													107.0	109.0	108.0					11																	71260187		2200	4293	6493	SO:0001583	missense	0			AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"""Keratin associated proteins"""	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.484C>G	11.37:g.71260187C>G	ENSP00000431443:p.Pro162Ala		Q14564|Q3MIP8	Missense_Mutation	SNP	NULL	p.P162A	ENST00000528743.2	37	c.484	CCDS53677.1	11	.	.	.	.	.	.	.	.	.	.	N	9.727	1.161194	0.21538	.	.	ENSG00000254997	ENST00000528743	T	0.03860	3.78	1.69	1.69	0.24217	.	.	.	.	.	T	0.09774	0.0240	M	0.92268	3.29	0.09310	N	1	P	0.43701	0.815	B	0.37422	0.249	T	0.28650	-1.0037	9	0.72032	D	0.01	.	4.1276	0.10134	0.0:0.7832:0.0:0.2168	.	162	P26371	KRA59_HUMAN	A	162	ENSP00000431443:P162A	ENSP00000431443:P162A	P	+	1	0	KRTAP5-9	70937835	0.343000	0.24818	0.091000	0.20842	0.265000	0.26407	0.085000	0.14912	1.234000	0.43709	0.393000	0.25936	CCT	KRTAP5-9	-	NULL	ENSG00000254997		0.567	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-9	HGNC	protein_coding	OTTHUMT00000393901.2	-	0.00	144	0	C			71260187	+1	tier1	-	no_errors	ENST00000528743	ensembl	human	known	74_37	missense	11.50	100	13	SNP	0.349	G
LAMTOR1	55004	genome.wustl.edu	37	11	71810295	71810295	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr11:71810295T>C	ENST00000278671.5	-	2	212	c.50A>G	c.(49-51)gAg>gGg	p.E17G	LAMTOR1_ENST00000535107.1_Missense_Mutation_p.E17G|LRTOMT_ENST00000435085.1_Intron|LAMTOR1_ENST00000539797.1_5'UTR|LAMTOR1_ENST00000545249.1_Missense_Mutation_p.E17G|LRTOMT_ENST00000307198.7_Intron|LRTOMT_ENST00000419228.1_Intron|LRTOMT_ENST00000439209.1_Intron|LAMTOR1_ENST00000538404.1_Missense_Mutation_p.E17G	NM_017907.2	NP_060377.1	Q6IAA8	LTOR1_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 1	17					cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|cholesterol homeostasis (GO:0042632)|endosome localization (GO:0032439)|endosome organization (GO:0007032)|lysosome localization (GO:0032418)|lysosome organization (GO:0007040)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of TOR signaling (GO:0032008)|regulation of cholesterol efflux (GO:0010874)|regulation of cholesterol esterification (GO:0010872)|regulation of cholesterol import (GO:0060620)|regulation of receptor recycling (GO:0001919)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|Ragulator complex (GO:0071986)				cervix(1)	1						CTTCCGCTCCTCTCGGTCCTA	0.597																																																	0													58.0	59.0	58.0					11																	71810295		2200	4293	6493	SO:0001583	missense	0			AK000632	CCDS8209.1	11q13.4	2011-05-18	2011-02-15	2011-02-15	ENSG00000149357	ENSG00000149357			26068	protein-coding gene	gene with protein product	"""p27kip1 releasing factor from RhoA"", ""protein associated with DRMs and endosomes"""	613510	"""chromosome 11 open reading frame 59"""	C11orf59		12358155	Standard	NM_017907		Approved	FLJ20625, p18, p27RF-Rho, Pdro, Ragulator1	uc001ort.3	Q6IAA8	OTTHUMG00000167869	ENST00000278671.5:c.50A>G	11.37:g.71810295T>C	ENSP00000278671:p.Glu17Gly		Q8WZ09|Q9NWT0	Missense_Mutation	SNP	NULL	p.E17G	ENST00000278671.5	37	c.50	CCDS8209.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.59|14.59	2.581679|2.581679	0.46006|0.46006	.|.	.|.	ENSG00000149357|ENSG00000149357	ENST00000545249;ENST00000535107;ENST00000278671;ENST00000538404|ENST00000544594	T;T;T;T|.	0.74209|.	-0.82;-0.82;-0.82;-0.82|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.235423|.	0.42682|.	D|.	0.000672|.	T|T	0.41096|0.41096	0.1144|0.1144	N|N	0.16478|0.16478	0.41|0.41	0.51482|0.51482	D|D	0.999929|0.999929	B|.	0.02656|.	0.0|.	B|.	0.06405|.	0.002|.	T|T	0.33369|0.33369	-0.9871|-0.9871	10|5	0.51188|.	T|.	0.08|.	.|.	10.1653|10.1653	0.42877|0.42877	0.0:0.0749:0.0:0.9251|0.0:0.0749:0.0:0.9251	.|.	17|.	Q6IAA8|.	LTOR1_HUMAN|.	G|G	17|4	ENSP00000440738:E17G;ENSP00000445170:E17G;ENSP00000278671:E17G;ENSP00000439011:E17G|.	ENSP00000278671:E17G|.	E|R	-|-	2|1	0|2	LAMTOR1|LAMTOR1	71487943|71487943	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.750000|0.750000	0.42670|0.42670	5.627000|5.627000	0.67784|0.67784	2.206000|2.206000	0.71126|0.71126	0.533000|0.533000	0.62120|0.62120	GAG|AGG	LAMTOR1	-	NULL	ENSG00000149357		0.597	LAMTOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMTOR1	HGNC	protein_coding	OTTHUMT00000396733.1	-	0.00	56	0	T	NM_017907		71810295	-1	tier1	-	no_errors	ENST00000278671	ensembl	human	known	74_37	missense	40.43	28	19	SNP	1.000	C
LDB3	11155	genome.wustl.edu	37	10	88469744	88469744	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:88469744G>A	ENST00000361373.4	+	8	1189	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T	LDB3_ENST00000429277.2_Missense_Mutation_p.A395T|LDB3_ENST00000352360.5_Missense_Mutation_p.A133T|LDB3_ENST00000263066.6_Missense_Mutation_p.A280T|LDB3_ENST00000458213.2_Missense_Mutation_p.A280T	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GGGCCCCGCCGCCCCTGCACC	0.677																																																	0													21.0	24.0	23.0					10																	88469744		2201	4294	6495	SO:0001583	missense	0			AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.1168G>A	10.37:g.88469744G>A	ENSP00000355296:p.Ala390Thr			Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.A395T	ENST00000361373.4	37	c.1183	CCDS7377.1	10	.	.	.	.	.	.	.	.	.	.	G	6.058	0.378980	0.11466	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000352360;ENST00000263066;ENST00000361373	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	5.52	4.61	0.57282	.	0.261694	0.20350	N	0.094067	T	0.73009	0.3532	L	0.31664	0.95	0.43896	D	0.996524	B;B;B;B;B	0.16396	0.004;0.017;0.003;0.004;0.001	B;B;B;B;B	0.12156	0.001;0.007;0.002;0.002;0.001	T	0.63453	-0.6634	10	0.17832	T	0.49	.	5.8963	0.18941	0.0754:0.1344:0.6514:0.1387	.	395;327;133;390;280	B4E3K3;F5H0C2;O75112-3;O75112;O75112-2	.;.;.;LDB3_HUMAN;.	T	327;395;280;133;280;390	ENSP00000401437:A395T;ENSP00000409148:A280T;ENSP00000263067:A133T;ENSP00000263066:A280T;ENSP00000355296:A390T	ENSP00000263066:A280T	A	+	1	0	LDB3	88459724	0.318000	0.24598	0.446000	0.26920	0.524000	0.34500	0.439000	0.21575	1.337000	0.45525	0.561000	0.74099	GCC	LDB3	-	NULL	ENSG00000122367		0.677	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LDB3	HGNC	protein_coding	OTTHUMT00000049160.2	-	0.00	104	0	G			88469744	+1	tier1	-	no_errors	ENST00000429277	ensembl	human	known	74_37	missense	46.15	27	24	SNP	0.668	A
LMO4	8543	genome.wustl.edu	37	1	87810542	87810542	+	3'UTR	SNP	A	A	G			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:87810542A>G	ENST00000370544.5	+	0	1341				LMO4_ENST00000489303.1_3'UTR|LMO4_ENST00000370542.1_3'UTR	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4						negative regulation of protein complex assembly (GO:0031333)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell activation (GO:0050865)|regulation of cell fate specification (GO:0042659)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron differentiation (GO:0021522)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)|ventral spinal cord interneuron differentiation (GO:0021514)|ventricular septum development (GO:0003281)	transcription factor complex (GO:0005667)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		GGTGGATCCCATGTGTCTTCA	0.463																																																	0													177.0	134.0	147.0					1																	87810542		692	1591	2283	SO:0001624	3_prime_UTR_variant	0			U24576	CCDS713.1	1p22.3	2008-02-05			ENSG00000143013	ENSG00000143013			6644	protein-coding gene	gene with protein product		603129					Standard	NM_006769		Approved		uc001dmi.3	P61968	OTTHUMG00000010248	ENST00000370544.5:c.*63A>G	1.37:g.87810542A>G			D3DT23|O00158|O88894	RNA	SNP	-	NULL	ENST00000370544.5	37	NULL	CCDS713.1	1																																																																																			LMO4	-	-	ENSG00000143013		0.463	LMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMO4	HGNC	protein_coding	OTTHUMT00000028264.2	-	0.00	71	0	A	NM_006769		87810542	+1	tier1	-	no_errors	ENST00000489303	ensembl	human	known	74_37	rna	46.67	16	14	SNP	0.972	G
LINC01119	100134259	genome.wustl.edu	37	2	47083042	47083042	+	Intron	DEL	A	A	-	rs376931136|rs3768718|rs371493067|rs200683836	byFrequency	TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:47083042delA	ENST00000422294.1	+	2	216				AC016722.2_ENST00000468141.1_Intron|AC016722.3_ENST00000453936.1_RNA																							gtatatatatatattttttta	0.438													|||unknown(STR2?)	1280	0.255591	0.3268	0.2536	5008	,	,		9690	0.1369		0.2594	False		,,,				2504	0.2791																0																																										SO:0001627	intron_variant	0																														ENST00000422294.1:c.89-20A>-	2.37:g.47083042delA				RNA	DEL	-	NULL	ENST00000422294.1	37	NULL		2																																																																																			AC016722.2	-	-	ENSG00000239332		0.438	AC016722.2-004	PUTATIVE	mRNA_end_NF|cds_end_NF|basic|appris_principal	protein_coding	LOC100134259	Clone_based_vega_gene	protein_coding	OTTHUMT00000329426.1		0.00	56	0	A			47083042	+1	tier1		no_errors	ENST00000495449	ensembl	human	known	74_37	rna	27.91	31	12	DEL	0.001	-
RP11-435B5.5	0	genome.wustl.edu	37	1	143378099	143378099	+	lincRNA	SNP	T	T	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:143378099T>C	ENST00000428624.1	+	0	819				RP11-435B5.3_ENST00000430699.1_lincRNA|RP11-435B5.4_ENST00000423249.1_lincRNA																							CAATGAAAAATGACAACCTGG	0.303																																																	0																																												0																															1.37:g.143378099T>C				RNA	SNP	-	NULL	ENST00000428624.1	37	NULL		1																																																																																			RP11-435B5.5	-	-	ENSG00000238261		0.303	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	LOC101927345	Clone_based_vega_gene	lincRNA	OTTHUMT00000037971.1	-	0.00	176	0	T			143378099	+1	tier1	-	no_errors	ENST00000428624	ensembl	human	known	74_37	rna	5.81	81	5	SNP	0.159	C
CHD3	1107	genome.wustl.edu	37	17	7818793	7818793	+	IGR	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:7818793G>T	ENST00000330494.7	+	0	7328				AC025335.1_ENST00000324348.7_RNA	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3						centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GCCCCCGCGAGGCTGCAGCTC	0.582																																																	0																																										SO:0001628	intergenic_variant	0			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427		17.37:g.7818793G>T			D3DTQ9|E9PG89|Q9Y4I0	RNA	SNP	-	NULL	ENST00000330494.7	37	NULL	CCDS32554.1	17																																																																																			AC025335.1	-	-	ENSG00000179859		0.582	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LOC284023	Clone_based_vega_gene	protein_coding	OTTHUMT00000318050.1	-	0.00	56	0	G	NM_001005273		7818793	-1	tier1	-	no_errors	ENST00000324348	ensembl	human	known	74_37	rna	60.00	6	9	SNP	0.027	T
LRRC9	341883	genome.wustl.edu	37	14	60494606	60494606	+	Missense_Mutation	SNP	T	T	A	rs577421017		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr14:60494606T>A	ENST00000445360.1	+	28	3912	c.3708T>A	c.(3706-3708)aaT>aaA	p.N1236K	RP11-16B13.1_ENST00000554123.1_RNA|RP11-16B13.1_ENST00000555432.1_RNA			Q6ZRR7	LRRC9_HUMAN	leucine rich repeat containing 9	1236																	TTTTAGGTAATGAAATCAGCC	0.348																																																	0																																										SO:0001583	missense	0			AK128037		14q23.1	2013-01-29	2003-11-19		ENSG00000131951	ENSG00000131951			19848	other	unknown			"""leucine-rich repeat-containing 9"""				Standard	NR_075071		Approved	FLJ46156	uc001xep.1	Q6ZRR7	OTTHUMG00000028948	ENST00000445360.1:c.3708T>A	14.37:g.60494606T>A	ENSP00000454748:p.Asn1236Lys			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.N1236K	ENST00000445360.1	37	c.3708		14																																																																																			LRRC9	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000131951		0.348	LRRC9-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	LRRC9	HGNC	protein_coding	OTTHUMT00000072281.3	-	0.00	90	0	T			60494606	+1	tier1	-	no_errors	ENST00000445360	ensembl	human	novel	74_37	missense	25.00	45	15	SNP	1.000	A
LRRFIP2	9209	genome.wustl.edu	37	3	37154454	37154454	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr3:37154454G>T	ENST00000336686.4	-	8	470	c.390C>A	c.(388-390)caC>caA	p.H130Q	LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.H99Q|LRRFIP2_ENST00000421307.1_Missense_Mutation_p.H130Q|LRRFIP2_ENST00000354379.4_Intron			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	130	DVL3-binding.|Ser-rich.				Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TTCCATGAGAGTGACTGTAAG	0.323																																																	1	Whole gene deletion(1)	ovary(1)											119.0	123.0	122.0					3																	37154454		2203	4300	6503	SO:0001583	missense	0			AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.390C>A	3.37:g.37154454G>T	ENSP00000338727:p.His130Gln		A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Missense_Mutation	SNP	pfam_Leu-rich_rep_flightless-int_pr,superfamily_bHLH_dom,superfamily_Prefoldin	p.H130Q	ENST00000336686.4	37	c.390	CCDS2664.1	3	.	.	.	.	.	.	.	.	.	.	G	8.184	0.794406	0.16327	.	.	ENSG00000093167	ENST00000421307;ENST00000336686;ENST00000396428	T;T;T	0.40756	1.05;1.05;1.02	5.24	4.35	0.52113	.	0.691598	0.13751	N	0.365265	T	0.22627	0.0546	N	0.14661	0.345	0.22017	N	0.99942	B;B	0.14438	0.01;0.01	B;B	0.19666	0.018;0.026	T	0.12785	-1.0534	10	0.31617	T	0.26	-5.3963	2.6899	0.05118	0.1497:0.1555:0.5339:0.1609	.	99;130	A8MXR0;Q9Y608	.;LRRF2_HUMAN	Q	130;130;99	ENSP00000392217:H130Q;ENSP00000338727:H130Q;ENSP00000379705:H99Q	ENSP00000338727:H130Q	H	-	3	2	LRRFIP2	37129458	0.997000	0.39634	0.242000	0.24170	0.884000	0.51177	0.224000	0.17738	1.303000	0.44873	0.467000	0.42956	CAC	LRRFIP2	-	NULL	ENSG00000093167		0.323	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	LRRFIP2	HGNC	protein_coding	OTTHUMT00000253335.3		0.00	52	0	G	NM_006309		37154454	-1			no_errors	ENST00000336686	ensembl	human	known	74_37	missense	12.00	22	3	SNP	0.965	T
LRRTM1	347730	genome.wustl.edu	37	2	80530054	80530054	+	Silent	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:80530054G>T	ENST00000295057.3	-	2	1547	c.891C>A	c.(889-891)ccC>ccA	p.P297P	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.P297P|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	297					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.P297P(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TGAGGATCCGGGGCTCGATGT	0.622										HNSCC(69;0.2)																																							2	Substitution - coding silent(2)	lung(2)											56.0	55.0	55.0					2																	80530054		2203	4300	6503	SO:0001819	synonymous_variant	0			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.891C>A	2.37:g.80530054G>T			A8K397|D6W5K1|Q96DN1	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.P297	ENST00000295057.3	37	c.891	CCDS1966.1	2																																																																																			LRRTM1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000162951		0.622	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM1	HGNC	protein_coding	OTTHUMT00000313614.1		0.00	40	0	G	NM_178839		80530054	-1			no_errors	ENST00000295057	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.926	T
LY75	4065	genome.wustl.edu	37	2	160661610	160661610	+	Missense_Mutation	SNP	C	C	T	rs34034503	byFrequency	TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:160661610C>T	ENST00000263636.4	-	35	5141	c.5114G>A	c.(5113-5115)cGa>cAa	p.R1705Q	LY75_ENST00000553424.1_Intron|LY75-CD302_ENST00000505052.1_Intron|LY75_ENST00000554112.1_Intron|LY75-CD302_ENST00000504764.1_Intron	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1705					endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTGTGCATATCGAACTGATGA	0.398																																																	0													88.0	84.0	85.0					2																	160661610		2203	4300	6503	SO:0001583	missense	0			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.5114G>A	2.37:g.160661610C>T	ENSP00000263636:p.Arg1705Gln		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.R1705Q	ENST00000263636.4	37	c.5114	CCDS2211.1	2	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077173	0.36662	.	.	ENSG00000054219	ENST00000263636	T	0.10668	2.85	5.66	4.79	0.61399	.	0.709223	0.10881	U	0.623853	T	0.09686	0.0238	N	0.20986	0.625	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.09907	-1.0653	10	0.59425	D	0.04	.	12.0611	0.53562	0.0:0.919:0.0:0.081	.	1705	O60449	LY75_HUMAN	Q	1705	ENSP00000263636:R1705Q	ENSP00000263636:R1705Q	R	-	2	0	LY75	160369856	0.984000	0.35163	1.000000	0.80357	0.180000	0.23129	2.063000	0.41423	1.418000	0.47098	-0.137000	0.14449	CGA	LY75	-	NULL	ENSG00000054219		0.398	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1		0.00	70	0	C			160661610	-1			no_errors	ENST00000263636	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T
MAP2	4133	genome.wustl.edu	37	2	210560091	210560091	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:210560091G>T	ENST00000360351.4	+	7	3703	c.3197G>T	c.(3196-3198)aGg>aTg	p.R1066M	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.R1062M|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1066					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GATGATAGAAGGGCAACAGAG	0.473																																					Pancreas(27;423 979 28787 29963)												0													111.0	114.0	113.0					2																	210560091		2203	4300	6503	SO:0001583	missense	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3197G>T	2.37:g.210560091G>T	ENSP00000353508:p.Arg1066Met		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt	p.R1066M	ENST00000360351.4	37	c.3197	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277004	0.23307	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.20069	2.1;2.1	5.3	1.32	0.21799	MAP2/Tau projection (1);	0.487966	0.20346	N	0.094157	T	0.08935	0.0221	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22695	-1.0209	10	0.72032	D	0.01	-0.6449	3.9838	0.09506	0.6387:0.0:0.2045:0.1568	.	1062;1066	P11137-3;P11137	.;MAP2_HUMAN	M	1066;1062	ENSP00000353508:R1066M;ENSP00000392164:R1062M	ENSP00000353508:R1066M	R	+	2	0	MAP2	210268336	0.059000	0.20769	0.000000	0.03702	0.011000	0.07611	2.262000	0.43285	0.060000	0.16281	-0.312000	0.09012	AGG	MAP2	-	pfam_MAP2_projctn	ENSG00000078018		0.473	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2		0.00	18	0	G	NM_001039538		210560091	+1			no_errors	ENST00000360351	ensembl	human	known	74_37	missense	14.29	12	2	SNP	0.002	T
MAP2K4	6416	genome.wustl.edu	37	17	11935587	11935587	+	Intron	SNP	T	T	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:11935587T>A	ENST00000353533.5	+	1	178				MAP2K4_ENST00000415385.3_Missense_Mutation_p.F40L	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4						apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CTTTAGGCTTTCAGATAAACT	0.269			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																			Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	11	Whole gene deletion(10)|Unknown(1)	ovary(4)|breast(4)|biliary_tract(1)|endometrium(1)|pancreas(1)																																								SO:0001627	intron_variant	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.115+11269T>A	17.37:g.11935587T>A			B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.F40L	ENST00000353533.5	37	c.120	CCDS11162.1	17	.	.	.	.	.	.	.	.	.	.	T	7.088	0.571504	0.13623	.	.	ENSG00000065559	ENST00000415385	T	0.70399	-0.48	5.37	5.37	0.77165	.	.	.	.	.	T	0.56790	0.2009	.	.	.	0.30703	N	0.750043	B	0.02656	0.0	B	0.04013	0.001	T	0.52335	-0.8589	8	0.17369	T	0.5	.	14.3473	0.66675	0.0:0.0:0.0:1.0	.	40	P45985-2	.	L	40	ENSP00000410402:F40L	ENSP00000410402:F40L	F	+	3	2	MAP2K4	11876312	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.205000	0.65186	2.031000	0.59945	0.482000	0.46254	TTT	MAP2K4	-	NULL	ENSG00000065559		0.269	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	-	0.00	63	0	T			11935587	+1	tier1	-	no_errors	ENST00000415385	ensembl	human	known	74_37	missense	9.38	29	3	SNP	1.000	A
MAP3K12	7786	genome.wustl.edu	37	12	53878119	53878119	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:53878119G>C	ENST00000267079.2	-	8	1296	c.1071C>G	c.(1069-1071)ttC>ttG	p.F357L	MAP3K12_ENST00000547035.1_Missense_Mutation_p.F390L|MAP3K12_ENST00000547488.1_Missense_Mutation_p.F390L|MAP3K12_ENST00000547151.1_5'Flank	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	357	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GGATCTGTCGGAATGATGGGC	0.493																																																	0													168.0	114.0	132.0					12																	53878119		2203	4300	6503	SO:0001583	missense	0			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1071C>G	12.37:g.53878119G>C	ENSP00000267079:p.Phe357Leu		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.F357L	ENST00000267079.2	37	c.1071	CCDS8860.1	12	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424968	0.83667	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	D;D;D	0.87103	-2.21;-2.21;-2.21	5.27	4.38	0.52667	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43747	D	0.000521	D	0.92189	0.7523	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92249	0.5807	10	0.87932	D	0	.	9.3425	0.38089	0.1662:0.0:0.8338:0.0	.	390;357	G3V1Y2;Q12852	.;M3K12_HUMAN	L	357;390;390	ENSP00000267079:F357L;ENSP00000449038:F390L;ENSP00000448689:F390L	ENSP00000267079:F357L	F	-	3	2	MAP3K12	52164386	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.395000	0.44459	1.385000	0.46445	0.561000	0.74099	TTC	MAP3K12	-	pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000139625		0.493	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP3K12	HGNC	protein_coding	OTTHUMT00000406267.1	-	0.00	79	0	G	NM_006301		53878119	-1	tier1	-	no_errors	ENST00000267079	ensembl	human	known	74_37	missense	12.50	49	7	SNP	1.000	C
MAP4	4134	genome.wustl.edu	37	3	47969785	47969785	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr3:47969785G>T	ENST00000360240.6	-	4	866	c.348C>A	c.(346-348)agC>agA	p.S116R	MAP4_ENST00000395734.3_Missense_Mutation_p.S116R|MAP4_ENST00000426837.2_Missense_Mutation_p.S133R|MAP4_ENST00000383737.4_Missense_Mutation_p.S116R	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	116					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	GCCAGTTCTGGCTATTTGGGT	0.408																																																	0													160.0	155.0	157.0					3																	47969785		2203	4300	6503	SO:0001583	missense	0				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.348C>A	3.37:g.47969785G>T	ENSP00000353375:p.Ser116Arg		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	pfam_MAP_tubulin-bd_rpt	p.S116R	ENST00000360240.6	37	c.348	CCDS33750.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.06|13.06	2.124467|2.124467	0.37533|0.37533	.|.	.|.	ENSG00000047849|ENSG00000047849	ENST00000423088|ENST00000383737;ENST00000395734;ENST00000426837;ENST00000360240	.|T;T;T;T	.|0.36699	.|1.24;1.24;1.24;1.24	3.86|3.86	1.76|1.76	0.24704|0.24704	.|.	.|.	.|.	.|.	.|.	T|T	0.32556|0.32556	0.0833|0.0833	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.60575	.|0.988;0.96;0.947	.|P;P;P	.|0.51229	.|0.601;0.663;0.544	T|T	0.05801|0.05801	-1.0863|-1.0863	5|9	.|0.25751	.|T	.|0.34	-7.0E-4|-7.0E-4	6.4058|6.4058	0.21664|0.21664	0.2533:0.0:0.7467:0.0|0.2533:0.0:0.7467:0.0	.|.	.|93;116;116	.|C9JFC3;P27816-6;P27816	.|.;.;MAP4_HUMAN	D|R	123|116;116;133;116	.|ENSP00000373243:S116R;ENSP00000379083:S116R;ENSP00000407602:S133R;ENSP00000353375:S116R	.|ENSP00000353375:S116R	A|S	-|-	2|3	0|2	MAP4|MAP4	47944789|47944789	0.795000|0.795000	0.28851|0.28851	0.992000|0.992000	0.48379|0.48379	0.890000|0.890000	0.51754|0.51754	0.226000|0.226000	0.17776|0.17776	0.488000|0.488000	0.27723|0.27723	0.585000|0.585000	0.79938|0.79938	GCC|AGC	MAP4	-	NULL	ENSG00000047849		0.408	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP4	HGNC	protein_coding	OTTHUMT00000346085.1	-	0.00	181	0	G	NM_002375		47969785	-1	tier1	-	no_errors	ENST00000360240	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.991	T
MAP7D2	256714	genome.wustl.edu	37	X	20030525	20030525	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chrX:20030525C>G	ENST00000379651.3	-	14	1909	c.1891G>C	c.(1891-1893)Gat>Cat	p.D631H	MAP7D2_ENST00000379643.5_Missense_Mutation_p.D672H|MAP7D2_ENST00000452324.3_Missense_Mutation_p.D579H|MAP7D2_ENST00000443379.3_Missense_Mutation_p.D586H|MAP7D2_ENST00000543767.1_Missense_Mutation_p.D516H	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	631					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)		p.D672N(1)|p.D631N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GATTTCCCATCAAGGGCATCC	0.433																																																	2	Substitution - Missense(2)	lung(2)											151.0	142.0	145.0					X																	20030525		2203	4300	6503	SO:0001583	missense	0			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1891G>C	X.37:g.20030525C>G	ENSP00000368972:p.Asp631His		B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	pfam_MAP7	p.D672H	ENST00000379651.3	37	c.2014	CCDS14195.1	X	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694776	0.68386	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29	5.54	4.65	0.58169	.	0.070419	0.64402	D	0.000019	D	0.91758	0.7393	L	0.59436	1.845	0.46823	D	0.999215	D;D;D;D;D	0.89917	0.998;0.999;0.999;0.998;1.0	D;D;D;D;D	0.81914	0.983;0.993;0.993;0.983;0.995	D	0.91639	0.5325	10	0.52906	T	0.07	-20.4014	15.3869	0.74708	0.0:0.8639:0.1361:0.0	.	586;579;672;631;516	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	H	631;672;516;586;314;579	ENSP00000368972:D631H;ENSP00000368964:D672H;ENSP00000440691:D516H;ENSP00000388239:D586H;ENSP00000413301:D579H	ENSP00000368964:D672H	D	-	1	0	MAP7D2	19940446	0.995000	0.38212	0.873000	0.34254	0.942000	0.58702	2.408000	0.44574	1.071000	0.40834	0.525000	0.51046	GAT	MAP7D2	-	NULL	ENSG00000184368		0.433	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP7D2	HGNC	protein_coding	OTTHUMT00000056001.1	-	0.00	58	0	C	NM_152780		20030525	-1	tier1	-	no_errors	ENST00000379643	ensembl	human	known	74_37	missense	11.36	39	5	SNP	0.991	G
MAST3	23031	genome.wustl.edu	37	19	18255452	18255452	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr19:18255452C>T	ENST00000262811.6	+	22	2674	c.2674C>T	c.(2674-2676)Cgc>Tgc	p.R892C	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	892	Ser-rich.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.R914C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CAGTGGGGGCCGCGTGCCCAA	0.667																																																	1	Substitution - Missense(1)	large_intestine(1)											33.0	43.0	40.0					19																	18255452		2139	4236	6375	SO:0001583	missense	0			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2674C>T	19.37:g.18255452C>T	ENSP00000262811:p.Arg892Cys		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.R892C	ENST00000262811.6	37	c.2674	CCDS46014.1	19	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137448	0.37728	.	.	ENSG00000099308	ENST00000262811	T	0.68624	-0.34	4.79	2.58	0.30949	.	0.073816	0.53938	D	0.000049	T	0.58163	0.2103	L	0.54323	1.7	0.45403	D	0.998387	B	0.14805	0.011	B	0.06405	0.002	T	0.55379	-0.8150	10	0.87932	D	0	-4.9439	8.4466	0.32845	0.1533:0.7646:0.0:0.0821	.	892	O60307	MAST3_HUMAN	C	892	ENSP00000262811:R892C	ENSP00000262811:R892C	R	+	1	0	MAST3	18116452	0.998000	0.40836	0.890000	0.34922	0.603000	0.37013	1.270000	0.33086	0.412000	0.25729	0.491000	0.48974	CGC	MAST3	-	NULL	ENSG00000099308		0.667	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2		0.00	69	0	C	XM_038150		18255452	+1			no_errors	ENST00000262811	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.996	T
MCIDAS	345643	genome.wustl.edu	37	5	54516532	54516532	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:54516532C>A	ENST00000513312.1	-	7	996	c.820G>T	c.(820-822)Ggg>Tgg	p.G274W	MCIDAS_ENST00000515336.1_5'Flank	NM_001190787.1	NP_001177716.1	D6RGH6	MCIN_HUMAN	multiciliate differentiation and DNA synthesis associated cell cycle protein	274	Necessary and sufficient for proper nuclear localization.				cell cycle (GO:0007049)|cilium assembly (GO:0042384)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA replication (GO:0006275)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription coactivator activity (GO:0003713)										CAATCCTGCCCCGCAGCGCTG	0.657																																																	0																																										SO:0001583	missense	0			FR854393	CCDS54853.1	5q11.2	2013-02-28	2013-02-28	2013-02-28	ENSG00000234602	ENSG00000234602			40050	protein-coding gene	gene with protein product	"""multicilin"""	614086	"""multiciliate cell differentiation 1"""	MCIN		21543332, 22231168	Standard	NM_001190787		Approved	MCI, IDAS	uc021xyp.1	D6RGH6	OTTHUMG00000162600	ENST00000513312.1:c.820G>T	5.37:g.54516532C>A	ENSP00000426359:p.Gly274Trp		C9JGY3|D6R920|F8KGQ8	Missense_Mutation	SNP	pfam_Geminin_fam	p.G274W	ENST00000513312.1	37	c.820	CCDS54853.1	5	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017503	0.35606	.	.	ENSG00000234602	ENST00000513312	.	.	.	4.72	3.83	0.44106	.	.	.	.	.	T	0.51346	0.1669	L	0.36672	1.1	0.09310	N	0.999998	D	0.89917	1.0	D	0.79108	0.992	T	0.31503	-0.9941	8	0.87932	D	0	-4.2612	8.9859	0.35994	0.0:0.8254:0.0:0.1746	.	274	D6RGH6	IDAS_HUMAN	W	274	.	ENSP00000426359:G274W	G	-	1	0	RP11-528L24.3	54552289	0.002000	0.14202	0.443000	0.26883	0.076000	0.17211	0.965000	0.29319	2.455000	0.83008	0.655000	0.94253	GGG	MCIDAS	-	NULL	ENSG00000234602		0.657	MCIDAS-001	NOVEL	basic|appris_principal|CCDS	protein_coding	MCIDAS	HGNC	protein_coding	OTTHUMT00000369710.1	-	0.00	84	0	C	NM_001190787		54516532	-1	tier1	-	no_errors	ENST00000513312	ensembl	human	novel	74_37	missense	11.11	32	4	SNP	0.145	A
MED13L	23389	genome.wustl.edu	37	12	116446894	116446894	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:116446894G>T	ENST00000281928.3	-	10	1530	c.1324C>A	c.(1324-1326)Ccc>Acc	p.P442T		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	442						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GATACTGTGGGAGGTCGATTG	0.408																																																	0													144.0	135.0	138.0					12																	116446894		2203	4300	6503	SO:0001583	missense	0			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.1324C>A	12.37:g.116446894G>T	ENSP00000281928:p.Pro442Thr		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.P442T	ENST00000281928.3	37	c.1324	CCDS9177.1	12	.	.	.	.	.	.	.	.	.	.	G	12.82	2.051562	0.36181	.	.	ENSG00000123066	ENST00000281928	T	0.73469	-0.75	5.76	4.87	0.63330	.	0.235162	0.44097	D	0.000493	T	0.68357	0.2992	L	0.59436	1.845	0.41923	D	0.990528	B	0.33826	0.427	B	0.32211	0.142	T	0.67772	-0.5584	10	0.39692	T	0.17	.	10.9009	0.47051	0.1431:0.0:0.8569:0.0	.	442	Q71F56	MD13L_HUMAN	T	442	ENSP00000281928:P442T	ENSP00000281928:P442T	P	-	1	0	MED13L	114931277	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.662000	0.46766	1.453000	0.47775	0.655000	0.94253	CCC	MED13L	-	NULL	ENSG00000123066		0.408	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3	-	0.00	92	0	G			116446894	-1	tier1	-	no_errors	ENST00000281928	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T
MRPL22	29093	genome.wustl.edu	37	5	154330416	154330416	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:154330416C>A	ENST00000523037.1	+	3	154	c.113C>A	c.(112-114)tCt>tAt	p.S38Y	MRPL22_ENST00000522038.1_Missense_Mutation_p.S44Y|MRPL22_ENST00000265229.8_Intron|MRPL22_ENST00000439747.3_Missense_Mutation_p.S64Y	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	38					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACAAGTGCTTCTCTTGACATT	0.398																																																	0													122.0	120.0	121.0					5																	154330416		2203	4300	6503	SO:0001583	missense	0			AB051622	CCDS4331.1, CCDS43391.1	5q33.2	2012-09-13			ENSG00000082515	ENSG00000082515		"""Mitochondrial ribosomal proteins / large subunits"""	14480	protein-coding gene	gene with protein product		611835					Standard	NM_014180		Approved	MRP-L25, RPML25, HSPC158	uc003lvy.4	Q9NWU5	OTTHUMG00000130190	ENST00000523037.1:c.113C>A	5.37:g.154330416C>A	ENSP00000431040:p.Ser38Tyr		A6NGJ8|Q5H9Q1|Q96Q51|Q9P006	Missense_Mutation	SNP	pfam_Ribosomal_L22,superfamily_Ribosomal_L22	p.S38Y	ENST00000523037.1	37	c.113	CCDS4331.1	5	.	.	.	.	.	.	.	.	.	.	C	12.81	2.050607	0.36181	.	.	ENSG00000082515	ENST00000523037;ENST00000439747;ENST00000522038	T;T;T	0.55234	0.57;0.53;0.73	4.9	4.9	0.64082	.	0.521703	0.22519	N	0.058988	T	0.53174	0.1780	M	0.68593	2.085	0.36445	D	0.865705	B	0.18310	0.027	B	0.15484	0.013	T	0.61367	-0.7077	10	0.66056	D	0.02	-0.7136	15.3607	0.74472	0.0:1.0:0.0:0.0	.	38	Q9NWU5	RM22_HUMAN	Y	38;64;44	ENSP00000431040:S38Y;ENSP00000411177:S64Y;ENSP00000429039:S44Y	ENSP00000411177:S64Y	S	+	2	0	MRPL22	154310609	0.452000	0.25713	0.805000	0.32314	0.681000	0.39784	2.089000	0.41672	2.404000	0.81709	0.591000	0.81541	TCT	MRPL22	-	NULL	ENSG00000082515		0.398	MRPL22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MRPL22	HGNC	protein_coding	OTTHUMT00000252508.2	-	0.00	102	0	C			154330416	+1	tier1	-	no_errors	ENST00000523037	ensembl	human	known	74_37	missense	57.14	17	24	SNP	0.916	A
MS4A10	341116	genome.wustl.edu	37	11	60559758	60559758	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr11:60559758G>T	ENST00000308287.1	+	4	420	c.324G>T	c.(322-324)ttG>ttT	p.L108F		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	108						integral component of membrane (GO:0016021)		p.L108L(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						CAGGGATCTTGGCGATAACAA	0.453																																																	1	Substitution - coding silent(1)	large_intestine(1)											190.0	174.0	179.0					11																	60559758		2203	4300	6503	SO:0001583	missense	0			AK122633	CCDS7992.1	11q12.2	2008-02-05				ENSG00000172689			13368	protein-coding gene	gene with protein product		608403				11486273, 11401424	Standard	NM_206893		Approved	CD20L7, MS4A9	uc001npz.1	Q96PG2		ENST00000308287.1:c.324G>T	11.37:g.60559758G>T	ENSP00000311862:p.Leu108Phe		B2RP45|Q96PG3	Missense_Mutation	SNP	pfam_CD20-like	p.L108F	ENST00000308287.1	37	c.324	CCDS7992.1	11	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867749	0.51588	.	.	ENSG00000172689	ENST00000308287	T	0.04317	3.65	3.15	1.21	0.21127	.	1.251970	0.06449	N	0.727314	T	0.17238	0.0414	M	0.70595	2.14	0.09310	N	1	D	0.76494	0.999	D	0.69824	0.966	T	0.12760	-1.0535	10	0.59425	D	0.04	-0.261	5.5899	0.17295	0.2598:0.0:0.7401:0.0	.	108	Q96PG2	M4A10_HUMAN	F	108	ENSP00000311862:L108F	ENSP00000311862:L108F	L	+	3	2	MS4A10	60316334	0.043000	0.20138	0.004000	0.12327	0.573000	0.36030	1.402000	0.34600	0.333000	0.23563	0.555000	0.69702	TTG	MS4A10	-	pfam_CD20-like	ENSG00000172689		0.453	MS4A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A10	HGNC	protein_coding	OTTHUMT00000395619.1		0.00	82	0	G	NM_206893		60559758	+1			no_errors	ENST00000308287	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.004	T
MT-ND2	4536	genome.wustl.edu	37	M	1574	1574	+	5'Flank	SNP	G	G	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chrM:1574G>C	ENST00000361453.3	+	0	0				MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-ND1_ENST00000361390.2_5'Flank			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						GTAACATGGTAAGTGTACTGG	0.453																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.1574G>C	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	-	NULL	ENST00000361453.3	37	NULL		MT																																																																																			MT-RNR1	-	-	ENSG00000211459		0.453	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR1	HGNC	protein_coding		-	0.00	19	0	G	YP_003024027		1574	+1	tier1	-	no_errors	ENST00000389680	ensembl	human	known	74_37	rna	94.44	1	17	SNP	NULL	C
MT-CO1	4512	genome.wustl.edu	37	M	4403	4403	+	5'Flank	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chrM:4403G>A	ENST00000361624.2	+	0	0				MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-TM_ENST00000387377.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						cccatcctaAAGTAAGGTCAG	0.458																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.4403G>A	Exception_encountered		Q34770	RNA	SNP	-	NULL	ENST00000361624.2	37	NULL		MT																																																																																			MT-TM	-	-	ENSG00000210112		0.458	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-TM	HGNC	protein_coding			0.00	10	0	G	YP_003024028		4403	+1			no_errors	ENST00000387377	ensembl	human	known	74_37	rna	47.06	9	8	SNP	NULL	A
MTMR12	54545	genome.wustl.edu	37	5	32230000	32230000	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:32230000G>T	ENST00000382142.3	-	16	2298	c.2128C>A	c.(2128-2130)Ctg>Atg	p.L710M	MTMR12_ENST00000264934.5_Missense_Mutation_p.L600M|MTMR12_ENST00000280285.5_Missense_Mutation_p.L656M|MTMR12_ENST00000510216.1_5'Flank	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	710						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CGCTGGAGCAGAGCGAAAGGA	0.577																																																	0													94.0	89.0	91.0					5																	32230000		2203	4300	6503	SO:0001583	missense	0			AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.2128C>A	5.37:g.32230000G>T	ENSP00000371577:p.Leu710Met		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	pfam_Myotubularin_assoc	p.L710M	ENST00000382142.3	37	c.2128	CCDS34138.1	5	.	.	.	.	.	.	.	.	.	.	G	9.924	1.213077	0.22289	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.95918	-3.85;-3.49;-3.37	5.17	-9.68	0.00528	.	1.010380	0.07944	N	0.979714	D	0.86414	0.5927	N	0.12182	0.205	0.09310	N	1	B;B;B	0.15473	0.011;0.013;0.008	B;B;B	0.17979	0.019;0.02;0.009	T	0.74685	-0.3582	10	0.46703	T	0.11	.	8.2617	0.31788	0.7176:0.0:0.1218:0.1606	.	600;656;710	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	M	656;710;600	ENSP00000280285:L656M;ENSP00000371577:L710M;ENSP00000264934:L600M	ENSP00000264934:L600M	L	-	1	2	MTMR12	32265757	0.000000	0.05858	0.003000	0.11579	0.834000	0.47266	-0.195000	0.09546	-2.353000	0.00615	-0.379000	0.06801	CTG	MTMR12	-	NULL	ENSG00000150712		0.577	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR12	HGNC	protein_coding	OTTHUMT00000366579.1		0.00	54	0	G	NM_019061		32230000	-1			no_errors	ENST00000382142	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.114	T
MTUS2	23281	genome.wustl.edu	37	13	29600336	29600336	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr13:29600336G>T	ENST00000431530.3	+	1	1589	c.1531G>T	c.(1531-1533)Gag>Tag	p.E511*		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	501						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGAAAGCAAAGAGGTCACCAC	0.483																																																	0													85.0	90.0	89.0					13																	29600336		1980	4159	6139	SO:0001587	stop_gained	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1531G>T	13.37:g.29600336G>T	ENSP00000392057:p.Glu511*		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Nonsense_Mutation	SNP	NULL	p.E511*	ENST00000431530.3	37	c.1531	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	g	37	6.254543	0.97417	.	.	ENSG00000132938	ENST00000431530	.	.	.	5.92	0.375	0.16188	.	1.490410	0.04009	N	0.297792	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0216	0.30412	0.2361:0.3168:0.447:0.0	.	.	.	.	X	511	.	.	E	+	1	0	MTUS2	28498336	0.018000	0.18449	0.001000	0.08648	0.002000	0.02628	1.211000	0.32382	0.076000	0.16826	0.655000	0.94253	GAG	MTUS2	-	NULL	ENSG00000132938		0.483	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3		0.00	103	0	G	XM_166270		29600336	+1			no_errors	ENST00000431530	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	0.000	T
MUC16	94025	genome.wustl.edu	37	19	9067553	9067553	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr19:9067553G>T	ENST00000397910.4	-	3	20096	c.19893C>A	c.(19891-19893)gaC>gaA	p.D6631E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6633	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAACAATGGTGTCCCTTATGT	0.493																																																	0													153.0	144.0	147.0					19																	9067553		1983	4171	6154	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19893C>A	19.37:g.9067553G>T	ENSP00000381008:p.Asp6631Glu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.D6631E	ENST00000397910.4	37	c.19893	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	5.118	0.207478	0.09704	.	.	ENSG00000181143	ENST00000397910	T	0.20738	2.05	2.34	-1.6	0.08426	.	.	.	.	.	T	0.09158	0.0226	N	0.14661	0.345	.	.	.	B	0.27166	0.17	B	0.19391	0.025	T	0.29792	-1.0000	8	0.87932	D	0	.	1.0977	0.01677	0.148:0.2247:0.3983:0.229	.	6631	B5ME49	.	E	6631	ENSP00000381008:D6631E	ENSP00000381008:D6631E	D	-	3	2	MUC16	8928553	0.000000	0.05858	0.000000	0.03702	0.621000	0.37620	-1.135000	0.03225	-0.212000	0.10109	0.154000	0.16183	GAC	MUC16	-	NULL	ENSG00000181143		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	47	0	G	NM_024690		9067553	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	61.76	13	21	SNP	0.000	T
MUC16	94025	genome.wustl.edu	37	19	9082704	9082704	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr19:9082704C>G	ENST00000397910.4	-	1	9314	c.9111G>C	c.(9109-9111)gaG>gaC	p.E3037D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3038	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTTTCTTTCTCAGTGGATA	0.488																																																	0													110.0	109.0	109.0					19																	9082704		2003	4185	6188	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9111G>C	19.37:g.9082704C>G	ENSP00000381008:p.Glu3037Asp		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.E3037D	ENST00000397910.4	37	c.9111	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	3.821	-0.037735	0.07497	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	0.773	-0.459	0.12179	.	.	.	.	.	T	0.01287	0.0042	N	0.08118	0	.	.	.	P	0.45594	0.862	B	0.34722	0.188	T	0.47209	-0.9135	8	0.87932	D	0	.	3.109	0.06351	0.0:0.6396:0.0:0.3604	.	3037	B5ME49	.	D	3037	ENSP00000381008:E3037D	ENSP00000381008:E3037D	E	-	3	2	MUC16	8943704	0.000000	0.05858	0.014000	0.15608	0.269000	0.26545	-0.734000	0.04893	-0.149000	0.11215	0.313000	0.20887	GAG	MUC16	-	NULL	ENSG00000181143		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1		0.00	93	0	C	NM_024690		9082704	-1			no_errors	ENST00000397910	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.024	G
MYB	4602	genome.wustl.edu	37	6	135511466	135511466	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr6:135511466G>A	ENST00000367814.4	+	5	694	c.508G>A	c.(508-510)Gca>Aca	p.A170T	MYB_ENST00000420123.2_Missense_Mutation_p.A146T|MYB_ENST00000527615.1_Missense_Mutation_p.A170T|MYB_ENST00000316528.8_Missense_Mutation_p.A170T|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534044.1_Missense_Mutation_p.A170T|MYB_ENST00000533624.1_Missense_Mutation_p.A170T|MYB_ENST00000341911.5_Missense_Mutation_p.A170T|MYB_ENST00000525369.1_Missense_Mutation_p.A170T|MYB_ENST00000534121.1_Missense_Mutation_p.A170T|MYB_ENST00000528774.1_Missense_Mutation_p.A170T|MYB_ENST00000442647.2_Missense_Mutation_p.A170T	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	170	HTH myb-type 3. {ECO:0000255|PROSITE- ProRule:PRU00625}.|Interaction with HIPK2 and NLK. {ECO:0000250}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.A170T(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GGCAGAAATCGCAAAGCTACT	0.418			T	NFIB	adenoid cystic carcinoma																																			Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	2	Substitution - Missense(2)	large_intestine(2)											55.0	58.0	57.0					6																	135511466		2203	4300	6503	SO:0001583	missense	0				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.508G>A	6.37:g.135511466G>A	ENSP00000356788:p.Ala170Thr		E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.A170T	ENST00000367814.4	37	c.508	CCDS5174.1	6	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037006	0.93630	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000420123;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624;ENST00000430686	T;T;T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.93	5.93	0.95920	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.74061	0.3667	M	0.86028	2.79	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;P;D;D;D	0.77004	0.983;0.961;0.983;0.975;0.974;0.802;0.983;0.949;0.989	T	0.76817	-0.2819	10	0.87932	D	0	-14.1146	20.3311	0.98718	0.0:0.0:1.0:0.0	.	170;170;170;170;170;170;170;170;170	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;MYB_HUMAN;.	T	170;170;170;170;170;170;146;170;170;170;170;170;124	ENSP00000339992:A170T;ENSP00000410825:A170T;ENSP00000326328:A170T;ENSP00000356788:A170T;ENSP00000433227:A170T;ENSP00000435938:A170T;ENSP00000434723:A170T;ENSP00000432851:A170T;ENSP00000435055:A170T;ENSP00000436605:A170T	ENSP00000237302:A170T	A	+	1	0	MYB	135553159	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.797000	0.96272	0.655000	0.94253	GCA	MYB	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	ENSG00000118513		0.418	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	HGNC	protein_coding	OTTHUMT00000042347.4		0.00	83	0	G			135511466	+1			no_errors	ENST00000341911	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	A
MYCN	4613	genome.wustl.edu	37	2	16085955	16085955	+	Silent	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:16085955G>A	ENST00000281043.3	+	3	1428	c.1131G>A	c.(1129-1131)tcG>tcA	p.S377S		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	377					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			ACTCTGACTCGGAGGACAGTG	0.607			A		neuroblastoma																																			Dom	yes		2	2p24.1	4613	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""		O	0													57.0	60.0	59.0					2																	16085955		2202	4300	6502	SO:0001819	synonymous_variant	0			BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.1131G>A	2.37:g.16085955G>A			Q53XS5|Q6LDT9	Silent	SNP	pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc	p.S377	ENST00000281043.3	37	c.1131	CCDS1687.1	2																																																																																			MYCN	-	superfamily_bHLH_dom,prints_Tscrpt_reg_Myc	ENSG00000134323		0.607	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYCN	HGNC	protein_coding	OTTHUMT00000095469.2		0.00	33	0	G	NM_005378		16085955	+1			no_errors	ENST00000281043	ensembl	human	known	74_37	silent	8.57	32	3	SNP	0.988	A
MYO15A	51168	genome.wustl.edu	37	17	18058015	18058015	+	Missense_Mutation	SNP	G	G	A	rs142465521		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:18058015G>A	ENST00000205890.5	+	45	8508	c.8170G>A	c.(8170-8172)Gag>Aag	p.E2724K	MYO15A_ENST00000585180.1_5'UTR|MYO15A_ENST00000418233.3_5'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2724	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CACGCTCTCCGAGGCCTGCCT	0.597																																																	0													68.0	74.0	72.0					17																	18058015		2061	4212	6273	SO:0001583	missense	0			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.8170G>A	17.37:g.18058015G>A	ENSP00000205890:p.Glu2724Lys		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.E2724K	ENST00000205890.5	37	c.8170	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208687	0.79240	.	.	ENSG00000091536	ENST00000205890	D	0.88586	-2.4	5.34	5.34	0.76211	.	.	.	.	.	D	0.89230	0.6656	M	0.73372	2.23	0.80722	D	1	D	0.52996	0.957	B	0.43155	0.41	D	0.88339	0.2973	9	0.31617	T	0.26	.	19.3859	0.94556	0.0:0.0:1.0:0.0	.	2724	Q9UKN7	MYO15_HUMAN	K	2724	ENSP00000205890:E2724K	ENSP00000205890:E2724K	E	+	1	0	MYO15A	17998740	1.000000	0.71417	0.863000	0.33907	0.556000	0.35491	6.032000	0.70918	2.641000	0.89580	0.655000	0.94253	GAG	MYO15A	-	NULL	ENSG00000091536		0.597	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1		0.00	27	0	G	NM_016239		18058015	+1			no_errors	ENST00000205890	ensembl	human	known	74_37	missense	11.11	16	2	SNP	1.000	A
NAV1	89796	genome.wustl.edu	37	1	201617946	201617948	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	CGG	CGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:201617946_201617948delCGG	ENST00000367296.4	+	1	570_572	c.150_152delCGG	c.(148-153)cccggc>ccc	p.G55del	NAV1_ENST00000367297.4_In_Frame_Del_p.G55del|NAV1_ENST00000367302.1_In_Frame_Del_p.G68del|NAV1_ENST00000295624.6_In_Frame_Del_p.G55del|NAV1_ENST00000367300.3_In_Frame_Del_p.G55del	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	55					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						ccaaggcgcccggcggcggcggc	0.783																																																	0										18,6,2494		4,0,10,1,4,1240						4.7	1.0			5	32,88,5370		3,0,26,19,50,2647	no	codingComplex	NAV1	NM_020443.4		7,0,36,20,54,3887	A1A1,A1A2,A1R,A2A2,A2R,RR		2.1858,0.9531,1.7982				50,94,7864				SO:0001651	inframe_deletion	0			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.150_152delCGG	1.37:g.201617955_201617957delCGG	ENSP00000356265:p.Gly55del		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	In_Frame_Del	DEL	superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.G54in_frame_del	ENST00000367296.4	37	c.150_152	CCDS1414.2	1																																																																																			NAV1	-	NULL	ENSG00000134369		0.783	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1		0.00	22	0	CGG	NM_020443		201617948	+1	tier1		no_errors	ENST00000367296	ensembl	human	known	74_37	in_frame_del	28.57	5	2	DEL	0.545:0.955:0.994	-
NCOR1	9611	genome.wustl.edu	37	17	15950318	15950318	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:15950318T>A	ENST00000268712.3	-	42	6883	c.6626A>T	c.(6625-6627)aAg>aTg	p.K2209M	NCOR1_ENST00000395851.1_Missense_Mutation_p.K2106M|NCOR1_ENST00000395857.3_Missense_Mutation_p.K793M	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2209	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AATCTCCTGCTTCTTTGATTT	0.423																																																	0													140.0	131.0	134.0					17																	15950318		2203	4300	6503	SO:0001583	missense	0			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.6626A>T	17.37:g.15950318T>A	ENSP00000268712:p.Lys2209Met		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.K2209M	ENST00000268712.3	37	c.6626	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	T	14.07	2.425295	0.43020	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.72282	-0.64;-0.01;-0.41	5.61	5.61	0.85477	.	0.041107	0.85682	D	0.000000	D	0.82623	0.5077	M	0.67397	2.05	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.997;0.996;0.996;0.997;0.987	D	0.84623	0.0685	10	0.87932	D	0	-15.4371	14.971	0.71235	0.0:0.0:0.0:1.0	.	1019;2113;2209;2106;729;223	B4DZ48;E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;.;NCOR1_HUMAN;.;.;.	M	2209;2106;2113;793	ENSP00000268712:K2209M;ENSP00000379192:K2106M;ENSP00000379198:K793M	ENSP00000268712:K2209M	K	-	2	0	NCOR1	15891043	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.454000	0.80714	2.138000	0.66242	0.454000	0.30748	AAG	NCOR1	-	NULL	ENSG00000141027		0.423	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	-	0.00	112	0	T	NM_006311		15950318	-1	tier1	-	no_errors	ENST00000268712	ensembl	human	known	74_37	missense	66.67	21	42	SNP	1.000	A
NFATC2IP	84901	genome.wustl.edu	37	16	28975131	28975131	+	Silent	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:28975131C>T	ENST00000320805.4	+	8	1282	c.1207C>T	c.(1207-1209)Ctg>Ttg	p.L403L	NFATC2IP_ENST00000564978.1_Silent_p.L124L|NFATC2IP_ENST00000568148.1_Silent_p.L111L|RP11-264B17.2_ENST00000569974.1_RNA	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	403	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						AGGCAGGGAGCTGCCAGCTGA	0.582																																																	0													63.0	60.0	61.0					16																	28975131		2197	4300	6497	SO:0001819	synonymous_variant	0			AK074761	CCDS10645.1	16p11.2	2010-09-13			ENSG00000176953	ENSG00000176953			25906	protein-coding gene	gene with protein product		614525				15698469	Standard	NM_032815		Approved	FLJ14639, NIP45, RAD60, ESC2	uc002dru.3	Q8NCF5	OTTHUMG00000097763	ENST00000320805.4:c.1207C>T	16.37:g.28975131C>T			B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9	Silent	SNP	pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.L403	ENST00000320805.4	37	c.1207	CCDS10645.1	16																																																																																			NFATC2IP	-	pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	ENSG00000176953		0.582	NFATC2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFATC2IP	HGNC	protein_coding	OTTHUMT00000214999.2	-	0.00	77	0	C	NM_032815		28975131	+1	tier1	-	no_errors	ENST00000320805	ensembl	human	known	74_37	silent	14.81	23	4	SNP	1.000	T
NFE2L2	4780	genome.wustl.edu	37	2	178098800	178098800	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:178098800T>C	ENST00000397062.3	-	2	799	c.245A>G	c.(244-246)gAa>gGa	p.E82G	NFE2L2_ENST00000397063.4_Missense_Mutation_p.E66G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E66G|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E66G|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E66G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	82					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E82G(3)|p.G81_F83delGEF(1)|p.E82V(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TGGGAGAAATTCACCTGTCTC	0.433			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	5	Substitution - Missense(4)|Deletion - In frame(1)	liver(3)|lung(1)|oesophagus(1)											137.0	137.0	137.0					2																	178098800		1900	4105	6005	SO:0001583	missense	0				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.245A>G	2.37:g.178098800T>C	ENSP00000380252:p.Glu82Gly		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.E82G	ENST00000397062.3	37	c.245	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	T	29.9	5.048793	0.93740	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T	0.38077	1.57;1.57;1.57;1.16;1.16;1.57	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.997;0.994;0.998;0.997	T	0.72959	-0.4133	10	0.87932	D	0	.	16.098	0.81144	0.0:0.0:0.0:1.0	.	66;66;66;82	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	G	66;82;66;66;66;66	ENSP00000380253:E66G;ENSP00000380252:E82G;ENSP00000411575:E66G;ENSP00000400073:E66G;ENSP00000412191:E66G;ENSP00000410015:E66G	ENSP00000380252:E82G	E	-	2	0	NFE2L2	177807046	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.503000	0.81632	2.210000	0.71456	0.460000	0.39030	GAA	NFE2L2	-	NULL	ENSG00000116044		0.433	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	-	0.00	112	0	T	NM_006164		178098800	-1	tier1	-	no_errors	ENST00000397062	ensembl	human	known	74_37	missense	51.52	32	34	SNP	1.000	C
NLRP4	147945	genome.wustl.edu	37	19	56388459	56388459	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr19:56388459G>T	ENST00000301295.6	+	8	3045	c.2623G>T	c.(2623-2625)Gaa>Taa	p.E875*	NLRP4_ENST00000587891.1_Nonsense_Mutation_p.E800*|NLRP4_ENST00000346986.5_Nonsense_Mutation_p.E819*	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	875					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)		TGGGTGCAATGAAATCGGAGA	0.493																																																	0													192.0	184.0	187.0					19																	56388459		2203	4300	6503	SO:0001587	stop_gained	0			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.2623G>T	19.37:g.56388459G>T	ENSP00000301295:p.Glu875*		Q86W87|Q96AY6	Nonsense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E875*	ENST00000301295.6	37	c.2623	CCDS12936.1	19	.	.	.	.	.	.	.	.	.	.	G	39	7.562594	0.98361	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	.	.	.	3.75	-4.82	0.03171	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.7664	0.13134	0.464:0.3108:0.2251:0.0	.	.	.	.	X	875;819	.	ENSP00000301295:E875X	E	+	1	0	NLRP4	61080271	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.729000	0.04920	-0.585000	0.05905	0.460000	0.39030	GAA	NLRP4	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000160505		0.493	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	HGNC	protein_coding	OTTHUMT00000457367.2	-	0.00	129	0	G	NM_134444		56388459	+1	tier1	-	no_errors	ENST00000301295	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	0.000	T
NOMO2	283820	genome.wustl.edu	37	16	18549919	18549919	+	Silent	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:18549919G>A	ENST00000381474.3	-	11	1214	c.1149C>T	c.(1147-1149)caC>caT	p.H383H	NOMO2_ENST00000330537.6_Silent_p.H383H|NOMO2_ENST00000543392.1_Silent_p.H216H	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	383						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						CAAAGTAGAGGTGCTCTTTCT	0.443																																																	0													84.0	60.0	68.0					16																	18549919		1577	3256	4833	SO:0001819	synonymous_variant	0			AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.1149C>T	16.37:g.18549919G>A			Q4G177	Silent	SNP	pfam_DUF2012,superfamily_Carb-bd-like_fold,superfamily_CarboxyPept-like_regulatory,superfamily_Collagen-bd_Cna_B-typ_dom	p.H383	ENST00000381474.3	37	c.1149	CCDS32394.1	16																																																																																			NOMO2	-	pfam_DUF2012,superfamily_Carb-bd-like_fold	ENSG00000185164		0.443	NOMO2-002	KNOWN	basic|CCDS	protein_coding	NOMO2	HGNC	protein_coding	OTTHUMT00000435858.1	-	0.00	156	0	G	NM_001004060		18549919	-1	tier1	-	no_errors	ENST00000381474	ensembl	human	known	74_37	silent	7.59	73	6	SNP	1.000	A
NRDE2	55051	genome.wustl.edu	37	14	90764706	90764706	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr14:90764706A>G	ENST00000354366.3	-	8	1796	c.1564T>C	c.(1564-1566)Ttt>Ctt	p.F522L	NRDE2_ENST00000357904.3_Missense_Mutation_p.F291L	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	522								p.F522L(1)									CTGTCCCAAAAGGGTTCAAAG	0.547																																																	1	Substitution - Missense(1)	lung(1)											52.0	54.0	53.0					14																	90764706		2203	4300	6503	SO:0001583	missense	0			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1564T>C	14.37:g.90764706A>G	ENSP00000346335:p.Phe522Leu		B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	pfam_NRDE-2	p.F522L	ENST00000354366.3	37	c.1564	CCDS9890.1	14	.	.	.	.	.	.	.	.	.	.	A	35	5.489812	0.96339	.	.	ENSG00000119720	ENST00000354366;ENST00000357904;ENST00000554464	T;T	0.27402	1.67;1.67	5.8	5.8	0.92144	Domain of unknown function DUF1740 (1);	0.061173	0.64402	D	0.000003	T	0.49490	0.1560	M	0.81802	2.56	0.80722	D	1	D	0.54047	0.964	P	0.51079	0.658	T	0.56715	-0.7933	10	0.72032	D	0.01	-13.3425	16.1382	0.81506	1.0:0.0:0.0:0.0	.	522	Q9H7Z3	CN102_HUMAN	L	522;291;101	ENSP00000346335:F522L;ENSP00000350579:F291L	ENSP00000346335:F522L	F	-	1	0	C14orf102	89834459	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.930000	0.92872	2.212000	0.71576	0.374000	0.22700	TTT	NRDE2	-	pfam_NRDE-2	ENSG00000119720		0.547	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRDE2	HGNC	protein_coding	OTTHUMT00000411264.1	-	0.00	39	0	A	NM_017970		90764706	-1	tier1	-	no_errors	ENST00000354366	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	G
NSUN6	221078	genome.wustl.edu	37	10	18840738	18840738	+	Intron	SNP	A	A	G			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:18840738A>G	ENST00000377304.4	-	9	1490				NSUN6_ENST00000493816.1_5'UTR	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6								methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TCACAAAAACAGACCACCACA	0.418																																																	0													149.0	127.0	134.0					10																	18840738		2203	4300	6503	SO:0001627	intron_variant	0			BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"""NOP2/Sun domain containing"""	23529	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 6"", ""NOL1/NOP2/Sun domain family, member 6"", ""ARL5B antisense RNA 1"""	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.1071+13T>C	10.37:g.18840738A>G			B0YJ54	RNA	SNP	-	NULL	ENST00000377304.4	37	NULL	CCDS7130.1	10																																																																																			NSUN6	-	-	ENSG00000241058		0.418	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN6	HGNC	protein_coding	OTTHUMT00000047083.1	-	0.00	98	0	A	NM_182543		18840738	-1	tier1	-	no_errors	ENST00000493816	ensembl	human	known	74_37	rna	11.11	32	4	SNP	0.000	G
NTM	50863	genome.wustl.edu	37	11	131530880	131530880	+	Intron	DEL	A	A	-			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr11:131530880delA	ENST00000374791.3	+	2	411				NTM_ENST00000539799.1_Intron|AP003039.3_ENST00000416725.1_lincRNA|NTM_ENST00000427481.2_5'Flank	NM_001048209.1	NP_001041674.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TTTAAAGTGGAAAAAAAAATG	0.408																																																	0																																										SO:0001627	intron_variant	0			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374791.3:c.83-250578A>-	11.37:g.131530880delA			A0MTT2|Q6UXJ3|Q86VJ9	RNA	DEL	-	NULL	ENST00000374791.3	37	NULL	CCDS41733.1	11																																																																																			NTM	-	-	ENSG00000182667		0.408	NTM-002	KNOWN	basic|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141936.2		0.00	45	0	A	NM_016522		131530880	+1	tier1		no_errors	ENST00000477098	ensembl	human	putative	74_37	rna	6.90	27	2	DEL	0.999	-
NUTM2B	729262	genome.wustl.edu	37	10	81466077	81466077	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:81466077C>A	ENST00000429828.1	+	2	1045	c.662C>A	c.(661-663)aCc>aAc	p.T221N	NUTM2B_ENST00000448135.1_Missense_Mutation_p.T221N|RP11-119F19.2_ENST00000596088.1_RNA|NUTM2B_ENST00000372321.1_Missense_Mutation_p.T154N|RP11-119F19.2_ENST00000600376.1_RNA|RP11-119F19.2_ENST00000601369.1_RNA	NM_001278495.1	NP_001265424.1	A6NNL0	NTM2B_HUMAN	NUT family member 2B	221																	CAGGCGCAGACCTTGGTCCTA	0.657																																																	0																																										SO:0001583	missense	0				CCDS60574.1	10q22.3	2014-08-13	2013-03-14	2013-03-14	ENSG00000188199	ENSG00000188199			23445	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member B"""	FAM22B			Standard	NM_001278495		Approved	bA119F19.1		A6NNL0	OTTHUMG00000018572	ENST00000429828.1:c.662C>A	10.37:g.81466077C>A	ENSP00000394623:p.Thr221Asn		A6NM73	Missense_Mutation	SNP	NULL	p.T221N	ENST00000429828.1	37	c.662		10	.	.	.	.	.	.	.	.	.	.	.	0.702	-0.790343	0.02884	.	.	ENSG00000188199	ENST00000448135;ENST00000429828;ENST00000372321	T;T;T	0.18960	2.18;2.18;2.18	1.41	-2.81	0.05805	.	.	.	.	.	T	0.09468	0.0233	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41270	-0.9518	6	0.12430	T	0.62	.	7.0659	0.25151	0.6832:0.3168:0.0:0.0	.	.	.	.	N	221;221;154	ENSP00000391631:T221N;ENSP00000394623:T221N;ENSP00000361396:T154N	ENSP00000361396:T154N	T	+	2	0	FAM22B	81136083	0.000000	0.05858	0.006000	0.13384	0.011000	0.07611	-0.521000	0.06245	-0.656000	0.05380	0.391000	0.25812	ACC	NUTM2B	-	NULL	ENSG00000188199		0.657	NUTM2B-201	KNOWN	basic|appris_principal	protein_coding	NUTM2B	HGNC	protein_coding		-	0.00	80	0	C	NG_012780		81466077	+1	tier1	-	no_errors	ENST00000429828	ensembl	human	known	74_37	missense	15.38	33	6	SNP	0.006	A
NYNRIN	57523	genome.wustl.edu	37	14	24884194	24884194	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr14:24884194C>T	ENST00000382554.3	+	9	3557	c.3239C>T	c.(3238-3240)gCc>gTc	p.A1080V		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1080					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CAGGTTCTTGCCCACCTGGCC	0.627																																																	0													75.0	83.0	81.0					14																	24884194		2070	4218	6288	SO:0001583	missense	0			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3239C>T	14.37:g.24884194C>T	ENSP00000371994:p.Ala1080Val		Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.A1080V	ENST00000382554.3	37	c.3239	CCDS45090.1	14	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159396	0.78226	.	.	ENSG00000205978	ENST00000382554	T	0.43688	0.94	4.45	3.48	0.39840	.	.	.	.	.	T	0.41026	0.1141	M	0.75615	2.305	0.22866	N	0.998635	B	0.30793	0.295	B	0.24701	0.055	T	0.38243	-0.9670	9	0.56958	D	0.05	.	8.6969	0.34301	0.2446:0.7554:0.0:0.0	.	1080	Q9P2P1	NYNRI_HUMAN	V	1080	ENSP00000371994:A1080V	ENSP00000371994:A1080V	A	+	2	0	NYNRIN	23954034	0.967000	0.33354	0.888000	0.34837	0.948000	0.59901	1.937000	0.40193	2.296000	0.77279	0.561000	0.74099	GCC	NYNRIN	-	NULL	ENSG00000205978		0.627	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1		0.00	35	0	C			24884194	+1			no_errors	ENST00000382554	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.778	T
OR52N1	79473	genome.wustl.edu	37	11	5809136	5809136	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr11:5809136T>C	ENST00000317078.1	-	1	910	c.911A>G	c.(910-912)gAa>gGa	p.E304G	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AATGACACTTTCTCGTACCTG	0.383																																																	0													102.0	103.0	103.0					11																	5809136		2122	4090	6212	SO:0001583	missense	0			AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.911A>G	11.37:g.5809136T>C	ENSP00000322823:p.Glu304Gly		Q6IFF6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.E304G	ENST00000317078.1	37	c.911	CCDS31398.1	11	.	.	.	.	.	.	.	.	.	.	T	11.81	1.748904	0.30955	.	.	ENSG00000181001	ENST00000317078	T	0.37915	1.17	4.35	3.19	0.36642	.	1.019820	0.07870	N	0.967683	T	0.27454	0.0674	L	0.31157	0.91	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.27020	-1.0086	10	0.62326	D	0.03	.	5.8005	0.18412	0.0:0.0914:0.172:0.7366	.	304	Q8NH53	O52N1_HUMAN	G	304	ENSP00000322823:E304G	ENSP00000322823:E304G	E	-	2	0	OR52N1	5765712	0.004000	0.15560	0.118000	0.21660	0.043000	0.13939	1.272000	0.33109	0.778000	0.33520	0.496000	0.49642	GAA	OR52N1	-	NULL	ENSG00000181001		0.383	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N1	HGNC	protein_coding	OTTHUMT00000401142.1	-	0.00	139	0	T	NM_001001913		5809136	-1	tier1	-	no_errors	ENST00000317078	ensembl	human	known	74_37	missense	32.48	79	38	SNP	0.228	C
OR6K6	128371	genome.wustl.edu	37	1	158724854	158724854	+	Silent	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:158724854G>A	ENST00000368144.2	+	1	345	c.249G>A	c.(247-249)ctG>ctA	p.L83L		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					GCATGGCCCTGCACACCCCTT	0.468																																																	0													167.0	166.0	166.0					1																	158724854		2203	4300	6503	SO:0001819	synonymous_variant	0			BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.249G>A	1.37:g.158724854G>A			B9EIM8|Q5VUU9|Q6IFR4	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L83	ENST00000368144.2	37	c.249	CCDS30904.1	1																																																																																			OR6K6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000180433		0.468	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6K6	HGNC	protein_coding	OTTHUMT00000059065.2	-	0.00	78	0	G	NM_001005184		158724854	+1	tier1	-	no_errors	ENST00000368144	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.209	A
OVCA2	124641	genome.wustl.edu	37	17	1946158	1946158	+	Silent	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:1946158G>T	ENST00000572195.1	+	2	459	c.444G>T	c.(442-444)gtG>gtT	p.V148V	RP11-667K14.3_ENST00000572790.1_lincRNA|DPH1_ENST00000570477.1_3'UTR|RP11-667K14.4_ENST00000572404.1_RNA|DPH1_ENST00000263083.6_3'UTR	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN	ovarian tumor suppressor candidate 2	148					metabolic process (GO:0008152)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)										TCCTCTTGGTGTCTGGTTTCT	0.572											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													101.0	96.0	98.0					17																	1946158		2203	4300	6503	SO:0001819	synonymous_variant	0			AF321875	CCDS11015.1	17p13.3	2012-10-08			ENSG00000262664	ENSG00000262664			24203	protein-coding gene	gene with protein product	"""candidate tumor suppressor in ovarian cancer 2"""	607896				11979432, 8616839, 16368187	Standard	NM_080822		Approved		uc002ftx.3	Q8WZ82	OTTHUMG00000132471	ENST00000572195.1:c.444G>T	17.37:g.1946158G>T		599	Q86XN3|Q8IW87|Q9UCX9	Silent	SNP	pfam_Serine_hydrolase_FSH,pfam_PLipase/COase/thioEstase	p.V148	ENST00000572195.1	37	c.444	CCDS11015.1	17																																																																																			OVCA2	-	pfam_Serine_hydrolase_FSH,pfam_PLipase/COase/thioEstase	ENSG00000262664		0.572	OVCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVCA2	HGNC	protein_coding	OTTHUMT00000255636.5	-	0.00	123	0	G	NM_080822		1946158	+1	tier1	-	no_errors	ENST00000572195	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.005	T
PABPC4L	132430	genome.wustl.edu	37	4	135121430	135121430	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr4:135121430C>T	ENST00000421491.3	-	2	1001	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	PABPC4L_ENST00000529122.2_Missense_Mutation_p.E307K			P0CB38	PAB4L_HUMAN	poly(A) binding protein, cytoplasmic 4-like	249	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)	3						CCATTCATTTCTTCAACAGCT	0.448																																																	0													44.0	37.0	39.0					4																	135121430		692	1591	2283	SO:0001583	missense	0			AY672099		4q28.3	2013-02-12				ENSG00000254535		"""RNA binding motif (RRM) containing"""	31955	protein-coding gene	gene with protein product							Standard	NM_001114734		Approved		uc010ioe.3	P0CB38		ENST00000421491.3:c.745G>A	4.37:g.135121430C>T	ENSP00000463233:p.Glu249Lys			Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.E307K	ENST00000421491.3	37	c.919		4																																																																																			PABPC4L	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000254535		0.448	PABPC4L-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	PABPC4L	HGNC	protein_coding	OTTHUMT00000364399.2		0.00	77	0	C	NM_001114734		135121430	-1			no_errors	ENST00000529122	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.834	T
PCDHA9	9752	genome.wustl.edu	37	5	140229519	140229519	+	Missense_Mutation	SNP	G	G	A	rs562563367		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:140229519G>A	ENST00000532602.1	+	1	2472	c.1439G>A	c.(1438-1440)cGg>cAg	p.R480Q	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.R480Q|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	480	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)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTCTGCGCGGGACGCTGAC	0.657													.|||	1	0.000199681	0.0	0.0	5008	,	,		17824	0.001		0.0	False		,,,				2504	0.0				Melanoma(55;1800 1972 14909)												0													58.0	63.0	61.0					5																	140229519		2194	4268	6462	SO:0001583	missense	0			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1439G>A	5.37:g.140229519G>A	ENSP00000436042:p.Arg480Gln		O15053|Q2M3S5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R480Q	ENST00000532602.1	37	c.1439	CCDS54920.1	5	.	.	.	.	.	.	.	.	.	.	G	3.075	-0.190252	0.06299	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.51071	0.72;0.72	3.56	-3.51	0.04696	Cadherin (4);Cadherin-like (1);	0.833607	0.09224	U	0.831572	T	0.24774	0.0601	N	0.25890	0.77	0.09310	N	1	B;B	0.18968	0.004;0.032	B;B	0.08055	0.003;0.002	T	0.18053	-1.0349	10	0.30078	T	0.28	.	0.6453	0.00817	0.2679:0.1817:0.3358:0.2146	.	480;480	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	Q	480	ENSP00000436042:R480Q;ENSP00000367362:R480Q	ENSP00000367362:R480Q	R	+	2	0	PCDHA9	140209703	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.938000	0.00330	-0.468000	0.06922	-0.683000	0.03753	CGG	PCDHA9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204961		0.657	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2		0.00	198	0	G	NM_031857		140229519	+1			no_errors	ENST00000532602	ensembl	human	known	74_37	missense	7.23	77	6	SNP	0.000	A
PCDHB4	56131	genome.wustl.edu	37	5	140503073	140503073	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:140503073C>T	ENST00000194152.1	+	1	1493	c.1493C>T	c.(1492-1494)cCc>cTc	p.P498L	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	498	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)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCACCTGCCCCTCGCCTCC	0.687																																																	0													35.0	41.0	39.0					5																	140503073		2186	4251	6437	SO:0001583	missense	0			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1493C>T	5.37:g.140503073C>T	ENSP00000194152:p.Pro498Leu		Q4V761	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P498L	ENST00000194152.1	37	c.1493	CCDS4246.1	5	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748457	0.49257	.	.	ENSG00000081818	ENST00000194152	T	0.01665	4.7	3.95	0.854	0.19007	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03608	0.0103	L	0.56124	1.755	0.09310	N	1	B	0.30146	0.27	B	0.39971	0.315	T	0.37197	-0.9716	9	0.72032	D	0.01	.	9.7262	0.40333	0.1466:0.5799:0.2735:0.0	.	498	Q9Y5E5	PCDB4_HUMAN	L	498	ENSP00000194152:P498L	ENSP00000194152:P498L	P	+	2	0	PCDHB4	140483257	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.289000	0.18957	0.056000	0.16144	0.650000	0.86243	CCC	PCDHB4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000081818		0.687	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	HGNC	protein_coding	OTTHUMT00000251812.2	-	0.00	209	0	C	NM_018938		140503073	+1	tier1	-	no_errors	ENST00000194152	ensembl	human	known	74_37	missense	21.09	116	31	SNP	0.001	T
PDE4DIP	9659	genome.wustl.edu	37	1	144917554	144917554	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:144917554T>A	ENST00000369354.3	-	12	1739	c.1550A>T	c.(1549-1551)gAt>gTt	p.D517V	PDE4DIP_ENST00000479408.2_Missense_Mutation_p.D304V|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.D517V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.D583V|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.D680V|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.D517V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.D517V|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.D654V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.D654V|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.D680V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	517					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TAAGTCATGATCTCGCTCTCT	0.468			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													327.0	312.0	317.0					1																	144917554		2203	4296	6499	SO:0001583	missense	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1550A>T	1.37:g.144917554T>A	ENSP00000358360:p.Asp517Val		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.D517V	ENST00000369354.3	37	c.1550	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.898615	0.91962	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.14893	4.47;4.56;4.56;4.56;4.55;3.56;3.57;2.53;2.53;2.47	6.04	6.04	0.98038	.	.	.	.	.	T	0.27098	0.0664	L	0.51422	1.61	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.998;0.999;0.999;0.993;0.999	D;D;D;D;P;D	0.73708	0.948;0.911;0.974;0.966;0.895;0.981	T	0.01824	-1.1266	9	0.87932	D	0	.	14.5796	0.68278	0.0:0.0:0.0:1.0	.	680;304;517;680;583;517	E9PL24;E9PQG4;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;.;MYOME_HUMAN	V	583;517;517;680;654;654;517;517;680;680;304	ENSP00000327209:D583V;ENSP00000358360:D517V;ENSP00000358363:D517V;ENSP00000435654:D654V;ENSP00000358366:D654V;ENSP00000358357:D517V;ENSP00000358355:D517V;ENSP00000316434:D680V;ENSP00000433392:D680V;ENSP00000436791:D304V	ENSP00000327209:D583V	D	-	2	0	PDE4DIP	143628911	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	3.191000	0.50981	2.330000	0.79161	0.529000	0.55759	GAT	PDE4DIP	-	NULL	ENSG00000178104		0.468	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	-	0.00	79	0	T	NM_022359		144917554	-1	tier1	-	no_errors	ENST00000369356	ensembl	human	known	74_37	missense	16.00	42	8	SNP	1.000	A
PGAM5	192111	genome.wustl.edu	37	12	133295362	133295362	+	Intron	SNP	T	T	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:133295362T>C	ENST00000498926.2	+	5	777				PGAM5_ENST00000454808.2_Intron|PGAM5_ENST00000543955.1_Intron|PXMP2_ENST00000545677.1_Intron|PGAM5_ENST00000541034.1_Intron|PGAM5_ENST00000317555.2_Missense_Mutation_p.L245S	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5						dephosphorylation (GO:0016311)|necroptotic process (GO:0070266)|positive regulation of GTPase activity (GO:0043547)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		CCGCCGCTGTTGTCCGCTGGG	0.597																																																	0													141.0	120.0	127.0					12																	133295362		2203	4300	6503	SO:0001627	intron_variant	0			BC008196	CCDS9280.1, CCDS53845.1	12q24.33	2011-07-28			ENSG00000247077	ENSG00000247077			28763	protein-coding gene	gene with protein product		614939				11283018	Standard	NM_001170543		Approved	MGC5352, BXLBv68	uc009zyv.3	Q96HS1	OTTHUMG00000168021	ENST00000498926.2:c.719+656T>C	12.37:g.133295362T>C			A9LN06|C9IZY7|Q96JB0	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1	p.L245S	ENST00000498926.2	37	c.734	CCDS53845.1	12	.	.	.	.	.	.	.	.	.	.	T	3.718	-0.058110	0.07317	.	.	ENSG00000247077	ENST00000317555	.	.	.	0.5	-1.0	0.10196	.	0.065845	0.64402	U	0.000008	T	0.23410	0.0566	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.08472	-1.0720	7	0.34782	T	0.22	.	.	.	.	.	245	Q96HS1-2	.	S	245	.	ENSP00000321503:L245S	L	+	2	0	PGAM5	131805435	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.818000	0.04467	-0.352000	0.08237	-0.569000	0.04157	TTG	PGAM5	-	NULL	ENSG00000247077		0.597	PGAM5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAM5	HGNC	protein_coding	OTTHUMT00000397562.1	-	0.00	72	0	T	NM_138575		133295362	+1	tier1	-	no_errors	ENST00000317555	ensembl	human	known	74_37	missense	34.21	25	13	SNP	0.003	C
PHF21A	51317	genome.wustl.edu	37	11	45992882	45992882	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr11:45992882T>C	ENST00000418153.2	-	7	596	c.397A>G	c.(397-399)Aca>Gca	p.T133A	PHF21A_ENST00000257821.4_Missense_Mutation_p.T133A|PHF21A_ENST00000323180.6_Missense_Mutation_p.T133A			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	133					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						AGAGGTAGTGTCTTTGTGGTA	0.438																																																	0													78.0	75.0	76.0					11																	45992882		2202	4299	6501	SO:0001583	missense	0			AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.397A>G	11.37:g.45992882T>C	ENSP00000398824:p.Thr133Ala		D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.T133A	ENST00000418153.2	37	c.397	CCDS44578.1	11	.	.	.	.	.	.	.	.	.	.	T	28.6	4.935038	0.92458	.	.	ENSG00000135365	ENST00000257821;ENST00000323180;ENST00000418153	D;D;D	0.96334	-3.48;-3.98;-3.49	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.97501	0.9182	M	0.61703	1.905	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.80764	0.98;0.994	D	0.97383	0.9984	10	0.40728	T	0.16	-7.6853	16.1596	0.81693	0.0:0.0:0.0:1.0	.	133;133	Q96BD5;Q96BD5-2	PF21A_HUMAN;.	A	133	ENSP00000257821:T133A;ENSP00000323152:T133A;ENSP00000398824:T133A	ENSP00000257821:T133A	T	-	1	0	PHF21A	45949458	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.464000	0.66719	2.216000	0.71823	0.533000	0.62120	ACA	PHF21A	-	NULL	ENSG00000135365		0.438	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF21A	HGNC	protein_coding	OTTHUMT00000392583.1	-	0.00	66	0	T	NM_016621		45992882	-1	tier1	-	no_errors	ENST00000257821	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	C
PHOX2B	8929	genome.wustl.edu	37	4	41749533	41749533	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr4:41749533C>A	ENST00000226382.2	-	2	621	c.262G>T	c.(262-264)Gac>Tac	p.D88Y	RP11-227F19.1_ENST00000508038.1_RNA|RP11-227F19.2_ENST00000510602.1_lincRNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	88					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CCGCCGTGGTCCGTGAAGAGT	0.577			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Rec	yes	familial neuroblastoma	4	4p12	8929	paired-like homeobox 2b	yes	O	0													66.0	67.0	67.0					4																	41749533		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"""Homeoboxes / PRD class"""	9143	protein-coding gene	gene with protein product		603851	"""paired mesoderm homeobox 2b"""	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.262G>T	4.37:g.41749533C>A	ENSP00000226382:p.Asp88Tyr		Q6PJD9	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1	p.D88Y	ENST00000226382.2	37	c.262	CCDS3463.1	4	.	.	.	.	.	.	.	.	.	.	C	14.07	2.427127	0.43122	.	.	ENSG00000109132	ENST00000226382	D	0.94417	-3.42	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.96071	0.8720	L	0.55481	1.735	0.80722	D	1	D	0.69078	0.997	P	0.62089	0.898	D	0.95466	0.8547	10	0.48119	T	0.1	.	19.366	0.94461	0.0:1.0:0.0:0.0	.	88	Q99453	PHX2B_HUMAN	Y	88	ENSP00000226382:D88Y	ENSP00000226382:D88Y	D	-	1	0	PHOX2B	41444290	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.245000	0.78237	2.797000	0.96272	0.655000	0.94253	GAC	PHOX2B	-	NULL	ENSG00000109132		0.577	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHOX2B	HGNC	protein_coding	OTTHUMT00000216832.2		0.00	77	0	C			41749533	-1			no_errors	ENST00000226382	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	A
PIEZO2	63895	genome.wustl.edu	37	18	10741063	10741064	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr18:10741063_10741064insT	ENST00000503781.3	-	31	4597_4598	c.4598_4599insA	c.(4597-4599)aagfs	p.K1533fs	PIEZO2_ENST00000302079.6_Frame_Shift_Ins_p.K1533fs|PIEZO2_ENST00000383408.2_3'UTR|PIEZO2_ENST00000580640.1_Frame_Shift_Ins_p.K1558fs	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	1533					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										GCCACCACTGCTTTTTTTTGCC	0.406																																																	0																																										SO:0001589	frameshift_variant	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.4599dupA	18.37:g.10741071_10741071dupT	ENSP00000421377:p.Lys1533fs		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Frame_Shift_Ins	INS	pfam_Piezo	p.Q1559fs	ENST00000503781.3	37	c.4674_4673		18																																																																																			PIEZO2	-	NULL	ENSG00000154864		0.406	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4		0.00	74	0	-	NM_022068		10741064	-1	tier1		no_errors	ENST00000580640	ensembl	human	novel	74_37	frame_shift_ins	7.89	35	3	INS	1.000:1.000	T
PITPNA	5306	genome.wustl.edu	37	17	1421325	1421325	+	3'UTR	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:1421325C>T	ENST00000313486.7	-	0	3598				INPP5K_ENST00000406424.4_5'Flank|INPP5K_ENST00000320345.6_5'Flank|INPP5K_ENST00000542125.1_5'Flank|INPP5K_ENST00000421807.2_5'Flank|INPP5K_ENST00000397335.3_5'Flank|PITPNA_ENST00000539476.1_3'UTR|PITPNA-AS1_ENST00000425081.2_RNA	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha						axon guidance (GO:0007411)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)|phosphatidylcholine transporter activity (GO:0008525)|phosphatidylinositol transporter activity (GO:0008526)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		TCTCAATATACCTGTATTGGA	0.338																																																	0																																										SO:0001624	3_prime_UTR_variant	0			M73704	CCDS45563.1	17p13.3	2012-06-29	2003-05-09	2004-09-03	ENSG00000174238	ENSG00000174238			9001	protein-coding gene	gene with protein product		600174	"""phosphotidylinositol transfer protein"""	PITPN		8255295	Standard	NM_006224		Approved	VIB1A	uc021tnf.1	Q00169	OTTHUMG00000177779	ENST00000313486.7:c.*2530G>A	17.37:g.1421325C>T				RNA	SNP	-	NULL	ENST00000313486.7	37	NULL	CCDS45563.1	17																																																																																			PITPNA-AS1	-	-	ENSG00000236618		0.338	PITPNA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNA-AS1	HGNC	protein_coding	OTTHUMT00000438927.3	-	0.00	127	0	C			1421325	+1	tier1	-	no_errors	ENST00000425081	ensembl	human	known	74_37	rna	5.19	73	4	SNP	1.000	T
PIK3R5	23533	genome.wustl.edu	37	17	8793372	8793372	+	Silent	SNP	G	G	A	rs200469610	byFrequency	TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:8793372G>A	ENST00000447110.1	-	8	853	c.729C>T	c.(727-729)atC>atT	p.I243I	PIK3R5_ENST00000581552.1_Silent_p.I243I|PIK3R5_ENST00000584803.1_Silent_p.I243I	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	243				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CAGCATCCCCGATGCCAGATG	0.622																																					NSCLC(18;589 615 7696 20311 50332)												0													73.0	70.0	71.0					17																	8793372		2203	4300	6503	SO:0001819	synonymous_variant	0			AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.729C>T	17.37:g.8793372G>A			B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	pfam_PI3K_1B_gamma_p101_su	p.S185L	ENST00000447110.1	37	c.554	CCDS11147.1	17																																																																																			PIK3R5	-	NULL	ENSG00000141506		0.622	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PIK3R5	HGNC	protein_coding	OTTHUMT00000227003.2	-	0.00	95	0	G	NM_014308		8793372	-1	tier1	-	no_errors	ENST00000269300	ensembl	human	known	74_37	missense	60.00	16	24	SNP	0.107	A
PNLIPRP3	119548	genome.wustl.edu	37	10	118220679	118220679	+	Splice_Site	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:118220679G>T	ENST00000369230.3	+	7	831		c.e7-1			NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3						lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		ATTTATTTCAGGTGTTGGAAC	0.378																																																	0													180.0	173.0	176.0					10																	118220679		2203	4300	6503	SO:0001630	splice_region_variant	0			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.686-1G>T	10.37:g.118220679G>T				Splice_Site	SNP	-	e7-1	ENST00000369230.3	37	c.686-1	CCDS31292.1	10	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846133	0.51164	.	.	ENSG00000203837	ENST00000369230	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.318	0.90227	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PNLIPRP3	118210669	1.000000	0.71417	0.992000	0.48379	0.323000	0.28346	4.725000	0.61979	2.561000	0.86390	0.591000	0.81541	.	PNLIPRP3	-	-	ENSG00000203837		0.378	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNLIPRP3	HGNC	protein_coding	OTTHUMT00000050520.1	-	0.00	141	0	G	XM_058404	Intron	118220679	+1	tier1	-	no_errors	ENST00000369230	ensembl	human	known	74_37	splice_site	5.21	91	5	SNP	1.000	T
POT1	25913	genome.wustl.edu	37	7	124532386	124532386	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr7:124532386C>A	ENST00000357628.3	-	6	656	c.58G>T	c.(58-60)Ggt>Tgt	p.G20C	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	20					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ACAATTGTACCACCCTTAAGT	0.353																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)												0													155.0	167.0	163.0					7																	124532386		2203	4300	6503	SO:0001583	missense	0			AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.58G>T	7.37:g.124532386C>A	ENSP00000350249:p.Gly20Cys		O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13	p.G20C	ENST00000357628.3	37	c.58	CCDS5793.1	7	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162952	0.78226	.	.	ENSG00000128513	ENST00000357628;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391;ENST00000446993	T	0.54479	0.57	5.7	5.7	0.88788	Nucleic acid-binding, OB-fold-like (1);Telomere end binding protein (2);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.73418	0.3584	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75731	-0.3215	10	0.87932	D	0	1.8003	17.3235	0.87241	0.0:1.0:0.0:0.0	.	20	Q9NUX5	POTE1_HUMAN	C	20;20;20;20;19;20	ENSP00000350249:G20C	ENSP00000265391:G19C	G	-	1	0	POT1	124319622	0.993000	0.37304	0.657000	0.29651	0.978000	0.69477	4.974000	0.63771	2.697000	0.92050	0.557000	0.71058	GGT	POT1	-	pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13	ENSG00000128513		0.353	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POT1	HGNC	protein_coding	OTTHUMT00000347861.1	-	0.00	130	0	C			124532386	-1	tier1	-	no_errors	ENST00000357628	ensembl	human	known	74_37	missense	6.80	96	7	SNP	0.965	A
PPP2R3C	55012	genome.wustl.edu	37	14	35564324	35564324	+	Missense_Mutation	SNP	C	C	T	rs377037544		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr14:35564324C>T	ENST00000261475.5	-	10	1258	c.905G>A	c.(904-906)gGa>gAa	p.G302E		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	302	EF-hand 1.				activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		GGTAGCTGTTCCATAGCGTGA	0.388																																																	0													133.0	120.0	124.0					14																	35564324		2203	4300	6503	SO:0001583	missense	0			AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	17485	protein-coding gene	gene with protein product		615902	"""chromosome 14 open reading frame 10"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"""	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.905G>A	14.37:g.35564324C>T	ENSP00000261475:p.Gly302Glu		B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Missense_Mutation	SNP	NULL	p.G302E	ENST00000261475.5	37	c.905	CCDS9654.1	14	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695649	0.88830	.	.	ENSG00000092020	ENST00000261475;ENST00000555219	T;T	0.73047	-0.71;-0.27	5.25	4.36	0.52297	EF-hand-like domain (1);	0.050601	0.85682	N	0.000000	D	0.83543	0.5277	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.85462	0.1167	10	0.56958	D	0.05	-7.1172	14.1201	0.65182	0.0:0.9271:0.0:0.0729	.	302	Q969Q6	P2R3C_HUMAN	E	302;23	ENSP00000261475:G302E;ENSP00000452173:G23E	ENSP00000261475:G302E	G	-	2	0	PPP2R3C	34634075	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.729000	0.84864	1.351000	0.45789	0.655000	0.94253	GGA	PPP2R3C	-	NULL	ENSG00000092020		0.388	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3C	HGNC	protein_coding	OTTHUMT00000276687.1		0.00	84	0	C	NM_017917		35564324	-1			no_errors	ENST00000261475	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T
PPWD1	23398	genome.wustl.edu	37	5	64878949	64878949	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:64878949A>G	ENST00000261308.5	+	8	1507	c.1435A>G	c.(1435-1437)Atg>Gtg	p.M479V	PPWD1_ENST00000535264.1_Missense_Mutation_p.M449V|PPWD1_ENST00000538977.1_Missense_Mutation_p.M323V	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	479					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		AGAAGAAGTCATGGCAGCTAC	0.418																																																	0													143.0	138.0	140.0					5																	64878949		2203	4300	6503	SO:0001583	missense	0			AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"""WD repeat domain containing"""	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.1435A>G	5.37:g.64878949A>G	ENSP00000261308:p.Met479Val		B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,pfam_WD40_repeat,superfamily_Cyclophilin-like_PPIase_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M479V	ENST00000261308.5	37	c.1435	CCDS3985.1	5	.	.	.	.	.	.	.	.	.	.	A	15.22	2.767411	0.49574	.	.	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000538977	T;T;T	0.60672	0.17;0.36;2.01	5.84	5.84	0.93424	Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.51261	0.1664	L	0.45137	1.4	0.80722	D	1	B;B	0.23990	0.095;0.057	B;B	0.23574	0.047;0.01	T	0.44452	-0.9327	10	0.25751	T	0.34	.	16.2169	0.82237	1.0:0.0:0.0:0.0	.	449;479	F5H7P7;Q96BP3	.;PPWD1_HUMAN	V	479;449;323	ENSP00000261308:M479V;ENSP00000442371:M449V;ENSP00000444496:M323V	ENSP00000261308:M479V	M	+	1	0	PPWD1	64914705	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.831000	0.92068	2.223000	0.72356	0.533000	0.62120	ATG	PPWD1	-	superfamily_Cyclophilin-like_PPIase_dom	ENSG00000113593		0.418	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPWD1	HGNC	protein_coding	OTTHUMT00000253970.2	-	0.00	123	0	A	NM_015342		64878949	+1	tier1	-	no_errors	ENST00000261308	ensembl	human	known	74_37	missense	59.68	25	37	SNP	1.000	G
PRAMEF2	65122	genome.wustl.edu	37	1	12919952	12919952	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:12919952T>A	ENST00000240189.2	+	3	779	c.692T>A	c.(691-693)aTg>aAg	p.M231K		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	231					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGAAGGAGATGAAGACTCTT	0.408																																																	0													109.0	114.0	112.0					1																	12919952		2203	4299	6502	SO:0001583	missense	0				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.692T>A	1.37:g.12919952T>A	ENSP00000240189:p.Met231Lys			Missense_Mutation	SNP	NULL	p.M231K	ENST00000240189.2	37	c.692	CCDS149.1	1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.658586	0.29515	.	.	ENSG00000120952	ENST00000240189	T	0.01005	5.45	0.842	0.842	0.18927	.	0.114832	0.64402	D	0.000013	T	0.04724	0.0128	M	0.90483	3.12	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.14952	-1.0454	10	0.87932	D	0	.	3.9732	0.09462	0.0:0.0:0.0:1.0	.	231	O60811	PRAM2_HUMAN	K	231	ENSP00000240189:M231K	ENSP00000240189:M231K	M	+	2	0	PRAMEF2	12842539	0.011000	0.17503	0.034000	0.17996	0.065000	0.16274	0.062000	0.14389	0.633000	0.30452	0.163000	0.16589	ATG	PRAMEF2	-	NULL	ENSG00000120952		0.408	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	HGNC	protein_coding	OTTHUMT00000005517.1	-	0.00	359	0	T	NM_023014		12919952	+1	tier1	-	no_errors	ENST00000240189	ensembl	human	known	74_37	missense	5.62	168	10	SNP	0.041	A
PREPL	9581	genome.wustl.edu	37	2	44559740	44559740	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:44559740C>A	ENST00000409936.1	-	9	1648	c.1211G>T	c.(1210-1212)tGc>tTc	p.C404F	PREPL_ENST00000260648.6_Missense_Mutation_p.C404F|PREPL_ENST00000409411.1_Missense_Mutation_p.C315F|PREPL_ENST00000409957.1_Missense_Mutation_p.C315F|PREPL_ENST00000541738.1_Missense_Mutation_p.C315F|PREPL_ENST00000410081.1_Missense_Mutation_p.C404F|PREPL_ENST00000378520.3_Intron|PREPL_ENST00000409272.1_Missense_Mutation_p.C404F|PREPL_ENST00000378511.3_Missense_Mutation_p.C342F	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	404						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTGAAAGGGGCAGTTCTTTGG	0.413																																																	0													119.0	119.0	119.0					2																	44559740		2203	4300	6503	SO:0001583	missense	0			AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.1211G>T	2.37:g.44559740C>A	ENSP00000386543:p.Cys404Phe		A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Missense_Mutation	SNP	pfam_Peptidase_S9,pfam_Pept_S9A_N,prints_Peptidase_S9A	p.C404F	ENST00000409936.1	37	c.1211	CCDS33190.1	2	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322874	0.23994	.	.	ENSG00000138078	ENST00000541738;ENST00000409411;ENST00000409957;ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378511	T;T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14;1.14	5.83	5.83	0.93111	Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (2);	0.270105	0.38436	N	0.001686	T	0.48696	0.1514	N	0.19112	0.55	0.43703	D	0.996166	D;B	0.60575	0.988;0.017	D;B	0.77004	0.989;0.009	T	0.49854	-0.8895	10	0.56958	D	0.05	-11.3099	20.115	0.97926	0.0:1.0:0.0:0.0	.	342;404	Q4J6C6-3;Q4J6C6	.;PPCEL_HUMAN	F	315;315;315;404;404;404;404;342	ENSP00000439626:C315F;ENSP00000387095:C315F;ENSP00000387241:C315F;ENSP00000386543:C404F;ENSP00000260648:C404F;ENSP00000386909:C404F;ENSP00000386509:C404F	ENSP00000260648:C404F	C	-	2	0	PREPL	44413244	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.158000	0.58150	2.761000	0.94854	0.650000	0.86243	TGC	PREPL	-	pfam_Pept_S9A_N	ENSG00000138078		0.413	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PREPL	HGNC	protein_coding	OTTHUMT00000327900.1	-	0.00	94	0	C	NM_006036		44559740	-1	tier1	-	no_errors	ENST00000260648	ensembl	human	known	74_37	missense	40.68	34	24	SNP	1.000	A
PRSS36	146547	genome.wustl.edu	37	16	31151942	31151942	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:31151942delG	ENST00000268281.4	-	13	2096	c.2038delC	c.(2038-2040)ctgfs	p.L680fs	PRSS36_ENST00000569305.1_Frame_Shift_Del_p.L675fs|PRSS36_ENST00000418068.2_Intron	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	680	Peptidase S1 3. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						AGGAGGGCCAGGGGGGGCCTG	0.726																																																	0													15.0	20.0	19.0					16																	31151942		2194	4288	6482	SO:0001589	frameshift_variant	0			AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.2038delC	16.37:g.31151942delG	ENSP00000268281:p.Leu680fs		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Frame_Shift_Del	DEL	pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.L680fs	ENST00000268281.4	37	c.2038	CCDS32436.1	16																																																																																			PRSS36	-	pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000178226		0.726	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRSS36	HGNC	protein_coding	OTTHUMT00000433542.1		0.00	52	0	G	NM_173502		31151942	-1	tier1		no_errors	ENST00000268281	ensembl	human	known	74_37	frame_shift_del	8.33	33	3	DEL	0.448	-
PTCH2	8643	genome.wustl.edu	37	1	45293815	45293815	+	Missense_Mutation	SNP	G	G	T	rs368278021		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:45293815G>T	ENST00000372192.3	-	14	1888	c.1758C>A	c.(1756-1758)gaC>gaA	p.D586E	PTCH2_ENST00000447098.2_Missense_Mutation_p.D586E	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	586					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)	p.D586D(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GTACTGTCCCGTCCCCCAGCT	0.587									Basal Cell Nevus syndrome																																								1	Substitution - coding silent(1)	cervix(1)											69.0	74.0	72.0					1																	45293815		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1758C>A	1.37:g.45293815G>T	ENSP00000361266:p.Asp586Glu		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.D586E	ENST00000372192.3	37	c.1758	CCDS516.1	1	.	.	.	.	.	.	.	.	.	.	G	1.217	-0.628045	0.03610	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.92348	-3.01;-3.02	5.04	-10.1	0.00402	.	0.391902	0.21661	N	0.071019	T	0.77267	0.4105	N	0.22421	0.69	0.19945	N	0.99994	B;B	0.06786	0.001;0.0	B;B	0.13407	0.009;0.005	T	0.64613	-0.6366	10	0.19147	T	0.46	-5.6378	5.5739	0.17212	0.2596:0.2434:0.4205:0.0764	.	586;586	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	E	586	ENSP00000389703:D586E;ENSP00000361266:D586E	ENSP00000361266:D586E	D	-	3	2	PTCH2	45066402	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-3.820000	0.00358	-1.945000	0.01036	-0.484000	0.04775	GAC	PTCH2	-	pfam_Patched,tigrfam_TM_rcpt_patched	ENSG00000117425		0.587	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCH2	HGNC	protein_coding	OTTHUMT00000023428.4		0.00	49	0	G	NM_003738		45293815	-1			no_errors	ENST00000372192	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.000	T
PTGS2	5743	genome.wustl.edu	37	1	186643414	186643414	+	3'UTR	SNP	T	T	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:186643414T>C	ENST00000367468.5	-	0	2022				PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)						anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	AGGAGtttaatataaatatta	0.289																																																	0																																										SO:0001624	3_prime_UTR_variant	0			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.*71A>G	1.37:g.186643414T>C			A8K802|Q16876	RNA	SNP	-	NULL	ENST00000367468.5	37	NULL	CCDS1371.1	1																																																																																			PTGS2	-	-	ENSG00000073756		0.289	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS2	HGNC	protein_coding	OTTHUMT00000086157.2	-	0.00	58	0	T	NM_000963		186643414	-1	tier1	-	no_errors	ENST00000490885	ensembl	human	known	74_37	rna	40.54	22	15	SNP	0.327	C
PTPRT	11122	genome.wustl.edu	37	20	41306627	41306627	+	Missense_Mutation	SNP	G	G	T	rs202093079	byFrequency	TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr20:41306627G>T	ENST00000373187.1	-	7	1031	c.1032C>A	c.(1030-1032)aaC>aaA	p.N344K	PTPRT_ENST00000373201.1_Missense_Mutation_p.N344K|PTPRT_ENST00000373193.3_Missense_Mutation_p.N344K|PTPRT_ENST00000373184.1_Missense_Mutation_p.N344K|PTPRT_ENST00000356100.2_Missense_Mutation_p.N344K|PTPRT_ENST00000373190.1_Missense_Mutation_p.N344K|PTPRT_ENST00000373198.4_Missense_Mutation_p.N344K			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	344	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACAGCTTATAGTTGGGAGAGT	0.592																																																	0								G	LYS/ASN,LYS/ASN	0,4030		0,0,2015	146.0	150.0	149.0		1032,1032	4.5	1.0	20		149	2,8340		0,2,4169	yes	missense,missense	PTPRT	NM_007050.5,NM_133170.3	94,94	0,2,6184	TT,TG,GG		0.024,0.0,0.0162	benign,benign	344/1442,344/1461	41306627	2,12370	2015	4171	6186	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1032C>A	20.37:g.41306627G>T	ENSP00000362283:p.Asn344Lys		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.N344K	ENST00000373187.1	37	c.1032	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451396	0.43531	0.0	2.4E-4	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	5.42	4.46	0.54185	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.056675	0.64402	D	0.000002	T	0.69260	0.3091	L	0.29908	0.895	0.35631	D	0.810191	B;B	0.31730	0.337;0.263	B;B	0.36766	0.149;0.232	T	0.74097	-0.3775	10	0.87932	D	0	.	4.8177	0.13374	0.1632:0.2049:0.6319:0.0	.	344;344	O14522-1;O14522	.;PTPRT_HUMAN	K	344	ENSP00000362286:N344K;ENSP00000362283:N344K;ENSP00000362289:N344K;ENSP00000348408:N344K;ENSP00000362294:N344K;ENSP00000362280:N344K;ENSP00000362297:N344K	ENSP00000348408:N344K	N	-	3	2	PTPRT	40740041	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	1.261000	0.32980	2.705000	0.92388	0.655000	0.94253	AAC	PTPRT	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000196090		0.592	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	-	0.00	90	0	G			41306627	-1	tier1	rs202093079	no_errors	ENST00000373198	ensembl	human	known	74_37	missense	49.06	27	26	SNP	1.000	T
PTPRT	11122	genome.wustl.edu	37	20	41400075	41400075	+	Splice_Site	SNP	C	C	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr20:41400075C>A	ENST00000373187.1	-	5	683	c.684G>T	c.(682-684)caG>caT	p.Q228H	PTPRT_ENST00000373201.1_Splice_Site_p.Q228H|PTPRT_ENST00000373193.3_Splice_Site_p.Q228H|PTPRT_ENST00000373184.1_Splice_Site_p.Q228H|PTPRT_ENST00000356100.2_Splice_Site_p.Q228H|PTPRT_ENST00000373190.1_Splice_Site_p.Q228H|PTPRT_ENST00000373198.4_Splice_Site_p.Q228H			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	228	Ig-like C2-type.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.Q228H(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCATGCTTACCTGGAGCCAAA	0.493																																																	1	Substitution - Missense(1)	endometrium(1)											169.0	155.0	159.0					20																	41400075		2027	4204	6231	SO:0001630	splice_region_variant	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.684+1G>T	20.37:g.41400075C>A			A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.Q228H	ENST00000373187.1	37	c.684	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172509	0.78452	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.45	4.47	0.54385	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.138395	0.50627	D	0.000106	T	0.53786	0.1818	M	0.65975	2.015	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.55055	-0.8200	9	.	.	.	.	16.1525	0.81632	0.0:0.8661:0.1339:0.0	.	228;228	O14522-1;O14522	.;PTPRT_HUMAN	H	228	ENSP00000362286:Q228H;ENSP00000362283:Q228H;ENSP00000362289:Q228H;ENSP00000348408:Q228H;ENSP00000362294:Q228H;ENSP00000362280:Q228H;ENSP00000362297:Q228H	.	Q	-	3	2	PTPRT	40833489	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	7.385000	0.79763	1.361000	0.45981	0.650000	0.86243	CAG	PTPRT	-	pfscan_Ig-like_dom	ENSG00000196090		0.493	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1		0.00	58	0	C		Missense_Mutation	41400075	-1			no_errors	ENST00000373198	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	A
PTX4	390667	genome.wustl.edu	37	16	1536208	1536208	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:1536208C>T	ENST00000447419.2	-	3	1194	c.1169G>A	c.(1168-1170)aGg>aAg	p.R390K	PTX4_ENST00000293922.1_Missense_Mutation_p.R385K|PTX4_ENST00000440447.2_3'UTR			Q96A99	PTX4_HUMAN	pentraxin 4, long	390	Pentaxin.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						ATAGCCCTCCCTGAAGCGGGA	0.677																																																	0													25.0	27.0	27.0					16																	1536208		2199	4299	6498	SO:0001583	missense	0				CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.1169G>A	16.37:g.1536208C>T	ENSP00000445277:p.Arg390Lys			Missense_Mutation	SNP	pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.R390K	ENST00000447419.2	37	c.1169		16	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745982	0.30955	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05319	3.46;3.46	5.45	4.5	0.54988	.	0.080768	0.48286	D	0.000196	T	0.04815	0.0130	L	0.33668	1.02	0.30741	N	0.746208	B	0.24651	0.108	B	0.26864	0.074	T	0.20140	-1.0284	10	0.13108	T	0.6	.	7.3822	0.26862	0.0:0.8198:0.0:0.1802	.	385	Q96A99-2	.	K	390;385	ENSP00000445277:R390K;ENSP00000293922:R385K	ENSP00000293922:R385K	R	-	2	0	PTX4	1476209	1.000000	0.71417	0.992000	0.48379	0.294000	0.27393	1.157000	0.31724	2.569000	0.86673	0.563000	0.77884	AGG	PTX4	-	pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	ENSG00000251692		0.677	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PTX4	HGNC	protein_coding	OTTHUMT00000432526.1	-	0.00	105	0	C	NM_001013658		1536208	-1	tier1	-	no_errors	ENST00000447419	ensembl	human	known	74_37	missense	34.62	34	18	SNP	0.996	T
RANBP6	26953	genome.wustl.edu	37	9	6012690	6012690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr9:6012690delT	ENST00000259569.5	-	1	2928	c.2918delA	c.(2917-2919)aatfs	p.N973fs	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	973					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.N973fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AGCAATGACATTTTTTTTGGT	0.358																																																	1	Deletion - Frameshift(1)	ovary(1)											109.0	102.0	104.0					9																	6012690		2203	4300	6503	SO:0001589	frameshift_variant	0			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2918delA	9.37:g.6012690delT	ENSP00000259569:p.Asn973fs		Q5T7X4|Q7Z3V2|Q96E78	Frame_Shift_Del	DEL	pfam_HEAT,superfamily_ARM-type_fold	p.N973fs	ENST00000259569.5	37	c.2918	CCDS6467.1	9																																																																																			RANBP6	-	superfamily_ARM-type_fold	ENSG00000137040		0.358	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP6	HGNC	protein_coding	OTTHUMT00000051650.1		0.00	54	0	T	NM_012416		6012690	-1	tier1		no_errors	ENST00000259569	ensembl	human	known	74_37	frame_shift_del	7.14	26	2	DEL	1.000	-
RASL11B	65997	genome.wustl.edu	37	4	53730489	53730490	+	3'UTR	INS	-	-	A	rs560225295|rs549971574	byFrequency	TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr4:53730489_53730490insA	ENST00000505041.1	+	0	177_178				RASL11B_ENST00000248706.3_Intron					RAS-like, family 11, member B											autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			TGTTGTTTTTTAAAAAAAATCT	0.282																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BK001672	CCDS3490.1	4q12	2014-05-09			ENSG00000128045	ENSG00000128045			23804	protein-coding gene	gene with protein product		612404					Standard	NM_023940		Approved		uc003gzt.3	Q9BPW5	OTTHUMG00000102097	ENST00000505041.1:c.*175->A	4.37:g.53730497_53730497dupA				RNA	INS	-	NULL	ENST00000505041.1	37	NULL		4																																																																																			RASL11B	-	-	ENSG00000128045		0.282	RASL11B-002	KNOWN	basic	processed_transcript	RASL11B	HGNC	protein_coding	OTTHUMT00000361312.1		0.00	27	0	-	NM_023940		53730490	+1	tier1		no_errors	ENST00000505041	ensembl	human	known	74_37	rna	14.29	12	2	INS	0.001:0.000	A
RGPD4	285190	genome.wustl.edu	37	2	108488905	108488905	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:108488905G>A	ENST00000408999.3	+	20	4522	c.4445G>A	c.(4444-4446)aGc>aAc	p.S1482N	RGPD4_ENST00000354986.4_Missense_Mutation_p.S1482N	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1482					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCTCGGTCAAGCACTCCCAGA	0.403																																																	0													1.0	1.0	1.0					2																	108488905		267	557	824	SO:0001583	missense	0			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4445G>A	2.37:g.108488905G>A	ENSP00000386810:p.Ser1482Asn		B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.S1482N	ENST00000408999.3	37	c.4445	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	0.013	-1.642391	0.00799	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.38401	1.14;1.14	2.33	0.356	0.16074	.	.	.	.	.	T	0.17959	0.0431	N	0.25647	0.755	0.09310	N	1	B	0.18461	0.028	B	0.10450	0.005	T	0.26780	-1.0093	9	0.12103	T	0.63	5.6964	1.8265	0.03122	0.1562:0.4232:0.2595:0.1611	.	1482	Q7Z3J3	RGPD4_HUMAN	N	1482	ENSP00000347081:S1482N;ENSP00000386810:S1482N	ENSP00000347081:S1482N	S	+	2	0	RGPD4	107855337	0.000000	0.05858	0.487000	0.27428	0.609000	0.37215	-0.022000	0.12480	0.288000	0.22398	0.162000	0.16502	AGC	RGPD4	-	NULL	ENSG00000196862		0.403	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	-	0.00	57	0	G	XM_496581		108488905	+1	tier1	-	no_errors	ENST00000354986	ensembl	human	known	74_37	missense	34.29	23	12	SNP	0.001	A
RHOF	54509	genome.wustl.edu	37	12	122219079	122219079	+	Silent	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:122219079C>T	ENST00000267205.2	-	3	874	c.246G>A	c.(244-246)cgG>cgA	p.R82R	RHOF_ENST00000537265.1_5'UTR|RHOF_ENST00000537171.1_Silent_p.R82R|TMEM120B_ENST00000449592.2_3'UTR|TMEM120B_ENST00000538055.1_Intron	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)	82					actin filament organization (GO:0007015)|GTP catabolic process (GO:0006184)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GGGGCCGCAGCCGGTCATAGT	0.617																																																	0													98.0	93.0	95.0					12																	122219079		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000254	CCDS9222.1	12q24.31	2013-09-23	2012-02-27	2004-03-24	ENSG00000139725	ENSG00000139725			15703	protein-coding gene	gene with protein product			"""ras homolog gene family, member F (in filopodia)"""	ARHF		11084341	Standard	NM_019034		Approved	FLJ20247, RIF	uc001ubb.3	Q9HBH0	OTTHUMG00000169077	ENST00000267205.2:c.246G>A	12.37:g.122219079C>T			Q8WVB1|Q9NXH6	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R82	ENST00000267205.2	37	c.246	CCDS9222.1	12																																																																																			RHOF	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000139725		0.617	RHOF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOF	HGNC	protein_coding	OTTHUMT00000402165.1	-	0.00	71	0	C			122219079	-1	tier1	-	no_errors	ENST00000267205	ensembl	human	known	74_37	silent	8.93	51	5	SNP	0.965	T
RICTOR	253260	genome.wustl.edu	37	5	38949966	38949966	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:38949966delA	ENST00000357387.3	-	31	4014	c.3984delT	c.(3982-3984)tttfs	p.F1328fs	RICTOR_ENST00000296782.5_Frame_Shift_Del_p.F1328fs	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TAGCATAGCCAAAAGCATCTC	0.403																																																	0													151.0	144.0	146.0					5																	38949966		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.3984delT	5.37:g.38949966delA	ENSP00000349959:p.Phe1328fs			Frame_Shift_Del	DEL	superfamily_ARM-type_fold	p.F1328fs	ENST00000357387.3	37	c.3984	CCDS34148.1	5																																																																																			RICTOR	-	NULL	ENSG00000164327		0.403	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1		0.00	42	0	A	NM_152756		38949966	-1	tier1		no_errors	ENST00000296782	ensembl	human	known	74_37	frame_shift_del	5.56	34	2	DEL	1.000	-
RNF149	284996	genome.wustl.edu	37	2	101911541	101911541	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:101911541C>T	ENST00000295317.3	-	2	670	c.563G>A	c.(562-564)gGc>gAc	p.G188D		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	188					cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						ATGCCGGGTGCCAACCCCTAT	0.438																																					Colon(25;331 612 6521 7355 31028)												0													150.0	138.0	142.0					2																	101911541		2203	4300	6503	SO:0001583	missense	0			AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"""RING-type (C3HC4) zinc fingers"""	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.563G>A	2.37:g.101911541C>T	ENSP00000295317:p.Gly188Asp		Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.G188D	ENST00000295317.3	37	c.563	CCDS2051.1	2	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560050	0.65538	.	.	ENSG00000163162	ENST00000295317	T	0.08008	3.14	5.26	5.26	0.73747	.	0.092412	0.45867	D	0.000327	T	0.33673	0.0871	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.11567	-1.0582	10	0.87932	D	0	.	18.8805	0.92354	0.0:1.0:0.0:0.0	.	188	Q8NC42	RN149_HUMAN	D	188	ENSP00000295317:G188D	ENSP00000295317:G188D	G	-	2	0	RNF149	101277973	1.000000	0.71417	0.801000	0.32222	0.120000	0.20174	7.711000	0.84669	2.446000	0.82766	0.591000	0.81541	GGC	RNF149	-	NULL	ENSG00000163162		0.438	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF149	HGNC	protein_coding	OTTHUMT00000253180.2	-	0.00	88	0	C	NM_173647		101911541	-1	tier1	-	no_errors	ENST00000295317	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T
ROCK1P1	727758	genome.wustl.edu	37	18	121622	121623	+	RNA	INS	-	-	T	rs561538599		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr18:121622_121623insT	ENST00000608049.1	+	0	1860_1861					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		TGGGGGTTGCATTGTCCTTTTA	0.272																																																	0																																												0					18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.121624_121624dupT				RNA	INS	-	NULL	ENST00000608049.1	37	NULL		18																																																																																			ROCK1P1	-	-	ENSG00000263006		0.272	ROCK1P1-003	KNOWN	basic	processed_transcript	ROCK1P1	HGNC	pseudogene	OTTHUMT00000472417.1		0.00	75	0	-			121623	+1	tier1		no_errors	ENST00000608049	ensembl	human	known	74_37	rna	37.74	33	20	INS	0.999:1.000	T
ROGDI	79641	genome.wustl.edu	37	16	4848675	4848675	+	Intron	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:4848675G>T	ENST00000322048.7	-	7	811				ROGDI_ENST00000586336.1_Intron|RP11-127I20.5_ENST00000592465.1_RNA	NM_024589.2	NP_078865.1	Q9GZN7	ROGDI_HUMAN	rogdi homolog (Drosophila)						hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)	intracellular (GO:0005622)|nucleus (GO:0005634)				endometrium(2)|lung(1)|ovary(1)|skin(1)	5						TCAGCTGCAGGGAGAGGCGGG	0.657																																																	0													23.0	21.0	22.0					16																	4848675		2175	4274	6449	SO:0001627	intron_variant	0			AK026039	CCDS10523.1	16p13.3	2014-09-17			ENSG00000067836	ENSG00000067836			29478	protein-coding gene	gene with protein product		614574				11230166	Standard	NM_024589		Approved	FLJ22386	uc002cxv.4	Q9GZN7	OTTHUMG00000129479	ENST00000322048.7:c.433-7C>A	16.37:g.4848675G>T			Q6IA00	Missense_Mutation	SNP	pfam_RAVE2/Rogdi	p.P147T	ENST00000322048.7	37	c.439	CCDS10523.1	16																																																																																			ROGDI	-	NULL	ENSG00000067836		0.657	ROGDI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROGDI	HGNC	protein_coding	OTTHUMT00000251643.3	-	0.00	144	0	G	NM_024589		4848675	-1	tier1	-	no_errors	ENST00000587377	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.078	T
RTN1	6252	genome.wustl.edu	37	14	60194151	60194151	+	Silent	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr14:60194151G>A	ENST00000267484.5	-	3	1586	c.1251C>T	c.(1249-1251)tcC>tcT	p.S417S		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	417					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TGGGGTCCTCGGACACCAGCT	0.716																																																	0													15.0	14.0	14.0					14																	60194151		2167	4201	6368	SO:0001819	synonymous_variant	0			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1251C>T	14.37:g.60194151G>A			Q16800|Q16801|Q5BKZ4|Q9BQ59	Silent	SNP	pfam_Reticulon,pfscan_Reticulon	p.S417	ENST00000267484.5	37	c.1251	CCDS9740.1	14																																																																																			RTN1	-	NULL	ENSG00000139970		0.716	RTN1-001	KNOWN	basic|CCDS	protein_coding	RTN1	HGNC	protein_coding	OTTHUMT00000072278.2		0.00	30	0	G			60194151	-1			no_errors	ENST00000267484	ensembl	human	known	74_37	silent	12.00	22	3	SNP	0.097	A
SERPINE2	5270	genome.wustl.edu	37	2	224862917	224862917	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:224862917G>T	ENST00000258405.4	-	3	644	c.402C>A	c.(400-402)ttC>ttA	p.F134L	SERPINE2_ENST00000447280.2_Missense_Mutation_p.F146L|SERPINE2_ENST00000409840.3_Missense_Mutation_p.F134L|SERPINE2_ENST00000409304.1_Missense_Mutation_p.F134L	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	134					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CCTCACACTGGAACACATCTT	0.453																																																	0													112.0	100.0	104.0					2																	224862917		2203	4300	6503	SO:0001583	missense	0			M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.402C>A	2.37:g.224862917G>T	ENSP00000258405:p.Phe134Leu		B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.F134L	ENST00000258405.4	37	c.402	CCDS2460.1	2	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195928	0.58126	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	5.92	-4.9	0.03094	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.91088	0.7195	M	0.86651	2.83	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.89958	0.4084	10	0.87932	D	0	.	13.5909	0.61959	0.4898:0.0:0.5102:0.0	.	146;134	B4DIF2;P07093	.;GDN_HUMAN	L	134;134;134;146;134	ENSP00000386412:F134L;ENSP00000258405:F134L;ENSP00000386969:F134L;ENSP00000415786:F146L;ENSP00000408452:F134L	ENSP00000258405:F134L	F	-	3	2	SERPINE2	224571161	0.999000	0.42202	0.873000	0.34254	0.244000	0.25665	0.730000	0.26043	-1.218000	0.02601	-0.781000	0.03364	TTC	SERPINE2	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000135919		0.453	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SERPINE2	HGNC	protein_coding	OTTHUMT00000256865.2	-	0.00	107	0	G	NM_006216		224862917	-1	tier1	-	no_errors	ENST00000258405	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.967	T
SGK223	157285	genome.wustl.edu	37	8	8185637	8185637	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr8:8185637T>A	ENST00000520004.1	-	5	2919	c.2655A>T	c.(2653-2655)aaA>aaT	p.K885N	SGK223_ENST00000330777.4_Missense_Mutation_p.K885N			Q86YV5	SG223_HUMAN		887							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GGCCACTGCCTTTGAAAGCTT	0.627																																					GBM(34;731 755 10259 33573 33867)												0													109.0	118.0	115.0					8																	8185637		1888	4098	5986	SO:0001583	missense	0																														ENST00000520004.1:c.2655A>T	8.37:g.8185637T>A	ENSP00000428054:p.Lys885Asn		Q8N3N5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.K885N	ENST00000520004.1	37	c.2655	CCDS43706.1	8	.	.	.	.	.	.	.	.	.	.	T	14.36	2.512293	0.44660	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.58797	0.31;0.31	4.44	-0.627	0.11541	.	0.496774	0.19600	N	0.110411	T	0.45975	0.1369	L	0.51422	1.61	0.30078	N	0.809466	P	0.44734	0.842	B	0.39531	0.302	T	0.50171	-0.8859	10	0.56958	D	0.05	.	8.9504	0.35785	0.0:0.3054:0.0:0.6946	.	885	Q86YV5	SG223_HUMAN	N	885	ENSP00000330930:K885N;ENSP00000428054:K885N	ENSP00000330930:K885N	K	-	3	2	AC068353.1	8223047	1.000000	0.71417	0.990000	0.47175	0.470000	0.32858	1.609000	0.36858	-0.088000	0.12506	-0.376000	0.06991	AAA	SGK223	-	NULL	ENSG00000182319		0.627	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK223	Uniprot_gn	protein_coding	OTTHUMT00000374864.1	-	0.00	103	0	T			8185637	-1	tier1	-	no_errors	ENST00000330777	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.995	A
SH3D19	152503	genome.wustl.edu	37	4	152147325	152147325	+	5'UTR	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr4:152147325G>T	ENST00000304527.4	-	0	335				SH3D19_ENST00000604030.1_Intron|SH3D19_ENST00000514152.1_Intron|SH3D19_ENST00000409598.4_5'UTR|SH3D19_ENST00000455740.1_5'UTR|SH3D19_ENST00000424281.1_5'UTR|SH3D19_ENST00000409252.2_5'Flank	NM_001009555.3	NP_001009555.3	Q5HYK7	SH319_HUMAN	SH3 domain containing 19						cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CATACCATTAGATTTCACAAA	0.403																																																	0																																										SO:0001623	5_prime_UTR_variant	0			BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000304527.4:c.-755C>A	4.37:g.152147325G>T			B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	RNA	SNP	-	NULL	ENST00000304527.4	37	NULL	CCDS34077.2	4																																																																																			SH3D19	-	-	ENSG00000109686		0.403	SH3D19-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3D19	HGNC	protein_coding		-	0.00	49	0	G	NM_001009555		152147325	-1	tier1	-	no_errors	ENST00000474743	ensembl	human	known	74_37	rna	42.86	12	9	SNP	0.000	T
SIDT2	51092	genome.wustl.edu	37	11	117060948	117060948	+	Silent	SNP	C	C	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr11:117060948C>A	ENST00000324225.4	+	17	2091	c.1560C>A	c.(1558-1560)atC>atA	p.I520I	SIDT2_ENST00000431081.2_Silent_p.I517I|SIDT2_ENST00000532062.1_5'Flank	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	520					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TGCTCATCATCCTGCAACGGG	0.602																																																	0													153.0	142.0	146.0					11																	117060948		2201	4296	6497	SO:0001819	synonymous_variant	0			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.1560C>A	11.37:g.117060948C>A			Q8NBY7|Q9Y357	Silent	SNP	NULL	p.I541	ENST00000324225.4	37	c.1623	CCDS31682.1	11																																																																																			SIDT2	-	NULL	ENSG00000149577		0.602	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	HGNC	protein_coding	OTTHUMT00000392836.1		0.00	30	0	C	NM_015996		117060948	+1			no_errors	ENST00000278951	ensembl	human	known	74_37	silent	9.52	19	2	SNP	1.000	A
SIGLEC10	89790	genome.wustl.edu	37	19	51919988	51919988	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr19:51919988A>T	ENST00000339313.5	-	3	754	c.638T>A	c.(637-639)cTc>cAc	p.L213H	CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.L213H|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.L165H|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.L155H|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.L213H|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.L155H|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.L155H|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.L213H			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	213	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		ATGGCAGGTGAGGTCGGTGTT	0.632																																																	0													123.0	97.0	106.0					19																	51919988		2203	4300	6503	SO:0001583	missense	0			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.638T>A	19.37:g.51919988A>T	ENSP00000345243:p.Leu213His		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L213H	ENST00000339313.5	37	c.638	CCDS12832.1	19	.	.	.	.	.	.	.	.	.	.	.	14.62	2.591050	0.46214	.	.	ENSG00000142512	ENST00000353836;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313;ENST00000529627;ENST00000530476	D;D;D;D;D;D;D;D;D;D	0.88509	-1.59;-2.39;-1.59;-2.39;-1.59;-2.39;-2.39;-1.59;-2.39;-1.59	4.69	4.69	0.59074	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47852	D	0.000208	D	0.94928	0.8360	M	0.91768	3.24	0.37819	D	0.928311	D;D;D;D;D;D;D	0.89917	1.0;0.988;0.967;1.0;0.972;1.0;1.0	D;D;P;D;D;D;D	0.97110	0.999;0.944;0.698;1.0;0.943;0.993;1.0	D	0.96323	0.9238	10	0.87932	D	0	.	10.5114	0.44864	1.0:0.0:0.0:0.0	.	165;213;155;213;155;155;213	C9JM10;E9PL79;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;SIG10_HUMAN	H	213;155;213;155;213;155;165;213;27;180	ENSP00000342389:L213H;ENSP00000395475:L155H;ENSP00000348646:L213H;ENSP00000408387:L155H;ENSP00000431444:L213H;ENSP00000389132:L155H;ENSP00000414324:L165H;ENSP00000345243:L213H;ENSP00000435281:L27H;ENSP00000433838:L180H	ENSP00000345243:L213H	L	-	2	0	SIGLEC10	56611800	1.000000	0.71417	0.978000	0.43139	0.033000	0.12548	4.388000	0.59633	1.746000	0.51805	0.260000	0.18958	CTC	SIGLEC10	-	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000142512		0.632	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC10	HGNC	protein_coding	OTTHUMT00000384620.2	-	0.00	238	0	A	NM_033130		51919988	-1	tier1	-	no_errors	ENST00000339313	ensembl	human	known	74_37	missense	6.38	131	9	SNP	0.999	T
SLC12A6	9990	genome.wustl.edu	37	15	34567565	34567565	+	Silent	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr15:34567565C>T	ENST00000354181.3	-	3	789	c.297G>A	c.(295-297)ggG>ggA	p.G99G	SLC12A6_ENST00000397702.2_Silent_p.G40G|SLC12A6_ENST00000458406.2_Silent_p.G40G|SLC12A6_ENST00000560611.1_Silent_p.G99G|SLC12A6_ENST00000290209.5_Silent_p.G48G|SLC12A6_ENST00000560164.1_5'UTR|SLC12A6_ENST00000397707.2_Intron|SLC12A6_ENST00000451844.2_5'UTR|SLC12A6_ENST00000558589.1_Silent_p.G90G|SLC12A6_ENST00000558667.1_Silent_p.G99G			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	99					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GGCTGTGTTCCCCTGTGATGG	0.348																																																	0													87.0	75.0	79.0					15																	34567565		2201	4298	6499	SO:0001819	synonymous_variant	0			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.297G>A	15.37:g.34567565C>T			A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Silent	SNP	pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.G90	ENST00000354181.3	37	c.270	CCDS58352.1	15																																																																																			SLC12A6	-	NULL	ENSG00000140199		0.348	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SLC12A6	HGNC	protein_coding	OTTHUMT00000417991.1	-	0.00	70	0	C	NM_005135		34567565	-1	tier1	-	no_errors	ENST00000558589	ensembl	human	known	74_37	silent	7.69	48	4	SNP	1.000	T
SLC18A2	6571	genome.wustl.edu	37	10	119013563	119013563	+	Silent	SNP	T	T	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:119013563T>C	ENST00000298472.5	+	5	671	c.528T>C	c.(526-528)ttT>ttC	p.F176F	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	176					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CGGCAGTGTTTGCCTTCTCCA	0.592																																																	0													150.0	133.0	138.0					10																	119013563		2203	4300	6503	SO:0001819	synonymous_variant	0			L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.528T>C	10.37:g.119013563T>C			B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F176	ENST00000298472.5	37	c.528	CCDS7599.1	10																																																																																			SLC18A2	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000165646		0.592	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A2	HGNC	protein_coding	OTTHUMT00000050563.1		0.00	56	0	T	NM_003054		119013563	+1			no_errors	ENST00000298472	ensembl	human	known	74_37	silent	8.11	34	3	SNP	0.988	C
SLC24A1	9187	genome.wustl.edu	37	15	65916671	65916671	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr15:65916671G>A	ENST00000261892.6	+	2	540	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	SLC24A1_ENST00000399033.4_Missense_Mutation_p.E85K|SLC24A1_ENST00000546330.1_Missense_Mutation_p.E85K|SLC24A1_ENST00000339868.6_Missense_Mutation_p.E85K|SLC24A1_ENST00000544319.2_Missense_Mutation_p.E85K|SLC24A1_ENST00000537259.1_Missense_Mutation_p.E85K	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	85					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACCTAGCTCCGAAATGGGGGG	0.512																																																	0													42.0	42.0	42.0					15																	65916671		1962	4172	6134	SO:0001583	missense	0			AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.253G>A	15.37:g.65916671G>A	ENSP00000261892:p.Glu85Lys		O43485|O75184|Q17RM9	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger	p.E85K	ENST00000261892.6	37	c.253	CCDS45284.1	15	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241765	0.58995	.	.	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;T;T;T;T;T	0.78126	-0.89;-1.12;-1.09;2.02;-1.15;-1.09	5.1	1.26	0.21427	.	1.016830	0.07881	N	0.969579	D	0.83207	0.5204	L	0.49126	1.545	0.09310	N	1	B;B;B;D;D	0.89917	0.366;0.251;0.251;1.0;1.0	B;B;B;D;D	0.80764	0.016;0.012;0.012;0.994;0.986	T	0.67608	-0.5627	10	0.87932	D	0	.	7.3188	0.26515	0.3201:0.0:0.6799:0.0	.	85;85;85;85;85	O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;NCKX1_HUMAN;.;.	K	85	ENSP00000439693:E85K;ENSP00000261892:E85K;ENSP00000341837:E85K;ENSP00000445163:E85K;ENSP00000381991:E85K;ENSP00000439190:E85K	ENSP00000261892:E85K	E	+	1	0	SLC24A1	63703724	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	0.588000	0.23924	0.116000	0.18110	0.655000	0.94253	GAA	SLC24A1	-	tigrfam_K-dep_Na/Ca-exchanger	ENSG00000074621		0.512	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A1	HGNC	protein_coding	OTTHUMT00000397304.1	-	0.00	94	0	G	NM_004727		65916671	+1	tier1	-	no_errors	ENST00000261892	ensembl	human	known	74_37	missense	12.99	67	10	SNP	0.001	A
SLC34A1	6569	genome.wustl.edu	37	5	176812815	176812815	+	Nonsense_Mutation	SNP	C	C	T	rs200893951		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr5:176812815C>T	ENST00000324417.5	+	2	164	c.73C>T	c.(73-75)Cga>Tga	p.R25*	SLC34A1_ENST00000512593.1_Nonsense_Mutation_p.R25*	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	25					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCATGTGATGCGAGGGACGGC	0.657																																																	0													76.0	58.0	64.0					5																	176812815		2203	4300	6503	SO:0001587	stop_gained	0			L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.73C>T	5.37:g.176812815C>T	ENSP00000321424:p.Arg25*		B4DPE3	Nonsense_Mutation	SNP	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt	p.R25*	ENST00000324417.5	37	c.73	CCDS4418.1	5	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707278	0.48412	.	.	ENSG00000131183	ENST00000504577;ENST00000512593;ENST00000324417	.	.	.	4.95	4.07	0.47477	.	1.092390	0.06994	N	0.822102	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.8711	11.0463	0.47861	0.0:0.9123:0.0:0.0877	.	.	.	.	X	25	.	ENSP00000321424:R25X	R	+	1	2	SLC34A1	176745421	0.202000	0.23423	0.006000	0.13384	0.027000	0.11550	2.341000	0.43983	1.079000	0.41038	0.561000	0.74099	CGA	SLC34A1	-	NULL	ENSG00000131183		0.657	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A1	HGNC	protein_coding	OTTHUMT00000253431.1		0.00	103	0	C	NM_003052		176812815	+1			no_errors	ENST00000324417	ensembl	human	known	74_37	nonsense	5.26	36	2	SNP	0.014	T
SLC4A2	6522	genome.wustl.edu	37	7	150769142	150769142	+	Silent	SNP	C	C	T	rs372791857		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr7:150769142C>T	ENST00000485713.1	+	16	3494	c.2454C>T	c.(2452-2454)ttC>ttT	p.F818F	SLC4A2_ENST00000392826.2_Silent_p.F809F|SLC4A2_ENST00000413384.2_Silent_p.F818F|SLC4A2_ENST00000461735.1_Silent_p.F804F|SLC4A2_ENST00000310317.5_Silent_p.F736F|RP11-148K1.12_ENST00000485974.1_RNA	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	818	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGTCCGCTTCGTCTCCCGCT	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		15251	0.0		0.0	False		,,,				2504	0.001																0								C	,,,	1,4405	2.1+/-5.4	0,1,2202	180.0	178.0	179.0		2454,2427,2412,2454	-6.2	1.0	7		179	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC4A2	NM_001199692.1,NM_001199693.1,NM_001199694.1,NM_003040.3	,,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,,	818/1242,809/1233,804/1228,818/1242	150769142	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2454C>T	7.37:g.150769142C>T			B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk	p.F818	ENST00000485713.1	37	c.2454	CCDS5917.1	7																																																																																			SLC4A2	-	pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	ENSG00000164889		0.602	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC4A2	HGNC	protein_coding	OTTHUMT00000351039.1	-	0.00	67	0	C	NM_003040		150769142	+1	tier1	-	no_errors	ENST00000413384	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.970	T
SLC4A3	6508	genome.wustl.edu	37	2	220493143	220493143	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:220493143A>G	ENST00000358055.3	+	3	580	c.68A>G	c.(67-69)gAg>gGg	p.E23G	SLC4A3_ENST00000317151.3_Missense_Mutation_p.E23G|SLC4A3_ENST00000373760.2_Missense_Mutation_p.E23G|SLC4A3_ENST00000273063.6_Missense_Mutation_p.E23G|AC009955.8_ENST00000455896.1_RNA|SLC4A3_ENST00000373762.3_Missense_Mutation_p.E23G			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	23					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGCCCTTGGAGGAGCCCCCT	0.647																																																	0													38.0	42.0	41.0					2																	220493143		2203	4300	6503	SO:0001583	missense	0				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.68A>G	2.37:g.220493143A>G	ENSP00000350756:p.Glu23Gly		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.E23G	ENST00000358055.3	37	c.68	CCDS2445.1	2	.	.	.	.	.	.	.	.	.	.	A	14.62	2.590189	0.46214	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.75050	-0.86;-0.86;-0.9;-0.9;-0.86	3.71	3.71	0.42584	.	11.777600	0.00166	N	0.000002	T	0.80665	0.4666	N	0.25647	0.755	0.35783	D	0.821818	P;D	0.61080	0.947;0.989	D;D	0.70487	0.932;0.969	T	0.69684	-0.5079	10	0.59425	D	0.04	.	10.5548	0.45110	1.0:0.0:0.0:0.0	.	23;23	P48751;P48751-3	B3A3_HUMAN;.	G	23	ENSP00000350756:E23G;ENSP00000362865:E23G;ENSP00000273063:E23G;ENSP00000362867:E23G;ENSP00000314006:E23G	ENSP00000273063:E23G	E	+	2	0	SLC4A3	220201387	0.765000	0.28485	1.000000	0.80357	0.947000	0.59692	2.518000	0.45537	1.676000	0.50930	0.260000	0.18958	GAG	SLC4A3	-	NULL	ENSG00000114923		0.647	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	HGNC	protein_coding	OTTHUMT00000316472.1		0.00	87	0	A	NM_005070		220493143	+1			no_errors	ENST00000273063	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	G
SLK	9748	genome.wustl.edu	37	10	105762241	105762241	+	Silent	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:105762241C>T	ENST00000369755.3	+	9	1850	c.1305C>T	c.(1303-1305)gaC>gaT	p.D435D	SLK_ENST00000335753.4_Silent_p.D435D	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	435	Glu-rich.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ATCTGCCTGACACAGAAGACC	0.368																																					NSCLC(111;540 1651 1927 4474 17706)												0													106.0	116.0	112.0					10																	105762241		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1305C>T	10.37:g.105762241C>T			D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Silent	SNP	pfam_PKK,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_UVR_dom,pfscan_Prot_kinase_dom	p.D435	ENST00000369755.3	37	c.1305	CCDS7553.1	10																																																																																			SLK	-	superfamily_Kinase-like_dom	ENSG00000065613		0.368	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLK	HGNC	protein_coding	OTTHUMT00000050188.1	-	0.00	66	0	C	NM_014720		105762241	+1	tier1	-	no_errors	ENST00000369755	ensembl	human	known	74_37	silent	36.59	26	15	SNP	0.002	T
SMARCA4	6597	genome.wustl.edu	37	19	11100104	11100104	+	Silent	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr19:11100104G>A	ENST00000429416.3	+	8	1511	c.1230G>A	c.(1228-1230)ctG>ctA	p.L410L	SMARCA4_ENST00000344626.4_Silent_p.L410L|SMARCA4_ENST00000444061.3_Silent_p.L410L|SMARCA4_ENST00000589677.1_Silent_p.L410L|SMARCA4_ENST00000358026.2_Silent_p.L410L|SMARCA4_ENST00000541122.2_Silent_p.L410L|SMARCA4_ENST00000450717.3_Silent_p.L410L|SMARCA4_ENST00000590574.1_Silent_p.L410L|SMARCA4_ENST00000413806.3_Silent_p.L410L	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	410					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCAGGCTGCTGAACTTCCAGA	0.582			"""F, N, Mis"""		NSCLC																																			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	1	Unknown(1)	lung(1)											71.0	62.0	65.0					19																	11100104		2203	4300	6503	SO:0001819	synonymous_variant	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1230G>A	19.37:g.11100104G>A			B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.L410	ENST00000429416.3	37	c.1230	CCDS12253.1	19																																																																																			SMARCA4	-	NULL	ENSG00000127616		0.582	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	-	0.00	167	0	G	NM_003072		11100104	+1	tier1	-	no_errors	ENST00000358026	ensembl	human	known	74_37	silent	5.98	110	7	SNP	0.996	A
SMC2	10592	genome.wustl.edu	37	9	106887320	106887321	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr9:106887320_106887321insA	ENST00000286398.7	+	18	2673_2674	c.2385_2386insA	c.(2386-2388)aaafs	p.K796fs	SMC2_ENST00000374787.3_Frame_Shift_Ins_p.K796fs|SMC2_ENST00000374793.3_Frame_Shift_Ins_p.K796fs|SMC2_ENST00000303219.8_Frame_Shift_Ins_p.K796fs	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	796					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.Q795Q(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AAGATGCTCAGAAAAAACTGGA	0.327																																																	1	Substitution - coding silent(1)	ovary(1)																																								SO:0001589	frameshift_variant	0			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2391dupA	9.37:g.106887326_106887326dupA	ENSP00000286398:p.Lys796fs		Q6IEE0|Q9P1P2	Frame_Shift_Ins	INS	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge	p.L797fs	ENST00000286398.7	37	c.2385_2386	CCDS35086.1	9																																																																																			SMC2	-	superfamily_P-loop_NTPase	ENSG00000136824		0.327	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC2	HGNC	protein_coding	OTTHUMT00000053470.1		0.00	56	0	-			106887321	+1	tier1		no_errors	ENST00000286398	ensembl	human	known	74_37	frame_shift_ins	23.40	36	11	INS	1.000:1.000	A
SMG8	55181	genome.wustl.edu	37	17	57289730	57289730	+	Silent	SNP	G	G	A	rs143473864	byFrequency	TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:57289730G>A	ENST00000543872.2	+	3	2052	c.1788G>A	c.(1786-1788)ccG>ccA	p.P596P	SMG8_ENST00000300917.5_Silent_p.P596P|SMG8_ENST00000580498.1_3'UTR|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	596					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						ATAGAAATCCGCCTGTGCTAT	0.413																																																	0													95.0	106.0	102.0					17																	57289730		2203	4300	6503	SO:0001819	synonymous_variant	0			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1788G>A	17.37:g.57289730G>A			Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Silent	SNP	pfam_Smg8/Smg9	p.P596	ENST00000543872.2	37	c.1788	CCDS11615.1	17																																																																																			SMG8	-	pfam_Smg8/Smg9	ENSG00000167447		0.413	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	HGNC	protein_coding	OTTHUMT00000445960.2	-	0.00	125	0	G	NM_018149		57289730	+1	tier1	-	no_errors	ENST00000300917	ensembl	human	known	74_37	silent	15.32	103	19	SNP	0.718	A
SMURF2	64750	genome.wustl.edu	37	17	62543830	62543830	+	Silent	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:62543830G>A	ENST00000262435.9	-	17	2146	c.1959C>T	c.(1957-1959)gtC>gtT	p.V653V		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	653	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|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)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			AGAACCATTTGACAATGTTGC	0.433																																																	0													151.0	144.0	146.0					17																	62543830		2203	4300	6503	SO:0001819	synonymous_variant	0			AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.1959C>T	17.37:g.62543830G>A			Q52LL1|Q9H260	Silent	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.V653	ENST00000262435.9	37	c.1959	CCDS32707.1	17																																																																																			SMURF2	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000108854		0.433	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMURF2	HGNC	protein_coding	OTTHUMT00000445227.1	-	0.00	119	0	G	NM_022739		62543830	-1	tier1	-	no_errors	ENST00000262435	ensembl	human	known	74_37	silent	44.33	53	43	SNP	1.000	A
SNED1	25992	genome.wustl.edu	37	2	241991851	241991851	+	Silent	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:241991851C>T	ENST00000310397.8	+	15	2049	c.2049C>T	c.(2047-2049)tgC>tgT	p.C683C	SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000342631.6_Silent_p.C683C|SNED1_ENST00000401884.1_Silent_p.C683C|SNED1_ENST00000405547.3_Silent_p.C683C|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	683	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TCTGCCACTGCCAAGCAGGGT	0.642																																																	0													55.0	63.0	60.0					2																	241991851		2030	4188	6218	SO:0001819	synonymous_variant	0			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2049C>T	2.37:g.241991851C>T			B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP	pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.C683	ENST00000310397.8	37	c.2049	CCDS46562.1	2																																																																																			SNED1	-	smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	ENSG00000162804		0.642	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2		0.00	106	0	C	XM_059482		241991851	+1			no_errors	ENST00000310397	ensembl	human	known	74_37	silent	5.26	54	3	SNP	0.898	T
SORBS2	8470	genome.wustl.edu	37	4	186544620	186544622	+	In_Frame_Del	DEL	GGT	GGT	-	rs562339021		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	GGT	GGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr4:186544620_186544622delGGT	ENST00000284776.7	-	13	2458_2460	c.1949_1951delACC	c.(1948-1953)caccgc>cgc	p.H650del	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.H554del|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000431808.1_In_Frame_Del_p.H650del|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.H750del	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	650	His-rich.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATGAggtggcggtggtggtggtg	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)												0																																										SO:0001651	inframe_deletion	0				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1949_1951delACC	4.37:g.186544629_186544631delGGT	ENSP00000284776:p.His650del		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	In_Frame_Del	DEL	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.H650in_frame_del	ENST00000284776.7	37	c.1951_1949	CCDS3845.1	4																																																																																			SORBS2	-	NULL	ENSG00000154556		0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	HGNC	protein_coding	OTTHUMT00000347944.3		0.00	20	0	GGT	NM_003603		186544622	-1	tier1		no_errors	ENST00000284776	ensembl	human	known	74_37	in_frame_del	28.57	5	2	DEL	1.000:1.000:1.000	-
SP100	6672	genome.wustl.edu	37	2	231371134	231371134	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:231371134G>T	ENST00000264052.5	+	22	2342	c.1987G>T	c.(1987-1989)Gga>Tga	p.G663*	RN7SL834P_ENST00000461450.2_RNA|SP100_ENST00000409112.1_Nonsense_Mutation_p.G663*|SP100_ENST00000340126.4_Nonsense_Mutation_p.G663*	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	663	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACGCTGCGGTGGATATACCCT	0.443																																																	0													70.0	68.0	69.0					2																	231371134		2203	4300	6503	SO:0001587	stop_gained	0			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1987G>T	2.37:g.231371134G>T	ENSP00000264052:p.Gly663*		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Nonsense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.G663*	ENST00000264052.5	37	c.1987	CCDS2477.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.863477|7.863477	0.98531|0.98531	.|.	.|.	ENSG00000067066|ENSG00000067066	ENST00000264052;ENST00000409112;ENST00000340126;ENST00000414648|ENST00000431952	.|.	.|.	.|.	4.65|4.65	3.76|3.76	0.43208|0.43208	.|.	.|.	.|.	.|.	.|.	.|T	.|0.43456	.|0.1248	.|.	.|.	.|.	0.32433|0.32433	N|N	0.547769|0.547769	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.49143	.|-0.8970	.|4	0.87932|.	D|.	0|.	.|.	8.0405|8.0405	0.30519|0.30519	0.1078:0.0:0.8922:0.0|0.1078:0.0:0.8922:0.0	.|.	.|.	.|.	.|.	X|L	663;663;663;146|49	.|.	ENSP00000264052:G663X|.	G|W	+|+	1|2	0|0	SP100|SP100	231079378|231079378	0.144000|0.144000	0.22641|0.22641	0.105000|0.105000	0.21289|0.21289	0.139000|0.139000	0.21198|0.21198	1.423000|1.423000	0.34837|0.34837	2.574000|2.574000	0.86865|0.86865	0.655000|0.655000	0.94253|0.94253	GGA|TGG	SP100	-	pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom	ENSG00000067066		0.443	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2	-	0.00	67	0	G	NM_003113		231371134	+1	tier1	-	no_errors	ENST00000340126	ensembl	human	known	74_37	nonsense	8.00	46	4	SNP	0.063	T
SPATA2	9825	genome.wustl.edu	37	20	48523309	48523309	+	Missense_Mutation	SNP	C	C	T	rs201830184		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr20:48523309C>T	ENST00000422556.1	-	3	759	c.410G>A	c.(409-411)tGc>tAc	p.C137Y	SPATA2_ENST00000543716.1_5'UTR|SPATA2_ENST00000289431.5_Missense_Mutation_p.C137Y	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	137					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GTAGCCCATGCAGCTCAGGAT	0.512																																																	0													50.0	48.0	49.0					20																	48523309		2203	4300	6503	SO:0001583	missense	0			AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.410G>A	20.37:g.48523309C>T	ENSP00000416799:p.Cys137Tyr		E1P626|O94857	Missense_Mutation	SNP	NULL	p.C137Y	ENST00000422556.1	37	c.410	CCDS13422.1	20	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.563891	0.00903	.	.	ENSG00000158480	ENST00000289431;ENST00000422556	T;T	0.62498	0.02;0.02	5.61	1.85	0.25348	.	0.384601	0.26404	N	0.024574	T	0.18341	0.0440	N	0.00538	-1.39	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27434	-1.0074	10	0.02654	T	1	-21.2335	2.4031	0.04406	0.2624:0.0741:0.1286:0.535	.	137	Q9UM82	SPAT2_HUMAN	Y	137	ENSP00000289431:C137Y;ENSP00000416799:C137Y	ENSP00000289431:C137Y	C	-	2	0	SPATA2	47956716	1.000000	0.71417	0.790000	0.31976	0.655000	0.38815	2.079000	0.41577	0.382000	0.24878	-0.469000	0.05056	TGC	SPATA2	-	NULL	ENSG00000158480		0.512	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA2	HGNC	protein_coding	OTTHUMT00000079658.1		0.00	73	0	C	NM_006038		48523309	-1			no_errors	ENST00000289431	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.809	T
SPATC1	375686	genome.wustl.edu	37	8	145095486	145095486	+	Missense_Mutation	SNP	C	C	T	rs139626189		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr8:145095486C>T	ENST00000377470.3	+	3	886	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S	SPATC1_ENST00000447830.2_Missense_Mutation_p.P262S	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	262						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCCACTGAGCCCCCCCAGTC	0.622																																																	0								C	SER/PRO,SER/PRO	0,4406		0,0,2203	134.0	88.0	104.0		784,784	0.0	0.0	8	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SPATC1	NM_001134374.1,NM_198572.2	74,74	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	262/442,262/592	145095486	1,13005	2203	4300	6503	SO:0001583	missense	0			BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.784C>T	8.37:g.145095486C>T	ENSP00000366690:p.Pro262Ser		B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	NULL	p.P262S	ENST00000377470.3	37	c.784	CCDS6413.2	8	.	.	.	.	.	.	.	.	.	.	C	0.210	-1.037264	0.02013	0.0	1.16E-4	ENSG00000186583	ENST00000377470;ENST00000447830	T	0.41758	0.99	4.04	0.0315	0.14171	.	2.551710	0.01350	N	0.011861	T	0.15003	0.0362	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.16453	-1.0402	10	0.10111	T	0.7	.	0.8715	0.01215	0.2053:0.4108:0.1722:0.2116	.	262;262	B4DWW9;Q76KD6	.;SPERI_HUMAN	S	262	ENSP00000366690:P262S	ENSP00000366690:P262S	P	+	1	0	SPATC1	145167474	0.001000	0.12720	0.002000	0.10522	0.000000	0.00434	-0.212000	0.09319	0.104000	0.17725	-2.816000	0.00109	CCC	SPATC1	-	NULL	ENSG00000186583		0.622	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATC1	HGNC	protein_coding	OTTHUMT00000346926.1		0.00	48	0	C	NM_198572		145095486	+1			no_errors	ENST00000377470	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.003	T
STOX1	219736	genome.wustl.edu	37	10	70644114	70644114	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:70644114A>G	ENST00000298596.6	+	3	645	c.562A>G	c.(562-564)Act>Gct	p.T188A	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.T78A|STOX1_ENST00000399169.4_Missense_Mutation_p.T188A|STOX1_ENST00000399165.4_Missense_Mutation_p.T188A	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	188						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CTTCATAGTTACTCCTCAGAC	0.403																																																	0													99.0	94.0	95.0					10																	70644114		1885	4119	6004	SO:0001583	missense	0			AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.562A>G	10.37:g.70644114A>G	ENSP00000298596:p.Thr188Ala		A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	pfam_Storkhead-box_winged-helix	p.T188A	ENST00000298596.6	37	c.562	CCDS41535.1	10	.	.	.	.	.	.	.	.	.	.	A	22.3	4.278006	0.80692	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000399165;ENST00000421961	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	5.58	5.58	0.84498	Storkhead-box protein, winged-helix domain (1);	0.000000	0.85682	U	0.000000	D	0.90188	0.6933	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.97110	1.0;0.894	D	0.91257	0.5034	10	0.59425	D	0.04	.	15.7497	0.77972	1.0:0.0:0.0:0.0	.	188;188	Q6ZVD7;Q6ZVD7-2	STOX1_HUMAN;.	A	188;188;188;78	ENSP00000382121:T188A;ENSP00000298596:T188A;ENSP00000382118:T188A;ENSP00000394509:T78A	ENSP00000298596:T188A	T	+	1	0	STOX1	70314120	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.268000	0.78473	2.118000	0.64928	0.402000	0.26972	ACT	STOX1	-	pfam_Storkhead-box_winged-helix	ENSG00000165730		0.403	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STOX1	HGNC	protein_coding	OTTHUMT00000276849.3		0.00	70	0	A	NM_152709		70644114	+1			no_errors	ENST00000298596	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	G
SYNE2	23224	genome.wustl.edu	37	14	64691245	64691245	+	Missense_Mutation	SNP	G	G	T	rs202235545		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr14:64691245G>T	ENST00000344113.4	+	113	20592	c.20380G>T	c.(20380-20382)Gtg>Ttg	p.V6794L	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554805.1_Missense_Mutation_p.V577L|SYNE2_ENST00000555022.1_Missense_Mutation_p.V672L|SYNE2_ENST00000357395.3_Missense_Mutation_p.V3179L|SYNE2_ENST00000394768.2_Missense_Mutation_p.V3179L|SYNE2_ENST00000555002.1_Missense_Mutation_p.V3451L|SYNE2_ENST00000441438.2_Missense_Mutation_p.V339L|SYNE2_ENST00000458046.2_Missense_Mutation_p.V465L|SYNE2_ENST00000554584.1_Missense_Mutation_p.V6710L|SYNE2_ENST00000358025.3_Missense_Mutation_p.V6817L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6794					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGCAACATCCGTGCCAGCTCC	0.527																																																	0													73.0	75.0	74.0					14																	64691245		2203	4300	6503	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.20380G>T	14.37:g.64691245G>T	ENSP00000341781:p.Val6794Leu		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.V6817L	ENST00000344113.4	37	c.20449	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	8.512	0.866749	0.17250	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T;T	0.56611	0.92;4.18;0.87;0.45;4.27;4.18;3.82;3.34;3.01;2.83	4.04	-2.46	0.06461	.	1.970240	0.02496	N	0.090018	T	0.42291	0.1196	L	0.52364	1.645	0.09310	N	1	B;B;B;B;B;B;B;B	0.23540	0.01;0.028;0.087;0.087;0.018;0.001;0.001;0.004	B;B;B;B;B;B;B;B	0.23419	0.005;0.023;0.046;0.046;0.017;0.001;0.002;0.003	T	0.08638	-1.0712	10	0.34782	T	0.22	.	1.128	0.01739	0.3737:0.1458:0.3317:0.1488	.	451;3179;339;465;1196;6710;6794;6817	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;.;SYNE2_HUMAN;.	L	6817;3179;6794;6710;6716;3451;3179;672;577;465;339	ENSP00000350719:V6817L;ENSP00000349969:V3179L;ENSP00000341781:V6794L;ENSP00000452570:V6710L;ENSP00000450831:V3451L;ENSP00000378249:V3179L;ENSP00000451009:V672L;ENSP00000450605:V577L;ENSP00000391937:V465L;ENSP00000396794:V339L	ENSP00000261678:V6716L	V	+	1	0	SYNE2	63760998	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.574000	0.02133	-0.530000	0.06349	-0.263000	0.10527	GTG	SYNE2	-	NULL	ENSG00000054654		0.527	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	-	0.00	70	0	G	NM_182914		64691245	+1	tier1	-	no_errors	ENST00000358025	ensembl	human	known	74_37	missense	54.17	22	26	SNP	0.000	T
SYTL2	54843	genome.wustl.edu	37	11	85435274	85435274	+	Intron	SNP	T	T	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr11:85435274T>C	ENST00000528231.1	-	8	1737				SYTL2_ENST00000525423.1_Silent_p.A742A|SYTL2_ENST00000359152.5_Silent_p.A1266A|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000354566.3_Silent_p.A742A|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ACACACTAATTGCTTCAGAAG	0.458																																																	0													78.0	76.0	76.0					11																	85435274		2203	4299	6502	SO:0001627	intron_variant	0			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1460-3272A>G	11.37:g.85435274T>C			B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.A1266	ENST00000528231.1	37	c.3798	CCDS53688.1	11																																																																																			SYTL2	-	NULL	ENSG00000137501		0.458	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1		0.00	62	0	T	NM_206927		85435274	-1			no_errors	ENST00000359152	ensembl	human	known	74_37	silent	9.38	29	3	SNP	0.006	C
TAF2	6873	genome.wustl.edu	37	8	120793408	120793408	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr8:120793408C>G	ENST00000378164.2	-	17	2436	c.2138G>C	c.(2137-2139)tGg>tCg	p.W713S		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	713					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGGTCCTGTCCATGTGCTCAC	0.333																																																	0													71.0	74.0	73.0					8																	120793408		2203	4300	6503	SO:0001583	missense	0			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2138G>C	8.37:g.120793408C>G	ENSP00000367406:p.Trp713Ser		B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,superfamily_ARM-type_fold	p.W713S	ENST00000378164.2	37	c.2138	CCDS34937.1	8	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522025	0.64747	.	.	ENSG00000064313	ENST00000378164	T	0.46451	0.87	5.32	5.32	0.75619	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62392	0.2424	M	0.86953	2.85	0.80722	D	1	P	0.51351	0.944	P	0.50231	0.635	T	0.70583	-0.4832	10	0.72032	D	0.01	-3.3601	19.3729	0.94495	0.0:1.0:0.0:0.0	.	713	Q6P1X5	TAF2_HUMAN	S	713	ENSP00000367406:W713S	ENSP00000367406:W713S	W	-	2	0	TAF2	120862589	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.665000	0.90641	0.585000	0.79938	TGG	TAF2	-	superfamily_ARM-type_fold	ENSG00000064313		0.333	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF2	HGNC	protein_coding	OTTHUMT00000381436.1	-	0.00	92	0	C	NM_003184		120793408	-1	tier1	-	no_errors	ENST00000378164	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	G
TET2	54790	genome.wustl.edu	37	4	106156651	106156652	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr4:106156651_106156652insT	ENST00000540549.1	+	3	2412_2413	c.1552_1553insT	c.(1552-1554)attfs	p.I518fs	TET2_ENST00000545826.1_Frame_Shift_Ins_p.I518fs|TET2_ENST00000513237.1_Frame_Shift_Ins_p.I539fs|TET2_ENST00000413648.2_Frame_Shift_Ins_p.I518fs|TET2_ENST00000394764.1_Frame_Shift_Ins_p.I518fs|TET2_ENST00000380013.4_Frame_Shift_Ins_p.I518fs|TET2_ENST00000305737.2_Frame_Shift_Ins_p.I518fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	518					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TAACCCACCAATTTTTGGTAGC	0.45			"""Mis N, F"""		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0																																										SO:0001589	frameshift_variant	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1557dupT	4.37:g.106156656_106156656dupT	ENSP00000442788:p.Ile518fs		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Ins	INS	NULL	p.G520fs	ENST00000540549.1	37	c.1552_1553	CCDS47120.1	4																																																																																			TET2	-	NULL	ENSG00000168769		0.450	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2		0.00	37	0	-	NM_017628		106156652	+1	tier1		no_errors	ENST00000380013	ensembl	human	known	74_37	frame_shift_ins	8.00	23	2	INS	0.000:0.000	T
TET3	200424	genome.wustl.edu	37	2	74274965	74274965	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:74274965C>T	ENST00000409262.3	+	1	1516	c.1516C>T	c.(1516-1518)Cag>Tag	p.Q506*		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	506					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAGGAAGTGCAGGCTCATCC	0.627																																																	0													23.0	27.0	26.0					2																	74274965		1997	4172	6169	SO:0001587	stop_gained	0				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.1516C>T	2.37:g.74274965C>T	ENSP00000386869:p.Gln506*		A6NEI3|Q86Z24|Q8TBM9	Nonsense_Mutation	SNP	NULL	p.Q506*	ENST00000409262.3	37	c.1516	CCDS46339.1	2	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602327	0.46423	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	13.6693	0.62416	0.0:1.0:0.0:0.0	.	.	.	.	X	548;506;506	.	ENSP00000233310:Q506X	Q	+	1	0	TET3	74128473	0.982000	0.34865	0.909000	0.35828	0.009000	0.06853	2.486000	0.45259	2.686000	0.91538	0.591000	0.81541	CAG	TET3	-	NULL	ENSG00000187605		0.627	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	-	0.00	58	0	C			74274965	+1	tier1	-	no_errors	ENST00000409262	ensembl	human	known	74_37	nonsense	11.76	30	4	SNP	0.972	T
TEX41	401014	genome.wustl.edu	37	2	145909903	145909903	+	IGR	DEL	A	A	-			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:145909903delA								TEX41 (75607 upstream) : AC064865.1 (141941 downstream)																							ttttgcagggaaaaagcttct	0.378																																																	0																																										SO:0001628	intergenic_variant	0																															2.37:g.145909903delA				RNA	DEL	-	NULL		37	NULL		2																																																																																			TEX41	-	-	ENSG00000226674	0	0.378					TEX41	HGNC				0.00	13	0	A			145909903	+1	tier1		no_errors	ENST00000597173	ensembl	human	known	74_37	rna	22.22	7	2	DEL	0.072	-
TFAP2D	83741	genome.wustl.edu	37	6	50696619	50696619	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr6:50696619C>T	ENST00000008391.3	+	4	877	c.649C>T	c.(649-651)Cgt>Tgt	p.R217C	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TGTCCCTGGCCGTTTGTCCCT	0.473																																																	0													107.0	106.0	106.0					6																	50696619		2203	4300	6503	SO:0001583	missense	0			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.649C>T	6.37:g.50696619C>T	ENSP00000008391:p.Arg217Cys			Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_C	p.R217C	ENST00000008391.3	37	c.649	CCDS4933.1	6	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634253	0.87660	.	.	ENSG00000008197	ENST00000008391	D	0.99051	-5.37	5.97	5.97	0.96955	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99566	0.9844	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98470	1.0600	10	0.87932	D	0	-16.043	20.4388	0.99107	0.0:1.0:0.0:0.0	.	217	Q7Z6R9	AP2D_HUMAN	C	217	ENSP00000008391:R217C	ENSP00000008391:R217C	R	+	1	0	TFAP2D	50804578	1.000000	0.71417	0.994000	0.49952	0.964000	0.63967	5.950000	0.70265	2.836000	0.97738	0.655000	0.94253	CGT	TFAP2D	-	pfam_TF_AP2_C	ENSG00000008197		0.473	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2D	HGNC	protein_coding	OTTHUMT00000040881.1		0.00	85	0	C	NM_172238		50696619	+1			no_errors	ENST00000008391	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T
TG	7038	genome.wustl.edu	37	8	133925360	133925360	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr8:133925360C>A	ENST00000220616.4	+	20	4268	c.4228C>A	c.(4228-4230)Ctt>Att	p.L1410I	TG_ENST00000377869.1_Missense_Mutation_p.L1410I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1410					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTCATTCCAGCTTCATCTGGA	0.562																																																	0													113.0	95.0	101.0					8																	133925360		2203	4300	6503	SO:0001583	missense	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4228C>A	8.37:g.133925360C>A	ENSP00000220616:p.Leu1410Ile		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.L1410I	ENST00000220616.4	37	c.4228	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799517	0.70567	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	T;T	0.66815	-0.23;-0.21	5.81	5.81	0.92471	.	0.118100	0.38436	N	0.001700	T	0.80363	0.4609	M	0.72118	2.19	0.30089	N	0.808523	D	0.89917	1.0	D	0.68943	0.961	T	0.79208	-0.1898	10	0.87932	D	0	.	15.5859	0.76482	0.0:1.0:0.0:0.0	.	1410	P01266	THYG_HUMAN	I	1410;216;1410	ENSP00000367100:L1410I;ENSP00000220616:L1410I	ENSP00000220616:L1410I	L	+	1	0	TG	133994542	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	2.462000	0.45049	2.753000	0.94483	0.650000	0.86243	CTT	TG	-	pirsf_Thyroglobulin	ENSG00000042832		0.562	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	-	0.00	95	0	C	NM_003235		133925360	+1	tier1	-	no_errors	ENST00000220616	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	A
THBS2	7058	genome.wustl.edu	37	6	169648886	169648886	+	Missense_Mutation	SNP	G	G	A	rs149505756		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr6:169648886G>A	ENST00000366787.3	-	4	484	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	79	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TCCTTCTGCCGCATGATCTTG	0.652																																					Esophageal Squamous(91;219 1934 18562 44706)												0													139.0	117.0	125.0					6																	169648886		2203	4300	6503	SO:0001583	missense	0				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.235C>T	6.37:g.169648886G>A	ENSP00000355751:p.Arg79Trp		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.R79W	ENST00000366787.3	37	c.235	CCDS34574.1	6	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.77	2.036688	0.35893	.	.	ENSG00000186340	ENST00000366787;ENST00000435791	T	0.02236	4.38	4.55	0.0805	0.14421	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.37809	U	0.001933	T	0.02494	0.0076	M	0.68952	2.095	0.27691	N	0.946101	D	0.64830	0.994	P	0.52758	0.708	T	0.31392	-0.9945	10	0.44086	T	0.13	-28.3786	14.172	0.65514	0.0:0.0:0.4823:0.5177	.	79	P35442	TSP2_HUMAN	W	79	ENSP00000355751:R79W	ENSP00000355751:R79W	R	-	1	2	THBS2	169390811	1.000000	0.71417	0.002000	0.10522	0.001000	0.01503	2.867000	0.48428	0.075000	0.16796	-0.311000	0.09066	CGG	THBS2	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000186340		0.652	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS2	HGNC	protein_coding	OTTHUMT00000105439.1		0.00	65	0	G	NM_003247		169648886	-1			no_errors	ENST00000366787	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.939	A
THNSL1	79896	genome.wustl.edu	37	10	25313365	25313365	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:25313365G>T	ENST00000524413.1	+	3	1560	c.1213G>T	c.(1213-1215)Gca>Tca	p.A405S	THNSL1_ENST00000376356.4_Missense_Mutation_p.A405S			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	405						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.A405T(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	AGCTGTGGTTGCATTTTTTCC	0.378																																																	1	Substitution - Missense(1)	endometrium(1)											124.0	122.0	123.0					10																	25313365		2203	4300	6503	SO:0001583	missense	0			AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"""threonine synthase-like 1 (bacterial)"""			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.1213G>T	10.37:g.25313365G>T	ENSP00000434887:p.Ala405Ser		B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	pfam_Shikimate_kinase/TSH1,pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_P-loop_NTPase,prints_Shikimate_kinase/TSH1,tigrfam_Thr_synthase_like	p.A405S	ENST00000524413.1	37	c.1213	CCDS7147.1	10	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342777	0.24339	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	D;D	0.96885	-4.16;-4.16	5.61	4.48	0.54585	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.477387	0.22663	N	0.057169	D	0.88775	0.6528	N	0.04959	-0.14	0.19775	N	0.999959	B	0.02656	0.0	B	0.04013	0.001	T	0.80144	-0.1505	10	0.49607	T	0.09	-28.934	6.6837	0.23134	0.7923:0.0:0.0721:0.1355	.	405	Q8IYQ7	THNS1_HUMAN	S	405	ENSP00000434887:A405S;ENSP00000365534:A405S	ENSP00000365534:A405S	A	+	1	0	THNSL1	25353371	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.875000	0.56108	0.968000	0.38212	-0.247000	0.11927	GCA	THNSL1	-	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like	ENSG00000185875		0.378	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	THNSL1	HGNC	protein_coding	OTTHUMT00000394913.1		0.00	81	0	G	NM_024838		25313365	+1			no_errors	ENST00000376356	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
THSD7B	80731	genome.wustl.edu	37	2	137814518	137814518	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:137814518C>A	ENST00000409968.1	+	3	846	c.668C>A	c.(667-669)tCa>tAa	p.S223*	THSD7B_ENST00000543459.1_Nonsense_Mutation_p.S82*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.S223*|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.S192*			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	223	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTGACTGAGTCAAGAGCCTGT	0.478																																																	0													178.0	175.0	176.0					2																	137814518		1920	4158	6078	SO:0001587	stop_gained	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.668C>A	2.37:g.137814518C>A	ENSP00000387145:p.Ser223*			Nonsense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.S223*	ENST00000409968.1	37	c.668		2	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533726	0.45073	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152;ENST00000543459	.	.	.	5.56	1.21	0.21127	.	0.438150	0.26863	N	0.022115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	1.7716	0.03012	0.1373:0.4708:0.1335:0.2584	.	.	.	.	X	223;223;192;82	.	ENSP00000272643:S223X	S	+	2	0	THSD7B	137530988	0.726000	0.28059	0.172000	0.22920	0.341000	0.28922	1.719000	0.38011	0.237000	0.21200	0.585000	0.79938	TCA	THSD7B	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000144229		0.478	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	-	0.00	67	0	C	XM_046570.9		137814518	+1	tier1	-	no_errors	ENST00000272643	ensembl	human	known	74_37	nonsense	53.33	21	24	SNP	0.325	A
TMEM88B	643965	genome.wustl.edu	37	1	1361531	1361533	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	GGA	GGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:1361531_1361533delGGA	ENST00000378821.3	+	1	24_26	c.24_26delGGA	c.(22-27)acggag>acg	p.E12del		NM_001146685.1	NP_001140157.1	A6NKF7	TM88B_HUMAN	transmembrane protein 88B	12	Poly-Glu.					integral component of membrane (GO:0016021)											GGAGGGAGACGGAGGAGGAGGAG	0.7																																																	0										16,8,2634		2,0,12,2,4,1309						-1.9	0.0			23	1,9,5546		0,0,1,1,7,2769	no	codingComplex	TMEM88B	NM_001146685.1		2,0,13,3,11,4078	A1A1,A1A2,A1R,A2A2,A2R,RR		0.18,0.9029,0.4139				17,17,8180				SO:0001651	inframe_deletion	0				CCDS57964.1	1p36.33	2013-01-16			ENSG00000205116	ENSG00000205116			37099	protein-coding gene	gene with protein product							Standard	NM_001146685		Approved		uc010nyp.2	A6NKF7	OTTHUMG00000153395	ENST00000378821.3:c.24_26delGGA	1.37:g.1361540_1361542delGGA	ENSP00000455099:p.Glu12del			In_Frame_Del	DEL	NULL	p.E12in_frame_del	ENST00000378821.3	37	c.24_26	CCDS57964.1	1																																																																																			TMEM88B	-	NULL	ENSG00000205116		0.700	TMEM88B-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TMEM88B	HGNC	protein_coding	OTTHUMT00000331012.2		0.00	30	0	GGA	NM_001146685		1361533	+1	tier1		no_errors	ENST00000378821	ensembl	human	novel	74_37	in_frame_del	15.38	11	2	DEL	0.001:0.809:0.920	-
TNFSF9	8744	genome.wustl.edu	37	19	6534855	6534855	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr19:6534855G>C	ENST00000245817.3	+	3	581	c.543G>C	c.(541-543)ttG>ttC	p.L181F		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	181					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						CCCTGGCTTTGACCGTGGACC	0.721																																																	0													16.0	18.0	18.0					19																	6534855		2196	4288	6484	SO:0001583	missense	0			U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"""Tumor necrosis factor (ligand) superfamily"""	11939	protein-coding gene	gene with protein product	"""receptor 4-1BB ligand"", ""homolog of mouse 4-1BB-L"""	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.543G>C	19.37:g.6534855G>C	ENSP00000245817:p.Leu181Phe		Q2M3S2	Missense_Mutation	SNP	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom	p.L181F	ENST00000245817.3	37	c.543	CCDS12169.1	19	.	.	.	.	.	.	.	.	.	.	g	16.04	3.009214	0.54361	.	.	ENSG00000125657	ENST00000245817	D	0.94650	-3.48	3.69	-0.253	0.12996	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.196266	0.24568	U	0.037408	D	0.94278	0.8162	M	0.66939	2.045	0.09310	N	1	D	0.62365	0.991	P	0.53490	0.727	D	0.89033	0.3443	10	0.66056	D	0.02	-8.5903	10.95	0.47323	0.0:0.5785:0.4215:0.0	.	181	P41273	TNFL9_HUMAN	F	181	ENSP00000245817:L181F	ENSP00000245817:L181F	L	+	3	2	TNFSF9	6485855	0.001000	0.12720	0.012000	0.15200	0.022000	0.10575	0.167000	0.16602	0.325000	0.23359	0.537000	0.68136	TTG	TNFSF9	-	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom	ENSG00000125657		0.721	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF9	HGNC	protein_coding	OTTHUMT00000457856.1	-	0.00	34	0	G	NM_003811		6534855	+1	tier1	-	no_errors	ENST00000245817	ensembl	human	known	74_37	missense	26.92	19	7	SNP	0.017	C
TP53	7157	genome.wustl.edu	37	17	7574035	7574035	+	Splice_Site	SNP	T	T	G			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:7574035T>G	ENST00000269305.4	-	10	1183		c.e10-2		TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	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						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.?(10)|p.0?(8)|p.I332fs*49(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)	CCCACGGATCTGCAGCAACAG	0.507		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"""	19	Unknown(10)|Whole gene deletion(8)|Insertion - Frameshift(1)	lung(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|central_nervous_system(2)|liver(2)|stomach(1)|breast(1)											44.0	36.0	38.0					17																	7574035		2203	4300	6503	SO:0001630	splice_region_variant	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;	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.994-2A>C	17.37:g.7574035T>G			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	Splice_Site	SNP	-	e9-2	ENST00000269305.4	37	c.994-2	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	12.33	1.904238	0.33628	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1784	0.59641	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7514760	1.000000	0.71417	0.937000	0.37676	0.131000	0.20780	6.590000	0.74085	2.061000	0.61500	0.459000	0.35465	.	TP53	-	-	ENSG00000141510		0.507	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	36	0	T	NM_000546	Intron	7574035	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	72.73	3	8	SNP	1.000	G
TP53TG3D	729264	genome.wustl.edu	37	16	32266327	32266327	+	IGR	SNP	A	A	G			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:32266327A>G	ENST00000354614.3	+	0	412				TP53TG3D_ENST00000564810.1_3'UTR|RP11-56L13.7_ENST00000562604.1_RNA|TP53TG3D_ENST00000398664.3_3'UTR|TP53TG3D_ENST00000569631.1_3'UTR			Q9ULZ0	T53G3_HUMAN	TP53 target 3D							cytoplasm (GO:0005737)|nucleus (GO:0005634)											tctctggagcatcaatattac	0.423																																																	0																																										SO:0001628	intergenic_variant	0				CCDS58456.1	16p11.2	2012-12-11			ENSG00000205456	ENSG00000205456			44657	protein-coding gene	gene with protein product							Standard	NM_001243722		Approved		uc021tgy.1	Q9ULZ0	OTTHUMG00000132469		16.37:g.32266327A>G			B2R5K6|Q4KN31|Q9ULY9	RNA	SNP	-	NULL	ENST00000354614.3	37	NULL		16																																																																																			TP53TG3D	-	-	ENSG00000205456		0.423	TP53TG3D-201	KNOWN	basic|appris_candidate_longest	protein_coding	TP53TG3D	HGNC	protein_coding		-	0.00	65	0	A	NM_001243722		32266327	+1	tier1	-	no_errors	ENST00000564810	ensembl	human	known	74_37	rna	30.61	34	15	SNP	0.282	G
TPR	7175	genome.wustl.edu	37	1	186324664	186324664	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:186324664T>A	ENST00000367478.4	-	17	2345	c.2049A>T	c.(2047-2049)aaA>aaT	p.K683N	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	683					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTTTTTCTTTTTTGTAGTTCT	0.328			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	0													86.0	77.0	80.0					1																	186324664		1793	4068	5861	SO:0001583	missense	0			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.2049A>T	1.37:g.186324664T>A	ENSP00000356448:p.Lys683Asn		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.K683N	ENST00000367478.4	37	c.2049	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.746965	0.69418	.	.	ENSG00000047410	ENST00000367478	T	0.18810	2.19	5.22	2.92	0.33932	.	0.047201	0.85682	D	0.000000	T	0.38268	0.1034	M	0.72894	2.215	0.45216	D	0.998227	D	0.76494	0.999	D	0.64144	0.922	T	0.17198	-1.0377	10	0.72032	D	0.01	.	8.2293	0.31589	0.0:0.2245:0.0:0.7755	.	683	P12270	TPR_HUMAN	N	683	ENSP00000356448:K683N	ENSP00000356448:K683N	K	-	3	2	TPR	184591287	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.996000	0.29719	0.956000	0.37904	0.482000	0.46254	AAA	TPR	-	NULL	ENSG00000047410		0.328	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	-	0.00	88	0	T	NM_003292		186324664	-1	tier1	-	no_errors	ENST00000367478	ensembl	human	known	74_37	missense	51.43	34	36	SNP	1.000	A
TPRXL	348825	genome.wustl.edu	37	3	14105969	14105970	+	In_Frame_Ins	INS	-	-	CAA			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr3:14105969_14105970insCAA	ENST00000424053.1	+	3	840_841	c.293_294insCAA	c.(292-297)agcagc>agCAAcagc	p.98_99SS>SNS	TPRXL_ENST00000429201.1_In_Frame_Ins_p.98_99SS>SNS|TPRXL_ENST00000532753.1_Intron|TPRXL_ENST00000326972.8_In_Frame_Ins_p.98_99SS>SNS			Q17RH7	TPRXL_HUMAN	tetra-peptide repeat homeobox-like	0	Ser-rich.									endometrium(1)	1						agctctagcagcagcagcagca	0.673																																																	0																																										SO:0001652	inframe_insertion	0			AK092426		3p25.1	2011-06-20			ENSG00000180438	ENSG00000180438		"""Homeoboxes / PRD class"""	32178	pseudogene	pseudogene		611167					Standard	NR_002223		Approved	FLJ35107	uc003byg.3	Q17RH7	OTTHUMG00000155509	Exception_encountered	3.37:g.14105969_14105970insCAA	ENSP00000400448:p.Ser98_Ser99insAsn		Q8NAM5	In_Frame_Ins	INS	NULL	p.99in_frame_insN	ENST00000424053.1	37	c.293_294		3																																																																																			TPRXL	-	NULL	ENSG00000180438		0.673	TPRXL-003	KNOWN	alternative_5_UTR|basic|appris_principal	protein_coding	TPRXL	HGNC	protein_coding	OTTHUMT00000340436.1		0.00	39	0	-	NR_002223		14105970	+1	tier1		no_errors	ENST00000326972	ensembl	human	known	74_37	in_frame_ins	14.29	12	2	INS	0.643:0.292	CAA
TRIM34	53840	genome.wustl.edu	37	11	5655862	5655862	+	Splice_Site	SNP	A	A	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr11:5655862A>T	ENST00000514226.1	+	4	858	c.521A>T	c.(520-522)tAt>tTt	p.Y174F	HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Splice_Site_p.Y528F|TRIM6-TRIM34_ENST00000457787.2_Splice_Site_p.Y174F|TRIM34_ENST00000429814.2_Splice_Site_p.Y174F	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	174					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTTGCAGTATCAGGTACAA	0.388																																																	0													46.0	44.0	45.0					11																	5655862		2201	4297	6498	SO:0001630	splice_region_variant	0			AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.520-1A>T	11.37:g.5655862A>T			D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.Y528F	ENST00000514226.1	37	c.1583	CCDS31391.1	11	.	.	.	.	.	.	.	.	.	.	A	8.945	0.966876	0.18659	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.04654	3.58;3.58;3.58;3.58	3.78	-0.17	0.13335	.	7739.210000	0.00166	N	0.000000	T	0.06554	0.0168	L	0.51422	1.61	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.10450	0.005;0.002;0.001	T	0.40924	-0.9537	10	0.56958	D	0.05	.	3.6257	0.08112	0.5936:0.1941:0.2123:0.0	.	174;174;528	Q9BYJ4-2;Q9BYJ4;B2RNG4	.;TRI34_HUMAN;.	F	528;174;174;174;528	ENSP00000422947:Y174F;ENSP00000402595:Y174F;ENSP00000395982:Y174F;ENSP00000346916:Y528F	ENSP00000402595:Y174F	Y	+	2	0	TRIM34;TRIM6-TRIM34	5612438	0.000000	0.05858	0.000000	0.03702	0.785000	0.44390	-0.078000	0.11375	-0.032000	0.13758	0.533000	0.62120	TAT	TRIM6-TRIM34	-	NULL	ENSG00000258588		0.388	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM6-TRIM34	HGNC	protein_coding	OTTHUMT00000143357.2	-	0.00	43	0	A	NM_001003827	Missense_Mutation	5655862	+1	tier1	-	no_errors	ENST00000354852	ensembl	human	known	74_37	missense	22.73	17	5	SNP	0.001	T
TRPM3	80036	genome.wustl.edu	37	9	73213386	73213386	+	Silent	SNP	G	G	T	rs34994337	byFrequency	TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr9:73213386G>T	ENST00000377111.2	-	20	3204	c.2961C>A	c.(2959-2961)atC>atA	p.I987I	TRPM3_ENST00000377105.1_Silent_p.I846I|TRPM3_ENST00000423814.3_Silent_p.I1014I|TRPM3_ENST00000377106.1_Silent_p.I859I|TRPM3_ENST00000358082.3_Silent_p.I849I|TRPM3_ENST00000408909.2_Silent_p.I846I|TRPM3_ENST00000357533.2_Silent_p.I991I|TRPM3_ENST00000396285.1_Silent_p.I834I|TRPM3_ENST00000360823.2_Silent_p.I849I|TRPM3_ENST00000377110.3_Silent_p.I987I|TRPM3_ENST00000396292.4_Silent_p.I859I|TRPM3_ENST00000396280.5_Silent_p.I836I	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1012					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TCACGCCGAAGATGTCTAGGA	0.458																																																	0													131.0	131.0	131.0					9																	73213386		2203	4300	6503	SO:0001819	synonymous_variant	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2961C>A	9.37:g.73213386G>T			A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	pfam_Ion_trans_dom	p.I1014	ENST00000377111.2	37	c.3042		9	.	.	.	.	.	.	.	.	.	.	G	9.055	0.993072	0.19043	.	.	ENSG00000083067	ENST00000396280	.	.	.	4.87	2.99	0.34606	.	.	.	.	.	T	0.60715	0.2290	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58509	-0.7624	4	.	.	.	-20.0104	11.3446	0.49552	0.2144:0.0:0.7856:0.0	.	.	.	.	I	836	.	.	L	-	1	0	TRPM3	72403206	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.781000	0.62389	1.178000	0.42870	0.573000	0.79308	CTT	TRPM3	-	pfam_Ion_trans_dom	ENSG00000083067		0.458	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	-	0.00	58	0	G	NM_206945		73213386	-1	tier1	-	no_errors	ENST00000423814	ensembl	human	known	74_37	silent	12.50	28	4	SNP	1.000	T
TSG101	7251	genome.wustl.edu	37	11	18502163	18502163	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr11:18502163C>T	ENST00000251968.3	-	10	1518	c.1103G>A	c.(1102-1104)cGt>cAt	p.R368H	TSG101_ENST00000357193.3_Missense_Mutation_p.R263H|TSG101_ENST00000536719.1_Intron	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	368	SB. {ECO:0000255|PROSITE- ProRule:PRU00644}.				cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						GAACTGTTTACGGGACAGAAG	0.453																																					GBM(99;1348 1396 8611 26475 50572)												0													89.0	84.0	86.0					11																	18502163		2199	4293	6492	SO:0001583	missense	0			U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.1103G>A	11.37:g.18502163C>T	ENSP00000251968:p.Arg368His		Q9BUM5	Missense_Mutation	SNP	pfam_UEV_N,pfam_Steadiness_box,superfamily_UBQ-conjugating_enzyme/RWD	p.R368H	ENST00000251968.3	37	c.1103	CCDS7842.1	11	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772090	0.90108	.	.	ENSG00000074319	ENST00000251968;ENST00000357193	T;T	0.64991	0.06;-0.13	5.78	5.78	0.91487	Steadiness box (2);	0.000000	0.85682	D	0.000000	T	0.63954	0.2555	M	0.71871	2.18	0.80722	D	1	P	0.47106	0.89	B	0.39562	0.303	T	0.70669	-0.4808	10	0.66056	D	0.02	-6.8137	18.2008	0.89838	0.0:1.0:0.0:0.0	.	368	Q99816	TS101_HUMAN	H	368;263	ENSP00000251968:R368H;ENSP00000349721:R263H	ENSP00000251968:R368H	R	-	2	0	TSG101	18458739	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.506000	0.81665	2.730000	0.93505	0.655000	0.94253	CGT	TSG101	-	pfam_Steadiness_box	ENSG00000074319		0.453	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSG101	HGNC	protein_coding	OTTHUMT00000395906.1	-	0.00	84	0	C	NM_006292		18502163	-1	tier1	-	no_errors	ENST00000251968	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T
TSGA10	80705	genome.wustl.edu	37	2	99720450	99720450	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:99720450T>A	ENST00000393483.3	-	10	1435	c.591A>T	c.(589-591)aaA>aaT	p.K197N	TSGA10_ENST00000542655.1_Missense_Mutation_p.K197N|TSGA10_ENST00000355053.4_Missense_Mutation_p.K197N|TSGA10_ENST00000539964.1_Missense_Mutation_p.K197N|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000410001.1_Missense_Mutation_p.K197N	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	197					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TATTCTCTGCTTTTTGTCTGC	0.318																																																	0													226.0	203.0	211.0					2																	99720450		2202	4299	6501	SO:0001583	missense	0			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.591A>T	2.37:g.99720450T>A	ENSP00000377123:p.Lys197Asn		B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	NULL	p.K197N	ENST00000393483.3	37	c.591	CCDS2037.1	2	.	.	.	.	.	.	.	.	.	.	T	18.58	3.654326	0.67472	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.14	4.0	0.46444	.	0.000000	0.64402	D	0.000009	T	0.60340	0.2261	L	0.58810	1.83	0.43489	D	0.99572	D;D	0.71674	0.998;0.998	D;D	0.64321	0.924;0.924	T	0.57376	-0.7822	10	0.31617	T	0.26	-26.6655	6.5125	0.22230	0.0:0.1834:0.0:0.8166	.	197;197	B7Z925;Q9BZW7	.;TSG10_HUMAN	N	197	ENSP00000377123:K197N;ENSP00000386956:K197N;ENSP00000347161:K197N;ENSP00000444419:K197N;ENSP00000386508:K197N;ENSP00000377122:K197N;ENSP00000445623:K197N	ENSP00000347161:K197N	K	-	3	2	TSGA10	99086882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.615000	0.36922	0.995000	0.38917	0.529000	0.55759	AAA	TSGA10	-	NULL	ENSG00000135951		0.318	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA10	HGNC	protein_coding	OTTHUMT00000253125.1	-	0.00	117	0	T	NM_182911		99720450	-1	tier1	-	no_errors	ENST00000355053	ensembl	human	known	74_37	missense	6.33	74	5	SNP	1.000	A
TTC28	23331	genome.wustl.edu	37	22	28503113	28503113	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr22:28503113G>A	ENST00000397906.2	-	7	2861	c.2720C>T	c.(2719-2721)gCg>gTg	p.A907V		NM_001145418.1	NP_001138890.1	Q96AY4	TTC28_HUMAN	tetratricopeptide repeat domain 28	907					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)	12						CAGACTCTGCGCGACAGATAA	0.498																																																	0													85.0	73.0	77.0					22																	28503113		692	1591	2283	SO:0001583	missense	0			AB028966	CCDS46678.1	22q12.1	2013-01-10			ENSG00000100154	ENSG00000100154		"""Tetratricopeptide (TTC) repeat domain containing"""	29179	protein-coding gene	gene with protein product		615098				10470851	Standard	NM_001145418		Approved	KIAA1043	uc003adp.4	Q96AY4	OTTHUMG00000151006	ENST00000397906.2:c.2720C>T	22.37:g.28503113G>A	ENSP00000381003:p.Ala907Val		K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A907V	ENST00000397906.2	37	c.2720	CCDS46678.1	22	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499583	0.85176	.	.	ENSG00000100154	ENST00000397906	T	0.76060	-0.99	5.65	5.65	0.86999	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.058941	0.64402	D	0.000002	D	0.88202	0.6373	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86792	0.1986	10	0.30078	T	0.28	-20.3497	18.7154	0.91673	0.0:0.0:1.0:0.0	.	907	Q96AY4	TTC28_HUMAN	V	907	ENSP00000381003:A907V	ENSP00000381003:A907V	A	-	2	0	TTC28	26833113	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.238000	0.95380	2.646000	0.89796	0.655000	0.94253	GCG	TTC28	-	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000100154		0.498	TTC28-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	TTC28	HGNC	protein_coding	OTTHUMT00000320930.2		0.00	70	0	G	XM_929318		28503113	-1			no_errors	ENST00000397906	ensembl	human	novel	74_37	missense	5.26	54	3	SNP	1.000	A
TTLL13	440307	genome.wustl.edu	37	15	90805255	90805255	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr15:90805255C>T	ENST00000438251.1	+	11	1660	c.1370C>T	c.(1369-1371)tCa>tTa	p.S457L	RP11-697E2.6_ENST00000561573.1_3'UTR					tubulin tyrosine ligase-like family, member 13											NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			AAAACTGAGTCATCCCATGTG	0.502																																																	0																																										SO:0001583	missense	0			BC036668		15q26.1	2013-02-14				ENSG00000213471		"""Tubulin tyrosine ligase-like family"""	32484	protein-coding gene	gene with protein product						15890843	Standard	NR_104604		Approved	FLJ46079, MGC33417	uc002bpd.1	A6NNM8		ENST00000438251.1:c.1370C>T	15.37:g.90805255C>T	ENSP00000413362:p.Ser457Leu			Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.S457L	ENST00000438251.1	37	c.1370		15	.	.	.	.	.	.	.	.	.	.	C	9.452	1.090792	0.20471	.	.	ENSG00000213471	ENST00000438251	T	0.03772	3.81	5.7	-0.646	0.11472	.	.	.	.	.	T	0.03871	0.0109	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.47611	-0.9104	6	0.26408	T	0.33	.	6.1345	0.20223	0.1173:0.4631:0.0:0.4195	.	.	.	.	L	457	ENSP00000413362:S457L	ENSP00000413362:S457L	S	+	2	0	TTLL13	88606259	0.008000	0.16893	0.001000	0.08648	0.017000	0.09413	0.261000	0.18442	-0.127000	0.11661	-0.157000	0.13467	TCA	TTLL13	-	NULL	ENSG00000213471		0.502	TTLL13-201	KNOWN	basic	protein_coding	TTLL13	HGNC	protein_coding		-	0.00	74	0	C	NM_001029964		90805255	+1	tier1	-	no_errors	ENST00000438251	ensembl	human	known	74_37	missense	35.48	40	22	SNP	0.027	T
TTN	7273	genome.wustl.edu	37	2	179451855	179451855	+	Silent	SNP	T	T	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:179451855T>C	ENST00000591111.1	-	257	59384	c.59160A>G	c.(59158-59160)tcA>tcG	p.S19720S	TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Silent_p.S18793S|TTN_ENST00000359218.5_Silent_p.S12421S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Silent_p.S21361S|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.S12488S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.S12296S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19720	Fibronectin type-III 42. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TTAGAGGATCTGATGCAAGCA	0.418																																																	0													190.0	190.0	190.0					2																	179451855		1915	4116	6031	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.59160A>G	2.37:g.179451855T>C			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	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S18793	ENST00000591111.1	37	c.56379		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom	ENSG00000155657		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	69	0	T	NM_133378		179451855	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.993	C
TTN	7273	genome.wustl.edu	37	2	179659182	179659182	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:179659182G>T	ENST00000591111.1	-	8	1566	c.1342C>A	c.(1342-1344)Cag>Aag	p.Q448K	TTN_ENST00000342992.6_Missense_Mutation_p.Q448K|TTN_ENST00000359218.5_Missense_Mutation_p.Q448K|TTN_ENST00000589042.1_Missense_Mutation_p.Q448K|TTN_ENST00000360870.5_Missense_Mutation_p.Q448K|TTN_ENST00000342175.6_Missense_Mutation_p.Q448K|TTN_ENST00000460472.2_Missense_Mutation_p.Q448K			Q8WZ42	TITIN_HUMAN	titin	0					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)			TGAGCAGTCTGCTCTACAGCG	0.552																																																	0													211.0	189.0	196.0					2																	179659182		2203	4300	6503	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.1342C>A	2.37:g.179659182G>T	ENSP00000465570:p.Gln448Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.Q448K	ENST00000591111.1	37	c.1342		2	.	.	.	.	.	.	.	.	.	.	G	14.49	2.552151	0.45487	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76	5.87	4.95	0.65309	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.38532	0.1044	N	0.19112	0.55	0.22728	N	0.998801	B;B;B;B;P	0.42296	0.201;0.201;0.201;0.201;0.775	B;B;B;B;B	0.41412	0.089;0.089;0.089;0.089;0.356	T	0.37244	-0.9714	9	0.87932	D	0	.	14.7473	0.69499	0.0:0.2625:0.7374:0.0	.	448;448;448;448;448	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	448;448;448;448;448;448;44	ENSP00000343764:Q448K;ENSP00000434586:Q448K;ENSP00000340554:Q448K;ENSP00000352154:Q448K;ENSP00000354117:Q448K;ENSP00000405517:Q44K	ENSP00000340554:Q448K	Q	-	1	0	TTN	179367427	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.429000	0.52800	2.780000	0.95670	0.655000	0.94253	CAG	TTN	-	pfam_Titin_Z,superfamily_RNaseH-like_dom	ENSG00000155657		0.552	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	52	0	G	NM_133378		179659182	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T
UACA	55075	genome.wustl.edu	37	15	70960127	70960127	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr15:70960127C>T	ENST00000322954.6	-	16	3081	c.2896G>A	c.(2896-2898)Gaa>Aaa	p.E966K	UACA_ENST00000379983.2_Missense_Mutation_p.E953K|UACA_ENST00000539319.1_Missense_Mutation_p.E857K|UACA_ENST00000560441.1_Missense_Mutation_p.E951K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	966					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GCTTTAATTTCGGCATGCAGT	0.433																																																	0													172.0	160.0	164.0					15																	70960127		2199	4298	6497	SO:0001583	missense	0			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2896G>A	15.37:g.70960127C>T	ENSP00000314556:p.Glu966Lys		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.E966K	ENST00000322954.6	37	c.2896	CCDS10235.1	15	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556977	0.86231	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.81163	-1.46;-1.46;-1.46	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000003	D	0.89563	0.6751	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;P;P;D	0.85130	0.982;0.879;0.879;0.997	D	0.87147	0.2206	10	0.37606	T	0.19	-35.4893	20.3932	0.98965	0.0:1.0:0.0:0.0	.	857;966;966;953	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	K	966;953;857	ENSP00000314556:E966K;ENSP00000369319:E953K;ENSP00000438667:E857K	ENSP00000314556:E966K	E	-	1	0	UACA	68747181	1.000000	0.71417	0.679000	0.29978	0.657000	0.38888	7.395000	0.79876	2.824000	0.97209	0.655000	0.94253	GAA	UACA	-	NULL	ENSG00000137831		0.433	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2		0.00	49	0	C			70960127	-1			no_errors	ENST00000322954	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T
UBR2	23304	genome.wustl.edu	37	6	42652546	42652546	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr6:42652546C>A	ENST00000372899.1	+	44	5048	c.4790C>A	c.(4789-4791)tCt>tAt	p.S1597Y	UBR2_ENST00000372901.1_Missense_Mutation_p.S1597Y|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1597					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CCAAGAGAATCTAACAAATTA	0.358																																																	0													54.0	56.0	55.0					6																	42652546		2202	4300	6502	SO:0001583	missense	0			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.4790C>A	6.37:g.42652546C>A	ENSP00000361990:p.Ser1597Tyr		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.S1597Y	ENST00000372899.1	37	c.4790	CCDS4870.1	6	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712960	0.68730	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.49720	0.77;0.77	5.64	4.76	0.60689	.	0.109626	0.64402	D	0.000004	T	0.53899	0.1825	M	0.79926	2.475	0.80722	D	1	D;B	0.53151	0.958;0.245	P;B	0.53360	0.724;0.163	T	0.62723	-0.6794	10	0.56958	D	0.05	-11.6023	15.8697	0.79101	0.1367:0.8632:0.0:0.0	.	1597;1597	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	Y	1597	ENSP00000361990:S1597Y;ENSP00000361992:S1597Y	ENSP00000361990:S1597Y	S	+	2	0	UBR2	42760524	0.627000	0.27129	1.000000	0.80357	0.995000	0.86356	2.164000	0.42387	1.346000	0.45694	0.643000	0.83706	TCT	UBR2	-	NULL	ENSG00000024048		0.358	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	HGNC	protein_coding	OTTHUMT00000040558.2	-	0.00	166	0	C	NM_015255		42652546	+1	tier1	-	no_errors	ENST00000372899	ensembl	human	known	74_37	missense	6.74	83	6	SNP	0.997	A
UNC13C	440279	genome.wustl.edu	37	15	54916018	54916018	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr15:54916018G>T	ENST00000260323.11	+	31	6225	c.6225G>T	c.(6223-6225)tgG>tgT	p.W2075C	UNC13C_ENST00000537900.1_Missense_Mutation_p.W2073C|UNC13C_ENST00000539562.2_5'UTR|UNC13C_ENST00000545554.1_Missense_Mutation_p.W2075C	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2075	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACCTAAACTGGCAGACCACAG	0.358																																																	0													78.0	74.0	75.0					15																	54916018		1837	4087	5924	SO:0001583	missense	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.6225G>T	15.37:g.54916018G>T	ENSP00000260323:p.Trp2075Cys		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.W2075C	ENST00000260323.11	37	c.6225	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265473	0.59431	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.68903	-0.36;-0.36;-0.36	5.72	5.72	0.89469	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.062950	0.64402	D	0.000002	D	0.83995	0.5375	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85688	0.1305	10	0.87932	D	0	.	18.8767	0.92341	0.0:0.0:1.0:0.0	.	2075	Q8NB66	UN13C_HUMAN	C	2075;2075;2073	ENSP00000260323:W2075C;ENSP00000438156:W2075C;ENSP00000442569:W2073C	ENSP00000260323:W2075C	W	+	3	0	UNC13C	52703310	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	9.738000	0.98835	2.700000	0.92200	0.563000	0.77884	TGG	UNC13C	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000137766		0.358	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0.00	106	0	G	NM_173166		54916018	+1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T
UPP1	7378	genome.wustl.edu	37	7	48147845	48147845	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr7:48147845G>T	ENST00000331803.4	+	10	1447	c.824G>T	c.(823-825)cGc>cTc	p.R275L	UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000341253.4_Missense_Mutation_p.R275L|UPP1_ENST00000395564.4_Missense_Mutation_p.R275L|UPP1_ENST00000429491.2_Missense_Mutation_p.R138L			Q16831	UPP1_HUMAN	uridine phosphorylase 1	275					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	CTCCTGAACCGCCTGGAAGGG	0.582																																																	0													91.0	87.0	88.0					7																	48147845		2203	4300	6503	SO:0001583	missense	0			AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"""uridine phosphorylase"""	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.824G>T	7.37:g.48147845G>T	ENSP00000330032:p.Arg275Leu		D3DVM4|Q15362	Missense_Mutation	SNP	pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk	p.R275L	ENST00000331803.4	37	c.824	CCDS5507.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.544266	0.96488	.	.	ENSG00000183696	ENST00000331803;ENST00000341253;ENST00000395564;ENST00000429491	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.4	5.4	0.78164	Nucleoside phosphorylase domain (1);	0.000000	0.85682	D	0.000000	T	0.75250	0.3824	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82914	-0.0221	10	0.87932	D	0	-31.4235	18.1763	0.89762	0.0:0.0:1.0:0.0	.	138;275	Q86Y75;Q16831	.;UPP1_HUMAN	L	275;275;275;138	ENSP00000330032:R275L;ENSP00000342878:R275L;ENSP00000378931:R275L;ENSP00000406224:R138L	ENSP00000330032:R275L	R	+	2	0	UPP1	48114370	1.000000	0.71417	0.973000	0.42090	0.956000	0.61745	9.359000	0.97115	2.525000	0.85131	0.650000	0.86243	CGC	UPP1	-	pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk	ENSG00000183696		0.582	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPP1	HGNC	protein_coding	OTTHUMT00000251360.1	-	0.00	86	0	G	NM_003364		48147845	+1	tier1	-	no_errors	ENST00000331803	ensembl	human	known	74_37	missense	36.90	52	31	SNP	1.000	T
USH2A	7399	genome.wustl.edu	37	1	216052369	216052369	+	Silent	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr1:216052369G>A	ENST00000307340.3	-	42	8681	c.8295C>T	c.(8293-8295)caC>caT	p.H2765H	USH2A_ENST00000366943.2_Silent_p.H2765H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2765	Fibronectin type-III 14. {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)		TTAAAGTGATGTGAGGGTCAG	0.413										HNSCC(13;0.011)																																							0													161.0	160.0	161.0					1																	216052369		2203	4300	6503	SO:0001819	synonymous_variant	0			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.8295C>T	1.37:g.216052369G>A			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	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.H2765	ENST00000307340.3	37	c.8295	CCDS31025.1	1																																																																																			USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0.00	73	0	G	NM_007123		216052369	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	silent	15.69	43	8	SNP	0.001	A
USP34	9736	genome.wustl.edu	37	2	61493302	61493302	+	Splice_Site	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr2:61493302C>T	ENST00000398571.2	-	42	5510	c.5434G>A	c.(5434-5436)Gaa>Aaa	p.E1812K		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1812					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTCAAAAATTCCTGGGGAGTA	0.363																																																	0													47.0	44.0	45.0					2																	61493302		1821	4069	5890	SO:0001630	splice_region_variant	0			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.5434-1G>A	2.37:g.61493302C>T			A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.E1812K	ENST00000398571.2	37	c.5434	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626481	0.46840	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	T;T	0.03951	3.9;3.75	5.44	5.44	0.79542	Armadillo-type fold (1);	0.056177	0.64402	D	0.000001	T	0.08358	0.0208	L	0.57536	1.79	0.53688	D	0.999975	B	0.11235	0.004	B	0.08055	0.003	T	0.11690	-1.0577	10	0.37606	T	0.19	.	17.4509	0.87592	0.0:1.0:0.0:0.0	.	1812	Q70CQ2	UBP34_HUMAN	K	1660;1660;1812;90	ENSP00000381577:E1812K;ENSP00000410559:E90K	ENSP00000263989:E1660K	E	-	1	0	USP34	61346806	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	6.585000	0.74062	2.553000	0.86117	0.563000	0.77884	GAA	USP34	-	superfamily_ARM-type_fold	ENSG00000115464		0.363	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	-	0.00	54	0	C		Missense_Mutation	61493302	-1	tier1	-	no_errors	ENST00000398571	ensembl	human	known	74_37	missense	10.42	43	5	SNP	1.000	T
USP5	8078	genome.wustl.edu	37	12	6975191	6975191	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr12:6975191C>T	ENST00000229268.8	+	20	2579	c.2527C>T	c.(2527-2529)Ccg>Tcg	p.P843S	USP5_ENST00000389231.5_Missense_Mutation_p.P820S|TPI1_ENST00000229270.4_5'Flank|TPI1_ENST00000488464.2_5'Flank|TPI1_ENST00000396705.5_5'Flank|TPI1_ENST00000535434.1_5'Flank	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	843	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CTCCGAGAAGCCGCCCAAGGA	0.537																																																	0													108.0	102.0	104.0					12																	6975191		2203	4300	6503	SO:0001583	missense	0			U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.2527C>T	12.37:g.6975191C>T	ENSP00000229268:p.Pro843Ser		D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.P843S	ENST00000229268.8	37	c.2527	CCDS41743.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.185094	0.94885	.	.	ENSG00000111667	ENST00000229268;ENST00000389231	T;T	0.28895	1.59;1.59	4.9	4.9	0.64082	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.049820	0.85682	D	0.000000	T	0.64800	0.2631	M	0.91038	3.17	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.74023	0.98;0.982	T	0.73563	-0.3943	10	0.62326	D	0.03	-5.0767	18.2591	0.90028	0.0:1.0:0.0:0.0	.	843;820	P45974;P45974-2	UBP5_HUMAN;.	S	843;820	ENSP00000229268:P843S;ENSP00000373883:P820S	ENSP00000229268:P843S	P	+	1	0	USP5	6845452	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	7.651000	0.83577	2.539000	0.85634	0.561000	0.74099	CCG	USP5	-	pfam_Peptidase_C19/C67,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67	ENSG00000111667		0.537	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP5	HGNC	protein_coding	OTTHUMT00000402982.1		0.00	85	0	C			6975191	+1			no_errors	ENST00000229268	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T
VAV1	7409	genome.wustl.edu	37	19	6833223	6833223	+	Missense_Mutation	SNP	G	G	T	rs150058721		TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr19:6833223G>T	ENST00000602142.1	+	16	1619	c.1537G>T	c.(1537-1539)Gcc>Tcc	p.A513S	VAV1_ENST00000596764.1_Missense_Mutation_p.A481S|VAV1_ENST00000539284.1_Missense_Mutation_p.A416S|VAV1_ENST00000599806.1_Missense_Mutation_p.A458S|VAV1_ENST00000304076.2_Missense_Mutation_p.A513S	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	513					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GAATGCCACCGCCAACGGGCA	0.453																																																	0													54.0	49.0	51.0					19																	6833223		2203	4300	6503	SO:0001583	missense	0				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1537G>T	19.37:g.6833223G>T	ENSP00000472929:p.Ala513Ser		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin	p.A513S	ENST00000602142.1	37	c.1537	CCDS12174.1	19	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704695	0.48412	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.75938	0.01;-0.98	4.85	4.85	0.62838	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.74359	0.3706	L	0.52126	1.63	0.51012	D	0.999902	P;P;B;B	0.47962	0.872;0.903;0.03;0.107	P;P;B;B	0.50082	0.63;0.604;0.052;0.05	T	0.70189	-0.4940	10	0.14656	T	0.56	.	15.4697	0.75432	0.0:0.0:1.0:0.0	.	416;513;458;513	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	S	513;416	ENSP00000302269:A513S;ENSP00000443242:A416S	ENSP00000302269:A513S	A	+	1	0	VAV1	6784223	1.000000	0.71417	0.882000	0.34594	0.556000	0.35491	3.979000	0.56888	2.242000	0.73789	0.650000	0.86243	GCC	VAV1	-	NULL	ENSG00000141968		0.453	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV1	HGNC	protein_coding	OTTHUMT00000458475.1		0.00	104	0	G			6833223	+1			no_errors	ENST00000602142	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.991	T
VNN1	8876	genome.wustl.edu	37	6	133014172	133014172	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr6:133014172T>C	ENST00000367928.4	-	4	830	c.817A>G	c.(817-819)Aaa>Gaa	p.K273E		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	273	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		CCTGTCATTTTCTTTGAGGGG	0.378																																																	0													102.0	92.0	95.0					6																	133014172		2203	4300	6503	SO:0001583	missense	0			AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"""Vanins"""	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.817A>G	6.37:g.133014172T>C	ENSP00000356905:p.Lys273Glu		A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	p.K273E	ENST00000367928.4	37	c.817	CCDS5159.1	6	.	.	.	.	.	.	.	.	.	.	T	0.860	-0.735459	0.03111	.	.	ENSG00000112299	ENST00000367928	D	0.85411	-1.98	6.17	3.83	0.44106	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	1.212130	0.05481	N	0.554881	T	0.69771	0.3148	M	0.61703	1.905	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.57745	-0.7758	10	0.36615	T	0.2	-26.02	5.3343	0.15949	0.0921:0.0671:0.262:0.5789	.	273	O95497	VNN1_HUMAN	E	273	ENSP00000356905:K273E	ENSP00000356905:K273E	K	-	1	0	VNN1	133055865	0.000000	0.05858	0.001000	0.08648	0.055000	0.15305	-0.151000	0.10175	1.107000	0.41642	0.533000	0.62120	AAA	VNN1	-	superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	ENSG00000112299		0.378	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VNN1	HGNC	protein_coding	OTTHUMT00000042263.1	-	0.00	67	0	T			133014172	-1	tier1	-	no_errors	ENST00000367928	ensembl	human	known	74_37	missense	16.67	30	6	SNP	0.000	C
VPS53	55275	genome.wustl.edu	37	17	526849	526849	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:526849G>A	ENST00000571805.1	-	11	1176	c.1040C>T	c.(1039-1041)gCt>gTt	p.A347V	VPS53_ENST00000446250.2_Missense_Mutation_p.A149V|VPS53_ENST00000291074.5_Missense_Mutation_p.A318V|VPS53_ENST00000437048.2_Missense_Mutation_p.A347V|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000576149.1_5'UTR			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	347					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TCTTTGAATAGCAAAAAGAAG	0.443																																																	0													96.0	89.0	91.0					17																	526849		2203	4300	6503	SO:0001583	missense	0				CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1040C>T	17.37:g.526849G>A	ENSP00000459312:p.Ala347Val		A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54	p.A347V	ENST00000571805.1	37	c.1040		17	.	.	.	.	.	.	.	.	.	.	G	35	5.523351	0.96431	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074;ENST00000389040	T;T;T;T	0.38240	1.15;1.15;1.15;1.18	5.7	5.7	0.88788	Vps53-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65291	0.2677	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.998;0.998	D;D;D;D	0.73380	0.956;0.967;0.98;0.967	T	0.69312	-0.5178	10	0.87932	D	0	-15.5884	18.8293	0.92132	0.0:0.0:1.0:0.0	.	347;149;347;318	Q5VIR6-4;G3V0H8;Q5VIR6;Q5VIR6-2	.;.;VPS53_HUMAN;.	V	347;149;318;299	ENSP00000401435:A347V;ENSP00000394386:A149V;ENSP00000291074:A318V;ENSP00000373692:A299V	ENSP00000291074:A318V	A	-	2	0	VPS53	473599	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.683000	0.91414	0.655000	0.94253	GCT	VPS53	-	pfam_Vps53_N	ENSG00000141252		0.443	VPS53-006	KNOWN	basic	protein_coding	VPS53	HGNC	protein_coding	OTTHUMT00000436940.2	-	0.00	121	0	G	NM_018289		526849	-1	tier1	-	no_errors	ENST00000437048	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	A
WDR59	79726	genome.wustl.edu	37	16	74990506	74990506	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:74990506C>T	ENST00000262144.6	-	3	237	c.107G>A	c.(106-108)cGc>cAc	p.R36H	WDR59_ENST00000562331.1_5'UTR	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	36										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TAAGAATCTGCGGCTAGAGAC	0.403																																																	0													84.0	79.0	80.0					16																	74990506		2198	4300	6498	SO:0001583	missense	0			AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.107G>A	16.37:g.74990506C>T	ENSP00000262144:p.Arg36His		B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R36H	ENST00000262144.6	37	c.107	CCDS32488.1	16	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731175	0.89390	.	.	ENSG00000103091	ENST00000262144;ENST00000536050	T	0.70631	-0.5	6.17	6.17	0.99709	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86205	0.5877	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	D	0.85824	0.1387	10	0.66056	D	0.02	-22.4462	20.8794	0.99867	0.0:1.0:0.0:0.0	.	36;36	Q6PJI9-2;Q6PJI9	.;WDR59_HUMAN	H	36;15	ENSP00000262144:R36H	ENSP00000262144:R36H	R	-	2	0	WDR59	73548007	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	7.016000	0.76393	2.941000	0.99782	0.655000	0.94253	CGC	WDR59	-	superfamily_WD40_repeat_dom	ENSG00000103091		0.403	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR59	HGNC	protein_coding	OTTHUMT00000410601.3		0.00	61	0	C	NM_030581		74990506	-1			no_errors	ENST00000262144	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T
WDR81	124997	genome.wustl.edu	37	17	1640737	1640737	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr17:1640737A>G	ENST00000409644.1	+	10	5584	c.5584A>G	c.(5584-5586)Acc>Gcc	p.T1862A	WDR81_ENST00000309182.5_Missense_Mutation_p.T811A|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Missense_Mutation_p.T659A|WDR81_ENST00000419248.1_Missense_Mutation_p.T635A|WDR81_ENST00000446363.1_Missense_Mutation_p.T501A|WDR81_ENST00000545662.1_Missense_Mutation_p.T493A	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1862					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCAGAAGCCCACCCATCACTA	0.612																																																	0													218.0	134.0	162.0					17																	1640737		2202	4300	6502	SO:0001583	missense	0			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.5584A>G	17.37:g.1640737A>G	ENSP00000386609:p.Thr1862Ala		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T1862A	ENST00000409644.1	37	c.5584	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	A	8.919	0.960514	0.18583	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000409644;ENST00000354680;ENST00000545662	T;T;T;T;T;T	0.01304	5.03;5.03;5.03;5.03;5.03;5.03	5.1	4.02	0.46733	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.449943	0.17866	U	0.159374	T	0.00637	0.0021	N	0.03608	-0.345	0.23991	N	0.996243	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.50101	-0.8867	10	0.10377	T	0.69	.	0.4	0.00424	0.402:0.1566:0.1472:0.2941	.	493;659;811	B7Z6V3;B7Z579;Q562E7	.;.;WDR81_HUMAN	A	659;811;501;635;1862;613;493	ENSP00000391074:T659A;ENSP00000312074:T811A;ENSP00000401560:T501A;ENSP00000407845:T635A;ENSP00000386609:T1862A;ENSP00000442726:T493A	ENSP00000312074:T811A	T	+	1	0	WDR81	1587487	0.932000	0.31603	0.960000	0.40013	0.876000	0.50452	2.342000	0.43992	1.913000	0.55393	0.528000	0.53228	ACC	WDR81	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000167716		0.612	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	-	0.00	47	0	A	NM_152348		1640737	+1	tier1	-	no_errors	ENST00000409644	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.746	G
WT1	7490	genome.wustl.edu	37	11	32456397	32456397	+	Silent	SNP	G	G	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr11:32456397G>T	ENST00000332351.3	-	1	779	c.495C>A	c.(493-495)tcC>tcA	p.S165S	WT1-AS_ENST00000395900.1_RNA|WT1-AS_ENST00000459866.1_RNA|WT1_ENST00000448076.3_Silent_p.S165S|WT1-AS_ENST00000478367.1_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000494911.1_RNA	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744	P19544	WT1_HUMAN	Wilms tumor 1	97					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TGAACTGGCCGGAAAAGTGGA	0.682			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																														yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	Wilms tumour 1 gene		O	0													17.0	19.0	18.0					11																	32456397		2198	4292	6490	SO:0001819	synonymous_variant	0	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000332351.3:c.495C>A	11.37:g.32456397G>T			A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Silent	SNP	pfam_Wilms_tumour_N,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Wilms_tumour	p.S165	ENST00000332351.3	37	c.495	CCDS7878.2	11																																																																																			WT1	-	pfam_Wilms_tumour_N	ENSG00000184937		0.682	WT1-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	WT1	HGNC	protein_coding	OTTHUMT00000095436.2		0.00	100	0	G	NM_000378		32456397	-1			no_errors	ENST00000332351	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.128	T
XCR1	2829	genome.wustl.edu	37	3	46062533	46062533	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr3:46062533G>A	ENST00000309285.3	-	2	1263	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	XCR1_ENST00000542109.1_Missense_Mutation_p.R303W	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	303					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CAGAACTGCCGGAGAACATGT	0.622																																																	0													52.0	54.0	54.0					3																	46062533		2203	4300	6503	SO:0001583	missense	0				CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"""GPCR / Class A : Chemokine receptors : X-C motif"""	1625	protein-coding gene	gene with protein product		600552	"""chemokine (C motif) XC receptor 1"""	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.907C>T	3.37:g.46062533G>A	ENSP00000310405:p.Arg303Trp			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt	p.R303W	ENST00000309285.3	37	c.907	CCDS2736.1	3	.	.	.	.	.	.	.	.	.	.	G	8.106	0.777824	0.16120	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	T;T	0.39056	1.1;1.1	5.73	1.72	0.24424	.	0.934058	0.09158	N	0.840541	T	0.20981	0.0505	N	0.08118	0	0.09310	N	1	B	0.24132	0.098	B	0.10450	0.005	T	0.20907	-1.0261	10	0.87932	D	0	.	4.128	0.10136	0.0723:0.3443:0.2604:0.323	.	303	P46094	XCR1_HUMAN	W	303	ENSP00000310405:R303W;ENSP00000438119:R303W	ENSP00000310405:R303W	R	-	1	2	XCR1	46037537	0.314000	0.24563	0.001000	0.08648	0.005000	0.04900	1.343000	0.33930	0.286000	0.22352	0.655000	0.94253	CGG	XCR1	-	prints_Chemokine_rcpt	ENSG00000173578		0.622	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XCR1	HGNC	protein_coding	OTTHUMT00000257322.2	-	0.00	70	0	G			46062533	-1	tier1	-	no_errors	ENST00000309285	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.000	A
XPO5	57510	genome.wustl.edu	37	6	43501711	43501711	+	Silent	SNP	T	T	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr6:43501711T>C	ENST00000265351.7	-	21	2586	c.2376A>G	c.(2374-2376)ctA>ctG	p.L792L		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	792					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			CCATTTTGGCTAGCATTTCTG	0.398																																																	0													142.0	136.0	138.0					6																	43501711		1837	4083	5920	SO:0001819	synonymous_variant	0			AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.2376A>G	6.37:g.43501711T>C			Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Silent	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N	p.L792	ENST00000265351.7	37	c.2376	CCDS47430.1	6																																																																																			XPO5	-	superfamily_ARM-type_fold	ENSG00000124571		0.398	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO5	HGNC	protein_coding	OTTHUMT00000040657.2		0.00	57	0	T	NM_020750		43501711	-1			no_errors	ENST00000265351	ensembl	human	known	74_37	silent	7.14	26	2	SNP	1.000	C
XPO5	57510	genome.wustl.edu	37	6	43528718	43528718	+	Silent	SNP	T	T	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr6:43528718T>C	ENST00000265351.7	-	10	1248	c.1038A>G	c.(1036-1038)ccA>ccG	p.P346P	XPO5_ENST00000424378.2_5'Flank|RP3-337H4.10_ENST00000607635.1_RNA	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	346					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			CAAAGTTTGATGGTGTTTCTA	0.383																																																	0													138.0	131.0	133.0					6																	43528718		1825	4086	5911	SO:0001819	synonymous_variant	0			AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.1038A>G	6.37:g.43528718T>C			Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Silent	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N	p.P346	ENST00000265351.7	37	c.1038	CCDS47430.1	6																																																																																			XPO5	-	superfamily_ARM-type_fold	ENSG00000124571		0.383	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO5	HGNC	protein_coding	OTTHUMT00000040657.2	-	0.00	138	0	T	NM_020750		43528718	-1	tier1	-	no_errors	ENST00000265351	ensembl	human	known	74_37	silent	34.92	41	22	SNP	0.058	C
ZBTB38	253461	genome.wustl.edu	37	3	141161329	141161329	+	Silent	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr3:141161329C>T	ENST00000514251.1	+	4	378	c.99C>T	c.(97-99)tgC>tgT	p.C33C	ZBTB38_ENST00000321464.5_Silent_p.C34C|ZBTB38_ENST00000441582.2_Silent_p.C33C					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GCATTTTATGCGATGTCACTA	0.428																																																	0													143.0	133.0	136.0					3																	141161329		1874	4127	6001	SO:0001819	synonymous_variant	0			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.99C>T	3.37:g.141161329C>T				Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.C34	ENST00000514251.1	37	c.102	CCDS43157.1	3																																																																																			ZBTB38	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000177311		0.428	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2		0.00	63	0	C			141161329	+1			no_errors	ENST00000321464	ensembl	human	known	74_37	silent	6.78	55	4	SNP	0.999	T
ZCCHC18	644353	genome.wustl.edu	37	X	103359001	103359001	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chrX:103359001C>A	ENST00000537356.3	+	2	1613	c.199C>A	c.(199-201)Caa>Aaa	p.Q67K	SLC25A53_ENST00000357421.4_Intron|ZCCHC18_ENST00000422784.1_Intron			P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	67							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										CTGGCTGATCCAAGTCAATGA	0.493																																																	0													69.0	57.0	61.0					X																	103359001		692	1591	2283	SO:0001583	missense	0			AF086548	CCDS65304.1	Xq22.2	2013-01-31	2009-02-03		ENSG00000166707	ENSG00000166707		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	32459	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7B"""		"""zinc finger, CCHC domain containing 12 pseudogene 1"""				Standard	NM_001143978		Approved	SIZN2, PNMA7B	uc011msh.2	P0CG32	OTTHUMG00000022123	ENST00000537356.3:c.199C>A	X.37:g.103359001C>A	ENSP00000473824:p.Gln67Lys			Missense_Mutation	SNP	superfamily_Znf_CCHC	p.Q67K	ENST00000537356.3	37	c.199		X																																																																																			ZCCHC18	-	NULL	ENSG00000166707		0.493	ZCCHC18-006	PUTATIVE	basic|appris_principal	protein_coding	ZCCHC18	HGNC	protein_coding	OTTHUMT00000471686.1	-	0.00	26	0	C	NM_001143978		103359001	+1	tier1	-	no_errors	ENST00000537356	ensembl	human	putative	74_37	missense	38.10	13	8	SNP	0.999	A
ZEB1	6935	genome.wustl.edu	37	10	31810432	31810432	+	Silent	SNP	T	T	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:31810432T>C	ENST00000320985.10	+	7	2279	c.2169T>C	c.(2167-2169)gcT>gcC	p.A723A	ZEB1_ENST00000560721.2_Silent_p.A703A|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000446923.2_Silent_p.A707A|ZEB1_ENST00000361642.5_Silent_p.A724A|ZEB1_ENST00000542815.3_Silent_p.A656A			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	723					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGTACACAGCTGAGGGTGCAC	0.443																																					Ovarian(40;423 959 14296 36701 49589)												0													89.0	82.0	84.0					10																	31810432		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2169T>C	10.37:g.31810432T>C			B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.A724	ENST00000320985.10	37	c.2172	CCDS7169.1	10																																																																																			ZEB1	-	NULL	ENSG00000148516		0.443	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2	-	0.00	88	0	T	NM_030751		31810432	+1	tier1	-	no_errors	ENST00000361642	ensembl	human	known	74_37	silent	10.42	43	5	SNP	0.155	C
ZCCHC24	219654	genome.wustl.edu	37	10	81154164	81154164	+	Silent	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr10:81154164G>A	ENST00000372336.3	-	3	666	c.480C>T	c.(478-480)taC>taT	p.Y160Y	ZCCHC24_ENST00000372333.3_Missense_Mutation_p.P101S|RP11-342M3.5_ENST00000438554.2_RNA	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	160							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						TTTTGCCCTGGTATGGAGTCA	0.582																																																	0													122.0	101.0	108.0					10																	81154164		2203	4300	6503	SO:0001819	synonymous_variant	0			AK075279	CCDS7359.1	10q22.3	2014-02-20	2008-06-23	2008-06-23	ENSG00000165424	ENSG00000165424		"""Zinc fingers, CCHC domain containing"""	26911	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 8"""		"""chromosome 10 open reading frame 56"""	C10orf56		12477932	Standard	NM_153367		Approved	FLJ90798, Z3CXXC8	uc010qlr.2	Q8N2G6	OTTHUMG00000018561	ENST00000372336.3:c.480C>T	10.37:g.81154164G>A			Q5U5T9|Q8TAG0	Missense_Mutation	SNP	NULL	p.P101S	ENST00000372336.3	37	c.301	CCDS7359.1	10	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143968	0.57044	.	.	ENSG00000165424	ENST00000372333	.	.	.	5.31	4.4	0.53042	.	.	.	.	.	T	0.62405	0.2425	.	.	.	0.28789	N	0.899406	D	0.56521	0.976	P	0.56398	0.797	T	0.62034	-0.6939	7	0.87932	D	0	.	15.3288	0.74190	0.0:0.0:0.8589:0.1411	.	101	Q5W133	.	S	101	.	ENSP00000361408:P101S	P	-	1	0	ZCCHC24	80824170	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	2.466000	0.45084	1.220000	0.43490	0.514000	0.50259	CCA	ZCCHC24	-	NULL	ENSG00000165424		0.582	ZCCHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC24	HGNC	protein_coding	OTTHUMT00000048947.1	-	0.00	59	0	G	NM_153367		81154164	-1	tier1	-	no_errors	ENST00000372333	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	A
ZNFX1	57169	genome.wustl.edu	37	20	47897085	47897086	+	5'Flank	DEL	AT	AT	-			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr20:47897085_47897086delAT	ENST00000396105.1	-	0	0				ZFAS1_ENST00000450535.1_RNA|ZFAS1_ENST00000371743.3_RNA|ZFAS1_ENST00000441722.1_RNA|ZFAS1_ENST00000458653.1_RNA|ZNFX1_ENST00000371752.1_5'Flank|ZFAS1_ENST00000417721.1_RNA|SNORD12C_ENST00000386307.1_RNA|ZFAS1_ENST00000326677.5_RNA|ZFAS1_ENST00000428008.1_RNA|ZNFX1_ENST00000371754.4_5'Flank|SNORD12B_ENST00000410433.1_RNA|SNORD12_ENST00000391002.1_RNA	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1								metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGGAAGTAGAATATATATATAC	0.436																																																	0																																										SO:0001631	upstream_gene_variant	0			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696		20.37:g.47897093_47897094delAT	Exception_encountered		Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	RNA	DEL	-	NULL	ENST00000396105.1	37	NULL	CCDS13417.1	20																																																																																			ZFAS1	-	-	ENSG00000177410		0.436	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAS1	HGNC	protein_coding	OTTHUMT00000079647.2		0.00	46	0	AT	NM_021035		47897086	+1	tier1		no_errors	ENST00000326677	ensembl	human	known	74_37	rna	15.38	44	8	DEL	0.000:0.000	-
ZFHX3	463	genome.wustl.edu	37	16	72831852	72831852	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:72831852G>A	ENST00000268489.5	-	9	5401	c.4729C>T	c.(4729-4731)Ctt>Ttt	p.L1577F	ZFHX3_ENST00000397992.5_Missense_Mutation_p.L663F	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1577					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GATTCTTGAAGGGCTCTCTTT	0.463																																																	0													60.0	60.0	60.0					16																	72831852		2198	4300	6498	SO:0001583	missense	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.4729C>T	16.37:g.72831852G>A	ENSP00000268489:p.Leu1577Phe		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.L1577F	ENST00000268489.5	37	c.4729	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684176	0.47991	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.72615	-0.67;-0.58	5.78	5.78	0.91487	.	0.000000	0.44688	D	0.000431	T	0.78892	0.4355	L	0.55481	1.735	0.80722	D	1	D	0.69078	0.997	D	0.63957	0.92	T	0.78342	-0.2241	10	0.52906	T	0.07	.	13.5635	0.61804	0.0711:0.0:0.9289:0.0	.	1577	Q15911	ZFHX3_HUMAN	F	1577;663	ENSP00000268489:L1577F;ENSP00000438926:L663F	ENSP00000268489:L1577F	L	-	1	0	ZFHX3	71389353	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.777000	0.75028	2.894000	0.99253	0.655000	0.94253	CTT	ZFHX3	-	NULL	ENSG00000140836		0.463	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	-	0.00	95	0	G	NM_006885		72831852	-1	tier1	-	no_errors	ENST00000268489	ensembl	human	known	74_37	missense	36.73	31	18	SNP	1.000	A
ZIC4	84107	genome.wustl.edu	37	3	147123195	147123195	+	5'UTR	SNP	C	C	T			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr3:147123195C>T	ENST00000473123.1	-	0	112				ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000383075.3_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.V22I|ZIC4_ENST00000484399.1_5'Flank|ZIC4_ENST00000525172.2_5'Flank			Q8N9L1	ZIC4_HUMAN	Zic family member 4							nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AAGACGGTGACGGCCGAAGTG	0.537																																																	0													116.0	131.0	126.0					3																	147123195		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000473123.1:c.-51G>A	3.37:g.147123195C>T			A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V22I	ENST00000473123.1	37	c.64	CCDS43160.1	3	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537118	0.27475	.	.	ENSG00000174963	ENST00000425731	T	0.11169	2.8	3.89	-2.09	0.07232	.	.	.	.	.	T	0.07007	0.0178	N	0.22421	0.69	0.09310	N	1	.	.	.	.	.	.	T	0.37126	-0.9719	7	0.52906	T	0.07	.	3.1864	0.06602	0.3244:0.3647:0.0:0.311	.	.	.	.	I	22	ENSP00000397695:V22I	ENSP00000397695:V22I	V	-	1	0	ZIC4	148605885	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.660000	0.01974	-0.436000	0.07254	0.655000	0.94253	GTC	ZIC4	-	NULL	ENSG00000174963		0.537	ZIC4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZIC4	HGNC	protein_coding	OTTHUMT00000355506.1	-	0.00	169	0	C			147123195	-1	tier1	-	no_errors	ENST00000425731	ensembl	human	known	74_37	missense	5.19	128	7	SNP	0.000	T
ZNF462	58499	genome.wustl.edu	37	9	109691399	109691399	+	Missense_Mutation	SNP	A	A	T	rs192125496	byFrequency	TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr9:109691399A>T	ENST00000277225.5	+	3	5495	c.5206A>T	c.(5206-5208)Atc>Ttc	p.I1736F	ZNF462_ENST00000441147.2_Missense_Mutation_p.I581F|ZNF462_ENST00000457913.1_Missense_Mutation_p.I1736F			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1736					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTCCAGGACCATCAGCGACAA	0.582																																																	0													111.0	89.0	96.0					9																	109691399		2203	4300	6503	SO:0001583	missense	0			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5206A>T	9.37:g.109691399A>T	ENSP00000277225:p.Ile1736Phe		Q5T0T4|Q8N408	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I1736F	ENST00000277225.5	37	c.5206	CCDS35096.1	9	.	.	.	.	.	.	.	.	.	.	A	12.03	1.815268	0.32053	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.07327	3.2;3.66;3.8;3.78	6.17	5.05	0.67936	.	0.230578	0.47093	D	0.000254	T	0.02888	0.0086	N	0.08118	0	0.80722	D	1	P;B	0.39717	0.684;0.201	B;B	0.34652	0.187;0.063	T	0.49283	-0.8956	10	0.10111	T	0.7	.	3.5321	0.07781	0.7038:0.0:0.2962:0.0	.	1736;1736	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	F	1736;1736;619;581	ENSP00000277225:I1736F;ENSP00000414570:I1736F;ENSP00000363818:I619F;ENSP00000397306:I581F	ENSP00000277225:I1736F	I	+	1	0	ZNF462	108731220	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.167000	0.50793	2.371000	0.80710	0.533000	0.62120	ATC	ZNF462	-	NULL	ENSG00000148143		0.582	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	HGNC	protein_coding	OTTHUMT00000053532.2	-	0.00	58	0	A	NM_021224		109691399	+1	tier1	-	no_errors	ENST00000457913	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T
ZNF611	81856	genome.wustl.edu	37	19	53219110	53219110	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr19:53219110T>C	ENST00000319783.1	-	5	354	c.38A>G	c.(37-39)aAg>aGg	p.K13R	ZNF611_ENST00000595798.1_5'UTR|ZNF611_ENST00000596702.1_Missense_Mutation_p.K13R|ZNF611_ENST00000453741.2_5'UTR|ZNF611_ENST00000543227.1_Missense_Mutation_p.K13R|ZNF611_ENST00000602162.1_Intron|ZNF611_ENST00000540744.1_Missense_Mutation_p.K13R|ZNF611_ENST00000600943.1_Missense_Mutation_p.K13R	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	13					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GCCTGGCTCCTTTCCTTTCCT	0.423																																																	0													226.0	244.0	238.0					19																	53219110		1511	2707	4218	SO:0001583	missense	0			AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.38A>G	19.37:g.53219110T>C	ENSP00000322427:p.Lys13Arg		B3KRD5|Q69YG9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K13R	ENST00000319783.1	37	c.38	CCDS12855.1	19	.	.	.	.	.	.	.	.	.	.	.	9.570	1.120665	0.20877	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000319783	T;T;T	0.07567	3.18;3.18;3.18	2.05	-4.1	0.03940	.	.	.	.	.	T	0.04318	0.0119	L	0.47716	1.5	0.18873	N	0.999982	P	0.34522	0.455	B	0.25759	0.063	T	0.41034	-0.9531	9	0.15952	T	0.53	.	0.1399	0.00082	0.2541:0.2781:0.1798:0.2881	.	13	Q8N823	ZN611_HUMAN	R	13	ENSP00000437616:K13R;ENSP00000439211:K13R;ENSP00000322427:K13R	ENSP00000322427:K13R	K	-	2	0	ZNF611	57910922	0.000000	0.05858	0.000000	0.03702	0.224000	0.24922	0.009000	0.13219	-1.041000	0.03266	0.248000	0.18094	AAG	ZNF611	-	NULL	ENSG00000213020		0.423	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF611	HGNC	protein_coding	OTTHUMT00000337612.1		0.00	121	0	T	NM_030972		53219110	-1			no_errors	ENST00000319783	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.000	C
ZNF525	170958	genome.wustl.edu	37	19	53887184	53887184	+	IGR	SNP	C	C	A	rs553700589	byFrequency	TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr19:53887184C>A	ENST00000355326.3	+	0	594				ZNF525_ENST00000467003.1_3'UTR|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000474037.1_3'UTR			Q8N782	ZN525_HUMAN	zinc finger protein 525						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)|lung(3)	9						GCCTTTACTTCACATTCTCAC	0.433																																																	0																																										SO:0001628	intergenic_variant	0			AB075859		19q13.42	2013-01-16			ENSG00000203326	ENSG00000203326		"""Zinc fingers, C2H2-type"", ""-"""	29423	protein-coding gene	gene with protein product						11853319	Standard	NR_003699		Approved	KIAA1979	uc010eqn.3	Q8N782	OTTHUMG00000158277		19.37:g.53887184C>A			Q8TF23	RNA	SNP	-	NULL	ENST00000355326.3	37	NULL		19																																																																																			ZNF525	-	-	ENSG00000203326		0.433	ZNF525-201	KNOWN	basic	protein_coding	ZNF525	HGNC	protein_coding		-	0.00	38	0	C	NR_003699		53887184	+1	tier1	-	no_errors	ENST00000601790	ensembl	human	known	74_37	rna	38.46	16	10	SNP	0.000	A
ZNF720	124411	genome.wustl.edu	37	16	31766690	31766690	+	Intron	SNP	G	G	A			TCGA-LN-A8HZ-01A-11D-A36J-09	TCGA-LN-A8HZ-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e77f4886-c395-4825-91fc-934a09f70561	1cb03d3d-a826-4a48-bd82-a13d05c9c705	g.chr16:31766690G>A	ENST00000316491.9	+	4	560				ZNF720_ENST00000399681.3_Missense_Mutation_p.G360R|ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000534369.1_Intron	NM_001130913.1	NP_001124385.1	Q7Z2F6	ZN720_HUMAN	zinc finger protein 720						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						AATTCATACCGGAGAGAAACC	0.363																																																	0																																										SO:0001627	intron_variant	0			AK128671	CCDS45473.1	16p11.2	2013-01-08				ENSG00000197302		"""Zinc fingers, C2H2-type"", ""-"""	26987	protein-coding gene	gene with protein product							Standard	NM_001130913		Approved		uc002ecq.3	Q7Z2F6		ENST00000316491.9:c.361+1469G>A	16.37:g.31766690G>A			Q6ZQX1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G360R	ENST00000316491.9	37	c.1078	CCDS45473.1	16	.	.	.	.	.	.	.	.	.	.	g	15.55	2.866440	0.51588	.	.	ENSG00000197302	ENST00000399681	T	0.01629	4.72	0.965	0.965	0.19661	.	.	.	.	.	T	0.07052	0.0179	.	.	.	0.32721	N	0.510367	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.958	T	0.14448	-1.0472	8	0.72032	D	0.01	.	7.7881	0.29103	0.0:0.0:1.0:0.0	.	360;360	F5GYB6;B7Z5S2	.;.	R	360	ENSP00000440701:G360R	ENSP00000440701:G360R	G	+	1	0	ZNF720	31674191	0.908000	0.30866	0.073000	0.20177	0.045000	0.14185	2.941000	0.49011	0.847000	0.35167	0.561000	0.74099	GGA	ZNF720	-	pfscan_Znf_C2H2	ENSG00000197302		0.363	ZNF720-001	KNOWN	basic|CCDS	protein_coding	ZNF720	HGNC	protein_coding	OTTHUMT00000394883.3	-	0.00	88	0	G	NM_001004300		31766690	+1	tier1	-	no_errors	ENST00000399681	ensembl	human	known	74_37	missense	32.73	37	18	SNP	1.000	A
