#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
ACADSB	36	genome.wustl.edu	37	10	124810675	124810675	+	Silent	SNP	G	G	A	rs145295182		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr10:124810675G>A	ENST00000358776.4	+	9	1115	c.1101G>A	c.(1099-1101)gcG>gcA	p.A367A	ACADSB_ENST00000368869.4_Silent_p.A265A	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	367					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	TAAAAGAAGCGTCAATGGCCA	0.353													a|||	1	0.000199681	0.0008	0.0	5008	,	,		11708	0.0		0.0	False		,,,				2504	0.0																0										1,4405	824.0+/-416.5	0,1,2202	37.0	36.0	37.0		1101	-2.5	0.9	10	dbSNP_134	37	1,8599	817.5+/-406.9	0,1,4299	no	coding-synonymous	ACADSB	NM_001609.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		367/433	124810675	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"""acyl-Coenzyme A dehydrogenase, short/branched chain"""			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.1101G>A	10.37:g.124810675G>A			B4DQ51|Q5SQN6|Q96CX7	Silent	SNP	pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.A367	ENST00000358776.4	37	c.1101	CCDS7634.1	10																																																																																			ACADSB	-	pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C	ENSG00000196177		0.353	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADSB	HGNC	protein_coding	OTTHUMT00000050843.1	-	0.00	56	0	G	NM_001609		124810675	+1	tier1	rs145295182	no_errors	ENST00000358776	ensembl	human	known	74_37	silent	30.77	27	12	SNP	0.501	A
ACHE	43	genome.wustl.edu	37	7	100491648	100491648	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:100491648G>A	ENST00000412389.1	-	1	361	c.206C>T	c.(205-207)gCg>gTg	p.A69V	ACHE_ENST00000411582.1_Missense_Mutation_p.A69V|ACHE_ENST00000419336.2_Missense_Mutation_p.A69V|ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000302913.4_Missense_Mutation_p.A69V|ACHE_ENST00000241069.5_Missense_Mutation_p.A69V|ACHE_ENST00000428317.1_Missense_Mutation_p.A69V			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	69					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	GGGTGGCTCCGCAAAGGGGAT	0.657																																																	0													34.0	37.0	36.0					7																	100491648		2203	4300	6503	SO:0001583	missense	0				CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.206C>T	7.37:g.100491648G>A	ENSP00000394976:p.Ala69Val		A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase	p.A69V	ENST00000412389.1	37	c.206	CCDS5709.1	7	.	.	.	.	.	.	.	.	.	.	g	21.7	4.188347	0.78789	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451;ENST00000441605	T;T;T;T;T;T;T;T;D	0.82081	0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;-1.57	5.02	4.1	0.47936	Carboxylesterase, type B (1);	0.054903	0.64402	D	0.000001	D	0.94656	0.8277	H	0.99746	4.745	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;P;P;P	0.64237	0.923;0.886;0.831;0.837	D	0.96062	0.9039	10	0.87932	D	0	.	13.1458	0.59461	0.0:0.1625:0.8374:0.0	.	69;69;69;69	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	V	69	ENSP00000403474:A69V;ENSP00000241069:A69V;ENSP00000414858:A69V;ENSP00000303211:A69V;ENSP00000394976:A69V;ENSP00000397143:A69V;ENSP00000399725:A69V;ENSP00000404865:A69V;ENSP00000396360:A69V	ENSP00000241069:A69V	A	-	2	0	ACHE	100329584	0.927000	0.31430	0.810000	0.32431	0.823000	0.46562	1.504000	0.35726	1.167000	0.42706	0.556000	0.70494	GCG	ACHE	-	pfam_CarbesteraseB	ENSG00000087085		0.657	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACHE	HGNC	protein_coding	OTTHUMT00000347201.1	-	0.00	89	0	G	NM_015831		100491648	-1	tier1	-	no_errors	ENST00000302913	ensembl	human	known	74_37	missense	44.00	42	33	SNP	0.988	A
ADAM12	8038	genome.wustl.edu	37	10	127734653	127734653	+	Nonsense_Mutation	SNP	C	C	A	rs199768245		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr10:127734653C>A	ENST00000368679.4	-	17	2284	c.1975G>T	c.(1975-1977)Gag>Tag	p.E659*	ADAM12_ENST00000368676.4_Nonsense_Mutation_p.E659*	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	659	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		ATTGCACACTCGTGAACCCCA	0.443																																																	0													125.0	112.0	116.0					10																	127734653		2203	4300	6503	SO:0001587	stop_gained	0			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1975G>T	10.37:g.127734653C>A	ENSP00000357668:p.Glu659*		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Nonsense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,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.E659*	ENST00000368679.4	37	c.1975	CCDS7653.1	10	.	.	.	.	.	.	.	.	.	.	C	38	6.691368	0.97768	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	.	.	.	5.35	3.48	0.39840	.	0.200311	0.41712	D	0.000835	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	9.1801	0.37136	0.0:0.7442:0.0:0.2558	.	.	.	.	X	659	.	ENSP00000357665:E659X	E	-	1	0	ADAM12	127724643	0.981000	0.34729	0.003000	0.11579	0.004000	0.04260	2.584000	0.46102	0.801000	0.34066	0.655000	0.94253	GAG	ADAM12	-	pfscan_EG-like_dom	ENSG00000148848		0.443	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM12	HGNC	protein_coding	OTTHUMT00000050961.1	-	0.00	45	0	C			127734653	-1	tier1	-	no_errors	ENST00000368679	ensembl	human	known	74_37	nonsense	43.64	30	24	SNP	0.186	A
ADORA3	140	genome.wustl.edu	37	1	112043252	112043253	+	Intron	DEL	GA	GA	-			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:112043252_112043253delGA	ENST00000241356.4	-	2	756				ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000486342.1_5'UTR	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor						activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	GCTGGTAAAGGAGAGAGAGAGA	0.455																																																	0																																										SO:0001627	intron_variant	0			BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.351-74TC>-	1.37:g.112043262_112043263delGA			A2A3P4|Q6UWU0|Q9BYZ1	RNA	DEL	-	NULL	ENST00000241356.4	37	NULL	CCDS839.1	1																																																																																			ADORA3	-	-	ENSG00000121933		0.455	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA3	HGNC	protein_coding	OTTHUMT00000033065.1		0.00	21	0	GA	NM_000677, NM_020683		112043253	-1	tier1		no_errors	ENST00000486342	ensembl	human	putative	74_37	rna	40.00	3	2	DEL	0.000:0.000	-
AMY2B	280	genome.wustl.edu	37	1	104116391	104116391	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:104116391C>G	ENST00000361355.4	+	6	1191	c.575C>G	c.(574-576)tCc>tGc	p.S192C	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	192					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TATGTGCGTTCCAAGATTGCC	0.408																																																	0													437.0	421.0	426.0					1																	104116391		2203	4300	6503	SO:0001583	missense	0			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.575C>G	1.37:g.104116391C>G	ENSP00000354610:p.Ser192Cys		B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.S192C	ENST00000361355.4	37	c.575	CCDS782.1	1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608482	0.46527	.	.	ENSG00000240038	ENST00000361355	D	0.98493	-4.96	4.74	4.74	0.60224	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.431503	0.24594	N	0.037186	D	0.98140	0.9386	M	0.78049	2.395	0.36273	D	0.855325	D	0.64830	0.994	P	0.57425	0.82	D	0.99818	1.1045	10	0.87932	D	0	.	12.8445	0.57821	0.1633:0.8367:0.0:0.0	.	192	P19961	AMY2B_HUMAN	C	192	ENSP00000354610:S192C	ENSP00000354610:S192C	S	+	2	0	AMY2B	103917914	0.992000	0.36948	0.460000	0.27093	0.381000	0.30169	3.469000	0.53093	2.204000	0.70986	0.644000	0.83932	TCC	AMY2B	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000240038		0.408	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	HGNC	protein_coding	OTTHUMT00000030318.1	-	0.00	241	0	C	NM_020978		104116391	+1	tier1	-	no_errors	ENST00000361355	ensembl	human	known	74_37	missense	37.23	86	51	SNP	0.936	G
ANK2	287	genome.wustl.edu	37	4	114278181	114278181	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr4:114278181G>T	ENST00000357077.4	+	38	8460	c.8407G>T	c.(8407-8409)Gaa>Taa	p.E2803*	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Nonsense_Mutation_p.E2770*	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2803					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.E2803K(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGATGTTGATGAACAGCCAGT	0.463																																																	1	Substitution - Missense(1)	urinary_tract(1)											87.0	83.0	84.0					4																	114278181		2203	4300	6503	SO:0001587	stop_gained	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8407G>T	4.37:g.114278181G>T	ENSP00000349588:p.Glu2803*		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.E2803*	ENST00000357077.4	37	c.8407	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	48	14.577568	0.99801	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	.	.	.	5.76	4.91	0.64330	.	0.727002	0.12672	N	0.448722	.	.	.	.	.	.	0.22112	N	0.999359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.05	0.25067	0.2401:0.0:0.7599:0.0	.	.	.	.	X	2803;2770	.	.	E	+	1	0	ANK2	114497630	0.608000	0.26966	0.022000	0.16811	0.079000	0.17450	1.834000	0.39171	1.402000	0.46780	0.655000	0.94253	GAA	ANK2	-	NULL	ENSG00000145362		0.463	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2		0.00	28	0	G	NM_001148		114278181	+1			no_errors	ENST00000357077	ensembl	human	known	74_37	nonsense	7.14	25	2	SNP	0.004	T
ANKRD50	57182	genome.wustl.edu	37	4	125592765	125592765	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr4:125592765C>T	ENST00000504087.1	-	4	2704	c.1667G>A	c.(1666-1668)gGc>gAc	p.G556D	ANKRD50_ENST00000515641.1_Missense_Mutation_p.G377D	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	556										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ATCAAGACTGCCACTATATGC	0.413																																																	0													115.0	108.0	110.0					4																	125592765		2203	4300	6503	SO:0001583	missense	0			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1667G>A	4.37:g.125592765C>T	ENSP00000425658:p.Gly556Asp		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.G556D	ENST00000504087.1	37	c.1667	CCDS34060.1	4	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835828	0.71373	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.72394	-0.57;-0.65	4.98	4.98	0.66077	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.82834	0.5123	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84384	0.0551	10	0.72032	D	0.01	.	18.4479	0.90691	0.0:1.0:0.0:0.0	.	556	Q9ULJ7	ANR50_HUMAN	D	556;377	ENSP00000425658:G556D;ENSP00000425355:G377D	ENSP00000425658:G556D	G	-	2	0	ANKRD50	125812215	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.164000	0.77533	2.590000	0.87494	0.555000	0.69702	GGC	ANKRD50	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000151458		0.413	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD50	HGNC	protein_coding	OTTHUMT00000364775.1	-	0.00	55	0	C	NM_020337		125592765	-1	tier1	-	no_errors	ENST00000504087	ensembl	human	known	74_37	missense	42.42	19	14	SNP	1.000	T
APC	324	genome.wustl.edu	37	5	112175951	112175952	+	Frame_Shift_Ins	INS	-	-	A	rs587783031		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr5:112175951_112175952insA	ENST00000457016.1	+	16	5040_5041	c.4660_4661insA	c.(4660-4662)gaafs	p.E1554fs	APC_ENST00000257430.4_Frame_Shift_Ins_p.E1554fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Frame_Shift_Ins_p.E1554fs			P25054	APC_HUMAN	adenomatous polyposis coli	1554	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.T1556fs*3(42)|p.E1554fs*5(2)|p.E1554fs*3(1)|p.?(1)|p.T1556fs*9(1)|p.?fs(1)|p.K1192fs*3(1)|p.E1554*(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAAAGAGGCAGAAAAAACTATT	0.342		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	50	Insertion - Frameshift(45)|Deletion - Frameshift(3)|Substitution - Nonsense(1)|Unknown(1)	large_intestine(45)|stomach(3)|soft_tissue(1)|skin(1)																																								SO:0001589	frameshift_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4666dupA	5.37:g.112175957_112175957dupA	ENSP00000413133:p.Glu1554fs		D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Ins	INS	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.T1556fs	ENST00000457016.1	37	c.4660_4661	CCDS4107.1	5																																																																																			APC	-	NULL	ENSG00000134982		0.342	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2		0.00	55	0	-	NM_000038		112175952	+1	tier1		no_errors	ENST00000257430	ensembl	human	known	74_37	frame_shift_ins	69.57	7	16	INS	0.925:0.945	A
ARHGEF15	22899	genome.wustl.edu	37	17	8215725	8215725	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr17:8215725C>T	ENST00000361926.3	+	2	478	c.368C>T	c.(367-369)cCg>cTg	p.P123L	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P123L	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	123	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCACCCAAGCCGTCTGGGTCA	0.682																																																	0													69.0	73.0	72.0					17																	8215725		2203	4300	6503	SO:0001583	missense	0			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.368C>T	17.37:g.8215725C>T	ENSP00000355026:p.Pro123Leu		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.P123L	ENST00000361926.3	37	c.368	CCDS11139.1	17	.	.	.	.	.	.	.	.	.	.	C	9.599	1.128201	0.21041	.	.	ENSG00000198844	ENST00000361926;ENST00000421050	T;T	0.81330	-1.48;-1.48	5.02	4.03	0.46877	.	2.150550	0.04091	U	0.311351	T	0.69513	0.3119	L	0.27053	0.805	0.35060	D	0.76148	P;P	0.49635	0.926;0.926	B;B	0.35114	0.122;0.196	T	0.70063	-0.4975	10	0.62326	D	0.03	-25.6469	9.6417	0.39844	0.0:0.9022:0.0:0.0978	.	123;123	D3DTR7;O94989	.;ARHGF_HUMAN	L	123	ENSP00000355026:P123L;ENSP00000412505:P123L	ENSP00000355026:P123L	P	+	2	0	ARHGEF15	8156450	0.976000	0.34144	1.000000	0.80357	0.448000	0.32197	2.185000	0.42584	2.631000	0.89168	0.555000	0.69702	CCG	ARHGEF15	-	NULL	ENSG00000198844		0.682	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2	-	0.00	104	0	C	NM_173728		8215725	+1	tier1	-	no_errors	ENST00000361926	ensembl	human	known	74_37	missense	87.10	8	54	SNP	0.996	T
ARID4B	51742	genome.wustl.edu	37	1	235409746	235409748	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:235409746_235409748delTCT	ENST00000264183.3	-	7	930_932	c.433_435delAGA	c.(433-435)agadel	p.R145del	ARID4B_ENST00000349213.3_In_Frame_Del_p.R145del|ARID4B_ENST00000366603.2_In_Frame_Del_p.R145del	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	145					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TATGATTAGATCTTCTTCCTCTA	0.355																																																	0																																										SO:0001651	inframe_deletion	0			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.433_435delAGA	1.37:g.235409749_235409751delTCT	ENSP00000264183:p.Arg145del		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	In_Frame_Del	DEL	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.R145in_frame_del	ENST00000264183.3	37	c.435_433	CCDS31061.1	1																																																																																			ARID4B	-	NULL	ENSG00000054267		0.355	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3		0.00	106	0	TCT	NM_016374		235409748	-1	tier1		no_errors	ENST00000264183	ensembl	human	known	74_37	in_frame_del	27.27	72	27	DEL	1.000:1.000:1.000	-
ARL5C	390790	genome.wustl.edu	37	17	37316924	37316924	+	Silent	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr17:37316924C>T	ENST00000269586.7	-	5	410	c.411G>A	c.(409-411)gaG>gaA	p.E137E	ARL5C_ENST00000444555.1_Silent_p.E137E	NM_001143968.1	NP_001137440.1	A6NH57	ARL5C_HUMAN	ADP-ribosylation factor-like 5C	137					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)										AATGGGAGATCTCCACCATCC	0.542																																																	0													111.0	96.0	101.0					17																	37316924		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS45664.1	17q12	2014-05-09	2005-11-08	2005-11-08	ENSG00000141748	ENSG00000141748		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	31111	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 12"""	ARL12			Standard	NM_001143968		Approved		uc010wea.2	A6NH57		ENST00000269586.7:c.411G>A	17.37:g.37316924C>T				Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E137	ENST00000269586.7	37	c.411	CCDS45664.1	17																																																																																			ARL5C	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	ENSG00000141748		0.542	ARL5C-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ARL5C	HGNC	protein_coding	OTTHUMT00000444566.1	-	0.00	72	0	C	NM_001143968		37316924	-1	tier1	-	no_errors	ENST00000269586	ensembl	human	known	74_37	silent	85.01	142	805	SNP	0.983	T
AXL	558	genome.wustl.edu	37	19	41754709	41754709	+	Silent	SNP	T	T	C			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:41754709T>C	ENST00000301178.4	+	14	1885	c.1695T>C	c.(1693-1695)gcT>gcC	p.A565A	AXL_ENST00000593513.1_Silent_p.A297A|AXL_ENST00000359092.3_Silent_p.A556A	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	565	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TCAAGGTGGCTGTGAAGACGA	0.567																																																	0													106.0	95.0	99.0					19																	41754709		2203	4300	6503	SO:0001819	synonymous_variant	0			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1695T>C	19.37:g.41754709T>C			Q8N5L2|Q9UD27	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A565	ENST00000301178.4	37	c.1695	CCDS12575.1	19																																																																																			AXL	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000167601		0.567	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXL	HGNC	protein_coding	OTTHUMT00000463323.2	-	0.00	56	0	T			41754709	+1	tier1	-	no_errors	ENST00000301178	ensembl	human	known	74_37	silent	27.78	26	10	SNP	0.987	C
CMC1	152100	genome.wustl.edu	37	3	28364075	28364075	+	3'UTR	SNP	C	C	G			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr3:28364075C>G	ENST00000466830.1	+	0	3475				AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000479665.1_3'UTR	NM_182523.1	NP_872329.1	Q7Z7K0	COXM1_HUMAN	C-x(9)-C motif containing 1							mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)	5						CAGGTAGTTGCTTCCTTCAGC	0.393																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC052644	CCDS33722.1	3p24.1	2013-10-18	2013-10-18	2008-06-20	ENSG00000187118	ENSG00000187118			28783	protein-coding gene	gene with protein product		615166	"""chromosome 3 open reading frame 68"", ""COX assembly mitochondrial protein 1 homolog (S. cerevisiae)"""	C3orf68		18443040	Standard	NM_182523		Approved	MGC61571	uc003cea.3	Q7Z7K0	OTTHUMG00000155660	ENST00000466830.1:c.*2955C>G	3.37:g.28364075C>G			Q68DJ7	RNA	SNP	-	NULL	ENST00000466830.1	37	NULL	CCDS33722.1	3																																																																																			AZI2	-	-	ENSG00000163512		0.393	CMC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AZI2	HGNC	protein_coding	OTTHUMT00000341087.1	-	0.00	113	0	C	NM_182523		28364075	-1	tier1	-	no_errors	ENST00000295748	ensembl	human	known	74_37	rna	73.61	19	53	SNP	1.000	G
BAI3	577	genome.wustl.edu	37	6	70034887	70034887	+	Silent	SNP	A	A	C			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:70034887A>C	ENST00000370598.1	+	21	3759	c.2938A>C	c.(2938-2940)Aga>Cga	p.R980R	BAI3_ENST00000238918.8_Silent_p.R186R	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	980					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACGGCTTATAAGAAAACGCTT	0.398																																																	0													194.0	186.0	189.0					6																	70034887		2203	4300	6503	SO:0001819	synonymous_variant	0			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2938A>C	6.37:g.70034887A>C			B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.R980	ENST00000370598.1	37	c.2938	CCDS4968.1	6																																																																																			BAI3	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	ENSG00000135298		0.398	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	-	0.00	91	0	A			70034887	+1	tier1	-	no_errors	ENST00000370598	ensembl	human	known	74_37	silent	23.53	39	12	SNP	1.000	C
BICC1	80114	genome.wustl.edu	37	10	60577321	60577321	+	Splice_Site	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr10:60577321G>A	ENST00000373886.3	+	19	2537		c.e19-1			NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1						multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TTGCCTTTCAGCGGAACACTA	0.398																																																	0													117.0	112.0	113.0					10																	60577321		2203	4300	6503	SO:0001630	splice_region_variant	0			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2534-1G>A	10.37:g.60577321G>A				Splice_Site	SNP	-	e19-1	ENST00000373886.3	37	c.2534-1	CCDS31206.1	10	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844315	0.71488	.	.	ENSG00000122870	ENST00000373886	.	.	.	5.93	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6328	0.62204	0.0717:0.0:0.9283:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BICC1	60247327	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.282000	0.72639	1.507000	0.48752	0.563000	0.77884	.	BICC1	-	-	ENSG00000122870		0.398	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICC1	HGNC	protein_coding	OTTHUMT00000048150.2	-	0.00	73	0	G	NM_025044	Intron	60577321	+1	tier1	-	no_errors	ENST00000373886	ensembl	human	known	74_37	splice_site	29.79	33	14	SNP	1.000	A
BZRAP1	9256	genome.wustl.edu	37	17	56397906	56397906	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr17:56397906C>T	ENST00000343736.4	-	11	1622	c.1459G>A	c.(1459-1461)Gtg>Atg	p.V487M	BZRAP1_ENST00000355701.3_Missense_Mutation_p.V487M|BZRAP1_ENST00000268893.6_Missense_Mutation_p.V427M			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	487						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCAGCTGCACGGCTCCTTCA	0.607																																																	0													21.0	18.0	19.0					17																	56397906		2202	4299	6501	SO:0001583	missense	0			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.1459G>A	17.37:g.56397906C>T	ENSP00000345824:p.Val487Met		O75111|Q8N5W3	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.V487M	ENST00000343736.4	37	c.1459	CCDS11605.1	17	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243929	0.79912	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.03920	3.76;3.76;3.76	4.99	4.99	0.66335	.	0.000000	0.64402	D	0.000001	T	0.14787	0.0357	L	0.52573	1.65	0.34166	D	0.669206	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.974;0.998;0.998	T	0.02625	-1.1132	10	0.72032	D	0.01	.	10.5744	0.45219	0.0:0.9119:0.0:0.0881	.	487;427;487	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	M	487;487;427	ENSP00000347929:V487M;ENSP00000345824:V487M;ENSP00000268893:V427M	ENSP00000268893:V427M	V	-	1	0	BZRAP1	53752905	0.996000	0.38824	0.974000	0.42286	0.953000	0.61014	3.487000	0.53222	2.586000	0.87340	0.561000	0.74099	GTG	BZRAP1	-	NULL	ENSG00000005379		0.607	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	HGNC	protein_coding	OTTHUMT00000443980.1	-	0.00	120	0	C	NM_004758		56397906	-1	tier1	-	no_errors	ENST00000355701	ensembl	human	known	74_37	missense	60.19	41	62	SNP	0.997	T
C2CD3	26005	genome.wustl.edu	37	11	73789404	73789404	+	Silent	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:73789404C>T	ENST00000334126.7	-	23	4585	c.4359G>A	c.(4357-4359)aaG>aaA	p.K1453K	C2CD3_ENST00000313663.7_Silent_p.K1453K			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1453					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATTCCTTAGGCTTCTTGAGAG	0.453																																																	0													90.0	85.0	86.0					11																	73789404		2200	4293	6493	SO:0001819	synonymous_variant	0			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4359G>A	11.37:g.73789404C>T			C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	p.K1453	ENST00000334126.7	37	c.4359		11																																																																																			C2CD3	-	NULL	ENSG00000168014		0.453	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		-	0.00	110	0	C	NM_015531		73789404	-1	tier1	-	no_errors	ENST00000334126	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.948	T
C3orf79	152118	genome.wustl.edu	37	3	153203846	153203846	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr3:153203846C>A	ENST00000446603.2	+	2	237	c.175C>A	c.(175-177)Cct>Act	p.P59T	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	59										endometrium(1)|large_intestine(3)	4						atatgggcaccctgccactct	0.368																																																	0													48.0	45.0	46.0					3																	153203846		1812	4074	5886	SO:0001583	missense	0			AF086445	CCDS46937.1	3q25.2	2009-09-30			ENSG00000237787	ENSG00000237787			37259	protein-coding gene	gene with protein product							Standard	NM_001101337		Approved		uc003ezt.3	P0CE67	OTTHUMG00000159629	ENST00000446603.2:c.175C>A	3.37:g.153203846C>A	ENSP00000389475:p.Pro59Thr			Missense_Mutation	SNP	NULL	p.P59T	ENST00000446603.2	37	c.175	CCDS46937.1	3	.	.	.	.	.	.	.	.	.	.	C	7.879	0.729890	0.15507	.	.	ENSG00000237787	ENST00000446603	.	.	.	2.38	-1.43	0.08884	.	.	.	.	.	T	0.21550	0.0519	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.23190	-1.0195	8	0.87932	D	0	.	7.9249	0.29867	0.3487:0.6513:0.0:0.0	.	59	P0CE67	CC079_HUMAN	T	59	.	ENSP00000389475:P59T	P	+	1	0	C3orf79	154686536	0.000000	0.05858	0.001000	0.08648	0.082000	0.17680	0.455000	0.21843	-0.288000	0.09051	-0.516000	0.04426	CCT	C3orf79	-	NULL	ENSG00000237787		0.368	C3orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf79	HGNC	protein_coding	OTTHUMT00000356570.1	-	0.00	68	0	C	NM_001101337		153203846	+1	tier1	-	no_errors	ENST00000446603	ensembl	human	known	74_37	missense	29.82	40	17	SNP	0.001	A
C6	729	genome.wustl.edu	37	5	41155094	41155094	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr5:41155094T>A	ENST00000263413.3	-	14	2345	c.2081A>T	c.(2080-2082)cAa>cTa	p.Q694L	C6_ENST00000337836.5_Missense_Mutation_p.Q694L	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	694	C5b-binding domain.|CCP 2.|Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|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)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CACATCCCCTTGTCTCCAGGT	0.413																																																	0													144.0	135.0	138.0					5																	41155094		2203	4300	6503	SO:0001583	missense	0			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2081A>T	5.37:g.41155094T>A	ENSP00000263413:p.Gln694Leu			Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,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,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt	p.Q694L	ENST00000263413.3	37	c.2081	CCDS3936.1	5	.	.	.	.	.	.	.	.	.	.	T	23.2	4.388415	0.82902	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.64991	-0.13;-0.13	5.82	-4.15	0.03881	Complement control module (2);Sushi/SCR/CCP (3);	0.354318	0.33217	N	0.005155	T	0.65333	0.2681	M	0.72479	2.2	0.37500	D	0.916743	D	0.53745	0.962	P	0.57846	0.828	T	0.65664	-0.6113	10	0.48119	T	0.1	0.0031	6.9688	0.24637	0.104:0.3548:0.0:0.5412	.	694	P13671	CO6_HUMAN	L	694	ENSP00000338861:Q694L;ENSP00000263413:Q694L	ENSP00000263413:Q694L	Q	-	2	0	C6	41190851	0.953000	0.32496	0.452000	0.26994	0.965000	0.64279	-0.038000	0.12144	-1.017000	0.03367	-0.417000	0.06048	CAA	C6	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000039537		0.413	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	HGNC	protein_coding	OTTHUMT00000211592.1	-	0.00	55	0	T			41155094	-1	tier1	-	no_errors	ENST00000263413	ensembl	human	known	74_37	missense	51.85	26	28	SNP	0.729	A
C8orf74	203076	genome.wustl.edu	37	8	10532174	10532174	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr8:10532174C>T	ENST00000304519.5	+	2	96	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	C8orf74_ENST00000524025.1_3'UTR|RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	23										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		AGGTCGGGAGCGCCTGCGGAG	0.572																																																	0													33.0	36.0	35.0					8																	10532174		1903	4116	6019	SO:0001583	missense	0			BC038534	CCDS47800.1	8p23.1	2012-04-17			ENSG00000171060	ENSG00000171060			32296	protein-coding gene	gene with protein product							Standard	NM_001040032		Approved		uc003wtd.1	Q6P047	OTTHUMG00000163807	ENST00000304519.5:c.67C>T	8.37:g.10532174C>T	ENSP00000307129:p.Arg23Cys		A2RUD6	Missense_Mutation	SNP	NULL	p.R23C	ENST00000304519.5	37	c.67	CCDS47800.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.87|10.87	1.472386|1.472386	0.26423|0.26423	.|.	.|.	ENSG00000171060|ENSG00000171060	ENST00000521818|ENST00000304519	.|T	.|0.33216	.|1.42	5.06|5.06	3.24|3.24	0.37175|0.37175	.|.	.|0.775970	.|0.11967	.|N	.|0.512147	T|T	0.17408|0.17408	0.0418|0.0418	N|N	0.14661|0.14661	0.345|0.345	0.19775|0.19775	N|N	0.999954|0.999954	.|B	.|0.06786	.|0.001	.|B	.|0.06405	.|0.002	T|T	0.15578|0.15578	-1.0432|-1.0432	5|10	.|0.41790	.|T	.|0.15	.|.	6.8402|6.8402	0.23959|0.23959	0.0:0.7905:0.0:0.2095|0.0:0.7905:0.0:0.2095	.|.	.|23	.|Q6P047	.|CH074_HUMAN	V|C	21|23	.|ENSP00000307129:R23C	.|ENSP00000307129:R23C	A|R	+|+	2|1	0|0	C8orf74|C8orf74	10569584|10569584	0.098000|0.098000	0.21812|0.21812	0.702000|0.702000	0.30337|0.30337	0.110000|0.110000	0.19582|0.19582	0.481000|0.481000	0.22260|0.22260	1.113000|1.113000	0.41760|0.41760	0.430000|0.430000	0.28490|0.28490	GCG|CGC	C8orf74	-	NULL	ENSG00000171060		0.572	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf74	HGNC	protein_coding	OTTHUMT00000375675.1	-	0.00	37	0	C	NM_001040032		10532174	+1	tier1	-	no_errors	ENST00000304519	ensembl	human	known	74_37	missense	75.00	4	12	SNP	0.223	T
C9	735	genome.wustl.edu	37	5	39289010	39289010	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr5:39289010G>A	ENST00000263408.4	-	10	1555	c.1460C>T	c.(1459-1461)gCa>gTa	p.A487V		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	487	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CTTTAGGTGTGCATTTTTCAT	0.338																																																	0													97.0	95.0	96.0					5																	39289010		2203	4298	6501	SO:0001583	missense	0				CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1460C>T	5.37:g.39289010G>A	ENSP00000263408:p.Ala487Val			Missense_Mutation	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt	p.A487V	ENST00000263408.4	37	c.1460	CCDS3929.1	5	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803280	0.90623	.	.	ENSG00000113600	ENST00000263408	T	0.35048	1.33	5.57	5.57	0.84162	Membrane attack complex component/perforin (MACPF) domain (3);	0.967826	0.08577	N	0.925102	T	0.58192	0.2105	L	0.43152	1.355	0.53005	D	0.999966	D	0.89917	1.0	D	0.78314	0.991	T	0.49744	-0.8907	10	0.51188	T	0.08	-33.0048	19.1688	0.93569	0.0:0.0:1.0:0.0	.	487	P02748	CO9_HUMAN	V	487	ENSP00000263408:A487V	ENSP00000263408:A487V	A	-	2	0	C9	39324767	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	8.002000	0.88514	2.626000	0.88956	0.655000	0.94253	GCA	C9	-	pfam_MACPF,smart_MACPF,prints_MAC_perforin	ENSG00000113600		0.338	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9	HGNC	protein_coding	OTTHUMT00000211576.3	-	0.00	76	0	G			39289010	-1	tier1	-	no_errors	ENST00000263408	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.998	A
CA10	56934	genome.wustl.edu	37	17	49731019	49731019	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr17:49731019C>T	ENST00000285273.4	-	6	1655	c.544G>A	c.(544-546)Gtt>Att	p.V182I	CA10_ENST00000570565.1_Missense_Mutation_p.V107I|CA10_ENST00000442502.2_Missense_Mutation_p.V182I|CA10_ENST00000340813.6_Missense_Mutation_p.V188I|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000451037.2_Missense_Mutation_p.V182I	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	182					brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	AATATAGAAACTACCACCAAT	0.408																																																	0													95.0	91.0	93.0					17																	49731019		2203	4300	6503	SO:0001583	missense	0			AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.544G>A	17.37:g.49731019C>T	ENSP00000285273:p.Val182Ile		B2R7J0|B4DGL6	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.V188I	ENST00000285273.4	37	c.562	CCDS32684.1	17	.	.	.	.	.	.	.	.	.	.	C	12.12	1.844002	0.32606	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69	5.55	5.55	0.83447	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.120653	0.56097	D	0.000036	T	0.50548	0.1622	N	0.16833	0.445	0.50467	D	0.999876	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.002;0.002;0.003	T	0.46048	-0.9219	10	0.07644	T	0.81	.	12.2177	0.54416	0.0:0.9224:0.0:0.0776	.	182;188;107	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	I	182;182;182;188	ENSP00000390666:V182I;ENSP00000285273:V182I;ENSP00000405388:V182I;ENSP00000340363:V188I	ENSP00000285273:V182I	V	-	1	0	CA10	47086018	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.573000	0.60893	2.753000	0.94483	0.655000	0.94253	GTT	CA10	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000154975		0.408	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CA10	HGNC	protein_coding	OTTHUMT00000437480.1	-	0.00	86	0	C	NM_020178		49731019	-1	tier1	-	no_errors	ENST00000340813	ensembl	human	known	74_37	missense	54.67	34	41	SNP	1.000	T
CACNA1E	777	genome.wustl.edu	37	1	181732596	181732596	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:181732596C>T	ENST00000367573.2	+	34	4744	c.4744C>T	c.(4744-4746)Cgc>Tgc	p.R1582C	CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1514C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1189C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1533C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1563C|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1563C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1582C	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1582					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						CCGAGCTGCCCGCCTCATAAA	0.468																																																	0													84.0	82.0	83.0					1																	181732596		1862	4100	5962	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.4744C>T	1.37:g.181732596C>T	ENSP00000356545:p.Arg1582Cys		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.R1582C	ENST00000367573.2	37	c.4744	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017347	0.93404	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.99652	-6.3;-6.3;-6.3;-6.3;-6.3;-6.3;-6.3	5.28	5.28	0.74379	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	H	0.99820	4.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.911	D	0.96118	0.9082	10	0.87932	D	0	.	18.5083	0.90905	0.0:1.0:0.0:0.0	.	1563;1582;1582	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	C	1582;1563;1533;1514;1189;1563;1582	ENSP00000356542:R1582C;ENSP00000434814:R1563C;ENSP00000350183:R1533C;ENSP00000351101:R1514C;ENSP00000356539:R1189C;ENSP00000353222:R1563C;ENSP00000356545:R1582C	ENSP00000350183:R1533C	R	+	1	0	CACNA1E	179999219	0.996000	0.38824	1.000000	0.80357	0.921000	0.55340	3.423000	0.52756	2.471000	0.83476	0.467000	0.42956	CGC	CACNA1E	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000198216		0.468	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0.00	66	0	C	NM_000721		181732596	+1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	missense	37.68	42	26	SNP	1.000	T
CACNA1E	777	genome.wustl.edu	37	1	181732614	181732614	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:181732614C>T	ENST00000367573.2	+	34	4762	c.4762C>T	c.(4762-4764)Cgt>Tgt	p.R1588C	CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1520C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1195C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1539C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1569C|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1569C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1588C	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1588					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						AAAGCTCCTGCGTCAGGGCTA	0.478																																																	0													78.0	75.0	76.0					1																	181732614		1870	4104	5974	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.4762C>T	1.37:g.181732614C>T	ENSP00000356545:p.Arg1588Cys		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.R1588C	ENST00000367573.2	37	c.4762	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992260	0.74703	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98792	-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14	5.28	3.31	0.37934	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99468	0.9811	H	0.98507	4.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.993;0.998;0.996	D	0.98158	1.0445	10	0.87932	D	0	.	14.205	0.65728	0.2702:0.7298:0.0:0.0	.	1569;1588;1588	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	C	1588;1569;1539;1520;1195;1569;1588	ENSP00000356542:R1588C;ENSP00000434814:R1569C;ENSP00000350183:R1539C;ENSP00000351101:R1520C;ENSP00000356539:R1195C;ENSP00000353222:R1569C;ENSP00000356545:R1588C	ENSP00000350183:R1539C	R	+	1	0	CACNA1E	179999237	0.999000	0.42202	0.955000	0.39395	0.930000	0.56654	3.611000	0.54132	1.200000	0.43188	0.467000	0.42956	CGT	CACNA1E	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000198216		0.478	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0.00	71	0	C	NM_000721		181732614	+1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	missense	25.86	43	15	SNP	0.999	T
CAMK1D	57118	genome.wustl.edu	37	10	12802957	12802957	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr10:12802957G>A	ENST00000378847.3	+	4	647	c.310G>A	c.(310-312)Gga>Aga	p.G104R	CAMK1D_ENST00000378845.1_Missense_Mutation_p.G104R	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	104	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GGTGTCCGGTGGAGAGCTGTT	0.443																																																	0													108.0	105.0	106.0					10																	12802957		2203	4300	6503	SO:0001583	missense	0			AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.310G>A	10.37:g.12802957G>A	ENSP00000368124:p.Gly104Arg		B0YIY0|Q9HD31	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.G104R	ENST00000378847.3	37	c.310	CCDS7091.1	10	.	.	.	.	.	.	.	.	.	.	G	19.77	3.890024	0.72524	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.57273	0.41;0.41	5.71	5.71	0.89125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.103766	0.64402	D	0.000003	T	0.76601	0.4010	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.77389	-0.2606	10	0.46703	T	0.11	-19.2442	18.8366	0.92165	0.0:0.0:1.0:0.0	.	104;104	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	R	104	ENSP00000368124:G104R;ENSP00000368122:G104R	ENSP00000368122:G104R	G	+	1	0	CAMK1D	12842963	1.000000	0.71417	1.000000	0.80357	0.250000	0.25880	9.869000	0.99810	2.684000	0.91462	0.655000	0.94253	GGA	CAMK1D	-	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	ENSG00000183049		0.443	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK1D	HGNC	protein_coding	OTTHUMT00000046820.1	-	0.00	67	0	G	NM_020397		12802957	+1	tier1	-	no_errors	ENST00000378847	ensembl	human	known	74_37	missense	21.31	48	13	SNP	1.000	A
CAPZA1	829	genome.wustl.edu	37	1	113212706	113212706	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:113212706G>A	ENST00000263168.3	+	10	1485	c.813G>A	c.(811-813)tgG>tgA	p.W271*	CAPZA1_ENST00000476936.1_3'UTR	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	271					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|WASH complex (GO:0071203)	actin binding (GO:0003779)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAATCGACTGGAACAAGATAC	0.428																																																	0													70.0	66.0	67.0					1																	113212706		2202	4300	6502	SO:0001587	stop_gained	0			U56637	CCDS30805.1	1p13.2	2014-05-09			ENSG00000116489	ENSG00000116489			1488	protein-coding gene	gene with protein product		601580				7665558, 9119363	Standard	NM_006135		Approved		uc001ecj.1	P52907	OTTHUMG00000011769	ENST00000263168.3:c.813G>A	1.37:g.113212706G>A	ENSP00000263168:p.Trp271*		Q53FQ6|Q6FHD5	Nonsense_Mutation	SNP	pfam_CapZ_alpha,prints_CapZ_alpha	p.W271*	ENST00000263168.3	37	c.813	CCDS30805.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.335271	0.99140	.	.	ENSG00000116489	ENST00000263168	.	.	.	5.63	5.63	0.86233	.	0.117654	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7702	19.7026	0.96062	0.0:0.0:1.0:0.0	.	.	.	.	X	271	.	ENSP00000263168:W271X	W	+	3	0	CAPZA1	113014229	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.788000	0.99064	2.829000	0.97493	0.644000	0.83932	TGG	CAPZA1	-	pfam_CapZ_alpha,prints_CapZ_alpha	ENSG00000116489		0.428	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPZA1	HGNC	protein_coding	OTTHUMT00000032567.2	-	0.00	51	0	G	NM_006135		113212706	+1	tier1	-	no_errors	ENST00000263168	ensembl	human	known	74_37	nonsense	50.00	13	13	SNP	1.000	A
CCDC73	493860	genome.wustl.edu	37	11	32675584	32675584	+	Splice_Site	SNP	C	C	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:32675584C>A	ENST00000335185.5	-	11	818		c.e11-1		CCDC73_ENST00000534415.1_Splice_Site	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ATTCCAATTCCTTTAAAATTT	0.269																																																	0													43.0	42.0	42.0					11																	32675584		1770	4034	5804	SO:0001630	splice_region_variant	0			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.775-1G>T	11.37:g.32675584C>A			Q6P5Q7|Q6ZMW0|Q86WE7	Splice_Site	SNP	-	e10-1	ENST00000335185.5	37	c.775-1	CCDS41630.1	11	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730196	0.69074	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9307	0.88996	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC73	32632160	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	4.434000	0.59935	2.773000	0.95371	0.650000	0.86243	.	CCDC73	-	-	ENSG00000186714		0.269	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC73	HGNC	protein_coding	OTTHUMT00000388874.2		0.00	45	0	C	NM_001008391	Intron	32675584	-1			no_errors	ENST00000335185	ensembl	human	known	74_37	splice_site	10.53	17	2	SNP	1.000	A
CCNB2	9133	genome.wustl.edu	37	15	59408989	59408989	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr15:59408989T>C	ENST00000288207.2	+	6	889	c.698T>C	c.(697-699)tTt>tCt	p.F233S	CCNB2_ENST00000559622.1_Missense_Mutation_p.F152S	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	233					G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						ATTGAAGACTTTGTTTACATC	0.403																																																	0													119.0	115.0	116.0					15																	59408989		2191	4291	6482	SO:0001583	missense	0			AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.698T>C	15.37:g.59408989T>C	ENSP00000288207:p.Phe233Ser		B3KM93|Q6FI99	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.F233S	ENST00000288207.2	37	c.698	CCDS10170.1	15	.	.	.	.	.	.	.	.	.	.	T	24.9	4.581156	0.86748	.	.	ENSG00000157456	ENST00000288207	T	0.13538	2.58	5.28	5.28	0.74379	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.59280	0.2182	H	0.99697	4.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78991	-0.1985	10	0.87932	D	0	.	14.6947	0.69113	0.0:0.0:0.0:1.0	.	233;233	Q53HG9;O95067	.;CCNB2_HUMAN	S	233	ENSP00000288207:F233S	ENSP00000288207:F233S	F	+	2	0	CCNB2	57196281	1.000000	0.71417	0.946000	0.38457	0.988000	0.76386	7.960000	0.87893	2.125000	0.65367	0.528000	0.53228	TTT	CCNB2	-	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000157456		0.403	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB2	HGNC	protein_coding	OTTHUMT00000256016.1	-	0.00	62	0	T	NM_004701		59408989	+1	tier1	-	no_errors	ENST00000288207	ensembl	human	known	74_37	missense	32.94	57	28	SNP	0.998	C
CCNJL	79616	genome.wustl.edu	37	5	159680513	159680513	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr5:159680513G>A	ENST00000393977.3	-	7	1465	c.1180C>T	c.(1180-1182)Ccc>Tcc	p.P394S	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Missense_Mutation_p.P346S	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	394						nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCAGGGACGGGCACGGGACAC	0.617																																																	0													80.0	89.0	86.0					5																	159680513		2151	4259	6410	SO:0001583	missense	0			BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.1180C>T	5.37:g.159680513G>A	ENSP00000377547:p.Pro394Ser		Q6ZN43|Q9H7W8	Missense_Mutation	SNP	pfam_Cyclin_C-dom,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.P394S	ENST00000393977.3	37	c.1180	CCDS4350.2	5	.	.	.	.	.	.	.	.	.	.	G	0.673	-0.801325	0.02841	.	.	ENSG00000135083	ENST00000393977;ENST00000257536	T;T	0.30981	1.92;1.51	5.44	2.24	0.28232	.	0.327704	0.32386	N	0.006165	T	0.15176	0.0366	N	0.25647	0.755	0.80722	D	1	B;B	0.25563	0.001;0.129	B;B	0.15870	0.008;0.014	T	0.08269	-1.0730	10	0.10636	T	0.68	-25.674	6.1404	0.20257	0.2543:0.0:0.6037:0.142	.	346;394	B4DZA8;Q8IV13	.;CCNJL_HUMAN	S	394;346	ENSP00000377547:P394S;ENSP00000257536:P346S	ENSP00000257536:P346S	P	-	1	0	CCNJL	159613091	1.000000	0.71417	0.452000	0.26994	0.016000	0.09150	3.449000	0.52950	0.615000	0.30124	-0.136000	0.14681	CCC	CCNJL	-	NULL	ENSG00000135083		0.617	CCNJL-001	KNOWN	basic|CCDS	protein_coding	CCNJL	HGNC	protein_coding	OTTHUMT00000252674.1		0.00	81	0	G	NM_024565		159680513	-1			no_errors	ENST00000393977	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.948	A
CDH2	1000	genome.wustl.edu	37	18	25570060	25570060	+	Splice_Site	SNP	C	C	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr18:25570060C>A	ENST00000269141.3	-	10	2022		c.e10+1		CDH2_ENST00000399380.3_Splice_Site	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)						adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCATTTCATACCTAATATTTT	0.358																																																	0													143.0	127.0	133.0					18																	25570060		2203	4300	6503	SO:0001630	splice_region_variant	0			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1598+1G>T	18.37:g.25570060C>A			A8MWK3|B0YIY6|Q14923|Q8N173	Splice_Site	SNP	-	e10+1	ENST00000269141.3	37	c.1598+1	CCDS11891.1	18	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638087	0.87760	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4702	0.99162	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDH2	23824058	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.319000	0.79040	2.937000	0.99478	0.650000	0.86243	.	CDH2	-	-	ENSG00000170558		0.358	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH2	HGNC	protein_coding	OTTHUMT00000133246.3	-	0.00	94	0	C	NM_001792	Intron	25570060	-1	tier1	-	no_errors	ENST00000269141	ensembl	human	known	74_37	splice_site	31.58	26	12	SNP	1.000	A
CDH2	1000	genome.wustl.edu	37	18	25570148	25570148	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr18:25570148A>T	ENST00000269141.3	-	10	1934	c.1511T>A	c.(1510-1512)aTt>aAt	p.I504N	CDH2_ENST00000399380.3_Missense_Mutation_p.I473N	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	504	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTCTTGGCGAATGATCTTAGG	0.453																																																	0													154.0	139.0	144.0					18																	25570148		2203	4300	6503	SO:0001583	missense	0			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1511T>A	18.37:g.25570148A>T	ENSP00000269141:p.Ile504Asn		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.I504N	ENST00000269141.3	37	c.1511	CCDS11891.1	18	.	.	.	.	.	.	.	.	.	.	A	26.7	4.761072	0.89932	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.55760	0.5;0.5	6.16	6.16	0.99307	Cadherin (3);Cadherin-like (1);	0.104722	0.64402	D	0.000004	T	0.74045	0.3665	M	0.92555	3.32	0.58432	D	0.999999	P;P	0.52842	0.815;0.956	P;P	0.52881	0.561;0.712	T	0.81315	-0.0988	10	0.87932	D	0	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	473;504	A8MWK3;P19022	.;CADH2_HUMAN	N	504;473	ENSP00000269141:I504N;ENSP00000382312:I473N	ENSP00000269141:I504N	I	-	2	0	CDH2	23824146	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.962000	0.93254	2.367000	0.80283	0.528000	0.53228	ATT	CDH2	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000170558		0.453	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH2	HGNC	protein_coding	OTTHUMT00000133246.3	-	0.00	128	0	A	NM_001792		25570148	-1	tier1	-	no_errors	ENST00000269141	ensembl	human	known	74_37	missense	41.79	39	28	SNP	1.000	T
CHIC1	53344	genome.wustl.edu	37	X	72804366	72804366	+	Silent	SNP	A	A	G			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chrX:72804366A>G	ENST00000373502.5	+	3	542	c.465A>G	c.(463-465)acA>acG	p.T155T	CHIC1_ENST00000373504.6_Silent_p.T155T	NM_001039840.2	NP_001034929.2	Q5VXU3	CHIC1_HUMAN	cysteine-rich hydrophobic domain 1	155	Cys-rich.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(2)	4	Renal(35;0.156)					GCTGTTGCACACTGGGTTGCA	0.388																																																	0													130.0	102.0	111.0					X																	72804366		2160	4202	6362	SO:0001819	synonymous_variant	0			Y11897	CCDS35335.2, CCDS75993.1	Xq13.2	2008-05-14			ENSG00000204116	ENSG00000204116			1934	protein-coding gene	gene with protein product		300922				9321471, 11257495	Standard	NM_001039840		Approved	BRX	uc004ebk.4	Q5VXU3	OTTHUMG00000021835	ENST00000373502.5:c.465A>G	X.37:g.72804366A>G			A0PJZ2|B0QZ87|B9EGS5|Q5CZ84	Silent	SNP	pfam_Golgin_A_7/ERF4	p.T155	ENST00000373502.5	37	c.465	CCDS35335.2	X																																																																																			CHIC1	-	pfam_Golgin_A_7/ERF4	ENSG00000204116		0.388	CHIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHIC1	HGNC	protein_coding	OTTHUMT00000057233.3	-	0.00	51	0	A			72804366	+1	tier1	-	no_errors	ENST00000373502	ensembl	human	known	74_37	silent	39.22	31	20	SNP	0.967	G
CHST3	9469	genome.wustl.edu	37	10	73767768	73767768	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr10:73767768G>T	ENST00000373115.4	+	3	1416	c.979G>T	c.(979-981)Gac>Tac	p.D327Y		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	327					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						GTGGCTGGACGACGAGGGCCA	0.711																																																	0																																										SO:0001583	missense	0			AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"""Sulfotransferases, membrane-bound"""	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.979G>T	10.37:g.73767768G>T	ENSP00000362207:p.Asp327Tyr		O75099|Q52M30	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.D327Y	ENST00000373115.4	37	c.979	CCDS7312.1	10	.	.	.	.	.	.	.	.	.	.	G	5.128	0.209284	0.09757	.	.	ENSG00000122863	ENST00000373115	D	0.82344	-1.6	5.55	2.58	0.30949	Sulfotransferase domain (1);	0.450870	0.25610	N	0.029490	T	0.73690	0.3619	L	0.41492	1.28	0.09310	N	1	B	0.22211	0.066	B	0.12837	0.008	T	0.64214	-0.6460	10	0.66056	D	0.02	.	8.5761	0.33598	0.0718:0.0:0.4106:0.5176	.	327	Q7LGC8	CHST3_HUMAN	Y	327	ENSP00000362207:D327Y	ENSP00000362207:D327Y	D	+	1	0	CHST3	73437774	0.000000	0.05858	0.749000	0.31150	0.609000	0.37215	-0.031000	0.12287	0.262000	0.21774	0.561000	0.74099	GAC	CHST3	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	ENSG00000122863		0.711	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST3	HGNC	protein_coding	OTTHUMT00000048563.1	-	0.00	18	0	G	NM_004273		73767768	+1	tier1	-	no_errors	ENST00000373115	ensembl	human	known	74_37	missense	44.44	5	4	SNP	0.008	T
CLCN1	1180	genome.wustl.edu	37	7	143020445	143020445	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:143020445G>T	ENST00000343257.2	+	6	827	c.740G>T	c.(739-741)aGc>aTc	p.S247I	CLCN1_ENST00000495612.1_Intron	NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	247					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GCTGTCCTCAGCAAATTCATG	0.602																																																	0													113.0	100.0	105.0					7																	143020445		2203	4300	6503	SO:0001583	missense	0			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.740G>T	7.37:g.143020445G>T	ENSP00000339867:p.Ser247Ile		A4D2H5|Q2M202	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1	p.S247I	ENST00000343257.2	37	c.740	CCDS5881.1	7	.	.	.	.	.	.	.	.	.	.	.	25.0	4.594510	0.86953	.	.	ENSG00000188037	ENST00000343257	D	0.94897	-3.55	4.27	4.27	0.50696	Chloride channel, core (2);	0.090695	0.85682	D	0.000000	D	0.97259	0.9104	M	0.82433	2.59	0.53688	D	0.999979	D	0.89917	1.0	D	0.83275	0.996	D	0.98160	1.0446	10	0.87932	D	0	.	16.9618	0.86274	0.0:0.0:1.0:0.0	.	247	P35523	CLCN1_HUMAN	I	247	ENSP00000339867:S247I	ENSP00000339867:S247I	S	+	2	0	CLCN1	142730567	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.625000	0.98406	2.219000	0.72066	0.650000	0.86243	AGC	CLCN1	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core	ENSG00000188037		0.602	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN1	HGNC	protein_coding	OTTHUMT00000327420.1		0.00	61	0	G	NM_000083		143020445	+1			no_errors	ENST00000343257	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T
COL20A1	57642	genome.wustl.edu	37	20	61926504	61926504	+	Silent	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr20:61926504G>A	ENST00000358894.6	+	2	145	c.45G>A	c.(43-45)ctG>ctA	p.L15L	COL20A1_ENST00000326996.6_Silent_p.L15L|COL20A1_ENST00000435874.1_Silent_p.L15L|COL20A1_ENST00000422202.1_Silent_p.L15L	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	15					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCCTCTGGCTGTGGCTGGGCG	0.682																																																	0													11.0	15.0	13.0					20																	61926504		1995	4088	6083	SO:0001819	synonymous_variant	0			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.45G>A	20.37:g.61926504G>A			Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.L15	ENST00000358894.6	37	c.45	CCDS46628.1	20																																																																																			COL20A1	-	NULL	ENSG00000101203		0.682	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2	-	0.00	158	0	G	NM_020882		61926504	+1	tier1	-	no_errors	ENST00000326996	ensembl	human	known	74_37	silent	20.79	141	37	SNP	0.949	A
COL25A1	84570	genome.wustl.edu	37	4	110223107	110223107	+	Silent	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr4:110223107G>A	ENST00000399132.1	-	2	599	c.69C>T	c.(67-69)gcC>gcT	p.A23A	AC004051.2_ENST00000500526.1_lincRNA|COL25A1_ENST00000399126.1_Silent_p.A23A|COL25A1_ENST00000399127.1_Silent_p.A23A	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AATGCTGTTCGGCAGGGGTCG	0.672																																																	0													45.0	49.0	48.0					4																	110223107		1973	4157	6130	SO:0001819	synonymous_variant	0			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.69C>T	4.37:g.110223107G>A				Silent	SNP	pfam_Collagen	p.A23	ENST00000399132.1	37	c.69	CCDS43258.1	4																																																																																			COL25A1	-	NULL	ENSG00000188517		0.672	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL25A1	HGNC	protein_coding	OTTHUMT00000315938.2	-	0.00	117	0	G	NM_032518		110223107	-1	tier1	-	no_errors	ENST00000399132	ensembl	human	known	74_37	silent	18.00	82	18	SNP	0.000	A
CRYBB1	1414	genome.wustl.edu	37	22	27008099	27008099	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr22:27008099T>C	ENST00000215939.2	-	3	366	c.236A>G	c.(235-237)gAg>gGg	p.E79G		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	79	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						ATTTGAGCACTCCCCCGAGAA	0.627																																																	0													94.0	82.0	86.0					22																	27008099		2203	4300	6503	SO:0001583	missense	0				CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.236A>G	22.37:g.27008099T>C	ENSP00000215939:p.Glu79Gly			Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.E79G	ENST00000215939.2	37	c.236	CCDS13840.1	22	.	.	.	.	.	.	.	.	.	.	T	18.24	3.580586	0.65992	.	.	ENSG00000100122	ENST00000215939	T	0.75477	-0.94	3.85	3.85	0.44370	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.85622	0.5739	M	0.85373	2.75	0.80722	D	1	D	0.63046	0.992	D	0.68943	0.961	D	0.87757	0.2596	10	0.87932	D	0	.	11.9573	0.52988	0.0:0.0:0.0:1.0	.	79	P53674	CRBB1_HUMAN	G	79	ENSP00000215939:E79G	ENSP00000215939:E79G	E	-	2	0	CRYBB1	25338099	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	7.002000	0.76304	1.596000	0.50062	0.402000	0.26972	GAG	CRYBB1	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin	ENSG00000100122		0.627	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYBB1	HGNC	protein_coding	OTTHUMT00000320767.1		0.00	40	0	T	NM_001887		27008099	-1			no_errors	ENST00000215939	ensembl	human	known	74_37	missense	5.66	49	3	SNP	1.000	C
CSMD1	64478	genome.wustl.edu	37	8	2857633	2857633	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr8:2857633C>G	ENST00000520002.1	-	54	8608	c.8053G>C	c.(8053-8055)Gac>Cac	p.D2685H	CSMD1_ENST00000602557.1_Missense_Mutation_p.D2685H|CSMD1_ENST00000542608.1_Missense_Mutation_p.D2626H|CSMD1_ENST00000537824.1_Missense_Mutation_p.D2684H|CSMD1_ENST00000602723.1_Missense_Mutation_p.D2627H|CSMD1_ENST00000400186.3_Missense_Mutation_p.D2627H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2685	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACAATCGGGTCTGGGGAACCG	0.418																																																	0													73.0	72.0	72.0					8																	2857633		1882	4107	5989	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8053G>C	8.37:g.2857633C>G	ENSP00000430733:p.Asp2685His		Q0H0J5|Q96QU9|Q96RM4	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.D2685H	ENST00000520002.1	37	c.8053		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.040921|4.040921	0.75732|0.75732	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.65732|.	-0.17;-0.17;-0.17;-0.17|.	5.77|5.77	5.77|5.77	0.91146|0.91146	Complement control module (2);Sushi/SCR/CCP (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65460|0.65460	0.2693|0.2693	L|L	0.33668|0.33668	1.02|1.02	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;0.999;1.0|.	D;D;D|.	0.76575|.	0.969;0.972;0.988|.	T|T	0.58086|0.58086	-0.7698|-0.7698	10|5	0.45353|.	T|.	0.12|.	.|.	20.3473|20.3473	0.98799|0.98799	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2685;2685;2626|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	H|T	2627;2685;2546;2684;2626|2101	ENSP00000383047:D2627H;ENSP00000430733:D2685H;ENSP00000441462:D2684H;ENSP00000446243:D2626H|.	ENSP00000320445:D2546H|.	D|R	-|-	1|2	0|0	CSMD1|CSMD1	2845040|2845040	1.000000|1.000000	0.71417|0.71417	0.393000|0.393000	0.26258|0.26258	0.512000|0.512000	0.34134|0.34134	7.570000|7.570000	0.82390|0.82390	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GAC|AGA	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.418	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0.00	62	0	C	NM_033225		2857633	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	73.33	8	22	SNP	1.000	G
CSNK1E	1454	genome.wustl.edu	37	22	38690402	38690402	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr22:38690402G>A	ENST00000396832.1	-	8	1284	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	CSNK1E_ENST00000359867.3_Missense_Mutation_p.R342C|CSNK1E_ENST00000498529.1_5'Flank|CSNK1E_ENST00000400206.2_Missense_Mutation_p.R342C|CSNK1E_ENST00000403904.1_Missense_Mutation_p.R342C	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	342					cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GCGGCACTGCGGAGCCGGTTG	0.736																																					Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)												0													5.0	6.0	6.0					22																	38690402		2089	4029	6118	SO:0001583	missense	0				CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.1024C>T	22.37:g.38690402G>A	ENSP00000380044:p.Arg342Cys			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.R342C	ENST00000396832.1	37	c.1024	CCDS13970.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.116104|4.116104	0.77323|0.77323	.|.	.|.	ENSG00000213923|ENSG00000213923	ENST00000431632|ENST00000359867;ENST00000396832;ENST00000402865;ENST00000400206;ENST00000403904	.|T;T;T;T	.|0.09911	.|2.93;2.93;2.93;2.93	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.047571	.|0.85682	.|D	.|0.000000	T|T	0.17916|0.17916	0.0430|0.0430	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.67145	.|0.996	.|P	.|0.49752	.|0.621	T|T	0.00142|0.00142	-1.1997|-1.1997	5|10	.|0.66056	.|D	.|0.02	.|.	14.3394|14.3394	0.66614|0.66614	0.0:0.0:0.8518:0.1482|0.0:0.0:0.8518:0.1482	.|.	.|342	.|P49674	.|KC1E_HUMAN	L|C	69|342	.|ENSP00000352929:R342C;ENSP00000380044:R342C;ENSP00000383067:R342C;ENSP00000384074:R342C	.|ENSP00000352929:R342C	P|R	-|-	2|1	0|0	CSNK1E|CSNK1E	37020348|37020348	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	3.814000|3.814000	0.55643|0.55643	2.602000|2.602000	0.87976|0.87976	0.555000|0.555000	0.69702|0.69702	CCG|CGC	CSNK1E	-	NULL	ENSG00000213923		0.736	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CSNK1E	HGNC	protein_coding	OTTHUMT00000321462.1	-	0.00	11	0	G	NM_001894		38690402	-1	tier1	-	no_errors	ENST00000359867	ensembl	human	known	74_37	missense	90.91	1	10	SNP	1.000	A
CXCR3	2833	genome.wustl.edu	37	X	70837155	70837155	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chrX:70837155A>C	ENST00000373693.3	-	2	234	c.167T>G	c.(166-168)cTg>cGg	p.L56R	CXCR3_ENST00000373691.4_Missense_Mutation_p.L103R	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	56					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					GAGGGCTGGCAGGAAGGCCCG	0.637																																																	0													36.0	36.0	36.0					X																	70837155		2202	4296	6498	SO:0001583	missense	0			U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	4540	protein-coding gene	gene with protein product		300574	"""G protein-coupled receptor 9"""	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.167T>G	X.37:g.70837155A>C	ENSP00000362797:p.Leu56Arg		B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR3,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_Chemokine_rcpt,prints_ATII_rcpt	p.L103R	ENST00000373693.3	37	c.308	CCDS14416.1	X	.	.	.	.	.	.	.	.	.	.	A	13.36	2.212687	0.39102	.	.	ENSG00000186810	ENST00000373691;ENST00000373693;ENST00000373687	T;T	0.48836	0.8;0.8	5.28	4.13	0.48395	.	0.534610	0.17389	N	0.175990	T	0.52933	0.1765	M	0.90198	3.095	0.31804	N	0.62804	B;P	0.39576	0.27;0.679	B;B	0.36719	0.151;0.231	T	0.65845	-0.6069	10	0.87932	D	0	.	8.1039	0.30874	0.9047:0.0:0.0953:0.0	.	103;56	P49682-2;P49682	.;CXCR3_HUMAN	R	103;56;56	ENSP00000362795:L103R;ENSP00000362797:L56R	ENSP00000362791:L56R	L	-	2	0	CXCR3	70753880	0.011000	0.17503	0.984000	0.44739	0.292000	0.27327	1.352000	0.34033	0.821000	0.34540	0.486000	0.48141	CTG	CXCR3	-	prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_Chemokine_rcpt	ENSG00000186810		0.637	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR3	HGNC	protein_coding	OTTHUMT00000144141.1		0.00	9	0	A			70837155	-1			no_errors	ENST00000373691	ensembl	human	known	74_37	missense	81.82	2	9	SNP	0.996	C
DDX11L1	100287102	genome.wustl.edu	37	1	13308	13308	+	RNA	SNP	T	T	G			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:13308T>G	ENST00000456328.2	+	0	556					NR_046018.2|NR_051986.1				DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 1																		GACACGCTGTTGGCCTGGATC	0.577																																																	0																																												0			AM992871		1p36.33	2012-02-23	2012-02-23		ENSG00000223972	ENSG00000223972			37102	pseudogene	pseudogene			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 1"""			19476624	Standard	NR_046018		Approved		uc010nxq.1		OTTHUMG00000000961		1.37:g.13308T>G				RNA	SNP	-	NULL	ENST00000456328.2	37	NULL		1																																																																																			DDX11L1	-	-	ENSG00000223972		0.577	DDX11L1-002	KNOWN	basic	processed_transcript	DDX11L1	HGNC	pseudogene	OTTHUMT00000362751.1	-	0.00	44	0	T			13308	+1	tier1	-	no_errors	ENST00000456328	ensembl	human	known	74_37	rna	16.67	30	6	SNP	0.998	G
DGKK	139189	genome.wustl.edu	37	X	50165516	50165516	+	RNA	SNP	G	G	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chrX:50165516G>T	ENST00000376025.2	-	0	824							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCGTTTCAAAGTGTGCAAACT	0.418																																																	0													86.0	81.0	83.0					X																	50165516		1940	4133	6073			0			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50165516G>T			B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-	ENSG00000204466		0.418	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	-	0.00	73	0	G	NM_001013742		50165516	-1	tier1	-	no_errors	ENST00000376025	ensembl	human	known	74_37	rna	78.46	14	51	SNP	0.984	T
DLEC1	9940	genome.wustl.edu	37	3	38138760	38138760	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr3:38138760G>T	ENST00000308059.6	+	16	2449	c.2428G>T	c.(2428-2430)Gtc>Ttc	p.V810F	DLEC1_ENST00000452631.2_Missense_Mutation_p.V810F|DLEC1_ENST00000346219.3_Missense_Mutation_p.V810F					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CGGCACAGGGGTCATAGGTAC	0.552																																																	0																																										SO:0001583	missense	0			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2428G>T	3.37:g.38138760G>T	ENSP00000308597:p.Val810Phe			Missense_Mutation	SNP	superfamily_PapD-like	p.V810F	ENST00000308059.6	37	c.2428	CCDS2672.2	3	.	.	.	.	.	.	.	.	.	.	G	7.690	0.690915	0.15039	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05996	3.38;3.36;3.61	4.68	0.33	0.15929	.	1.280920	0.05354	N	0.532401	T	0.06005	0.0156	L	0.36672	1.1	0.26466	N	0.975368	B;B;B	0.28760	0.054;0.221;0.054	B;B;B	0.19666	0.026;0.023;0.026	T	0.44034	-0.9354	10	0.25751	T	0.34	-4.5739	8.6993	0.34316	0.7491:0.0:0.2509:0.0	.	810;810;810	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	F	810	ENSP00000308597:V810F;ENSP00000315914:V810F;ENSP00000410427:V810F	ENSP00000308597:V810F	V	+	1	0	DLEC1	38113764	0.000000	0.05858	0.853000	0.33588	0.835000	0.47333	0.025000	0.13577	0.062000	0.16340	0.655000	0.94253	GTC	DLEC1	-	superfamily_PapD-like	ENSG00000008226		0.552	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	-	0.00	104	0	G	NM_007337		38138760	+1	tier1	-	no_errors	ENST00000346219	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.395	T
DLG1	1739	genome.wustl.edu	37	3	196857506	196857506	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr3:196857506C>T	ENST00000419354.1	-	12	1442	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	DLG1_ENST00000452595.1_Missense_Mutation_p.E270K|DLG1_ENST00000422288.1_Missense_Mutation_p.E335K|DLG1_ENST00000314062.3_Missense_Mutation_p.E335K|DLG1_ENST00000443183.1_Missense_Mutation_p.E270K|DLG1_ENST00000357674.4_Missense_Mutation_p.E353K|DLG1_ENST00000448528.2_Missense_Mutation_p.E386K|DLG1_ENST00000450955.1_Missense_Mutation_p.E353K|DLG1_ENST00000346964.2_Missense_Mutation_p.E386K|DLG1_ENST00000392382.2_Missense_Mutation_p.E353K			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	386	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GTTACTGCTTCTTCATGAGTA	0.333																																																	0													143.0	129.0	134.0					3																	196857506		2203	4300	6503	SO:0001583	missense	0			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.1156G>A	3.37:g.196857506C>T	ENSP00000407531:p.Glu386Lys		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.E386K	ENST00000419354.1	37	c.1156	CCDS43194.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.299391	0.95574	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955;ENST00000447466	T;T;T;T;T;T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0	5.65	5.65	0.86999	PDZ/DHR/GLGF (4);	0.124257	0.53938	D	0.000049	T	0.40815	0.1132	L	0.58428	1.81	0.58432	D	0.999999	P;P;P;P;P;P;P	0.45768	0.614;0.661;0.866;0.866;0.609;0.686;0.609	B;P;P;P;B;P;B	0.55923	0.341;0.708;0.601;0.601;0.381;0.787;0.287	T	0.06679	-1.0813	10	0.62326	D	0.03	.	18.7045	0.91632	0.0:1.0:0.0:0.0	.	353;270;270;270;353;386;386	Q12959-4;E9PG21;E7EWL7;B4DGU1;Q12959-3;Q12959;Q12959-2	.;.;.;.;.;DLG1_HUMAN;.	K	386;386;353;386;335;386;270;335;386;270;353;353;195	ENSP00000345731:E386K;ENSP00000350303:E353K;ENSP00000321087:E335K;ENSP00000407531:E386K;ENSP00000398939:E270K;ENSP00000413238:E335K;ENSP00000391732:E386K;ENSP00000396658:E270K;ENSP00000376187:E353K;ENSP00000411278:E353K;ENSP00000398702:E195K	ENSP00000321087:E335K	E	-	1	0	DLG1	198341903	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.397000	0.44477	2.667000	0.90743	0.455000	0.32223	GAA	DLG1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ	ENSG00000075711		0.333	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DLG1	HGNC	protein_coding	OTTHUMT00000258170.2	-	0.00	55	0	C	NM_004087		196857506	-1	tier1	-	no_errors	ENST00000346964	ensembl	human	known	74_37	missense	48.39	32	30	SNP	1.000	T
DNAH10	196385	genome.wustl.edu	37	12	124332541	124332541	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr12:124332541G>A	ENST00000409039.3	+	32	5519	c.5494G>A	c.(5494-5496)Ggc>Agc	p.G1832S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1832	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGCCCCCGCCGGCCCAGCAGG	0.537																																																	0													83.0	90.0	88.0					12																	124332541		1944	4158	6102	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5494G>A	12.37:g.124332541G>A	ENSP00000386770:p.Gly1832Ser		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.G1832S	ENST00000409039.3	37	c.5494	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630021	0.87660	.	.	ENSG00000197653	ENST00000409039	D	0.93547	-3.24	5.53	5.53	0.82687	ATPase, AAA+ type, core (1);	0.000000	0.85682	U	0.000000	D	0.98140	0.9386	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99338	1.0911	10	0.87932	D	0	.	19.0379	0.92986	0.0:0.0:1.0:0.0	.	1832	Q8IVF4	DYH10_HUMAN	S	1832	ENSP00000386770:G1832S	ENSP00000386770:G1832S	G	+	1	0	DNAH10	122898494	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	9.821000	0.99360	2.598000	0.87819	0.555000	0.69702	GGC	DNAH10	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000197653		0.537	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0.00	50	0	G			124332541	+1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	missense	51.22	20	21	SNP	1.000	A
CSPG4P5	114817	genome.wustl.edu	37	15	84959139	84959139	+	RNA	SNP	G	G	C			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr15:84959139G>C	ENST00000558801.1	-	0	5590									DNM1 pseudogene 51																		TGCTGCGGTGGATTTGTATGG	0.637																																																	0																																												0					15q25.2	2013-05-16			ENSG00000259297	ENSG00000235370			48500	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000172438		15.37:g.84959139G>C				RNA	SNP	-	NULL	ENST00000558801.1	37	NULL		15	.	.	.	.	.	.	.	.	.	.	.	1.187	-0.636362	0.03557	.	.	ENSG00000235370	ENST00000456932	.	.	.	.	.	.	.	1.651350	0.03055	N	0.155116	T	0.27384	0.0672	.	.	.	.	.	.	.	.	.	.	.	.	T	0.23440	-1.0188	4	0.48119	T	0.1	.	2.8676	0.05607	3.0E-4:2.0E-4:0.5038:0.4957	.	.	.	.	M	173	.	ENSP00000389645:I173M	I	-	3	3	CSPG4P5	82750143	0.000000	0.05858	0.122000	0.21767	0.123000	0.20343	-1.635000	0.02018	0.107000	0.17824	0.109000	0.15622	ATC	DNM1P51	-	-	ENSG00000235370		0.637	DNM1P51-001	KNOWN	basic	processed_transcript	DNM1P51	HGNC	pseudogene	OTTHUMT00000471721.1	-	0.00	14	0	G			84959139	-1	tier1	-	no_errors	ENST00000558801	ensembl	human	known	74_37	rna	71.43	2	5	SNP	0.853	C
CSPG4P5	114817	genome.wustl.edu	37	15	84959829	84959829	+	RNA	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr15:84959829G>A	ENST00000558801.1	-	0	4900									DNM1 pseudogene 51																		CCACCACTGCGCTGATAGCAG	0.602																																																	0																																												0					15q25.2	2013-05-16			ENSG00000259297	ENSG00000235370			48500	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000172438		15.37:g.84959829G>A				RNA	SNP	-	NULL	ENST00000558801.1	37	NULL		15																																																																																			DNM1P51	-	-	ENSG00000235370		0.602	DNM1P51-001	KNOWN	basic	processed_transcript	DNM1P51	HGNC	pseudogene	OTTHUMT00000471721.1	-	0.00	19	0	G			84959829	-1	tier1	-	no_errors	ENST00000558801	ensembl	human	known	74_37	rna	37.50	15	9	SNP	0.264	A
DPYD	1806	genome.wustl.edu	37	1	97839190	97839190	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:97839190G>T	ENST00000370192.3	-	16	2085	c.1985C>A	c.(1984-1986)gCa>gAa	p.A662E		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	662					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CAGGGCATCTGCTCCAGAATC	0.428																																																	0													54.0	53.0	54.0					1																	97839190		2203	4300	6503	SO:0001583	missense	0			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1985C>A	1.37:g.97839190G>T	ENSP00000359211:p.Ala662Glu		A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH	p.A662E	ENST00000370192.3	37	c.1985	CCDS30777.1	1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885048	0.91814	.	.	ENSG00000188641	ENST00000370192	T	0.80123	-1.34	5.57	5.57	0.84162	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.93374	0.7887	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94809	0.7977	10	0.87932	D	0	-17.0079	19.9003	0.96983	0.0:0.0:1.0:0.0	.	662	Q12882	DPYD_HUMAN	E	662	ENSP00000359211:A662E	ENSP00000359211:A662E	A	-	2	0	DPYD	97611778	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.966000	0.93397	2.776000	0.95493	0.585000	0.79938	GCA	DPYD	-	pfam_Dihydroorotate_DH_1_2,pfam_tRNA_hU_synthase,tigrfam_Dihydroorotate_DH	ENSG00000188641		0.428	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	HGNC	protein_coding	OTTHUMT00000095698.3		0.00	76	0	G	NM_000110		97839190	-1			no_errors	ENST00000370192	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T
EBF1	1879	genome.wustl.edu	37	5	158139190	158139190	+	Silent	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr5:158139190G>A	ENST00000313708.6	-	14	1803	c.1521C>T	c.(1519-1521)aaC>aaT	p.N507N	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Intron|EBF1_ENST00000380654.4_Silent_p.N476N	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	507	Pro/Ser/Thr-rich.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|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)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCTGAGCCGTTGAGGAAGG	0.562			T	HMGA2	lipoma																																			Dom	yes		5	5q34	1879	early B-cell factor 1		M	0													73.0	56.0	62.0					5																	158139190		2203	4300	6503	SO:0001819	synonymous_variant	0			AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1521C>T	5.37:g.158139190G>A			Q8IW11	Silent	SNP	pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT	p.N507	ENST00000313708.6	37	c.1521	CCDS4343.1	5																																																																																			EBF1	-	NULL	ENSG00000164330		0.562	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EBF1	HGNC	protein_coding	OTTHUMT00000252649.1	-	0.00	69	0	G	NM_024007		158139190	-1	tier1	-	no_errors	ENST00000313708	ensembl	human	known	74_37	silent	41.38	17	12	SNP	0.640	A
EBF4	57593	genome.wustl.edu	37	20	2686365	2686365	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr20:2686365G>A	ENST00000609451.1	+	2	352	c.280G>A	c.(280-282)Gtg>Atg	p.V94M	EBF4_ENST00000380648.4_Missense_Mutation_p.V90M			Q9BQW3	COE4_HUMAN	early B-cell factor 4	94					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CATCGACTTCGTGGAAAAGGA	0.602																																																	0													103.0	100.0	101.0					20																	2686365		692	1591	2283	SO:0001583	missense	0			BC019106	CCDS46573.1	20p13	2008-10-23			ENSG00000088881	ENSG00000088881			29278	protein-coding gene	gene with protein product		609935				10718198	Standard	NM_001110514		Approved	KIAA1442, COE4, RP5-860F19.3, O/E-4	uc002wgt.4	Q9BQW3	OTTHUMG00000031709	ENST00000609451.1:c.280G>A	20.37:g.2686365G>A	ENSP00000477023:p.Val94Met		Q1MTP7|Q5JY53|Q9NUB6|Q9P2A6	Missense_Mutation	SNP	pfam_IPT,superfamily_Ig_E-set,smart_IPT	p.V90M	ENST00000609451.1	37	c.268		20	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059596	0.76074	.	.	ENSG00000088881	ENST00000380648;ENST00000342725	T;T	0.55413	0.52;0.52	4.64	4.64	0.57946	.	0.150499	0.30374	N	0.009768	T	0.64757	0.2627	L	0.54323	1.7	0.41304	D	0.987067	D	0.76494	0.999	P	0.61201	0.885	T	0.67043	-0.5770	10	0.51188	T	0.08	-17.6545	15.4209	0.75009	0.0:0.0:1.0:0.0	.	90	E9PEI2	.	M	90;94	ENSP00000370022:V90M;ENSP00000345030:V94M	ENSP00000345030:V94M	V	+	1	0	EBF4	2634365	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.870000	0.87175	2.301000	0.77427	0.485000	0.47835	GTG	EBF4	-	NULL	ENSG00000088881		0.602	EBF4-011	PUTATIVE	basic|appris_candidate_longest	protein_coding	EBF4	HGNC	protein_coding	OTTHUMT00000471930.1	-	0.00	132	0	G	XM_938882		2686365	+1	tier1	-	no_errors	ENST00000380648	ensembl	human	known	74_37	missense	19.63	86	21	SNP	1.000	A
EFCC1	79825	genome.wustl.edu	37	3	128753059	128753059	+	Missense_Mutation	SNP	G	G	A	rs567338824		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr3:128753059G>A	ENST00000480450.1	+	5	1336	c.1336G>A	c.(1336-1338)Ggt>Agt	p.G446S	EFCC1_ENST00000436022.2_Missense_Mutation_p.G9S			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	446							calcium ion binding (GO:0005509)										TCACTTCGGCGGTGCCAACCA	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17497	0.0		0.0	False		,,,				2504	0.001																0													91.0	87.0	88.0					3																	128753059		2203	4300	6503	SO:0001583	missense	0			AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"""EF-hand domain containing"""	25692	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 73"", ""coiled-coil domain containing 48"""	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.1336G>A	3.37:g.128753059G>A	ENSP00000420075:p.Gly446Ser		A8MYE2	Missense_Mutation	SNP	NULL	p.G9S	ENST00000480450.1	37	c.25	CCDS3054.2	3	.	.	.	.	.	.	.	.	.	.	G	3.099	-0.185095	0.06340	.	.	ENSG00000114654	ENST00000480450;ENST00000436022	T;T	0.40225	1.08;1.04	4.47	-6.32	0.01995	.	1.493250	0.04107	N	0.313955	T	0.22282	0.0537	N	0.26042	0.785	0.09310	N	1	B	0.27117	0.168	B	0.20955	0.032	T	0.20207	-1.0282	10	0.07644	T	0.81	.	7.2567	0.26181	0.3134:0.1346:0.552:0.0	.	446	Q9HA90	CCD48_HUMAN	S	446;9	ENSP00000420075:G446S;ENSP00000414597:G9S	ENSP00000414597:G9S	G	+	1	0	CCDC48	130235749	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.250000	0.18235	-1.407000	0.02043	0.313000	0.20887	GGT	EFCC1	-	NULL	ENSG00000114654		0.637	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	EFCC1	HGNC	protein_coding	OTTHUMT00000352832.1	-	0.00	61	0	G	NM_024768		128753059	+1	tier1	-	no_errors	ENST00000436022	ensembl	human	known	74_37	missense	16.67	40	8	SNP	0.000	A
EID3	493861	genome.wustl.edu	37	12	104698038	104698038	+	Nonsense_Mutation	SNP	C	C	A	rs370366308		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr12:104698038C>A	ENST00000527879.1	+	1	522	c.326C>A	c.(325-327)tCa>tAa	p.S109*	TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000378070.4_Intron	NM_001008394.2	NP_001008395.1			EP300 interacting inhibitor of differentiation 3											large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CAGTTAAACTCAGATATGAAC	0.443																																																	0													143.0	143.0	143.0					12																	104698038		1949	4146	6095	SO:0001587	stop_gained	0			BC027612	CCDS53822.1	12q23.3	2006-11-24				ENSG00000255150			32961	protein-coding gene	gene with protein product		612986				15987788, 15752197	Standard	NM_001008394		Approved	FLJ25832, NSMCE4B, NSE4B	uc001tkw.3	Q8N140		ENST00000527879.1:c.326C>A	12.37:g.104698038C>A	ENSP00000435619:p.Ser109*			Nonsense_Mutation	SNP	pfam_Nse4_C	p.S109*	ENST00000527879.1	37	c.326	CCDS53822.1	12	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250076	0.80024	.	.	ENSG00000255150	ENST00000527879	.	.	.	4.32	0.0852	0.14440	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2497	0.31710	0.0:0.4008:0.505:0.0941	.	.	.	.	X	109	.	ENSP00000435619:S109X	S	+	2	0	EID3	103222168	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-0.168000	0.09925	-0.076000	0.12775	0.555000	0.69702	TCA	EID3	-	pfam_Nse4_C	ENSG00000255150		0.443	EID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EID3	HGNC	protein_coding	OTTHUMT00000387034.1	-	0.00	79	0	C	NM_001008394		104698038	+1	tier1	-	no_errors	ENST00000527879	ensembl	human	known	74_37	nonsense	76.09	11	35	SNP	0.000	A
ELOVL5	60481	genome.wustl.edu	37	6	53138125	53138125	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:53138125G>A	ENST00000542638.1	-	6	961	c.514C>T	c.(514-516)Ctt>Ttt	p.L172F	ELOVL5_ENST00000370918.4_Missense_Mutation_p.L162F|ELOVL5_ENST00000541407.1_Missense_Mutation_p.L199F|ELOVL5_ENST00000304434.6_Missense_Mutation_p.L172F|ELOVL5_ENST00000486973.1_5'Flank			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	172				YFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQL LQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTN FYIQTYNKKGASRR -> SVCADNHPDQLRGHLAVHIPSWL VVFPDWIHDFPDCSLHKLLHSDLQQERGLPKERPPEGPPEW VHGCCEWTHQQLFTPGKQCEAKEAAEGLKSKN (in Ref. 4; BAD93035). {ECO:0000305}.	alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					AAGCTATTAAGTGTGGCACCA	0.413																																																	0													162.0	148.0	153.0					6																	53138125		2203	4300	6503	SO:0001583	missense	0			AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"""ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"", ""spinocerebellar ataxia 38"""	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.514C>T	6.37:g.53138125G>A	ENSP00000440728:p.Leu172Phe		B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Missense_Mutation	SNP	pfam_GNS1_SUR4	p.L199F	ENST00000542638.1	37	c.595	CCDS4951.1	6	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703102	0.48412	.	.	ENSG00000012660	ENST00000370918;ENST00000304434;ENST00000542638;ENST00000541407	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	5.86	5.86	0.93980	.	.	.	.	.	T	0.21718	0.0523	M	0.65975	2.015	0.49915	D	0.999832	B;B	0.26602	0.154;0.087	B;B	0.33799	0.16;0.17	T	0.02326	-1.1176	9	0.51188	T	0.08	-8.476	14.3503	0.66697	0.0703:0.0:0.9297:0.0	.	199;172	F6SH78;Q9NYP7	.;ELOV5_HUMAN	F	162;172;172;199	ENSP00000359956:L162F;ENSP00000306640:L172F;ENSP00000440728:L172F;ENSP00000438095:L199F	ENSP00000306640:L172F	L	-	1	0	ELOVL5	53246084	0.999000	0.42202	0.992000	0.48379	0.916000	0.54674	2.264000	0.43302	2.787000	0.95880	0.650000	0.86243	CTT	ELOVL5	-	pfam_GNS1_SUR4	ENSG00000012660		0.413	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL5	HGNC	protein_coding	OTTHUMT00000043566.1	-	0.00	109	0	G	NM_021814		53138125	-1	tier1	-	no_errors	ENST00000541407	ensembl	human	known	74_37	missense	27.78	78	30	SNP	0.902	A
EMID1	129080	genome.wustl.edu	37	22	29650196	29650196	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr22:29650196A>G	ENST00000334018.6	+	14	1312	c.1124A>G	c.(1123-1125)gAg>gGg	p.E375G	EMID1_ENST00000404820.3_Intron|EMID1_ENST00000404755.3_Missense_Mutation_p.E354G	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	373						collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						CCACAGGGGGAGGGGTTGCAC	0.577																																																	0													98.0	102.0	101.0					22																	29650196		2203	4300	6503	SO:0001583	missense	0			AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"""EMI domain containing"""	18036	protein-coding gene	gene with protein product	"""emilin and multimerin-domain containing protein 1"", ""putative emu1"""	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000334018.6:c.1124A>G	22.37:g.29650196A>G	ENSP00000335481:p.Glu375Gly		B0QYK6|Q6ICG1|Q86SS7	Missense_Mutation	SNP	pfam_Collagen,pfam_EMI_domain,pfscan_EMI_domain	p.E375G	ENST00000334018.6	37	c.1124	CCDS33630.1	22	.	.	.	.	.	.	.	.	.	.	A	17.80	3.477893	0.63849	.	.	ENSG00000186998	ENST00000334018;ENST00000404755	D;D	0.90900	-2.75;-2.59	4.93	4.93	0.64822	.	0.281537	0.25827	N	0.028041	D	0.90079	0.6901	M	0.62088	1.915	0.80722	D	1	B;B;B	0.24317	0.05;0.101;0.083	B;B;B	0.36567	0.069;0.228;0.146	D	0.86941	0.2079	10	0.31617	T	0.26	.	12.591	0.56443	1.0:0.0:0.0:0.0	.	354;373;375	B0QYK4;Q96A84;Q96A84-3	.;EMID1_HUMAN;.	G	375;354	ENSP00000335481:E375G;ENSP00000385414:E354G	ENSP00000335481:E375G	E	+	2	0	EMID1	27980196	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.262000	0.89862	2.075000	0.62263	0.459000	0.35465	GAG	EMID1	-	NULL	ENSG00000186998		0.577	EMID1-003	KNOWN	basic|CCDS	protein_coding	EMID1	HGNC	protein_coding	OTTHUMT00000321076.1		0.00	74	0	A	NM_133455		29650196	+1			no_errors	ENST00000334018	ensembl	human	known	74_37	missense	7.14	65	5	SNP	1.000	G
ENOX1	55068	genome.wustl.edu	37	13	43900600	43900600	+	Silent	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr13:43900600C>T	ENST00000261488.6	-	10	1675	c.1098G>A	c.(1096-1098)tcG>tcA	p.S366S	ENOX1_ENST00000540032.1_Silent_p.S179S|ENOX1_ENST00000412891.1_Silent_p.S366S	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	366					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCTGGGCTTTCGAGAAATGGT	0.418																																																	0													140.0	127.0	131.0					13																	43900600		2203	4300	6503	SO:0001819	synonymous_variant	0			EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.1098G>A	13.37:g.43900600C>T			A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S366	ENST00000261488.6	37	c.1098	CCDS9389.1	13																																																																																			ENOX1	-	NULL	ENSG00000120658		0.418	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOX1	HGNC	protein_coding	OTTHUMT00000044717.2	-	0.00	118	0	C	NM_017993		43900600	-1	tier1	-	no_errors	ENST00000261488	ensembl	human	known	74_37	silent	15.70	102	19	SNP	1.000	T
CBFA2T3	863	genome.wustl.edu	37	16	89017500	89017500	+	Intron	SNP	C	C	T	rs201099523		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr16:89017500C>T	ENST00000268679.4	-	1	548				RP11-830F9.6_ENST00000378347.2_Missense_Mutation_p.P325L|CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000360302.2_Intron|CBFA2T3_ENST00000436887.2_Intron	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3						cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GGACCGGCACCGCCACAGAGG	0.637			T	RUNX1	AML																																			Dom	yes		16	16q24	863	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""		L	0																																										SO:0001627	intron_variant	0			AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.151+25564G>A	16.37:g.89017500C>T			D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	NULL	p.P325L	ENST00000268679.4	37	c.974	CCDS10972.1	16	.	.	.	.	.	.	.	.	.	.	-	7.194	0.592105	0.13812	.	.	ENSG00000205018	ENST00000378347	.	.	.	.	.	.	.	.	.	.	.	T	0.59636	0.2208	.	.	.	0.46478	D	0.999062	.	.	.	.	.	.	T	0.58014	-0.7711	4	0.87932	D	0	.	5.844	0.18652	0.0:0.9991:0.0:9.0E-4	.	.	.	.	L	325	.	ENSP00000367598:P325L	P	+	2	0	AC092384.1	87545001	0.748000	0.28294	0.040000	0.18447	0.040000	0.13550	0.815000	0.27253	0.064000	0.16427	0.064000	0.15345	CCG	RP11-830F9.6	-	NULL	ENSG00000205018		0.637	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000205018	Clone_based_vega_gene	protein_coding	OTTHUMT00000269545.2	-	0.00	191	0	C	NM_005187		89017500	+1	tier1	rs201099523	no_errors	ENST00000378347	ensembl	human	putative	74_37	missense	83.16	33	163	SNP	0.729	T
AC011718.2	0	genome.wustl.edu	37	22	20640840	20640840	+	lincRNA	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr22:20640840G>A	ENST00000577456.1	-	0	720																											CCTGGGCGGCGTCCTCGCTGG	0.726																																																	0																																												0																															22.37:g.20640840G>A				RNA	SNP	-	NULL	ENST00000577456.1	37	NULL		22																																																																																			AC011718.2	-	-	ENSG00000223579		0.726	AC011718.2-004	KNOWN	basic	lincRNA	ENSG00000223579	Clone_based_vega_gene	lincRNA	OTTHUMT00000444810.1		0.00	185	0	G			20640840	-1			no_errors	ENST00000577456	ensembl	human	known	74_37	rna	9.03	141	14	SNP	0.052	A
RP11-597D13.7	0	genome.wustl.edu	37	4	159198915	159198915	+	RNA	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr4:159198915G>A	ENST00000512016.1	+	0	2277																											TGGCCATGTCGGAGGTGACCT	0.592																																																	0																																												0																															4.37:g.159198915G>A				RNA	SNP	-	NULL	ENST00000512016.1	37	NULL		4																																																																																			RP11-597D13.7	-	-	ENSG00000251429		0.592	RP11-597D13.7-002	KNOWN	basic	processed_transcript	ENSG00000251429	Clone_based_vega_gene	pseudogene	OTTHUMT00000365621.1	-	0.00	31	0	G			159198915	+1	tier1	-	no_errors	ENST00000512016	ensembl	human	known	74_37	rna	44.44	15	12	SNP	0.951	A
LOC100420587	100420587	genome.wustl.edu	37	19	29213649	29213649	+	lincRNA	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:29213649C>T	ENST00000592347.1	-	0	469																											CAGCAAGCTGCACCACTGCCT	0.448																																																	0																																												0																															19.37:g.29213649C>T				RNA	SNP	-	NULL	ENST00000592347.1	37	NULL		19																																																																																			AC005307.3	-	-	ENSG00000267243		0.448	AC005307.3-001	KNOWN	basic	lincRNA	ENSG00000267243	Clone_based_vega_gene	lincRNA	OTTHUMT00000453069.1	-	0.00	23	0	C			29213649	-1	tier1	-	no_errors	ENST00000590072	ensembl	human	known	74_37	rna	62.96	10	17	SNP	0.715	T
EPB41L3	23136	genome.wustl.edu	37	18	5478309	5478309	+	Silent	SNP	G	G	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr18:5478309G>T	ENST00000341928.2	-	3	652	c.312C>A	c.(310-312)gtC>gtA	p.V104V	EPB41L3_ENST00000400111.3_Silent_p.V104V|EPB41L3_ENST00000342933.3_Silent_p.V104V|EPB41L3_ENST00000540638.2_Silent_p.V104V|EPB41L3_ENST00000544123.1_Silent_p.V104V|RP11-286N3.1_ENST00000577527.1_RNA	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	104					apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TAGGCTTTTTGACAATCTTTA	0.398																																																	0													179.0	162.0	168.0					18																	5478309		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.312C>A	18.37:g.5478309G>T			B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.V104	ENST00000341928.2	37	c.312	CCDS11838.1	18																																																																																			EPB41L3	-	pirsf_Band_41_protein	ENSG00000082397		0.398	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	-	0.00	90	0	G	NM_012307		5478309	-1	tier1	-	no_errors	ENST00000341928	ensembl	human	known	74_37	silent	16.30	77	15	SNP	0.998	T
ERBB2	2064	genome.wustl.edu	37	17	37879610	37879610	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr17:37879610T>A	ENST00000269571.5	+	17	2144	c.1985T>A	c.(1984-1986)cTg>cAg	p.L662Q	ERBB2_ENST00000584450.1_Missense_Mutation_p.L662Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.L647Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.L632Q|ERBB2_ENST00000445658.2_Missense_Mutation_p.L386Q|ERBB2_ENST00000406381.2_Missense_Mutation_p.L632Q|ERBB2_ENST00000540147.1_Missense_Mutation_p.L632Q			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	662					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GTTGGCATTCTGCTGGTCGTG	0.607		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	0													127.0	114.0	119.0					17																	37879610		2203	4300	6503	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.1985T>A	17.37:g.37879610T>A	ENSP00000269571:p.Leu662Gln		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L662Q	ENST00000269571.5	37	c.1985	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	T	13.46	2.242719	0.39598	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.79653	-1.28;-1.28;-1.29;-1.28;-1.28	4.97	4.97	0.65823	Cytochrome c1, transmembrane anchor, C-terminal (1);	.	.	.	.	D	0.88969	0.6582	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.71414	0.957;0.954;0.973	D	0.90038	0.4140	9	0.87932	D	0	.	9.7218	0.40308	0.0:0.0821:0.0:0.9179	.	386;647;662	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	Q	632;647;386;662;632	ENSP00000385185:L632Q;ENSP00000446466:L647Q;ENSP00000404047:L386Q;ENSP00000269571:L662Q;ENSP00000443562:L632Q	ENSP00000269571:L662Q	L	+	2	0	ERBB2	35133136	1.000000	0.71417	0.993000	0.49108	0.690000	0.40134	3.950000	0.56676	1.880000	0.54463	0.459000	0.35465	CTG	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	ENSG00000141736		0.607	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	-	0.00	79	0	T			37879610	+1	tier1	-	no_errors	ENST00000269571	ensembl	human	known	74_37	missense	25.19	1780	601	SNP	0.998	A
F3	2152	genome.wustl.edu	37	1	95005863	95005863	+	Silent	SNP	A	A	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:95005863A>T	ENST00000334047.7	-	2	325	c.162T>A	c.(160-162)atT>atA	p.I54I	F3_ENST00000480356.1_5'UTR|F3_ENST00000370207.4_Silent_p.I54I	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	54					activation of blood coagulation via clotting cascade (GO:0002543)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of plasma proteins involved in acute inflammatory response (GO:0002541)|blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)|protease binding (GO:0002020)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CCCACTCCAAAATTGTCTTGA	0.348																																					Melanoma(40;358 1339 15970 39161)												0													145.0	146.0	146.0					1																	95005863		2203	4300	6503	SO:0001819	synonymous_variant	0			BC011029	CCDS750.1, CCDS53345.1	1p22-p21	2012-10-02			ENSG00000117525	ENSG00000117525		"""CD molecules"""	3541	protein-coding gene	gene with protein product		134390					Standard	NM_001993		Approved	CD142	uc001dqr.3	P13726	OTTHUMG00000010716	ENST00000334047.7:c.162T>A	1.37:g.95005863A>T			D3DT47|Q6FHG2|Q86WH4	Silent	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Tissue_fac/coagulation_fac-3,prints_Tissue_factor	p.I54	ENST00000334047.7	37	c.162	CCDS750.1	1																																																																																			F3	-	superfamily_Fibronectin_type3,pirsf_Tissue_fac/coagulation_fac-3,prints_Tissue_factor	ENSG00000117525		0.348	F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F3	HGNC	protein_coding	OTTHUMT00000029593.1	-	0.00	111	0	A	NM_001993		95005863	-1	tier1	-	no_errors	ENST00000334047	ensembl	human	known	74_37	silent	34.88	56	30	SNP	0.990	T
FAM171A1	221061	genome.wustl.edu	37	10	15256431	15256431	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr10:15256431C>T	ENST00000378116.4	-	8	1162	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	386						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCGGGGGCCTCGGGGCGGCCG	0.602																																																	0													37.0	44.0	41.0					10																	15256431		2203	4300	6503	SO:0001583	missense	0			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1156G>A	10.37:g.15256431C>T	ENSP00000367356:p.Glu386Lys		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	pfam_Uncharacterised_FAM171	p.E386K	ENST00000378116.4	37	c.1156	CCDS31154.1	10	.	.	.	.	.	.	.	.	.	.	C	10.39	1.335655	0.24253	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.31510	1.49	4.96	4.06	0.47325	.	0.590539	0.17283	N	0.179940	T	0.20007	0.0481	N	0.25647	0.755	0.09310	N	1	P	0.36249	0.545	B	0.28784	0.094	T	0.10917	-1.0609	10	0.59425	D	0.04	-10.0929	11.9259	0.52819	0.0:0.9195:0.0:0.0805	.	386	Q5VUB5	F1711_HUMAN	K	386;387	ENSP00000367356:E386K	ENSP00000367356:E386K	E	-	1	0	FAM171A1	15296437	.	.	0.438000	0.26821	0.253000	0.25986	.	.	1.306000	0.44926	0.563000	0.77884	GAG	FAM171A1	-	pfam_Uncharacterised_FAM171	ENSG00000148468		0.602	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1		0.00	50	0	C	XM_167709		15256431	-1			no_errors	ENST00000378116	ensembl	human	known	74_37	missense	10.42	42	5	SNP	0.073	T
FAM83B	222584	genome.wustl.edu	37	6	54806542	54806542	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:54806542C>T	ENST00000306858.7	+	5	2889	c.2773C>T	c.(2773-2775)Cga>Tga	p.R925*	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	925										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGAGCTTCTACGATCTCATTC	0.438																																																	0													112.0	98.0	103.0					6																	54806542		2203	4300	6503	SO:0001587	stop_gained	0			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2773C>T	6.37:g.54806542C>T	ENSP00000304078:p.Arg925*		Q2M1P3|Q96DQ2	Nonsense_Mutation	SNP	pfam_DUF1669	p.R925*	ENST00000306858.7	37	c.2773	CCDS34479.1	6	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860603	0.71834	.	.	ENSG00000168143	ENST00000306858	.	.	.	5.63	-1.57	0.08506	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.0893	17.5743	0.87944	0.3303:0.6697:0.0:0.0	.	.	.	.	X	925	.	ENSP00000304078:R925X	R	+	1	2	FAM83B	54914501	0.694000	0.27738	0.000000	0.03702	0.009000	0.06853	1.436000	0.34980	-0.153000	0.11137	-0.181000	0.13052	CGA	FAM83B	-	NULL	ENSG00000168143		0.438	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83B	HGNC	protein_coding	OTTHUMT00000040994.1	-	0.00	57	0	C	XM_294139		54806542	+1	tier1	-	no_errors	ENST00000306858	ensembl	human	known	74_37	nonsense	29.41	36	15	SNP	0.000	T
FAM90A27P	646508	genome.wustl.edu	37	19	53786091	53786091	+	RNA	SNP	C	C	T	rs112045296	byFrequency	TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:53786091C>T	ENST00000599085.1	+	0	67					NR_046365.1		A6NNH2	F90AR_HUMAN	family with sequence similarity 90, member A27, pseudogene								nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.T119K(1)									GAAGCTCCGACGCAGACATTT	0.562																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)																																										0					19q13.42	2014-03-18			ENSG00000189348	ENSG00000189348			43617	pseudogene	pseudogene							Standard	NR_046365		Approved		uc031rmv.1	A6NNH2	OTTHUMG00000182909		19.37:g.53786091C>T				RNA	SNP	-	NULL	ENST00000599085.1	37	NULL		19	.	.	.	.	.	.	.	.	.	.	C	4.330	0.060724	0.08339	.	.	ENSG00000189348	ENST00000338885	.	.	.	2.16	-0.135	0.13477	.	8.280160	0.01151	N	0.006409	T	0.37073	0.0990	.	.	.	0.24888	N	0.992181	.	.	.	.	.	.	T	0.30937	-0.9961	5	0.46703	T	0.11	.	6.5147	0.22242	0.5215:0.4785:0.0:0.0	.	.	.	.	M	119	.	ENSP00000341223:T119M	T	+	2	0	AC092070.1	58477903	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.591000	0.05753	0.038000	0.15604	-0.122000	0.15005	ACG	FAM90A27P	-	-	ENSG00000189348		0.562	FAM90A27P-002	KNOWN	basic	processed_transcript	FAM90A27P	HGNC	pseudogene	OTTHUMT00000464290.1	-	0.00	136	0	C	NR_046365		53786091	+1	tier1	-	no_errors	ENST00000599085	ensembl	human	known	74_37	rna	35.29	44	24	SNP	0.000	T
FAT1	2195	genome.wustl.edu	37	4	187521446	187521446	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr4:187521446G>T	ENST00000441802.2	-	22	11918	c.11709C>A	c.(11707-11709)agC>agA	p.S3903R	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3903	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGACCTGAATGCTCTGAACAG	0.478										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													45.0	44.0	44.0					4																	187521446		1994	4165	6159	SO:0001583	missense	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.11709C>A	4.37:g.187521446G>T	ENSP00000406229:p.Ser3903Arg			Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.S3903R	ENST00000441802.2	37	c.11709	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294047	0.81025	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.69561	-0.41	4.94	4.94	0.65067	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.79563	0.4467	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75246	-0.3385	10	0.27082	T	0.32	.	18.7161	0.91677	0.0:0.0:1.0:0.0	.	3903	Q14517	FAT1_HUMAN	R	3903;3905	ENSP00000406229:S3903R	ENSP00000260147:S3905R	S	-	3	2	FAT1	187758440	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.944000	0.70219	2.726000	0.93360	0.655000	0.94253	AGC	FAT1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000083857		0.478	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	-	0.00	42	0	G	NM_005245		187521446	-1	tier1	-	no_errors	ENST00000441802	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T
FBN3	84467	genome.wustl.edu	37	19	8156451	8156451	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:8156451G>A	ENST00000600128.1	-	48	6343	c.5929C>T	c.(5929-5931)Ccc>Tcc	p.P1977S	FBN3_ENST00000601739.1_Missense_Mutation_p.P1977S|FBN3_ENST00000270509.2_Missense_Mutation_p.P1977S			Q75N90	FBN3_HUMAN	fibrillin 3	1977	EGF-like 32; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.P1977S(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGAGGTTGGGCTCCTCTGAG	0.592																																																	1	Substitution - Missense(1)	lung(1)											108.0	94.0	98.0					19																	8156451		2203	4300	6503	SO:0001583	missense	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5929C>T	19.37:g.8156451G>A	ENSP00000470498:p.Pro1977Ser		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.P1977S	ENST00000600128.1	37	c.5929	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542663	0.45280	.	.	ENSG00000142449	ENST00000270509	D	0.91686	-2.89	4.45	4.45	0.53987	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.061993	0.64402	U	0.000003	D	0.93517	0.7931	L	0.33668	1.02	0.53005	D	0.999966	D	0.89917	1.0	D	0.91635	0.999	D	0.94069	0.7333	10	0.51188	T	0.08	.	17.0618	0.86549	0.0:0.0:1.0:0.0	.	1977	Q75N90	FBN3_HUMAN	S	1977	ENSP00000270509:P1977S	ENSP00000270509:P1977S	P	-	1	0	FBN3	8062451	1.000000	0.71417	0.751000	0.31187	0.119000	0.20118	4.963000	0.63694	2.015000	0.59207	0.655000	0.94253	CCC	FBN3	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom	ENSG00000142449		0.592	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2		0.00	71	0	G	NM_032447		8156451	-1			no_errors	ENST00000270509	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	A
FBXL2	25827	genome.wustl.edu	37	3	33406164	33406164	+	Silent	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr3:33406164G>A	ENST00000484457.1	+	5	334	c.243G>A	c.(241-243)agG>agA	p.R81R	FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538892.1_Silent_p.R81R|FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000507198.1_Silent_p.R81R|FBXL2_ENST00000542085.1_5'UTR	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GATTCCTGAGGAAGCTCAGCT	0.453																																																	0													214.0	190.0	198.0					3																	33406164		2203	4300	6503	SO:0001819	synonymous_variant	0			AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"""F-boxes / Leucine-rich repeats"""	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.243G>A	3.37:g.33406164G>A				Silent	SNP	pfam_Leu-rich_rpt,pfam_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.R81	ENST00000484457.1	37	c.243	CCDS2658.1	3																																																																																			FBXL2	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000153558		0.453	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL2	HGNC	protein_coding	OTTHUMT00000253245.2	-	0.00	89	0	G	NM_012157		33406164	+1	tier1	-	no_errors	ENST00000484457	ensembl	human	known	74_37	silent	49.44	45	44	SNP	1.000	A
FGF1	2246	genome.wustl.edu	37	5	141974989	141974989	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr5:141974989A>G	ENST00000359370.6	-	4	413	c.334T>C	c.(334-336)Tat>Cat	p.Y112H	AC005592.2_ENST00000414314.1_RNA|FGF1_ENST00000494579.1_5'UTR|FGF1_ENST00000407758.1_3'UTR|FGF1_ENST00000378046.1_Missense_Mutation_p.Y112H|FGF1_ENST00000360966.5_3'UTR|FGF1_ENST00000419524.2_Missense_Mutation_p.Y112H|FGF1_ENST00000337706.2_Missense_Mutation_p.Y112H|AC005592.2_ENST00000443800.1_RNA	NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2	NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic)	112					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|branch elongation involved in ureteric bud branching (GO:0060681)|cell differentiation (GO:0030154)|cellular response to heat (GO:0034605)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesonephric epithelium development (GO:0072163)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|S100 protein binding (GO:0044548)			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Amlexanox(DB01025)|Pazopanib(DB06589)|Pentosan Polysulfate(DB00686)	TTGGATATATAGGTGTTGTAA	0.438																																																	0													132.0	120.0	124.0					5																	141974989		2203	4300	6503	SO:0001583	missense	0			X59065	CCDS4275.1, CCDS4276.1	5q31.3-q33.2	2014-01-30			ENSG00000113578	ENSG00000113578		"""Endogenous ligands"""	3665	protein-coding gene	gene with protein product	"""heparin-binding growth factor 1"", ""endothelial cell growth factor, alpha"", ""endothelial cell growth factor, beta"""	131220		FGFA		1697263, 3523756	Standard	NM_033137		Approved	AFGF, ECGF, ECGFA, ECGFB, HBGF1, ECGF-beta, FGF-alpha, GLIO703	uc031slo.1	P05230	OTTHUMG00000059703	ENST00000359370.6:c.334T>C	5.37:g.141974989A>G	ENSP00000352329:p.Tyr112His		B2R5T0|D3DQF2|P07502|Q16588	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.Y112H	ENST00000359370.6	37	c.334	CCDS4275.1	5	.	.	.	.	.	.	.	.	.	.	A	20.5	3.994495	0.74703	.	.	ENSG00000113578	ENST00000359370;ENST00000378046;ENST00000337706;ENST00000441680;ENST00000419524	T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4	5.87	5.87	0.94306	.	0.080193	0.53938	D	0.000053	T	0.81702	0.4878	H	0.96547	3.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	D	0.87659	0.2533	10	0.87932	D	0	.	16.2718	0.82624	1.0:0.0:0.0:0.0	.	111;112	A8K147;P05230	.;FGF1_HUMAN	H	112	ENSP00000352329:Y112H;ENSP00000367285:Y112H;ENSP00000338548:Y112H;ENSP00000404742:Y112H;ENSP00000396195:Y112H	ENSP00000338548:Y112H	Y	-	1	0	FGF1	141955173	1.000000	0.71417	0.982000	0.44146	0.518000	0.34316	8.782000	0.91809	2.239000	0.73571	0.528000	0.53228	TAT	FGF1	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	ENSG00000113578		0.438	FGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF1	HGNC	protein_coding	OTTHUMT00000132735.2		0.00	76	0	A	NM_000800		141974989	-1			no_errors	ENST00000337706	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	G
FGF23	8074	genome.wustl.edu	37	12	4479524	4479524	+	Silent	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr12:4479524G>A	ENST00000237837.1	-	3	886	c.741C>T	c.(739-741)ttC>ttT	p.F247F		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	247					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.F247F(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TGAACTTGGCGAAGGGGCGGC	0.627																																																	1	Substitution - coding silent(1)	prostate(1)											60.0	67.0	64.0					12																	4479524		2203	4300	6503	SO:0001819	synonymous_variant	0			AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.741C>T	12.37:g.4479524G>A			Q4V758	Silent	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.F247	ENST00000237837.1	37	c.741	CCDS8526.1	12																																																																																			FGF23	-	NULL	ENSG00000118972		0.627	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF23	HGNC	protein_coding	OTTHUMT00000398936.1	-	0.00	64	0	G			4479524	-1	tier1	-	no_errors	ENST00000237837	ensembl	human	known	74_37	silent	47.83	24	22	SNP	0.008	A
FGF7	2252	genome.wustl.edu	37	15	49776663	49776663	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr15:49776663C>T	ENST00000267843.4	+	4	1158	c.547C>T	c.(547-549)Caa>Taa	p.Q183*	FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000561064.1_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	183					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|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 keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		GAAGAAAGAACAAAAAACAGC	0.378																																																	0													12.0	13.0	12.0					15																	49776663		1991	3804	5795	SO:0001587	stop_gained	0			M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"""Endogenous ligands"""	3685	protein-coding gene	gene with protein product	"""keratinocyte growth factor"""	148180	"""fibroblast growth factor 7 (keratinocyte growth factor)"""			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.547C>T	15.37:g.49776663C>T	ENSP00000267843:p.Gln183*		H0YNY5|Q6FGV5|Q96FG5	Nonsense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.Q183*	ENST00000267843.4	37	c.547	CCDS10131.1	15	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609810	0.87258	.	.	ENSG00000140285	ENST00000267843	.	.	.	5.62	5.62	0.85841	.	0.281713	0.40302	N	0.001127	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	15.9677	0.79987	0.0:0.8652:0.1348:0.0	.	.	.	.	X	183	.	ENSP00000267843:Q183X	Q	+	1	0	FGF7	47563955	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.841000	0.39240	2.628000	0.89032	0.650000	0.86243	CAA	FGF7	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	ENSG00000140285		0.378	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF7	HGNC	protein_coding	OTTHUMT00000254374.3	-	0.00	424	0	C	NM_002009		49776663	+1	tier1	-	no_errors	ENST00000267843	ensembl	human	known	74_37	nonsense	37.18	221	132	SNP	1.000	T
FGFRL1	53834	genome.wustl.edu	37	4	1019076	1019076	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr4:1019076T>A	ENST00000398484.2	+	8	2036	c.1456T>A	c.(1456-1458)Tct>Act	p.S486T	FGFRL1_ENST00000510644.1_Missense_Mutation_p.S486T|FGFRL1_ENST00000264748.6_Missense_Mutation_p.S486T|FGFRL1_ENST00000504138.1_Missense_Mutation_p.S486T|RP11-460I19.2_ENST00000503095.1_lincRNA			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	486	His-rich.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			acacacacactctcacacaca	0.607																																																	0													12.0	14.0	14.0					4																	1019076		2173	4279	6452	SO:0001583	missense	0				CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1456T>A	4.37:g.1019076T>A	ENSP00000381498:p.Ser486Thr		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S486T	ENST00000398484.2	37	c.1456	CCDS3344.1	4	.	.	.	.	.	.	.	.	.	.	T	0.310	-0.968479	0.02232	.	.	ENSG00000127418	ENST00000398484;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	1.78	0.515	0.17013	.	.	.	.	.	T	0.42899	0.1223	N	0.14661	0.345	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.31138	-0.9954	9	0.02654	T	1	.	4.5384	0.12045	0.0:0.0:0.3755:0.6245	.	486	Q8N441	FGRL1_HUMAN	T	486	ENSP00000381498:S486T;ENSP00000425025:S486T;ENSP00000423091:S486T;ENSP00000264748:S486T	ENSP00000264748:S486T	S	+	1	0	FGFRL1	1009076	0.829000	0.29322	0.929000	0.37066	0.972000	0.66771	0.130000	0.15850	0.140000	0.18849	0.460000	0.39030	TCT	FGFRL1	-	NULL	ENSG00000127418		0.607	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFRL1	HGNC	protein_coding	OTTHUMT00000239195.2		0.00	31	0	T	NM_021923		1019076	+1			no_errors	ENST00000264748	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.992	A
FLYWCH1	84256	genome.wustl.edu	37	16	2980438	2980438	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr16:2980438G>A	ENST00000253928.9	+	4	758	c.353G>A	c.(352-354)aGg>aAg	p.R118K	FLYWCH1_ENST00000399667.2_Missense_Mutation_p.R118K|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.R117K			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	118						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						GAGTTCCTGAGGACACCATTC	0.612																																																	0													12.0	14.0	13.0					16																	2980438		1926	4057	5983	SO:0001583	missense	0			AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.353G>A	16.37:g.2980438G>A	ENSP00000253928:p.Arg118Lys		D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	pfam_Znf_FLYWCH	p.R118K	ENST00000253928.9	37	c.353		16	.	.	.	.	.	.	.	.	.	.	G	4.194	0.034653	0.08101	.	.	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	3.42	-3.23	0.05109	Zinc finger, FLYWCH-type (1);	.	.	.	.	T	0.20129	0.0484	N	0.13098	0.295	0.20975	N	0.999814	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.003	T	0.33111	-0.9881	8	0.10902	T	0.67	.	9.0119	0.36146	0.6809:0.0:0.3191:0.0	.	118;117	Q4VC44;Q4VC44-2	FWCH1_HUMAN;.	K	118;118;117	.	ENSP00000253928:R118K	R	+	2	0	FLYWCH1	2920439	0.168000	0.22989	0.964000	0.40570	0.846000	0.48090	-0.991000	0.03728	-0.734000	0.04843	-0.794000	0.03295	AGG	FLYWCH1	-	pfam_Znf_FLYWCH	ENSG00000059122		0.612	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	FLYWCH1	HGNC	protein_coding	OTTHUMT00000436479.1	-	0.00	86	0	G	NM_032296		2980438	+1	tier1	-	no_errors	ENST00000399667	ensembl	human	known	74_37	missense	49.21	32	31	SNP	0.965	A
FNIP1	96459	genome.wustl.edu	37	5	131039772	131039772	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr5:131039772T>G	ENST00000510461.1	-	10	1197	c.1102A>C	c.(1102-1104)Agt>Cgt	p.S368R	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000511848.1_Missense_Mutation_p.S368R|FNIP1_ENST00000307968.7_Missense_Mutation_p.S340R|FNIP1_ENST00000307954.8_Missense_Mutation_p.S323R	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	368					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCTATTGCACTCTTTAATTTG	0.249																																																	0													34.0	38.0	36.0					5																	131039772		2202	4290	6492	SO:0001583	missense	0			DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1102A>C	5.37:g.131039772T>G	ENSP00000421985:p.Ser368Arg		D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	NULL	p.S368R	ENST00000510461.1	37	c.1102	CCDS34227.1	5	.	.	.	.	.	.	.	.	.	.	T	19.89	3.911189	0.72983	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461;ENST00000511848	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.75	5.75	0.90469	.	.	.	.	.	T	0.44912	0.1316	L	0.50333	1.59	0.58432	D	0.999998	D;D;D;D	0.69078	0.996;0.978;0.996;0.997	D;P;D;D	0.66847	0.919;0.732;0.919;0.947	T	0.24799	-1.0150	9	0.26408	T	0.33	-8.5138	11.188	0.48669	0.137:0.0:0.0:0.863	.	368;368;340;368	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40	.;.;.;FNIP1_HUMAN	R	340;323;128;368;368	ENSP00000309266:S340R;ENSP00000310453:S323R;ENSP00000421985:S368R;ENSP00000425619:S368R	ENSP00000310453:S323R	S	-	1	0	FNIP1	131067671	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.115000	0.71566	2.201000	0.70794	0.533000	0.62120	AGT	FNIP1	-	NULL	ENSG00000217128		0.249	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FNIP1	HGNC	protein_coding	OTTHUMT00000370077.1	-	0.00	99	0	T	NM_133372		131039772	-1	tier1	-	no_errors	ENST00000510461	ensembl	human	known	74_37	missense	34.69	32	17	SNP	1.000	G
GDF7	151449	genome.wustl.edu	37	2	20870855	20870855	+	Silent	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr2:20870855C>T	ENST00000272224.3	+	2	1599	c.1023C>T	c.(1021-1023)caC>caT	p.H341H		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	341					activin receptor signaling pathway (GO:0032924)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching morphogenesis of an epithelial tube (GO:0048754)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|forebrain morphogenesis (GO:0048853)|gland morphogenesis (GO:0022612)|growth (GO:0040007)|midbrain development (GO:0030901)|morphogenesis of an epithelial fold (GO:0060571)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of tendon cell differentiation (GO:2001051)|positive regulation of transcription, DNA-templated (GO:0045893)|reproductive structure development (GO:0048608)|roof plate formation (GO:0021509)|spinal cord association neuron differentiation (GO:0021527)	extracellular space (GO:0005615)				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					gccggggccacgggcgcaggg	0.746																																																	0													11.0	12.0	11.0					2																	20870855		2177	4264	6441	SO:0001819	synonymous_variant	0			AF522369	CCDS1701.1	2p24.1	2008-05-22			ENSG00000143869	ENSG00000143869			4222	protein-coding gene	gene with protein product		604651				10022976, 9808626	Standard	NM_182828		Approved	BMP12	uc002rdz.1	Q7Z4P5	OTTHUMG00000090781	ENST00000272224.3:c.1023C>T	2.37:g.20870855C>T				Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.H341	ENST00000272224.3	37	c.1023	CCDS1701.1	2																																																																																			GDF7	-	NULL	ENSG00000143869		0.746	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF7	HGNC	protein_coding	OTTHUMT00000207563.2	-	0.00	8	0	C	NM_182828		20870855	+1	tier1	-	no_errors	ENST00000272224	ensembl	human	known	74_37	silent	46.67	8	7	SNP	0.972	T
GGN	199720	genome.wustl.edu	37	19	38877401	38877401	+	Silent	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:38877401G>A	ENST00000334928.6	-	3	633	c.501C>T	c.(499-501)ccC>ccT	p.P167P	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron|SPRED3_ENST00000587013.1_5'Flank|SPRED3_ENST00000586301.1_5'Flank	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	167	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.			PP -> AH (in Ref. 1; AAP31500/AAP31501). {ECO:0000305}.	cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AAGTCTCCAGGGGCGGCGGAA	0.692																																																	0													14.0	18.0	16.0					19																	38877401		2178	4269	6447	SO:0001819	synonymous_variant	0			AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.501C>T	19.37:g.38877401G>A			Q7RTU6|Q86UU4|Q8NAA1	Silent	SNP	NULL	p.P167	ENST00000334928.6	37	c.501	CCDS12516.1	19																																																																																			GGN	-	NULL	ENSG00000179168		0.692	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGN	HGNC	protein_coding	OTTHUMT00000459205.1	-	0.00	16	0	G	NM_152657		38877401	-1	tier1	-	no_errors	ENST00000334928	ensembl	human	known	74_37	silent	42.86	8	6	SNP	0.002	A
GRIFIN	402635	genome.wustl.edu	37	7	2515352	2515352	+	RNA	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:2515352C>T	ENST00000417742.1	-	0	360							A4D1Z8	GRIFN_HUMAN	galectin-related inter-fiber protein								carbohydrate binding (GO:0030246)						Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;3.23e-14)		ACACCTGCTCCGGGCCCCAGC	0.667																																																	0													15.0	18.0	17.0					7																	2515352		1863	4080	5943			0					7p22.2	2013-01-30			ENSG00000236734	ENSG00000275572			4577	protein-coding gene	gene with protein product						9786891, 18087242	Standard	NM_001291784		Approved			A4D1Z8	OTTHUMG00000152042		7.37:g.2515352C>T				RNA	SNP	-	NULL	ENST00000417742.1	37	NULL		7																																																																																			GRIFIN	-	-	ENSG00000236734		0.667	GRIFIN-002	KNOWN	basic	processed_transcript	GRIFIN	HGNC	processed_transcript	OTTHUMT00000325020.1	-	0.00	172	0	C			2515352	-1	tier1	-	no_errors	ENST00000417742	ensembl	human	known	74_37	rna	46.15	132	114	SNP	0.028	T
GIMAP4	55303	genome.wustl.edu	37	7	150269569	150269569	+	Silent	SNP	C	C	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:150269569C>A	ENST00000255945.2	+	3	586	c.411C>A	c.(409-411)atC>atA	p.I137I	GIMAP4_ENST00000461940.1_Silent_p.I151I|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	137	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGAGAAGATCCTGAAAATGT	0.483																																																	0													80.0	77.0	78.0					7																	150269569		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.411C>A	7.37:g.150269569C>A				Silent	SNP	pfam_AIG1,superfamily_P-loop_NTPase	p.I137	ENST00000255945.2	37	c.411	CCDS5904.1	7																																																																																			GIMAP4	-	pfam_AIG1,superfamily_P-loop_NTPase	ENSG00000133574		0.483	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP4	HGNC	protein_coding	OTTHUMT00000348927.1	-	0.00	57	0	C	NM_018326		150269569	+1	tier1	-	no_errors	ENST00000255945	ensembl	human	known	74_37	silent	22.73	34	10	SNP	0.019	A
GRM4	2914	genome.wustl.edu	37	6	34003798	34003798	+	Missense_Mutation	SNP	C	C	T	rs374098086		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:34003798C>T	ENST00000538487.2	-	9	2532	c.2089G>A	c.(2089-2091)Gcc>Acc	p.A697T	GRM4_ENST00000609222.1_Missense_Mutation_p.A564T|GRM4_ENST00000535756.1_Missense_Mutation_p.A564T|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Missense_Mutation_p.A697T|GRM4_ENST00000455714.2_Missense_Mutation_p.A557T|GRM4_ENST00000374177.3_Missense_Mutation_p.A581T|GRM4_ENST00000544773.2_Missense_Mutation_p.A528T	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	697					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AGCTGTGAGGCGGGGCTGATG	0.617																																																	0													107.0	117.0	114.0					6																	34003798		2203	4300	6503	SO:0001583	missense	0			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2089G>A	6.37:g.34003798C>T	ENSP00000440556:p.Ala697Thr		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	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_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B	p.A697T	ENST00000538487.2	37	c.2089	CCDS4787.1	6	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016564	0.35606	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	4.48	4.48	0.54585	GPCR, family 3, C-terminal (2);	0.054522	0.64402	D	0.000001	T	0.67173	0.2865	N	0.05158	-0.105	0.51767	D	0.99993	B;B;D;P;B	0.61697	0.05;0.046;0.99;0.653;0.082	B;B;P;B;B	0.48704	0.015;0.007;0.587;0.081;0.036	T	0.70568	-0.4836	10	0.11485	T	0.65	.	13.9494	0.64106	0.1519:0.8481:0.0:0.0	.	650;528;557;697;564	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	T	697;581;389;564;528;697;557	ENSP00000363296:A697T;ENSP00000363292:A581T;ENSP00000445533:A389T;ENSP00000437925:A564T;ENSP00000437730:A528T;ENSP00000440556:A697T;ENSP00000398456:A557T	ENSP00000363292:A581T	A	-	1	0	GRM4	34111776	0.977000	0.34250	0.947000	0.38551	0.980000	0.70556	2.487000	0.45268	2.307000	0.77673	0.462000	0.41574	GCC	GRM4	-	pfam_GPCR_3_C,pfscan_GPCR_3_C	ENSG00000124493		0.617	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM4	HGNC	protein_coding	OTTHUMT00000040213.2	-	0.00	61	0	C			34003798	-1	tier1	-	no_errors	ENST00000374181	ensembl	human	known	74_37	missense	44.44	35	28	SNP	0.993	T
GRM1	2911	genome.wustl.edu	37	6	146480607	146480607	+	Missense_Mutation	SNP	G	G	A	rs553512718		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:146480607G>A	ENST00000282753.1	+	2	1059	c.824G>A	c.(823-825)cGc>cAc	p.R275H	GRM1_ENST00000355289.4_Missense_Mutation_p.R275H|GRM1_ENST00000507907.1_Missense_Mutation_p.R275H|GRM1_ENST00000392299.2_Missense_Mutation_p.R275H|GRM1_ENST00000361719.2_Missense_Mutation_p.R275H|GRM1_ENST00000492807.2_Missense_Mutation_p.R275H			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	275					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R275H(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CGACTCTTGCGCAAACTCCGA	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18937	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	large_intestine(1)											93.0	84.0	87.0					6																	146480607		2203	4300	6503	SO:0001583	missense	0			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.824G>A	6.37:g.146480607G>A	ENSP00000282753:p.Arg275His		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.R275H	ENST00000282753.1	37	c.824	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838921	0.91117	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.32	5.32	0.75619	Extracellular ligand-binding receptor (1);	0.053988	0.64402	D	0.000002	D	0.82398	0.5028	L	0.53671	1.685	0.53688	D	0.999976	P;D;P;P	0.64830	0.932;0.994;0.945;0.932	P;P;P;P	0.58780	0.537;0.845;0.667;0.537	D	0.84833	0.0803	10	0.72032	D	0.01	.	9.6698	0.40006	0.1545:0.0:0.8455:0.0	.	275;275;270;275	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	H	275	ENSP00000354896:R275H;ENSP00000376119:R275H;ENSP00000424095:R275H;ENSP00000282753:R275H;ENSP00000347437:R275H;ENSP00000425599:R275H	ENSP00000282753:R275H	R	+	2	0	GRM1	146522300	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.432000	0.73400	2.495000	0.84180	0.655000	0.94253	CGC	GRM1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt	ENSG00000152822		0.577	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1		0.00	31	0	G	NM_000838		146480607	+1			no_errors	ENST00000282753	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	A
GTF3C3	9330	genome.wustl.edu	37	2	197643772	197643772	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr2:197643772A>C	ENST00000263956.3	-	10	1327	c.1238T>G	c.(1237-1239)gTa>gGa	p.V413G		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	413				LV -> HL (in Ref. 6; AAH15995). {ECO:0000305}.	5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|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)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ATTCTGTTCTACTAGTGTTGT	0.383																																																	0													104.0	106.0	105.0					2																	197643772		2203	4300	6503	SO:0001583	missense	0			AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.1238T>G	2.37:g.197643772A>C	ENSP00000263956:p.Val413Gly		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V413G	ENST00000263956.3	37	c.1238	CCDS2316.1	2	.	.	.	.	.	.	.	.	.	.	A	16.13	3.034780	0.54896	.	.	ENSG00000119041	ENST00000263956;ENST00000448087	T	0.44083	0.93	4.66	4.66	0.58398	Tetratricopeptide-like helical (1);	0.059444	0.64402	D	0.000003	T	0.27063	0.0663	N	0.22421	0.69	0.80722	D	1	B	0.33379	0.41	B	0.23852	0.049	T	0.08046	-1.0741	10	0.30078	T	0.28	-24.4038	14.531	0.67926	1.0:0.0:0.0:0.0	.	413	Q9Y5Q9	TF3C3_HUMAN	G	413;98	ENSP00000263956:V413G	ENSP00000263956:V413G	V	-	2	0	GTF3C3	197352017	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.926000	0.75835	2.076000	0.62316	0.528000	0.53228	GTA	GTF3C3	-	NULL	ENSG00000119041		0.383	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C3	HGNC	protein_coding	OTTHUMT00000256104.1	-	0.00	97	0	A			197643772	-1	tier1	-	no_errors	ENST00000263956	ensembl	human	known	74_37	missense	26.27	87	31	SNP	1.000	C
GYPB	2994	genome.wustl.edu	37	4	145039887	145039887	+	Intron	SNP	G	G	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr4:145039887G>T	ENST00000283126.7	-	1	93				RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512789.1_Missense_Mutation_p.A19D|GYPA_ENST00000504786.1_Missense_Mutation_p.A52D|GYPA_ENST00000360771.4_Missense_Mutation_p.A84D|GYPA_ENST00000503627.1_Intron|GYPA_ENST00000512064.1_Intron|GYPA_ENST00000535709.1_Missense_Mutation_p.A58D|GYPA_ENST00000324022.10_Missense_Mutation_p.A51D			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					GAAATGATGGGCAAGTTGTAC	0.313																																																	0													107.0	107.0	107.0					4																	145039887		2203	4300	6503	SO:0001627	intron_variant	0				CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"""CD molecules"", ""Blood group antigens"""	4703	protein-coding gene	gene with protein product		111740	"""glycophorin B (includes Ss blood group)"", ""glycophorin B (Ss blood group)"""	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+21864C>A	4.37:g.145039887G>T			B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	pfam_Glycophorin,pirsf_Glycophorin	p.A84D	ENST00000283126.7	37	c.251		4	.	.	.	.	.	.	.	.	.	.	A	11.22	1.573144	0.28092	.	.	ENSG00000170180	ENST00000360771;ENST00000324022;ENST00000535709;ENST00000512789;ENST00000504786;ENST00000394119	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	3.82	-7.64	0.01286	.	5.805190	0.00508	N	0.000168	T	0.16171	0.0389	N	0.24115	0.695	0.09310	N	1	B;B;B;P;D	0.55385	0.0;0.0;0.001;0.545;0.971	B;B;B;B;P	0.52217	0.002;0.001;0.002;0.362;0.693	T	0.45101	-0.9284	10	0.17832	T	0.49	5.1433	9.2225	0.37386	0.3916:0.0:0.4702:0.1383	.	51;19;52;84;84	B8Q185;Q13030;E7EQF3;P02724;Q16336	.;.;.;GLPA_HUMAN;.	D	84;51;58;19;52;52	ENSP00000354003:A84D;ENSP00000324483:A51D;ENSP00000445398:A58D;ENSP00000425193:A19D;ENSP00000425549:A52D	ENSP00000324483:A51D	A	-	2	0	GYPA	145259337	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.533000	0.00062	-4.421000	0.00050	-2.330000	0.00249	GCC	GYPA	-	pfam_Glycophorin,pirsf_Glycophorin	ENSG00000170180		0.313	GYPB-201	KNOWN	basic|appris_principal	protein_coding	GYPA	HGNC	protein_coding			0.00	79	0	G	NM_002100		145039887	-1			no_errors	ENST00000360771	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.000	T
HAS1	3036	genome.wustl.edu	37	19	52222715	52222715	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:52222715C>T	ENST00000222115.1	-	2	480	c.446G>A	c.(445-447)cGc>cAc	p.R149H	HAS1_ENST00000540069.2_Missense_Mutation_p.R148H|HAS1_ENST00000601714.1_Missense_Mutation_p.R156H|HAS1_ENST00000594621.1_Missense_Mutation_p.R3H	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	149					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GAAGACCTCGCGGAACATGTC	0.731																																					NSCLC(132;636 2450 45807 47979)												0													11.0	10.0	10.0					19																	52222715		2083	4020	6103	SO:0001583	missense	0			U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.446G>A	19.37:g.52222715C>T	ENSP00000222115:p.Arg149His		Q14470|Q9NS49	Missense_Mutation	SNP	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.R156H	ENST00000222115.1	37	c.467	CCDS12838.1	19	.	.	.	.	.	.	.	.	.	.	.	12.73	2.026831	0.35797	.	.	ENSG00000105509	ENST00000540069;ENST00000222115;ENST00000376737;ENST00000376738	T;T	0.59772	0.24;0.24	3.83	2.75	0.32379	.	0.228496	0.32518	N	0.005993	T	0.36468	0.0968	N	0.25890	0.77	0.41466	D	0.988078	B;B;B	0.28820	0.224;0.144;0.144	B;B;B	0.18871	0.023;0.01;0.01	T	0.24440	-1.0160	10	0.34782	T	0.22	-5.4726	6.6845	0.23138	0.0:0.7674:0.0:0.2326	.	148;149;148	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	H	148;149;3;3	ENSP00000445021:R148H;ENSP00000222115:R149H	ENSP00000222115:R149H	R	-	2	0	HAS1	56914527	0.001000	0.12720	1.000000	0.80357	0.957000	0.61999	0.027000	0.13621	1.832000	0.53329	0.423000	0.28283	CGC	HAS1	-	NULL	ENSG00000105509		0.731	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	HAS1	HGNC	protein_coding	OTTHUMT00000466953.1	-	0.00	66	0	C	NM_001523		52222715	-1	tier1	-	no_errors	ENST00000601714	ensembl	human	known	74_37	missense	12.31	57	8	SNP	0.997	T
HDAC9	9734	genome.wustl.edu	37	7	18674345	18674345	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:18674345C>T	ENST00000432645.2	+	7	883	c.883C>T	c.(883-885)Ccc>Tcc	p.P295S	HDAC9_ENST00000456174.2_Missense_Mutation_p.P267S|HDAC9_ENST00000401921.1_Missense_Mutation_p.P254S|HDAC9_ENST00000406451.4_Missense_Mutation_p.P295S|HDAC9_ENST00000441542.2_Missense_Mutation_p.P298S|HDAC9_ENST00000524023.1_Missense_Mutation_p.P218S|HDAC9_ENST00000405010.3_Missense_Mutation_p.P295S|HDAC9_ENST00000428307.2_Missense_Mutation_p.P251S|HDAC9_ENST00000406072.1_Missense_Mutation_p.P282S|HDAC9_ENST00000417496.2_Missense_Mutation_p.P293S	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	295	Interaction with MAPK10. {ECO:0000250}.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTCGGTTTTGCCCCCTACCCC	0.418																																																	0													81.0	80.0	80.0					7																	18674345		1862	4097	5959	SO:0001583	missense	0			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.883C>T	7.37:g.18674345C>T	ENSP00000410337:p.Pro295Ser		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.P298S	ENST00000432645.2	37	c.892	CCDS47555.1	7	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373279	0.61624	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.59502	0.8;0.82;0.27;0.81;0.8;0.28;0.27;0.26;0.83;0.82	5.71	5.71	0.89125	.	0.236483	0.29594	N	0.011701	T	0.51346	0.1669	L	0.35723	1.085	0.58432	D	0.999994	B;B;B;B;B;B;B;P;B;B;B;B;B;P	0.52316	0.011;0.035;0.035;0.349;0.02;0.234;0.006;0.952;0.05;0.085;0.006;0.05;0.059;0.817	B;B;B;B;B;B;B;P;B;B;B;B;B;B	0.50570	0.005;0.009;0.015;0.092;0.005;0.143;0.005;0.644;0.049;0.022;0.005;0.049;0.021;0.23	T	0.40757	-0.9546	10	0.15066	T	0.55	-17.0501	8.9483	0.35773	0.1491:0.7774:0.0:0.0735	.	218;267;295;282;293;295;298;254;298;295;267;295;295;273	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	S	293;296;295;295;251;282;254;295;298;267;218;295	ENSP00000401669:P293S;ENSP00000384382:P295S;ENSP00000384657:P295S;ENSP00000395655:P251S;ENSP00000384017:P282S;ENSP00000383912:P254S;ENSP00000410337:P295S;ENSP00000408617:P298S;ENSP00000388568:P267S;ENSP00000430036:P218S	ENSP00000262069:P296S	P	+	1	0	HDAC9	18640870	1.000000	0.71417	0.987000	0.45799	0.526000	0.34562	3.469000	0.53093	2.706000	0.92434	0.650000	0.86243	CCC	HDAC9	-	pirsf_Histone_deAcase_II_euk	ENSG00000048052		0.418	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1	-	0.00	131	0	C			18674345	+1	tier1	-	no_errors	ENST00000441542	ensembl	human	known	74_37	missense	46.45	97	85	SNP	1.000	T
HERC2P4	100289574	genome.wustl.edu	37	16	32164283	32164283	+	IGR	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr16:32164283G>A								RP11-1166P10.6 (68177 upstream) : HERC2P4 (17021 downstream)																							ATGACCGAAGGACTGCTTGCA	0.423																																																	0																																										SO:0001628	intergenic_variant	0																															16.37:g.32164283G>A				RNA	SNP	-	NULL		37	NULL		16																																																																																			HERC2P4	-	-	ENSG00000230267	0	0.423					HERC2P4	HGNC			-	0.00	290	0	G			32164283	-1	tier1	-	no_errors	ENST00000563904	ensembl	human	known	74_37	rna	37.90	153	94	SNP	0.968	A
HIP1	3092	genome.wustl.edu	37	7	75183808	75183808	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:75183808C>T	ENST00000336926.6	-	20	2007	c.1981G>A	c.(1981-1983)Gtc>Atc	p.V661I	HIP1_ENST00000434438.2_Missense_Mutation_p.V661I	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	661					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ATGGATGTGACCGTGGAGAGG	0.527			T	PDGFRB	CMML																																			Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0													100.0	90.0	94.0					7																	75183808		2203	4300	6503	SO:0001583	missense	0			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.1981G>A	7.37:g.75183808C>T	ENSP00000336747:p.Val661Ile		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom	p.V661I	ENST00000336926.6	37	c.1981	CCDS34669.1	7	.	.	.	.	.	.	.	.	.	.	c	2.719	-0.267101	0.05754	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.10763	2.99;2.84	5.51	2.42	0.29668	.	0.728443	0.13338	N	0.395400	T	0.08935	0.0221	L	0.54323	1.7	0.09310	N	0.999992	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.46470	-0.9189	10	0.07990	T	0.79	-23.1044	5.6428	0.17572	0.0:0.3612:0.0:0.6388	.	661;661	E7ES17;O00291	.;HIP1_HUMAN	I	661	ENSP00000336747:V661I;ENSP00000410300:V661I	ENSP00000336747:V661I	V	-	1	0	HIP1	75021744	0.150000	0.22732	0.217000	0.23759	0.033000	0.12548	0.316000	0.19469	0.207000	0.20607	0.655000	0.94253	GTC	HIP1	-	NULL	ENSG00000127946		0.527	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1	HGNC	protein_coding	OTTHUMT00000342863.2	-	0.00	57	0	C	NM_005338		75183808	-1	tier1	-	no_errors	ENST00000336926	ensembl	human	known	74_37	missense	42.11	33	24	SNP	0.414	T
HIVEP1	3096	genome.wustl.edu	37	6	12126085	12126085	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:12126085G>A	ENST00000379388.2	+	4	6389	c.6057G>A	c.(6055-6057)tgG>tgA	p.W2019*	HIVEP1_ENST00000541134.1_5'UTR	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2019					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAAGCAAGTGGAAAAGCAGCT	0.333																																																	0													82.0	80.0	80.0					6																	12126085		1859	4104	5963	SO:0001587	stop_gained	0			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.6057G>A	6.37:g.12126085G>A	ENSP00000368698:p.Trp2019*		B2RTU3|Q14122|Q5MPB1|Q5VW60	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.W2019*	ENST00000379388.2	37	c.6057	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	G	37	6.496128	0.97612	.	.	ENSG00000095951	ENST00000379388	.	.	.	6.07	6.07	0.98685	.	0.000000	0.33854	N	0.004483	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.8138	20.6439	0.99570	0.0:0.0:1.0:0.0	.	.	.	.	X	2019	.	ENSP00000368698:W2019X	W	+	3	0	HIVEP1	12234071	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	TGG	HIVEP1	-	NULL	ENSG00000095951		0.333	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	-	0.00	29	0	G	NM_002114		12126085	+1	tier1	-	no_errors	ENST00000379388	ensembl	human	known	74_37	nonsense	50.00	18	18	SNP	1.000	A
HIST1H4K	8362	genome.wustl.edu	37	6	27799101	27799101	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:27799101C>G	ENST00000357549.2	-	1	204	c.205G>C	c.(205-207)Gac>Cac	p.D69H		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	69					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)			breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						GTCACGGCGTCCCGGATCACG	0.662																																																	0													17.0	19.0	18.0					6																	27799101		2198	4270	6468	SO:0001583	missense	0			X60483	CCDS4631.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197914	ENSG00000273542		"""Histones / Replication-dependent"""	4784	protein-coding gene	gene with protein product		602825	"""H4 histone family, member D"", ""histone 1, H4k"""	H4FD		9439656, 12408966	Standard	NM_003541		Approved	H4/d, H4F2iii, dJ160A22.1	uc003njr.3	P62805	OTTHUMG00000014488	ENST00000357549.2:c.205G>C	6.37:g.27799101C>G	ENSP00000350159:p.Asp69His		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.D69H	ENST00000357549.2	37	c.205	CCDS4631.1	6	.	.	.	.	.	.	.	.	.	.	.	26.5	4.741385	0.89573	.	.	ENSG00000197914	ENST00000357549	T	0.71461	-0.57	4.25	4.25	0.50352	.	0.000000	0.53938	U	0.000045	T	0.77391	0.4123	.	.	.	0.44871	D	0.997886	.	.	.	.	.	.	T	0.81684	-0.0821	7	0.87932	D	0	.	16.0265	0.80548	0.0:1.0:0.0:0.0	.	.	.	.	H	69	ENSP00000350159:D69H	ENSP00000350159:D69H	D	-	1	0	HIST1H4K	27907080	1.000000	0.71417	0.980000	0.43619	0.643000	0.38383	5.245000	0.65405	2.064000	0.61679	0.650000	0.86243	GAC	HIST1H4K	-	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	ENSG00000197914		0.662	HIST1H4K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4K	HGNC	protein_coding	OTTHUMT00000040156.1	-	0.00	36	0	C	NM_003541		27799101	-1	tier1	-	no_errors	ENST00000357549	ensembl	human	known	74_37	missense	34.15	27	14	SNP	1.000	G
HMX3	340784	genome.wustl.edu	37	10	124895957	124895957	+	Nonsense_Mutation	SNP	C	C	T	rs529563907		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr10:124895957C>T	ENST00000357878.5	+	1	480	c.391C>T	c.(391-393)Cga>Tga	p.R131*		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	131					brain development (GO:0007420)|cell differentiation (GO:0030154)|embryo implantation (GO:0007566)|inner ear morphogenesis (GO:0042472)|maternal process involved in female pregnancy (GO:0060135)|neuromuscular process controlling balance (GO:0050885)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CCACCTCCCGCGACCTGAAGG	0.711																																																	0													9.0	12.0	11.0					10																	124895957		1887	4078	5965	SO:0001587	stop_gained	0				CCDS41575.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188620	ENSG00000188620		"""Homeoboxes / ANTP class : NKL subclass"""	5019	protein-coding gene	gene with protein product		613380	"""homeo box (H6 family) 3"""				Standard	NM_001105574		Approved	NKX5-1	uc010quc.2	A6NHT5	OTTHUMG00000019199	ENST00000357878.5:c.391C>T	10.37:g.124895957C>T	ENSP00000350549:p.Arg131*		A8MU06	Nonsense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.R131*	ENST00000357878.5	37	c.391	CCDS41575.1	10	.	.	.	.	.	.	.	.	.	.	C	36	5.841583	0.97016	.	.	ENSG00000188620	ENST00000357878	.	.	.	4.18	1.94	0.25998	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7721	0.57427	0.4256:0.5743:0.0:0.0	.	.	.	.	X	131	.	ENSP00000350549:R131X	R	+	1	2	HMX3	124885947	0.128000	0.22383	0.999000	0.59377	0.966000	0.64601	0.452000	0.21795	0.714000	0.32081	0.460000	0.39030	CGA	HMX3	-	NULL	ENSG00000188620		0.711	HMX3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HMX3	HGNC	protein_coding	OTTHUMT00000050842.4	-	0.00	30	0	C	XM_291716		124895957	+1	tier1	-	no_errors	ENST00000357878	ensembl	human	known	74_37	nonsense	38.10	13	8	SNP	0.997	T
HOXB9	3219	genome.wustl.edu	37	17	46700497	46700497	+	Splice_Site	SNP	G	G	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr17:46700497G>T	ENST00000311177.5	-	2	725	c.518C>A	c.(517-519)aCc>aAc	p.T173N	HOXB7_ENST00000567101.2_Intron|HOXB9_ENST00000550387.1_Splice_Site_p.S93R	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	173				T -> A (in Ref. 5; CAA34294). {ECO:0000305}.	anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						GGAGGGGTTGGCTGAAAGAGA	0.557																																																	0													80.0	77.0	78.0					17																	46700497		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"""Homeoboxes / ANTP class : HOXL subclass"""	5120	protein-coding gene	gene with protein product		142964	"""homeo box B9"""	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.518-1C>A	17.37:g.46700497G>T			B2RDB7|Q9H1I1	Missense_Mutation	SNP	pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.T173N	ENST00000311177.5	37	c.518	CCDS11534.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.807|5.807	0.333177|0.333177	0.11013|0.11013	.|.	.|.	ENSG00000170689|ENSG00000170689	ENST00000550387|ENST00000311177	.|D	.|0.95622	.|-3.76	5.71|5.71	5.71|5.71	0.89125|0.89125	.|Homeodomain-related (1);Homeodomain-like (1);	.|0.356618	.|0.27901	.|N	.|0.017381	D|D	0.82356|0.82356	0.5019|0.5019	N|N	0.00605|0.00605	-1.335|-1.335	0.30686|0.30686	N|N	0.751789|0.751789	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.70938|0.70938	-0.4736|-0.4736	6|10	0.27082|0.02654	T|T	0.32|1	.|.	14.6881|14.6881	0.69065|0.69065	0.0:0.2651:0.7349:0.0|0.0:0.2651:0.7349:0.0	.|.	.|173	.|P17482	.|HXB9_HUMAN	R|N	93|173	.|ENSP00000309439:T173N	ENSP00000447530:S93R|ENSP00000309439:T173N	S|T	-|-	3|2	2|0	HOXB9|HOXB9	44055496|44055496	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.321000|2.321000	0.43805|0.43805	2.699000|2.699000	0.92147|0.92147	0.655000|0.655000	0.94253|0.94253	AGC|ACC	HOXB9	-	superfamily_Homeodomain-like,pirsf_Homeobox_Hox9	ENSG00000170689		0.557	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB9	HGNC	protein_coding	OTTHUMT00000358101.2	-	0.00	44	0	G		Missense_Mutation	46700497	-1	tier1	-	no_errors	ENST00000311177	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T
HOXD4	3233	genome.wustl.edu	37	2	177016482	177016482	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr2:177016482G>A	ENST00000306324.3	+	1	533	c.121G>A	c.(121-123)Gcg>Acg	p.A41T	HOXD3_ENST00000468418.3_5'UTR|MIR10B_ENST00000385011.1_RNA	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	41					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CGGCGGCGGCGCGCAGGGCGC	0.701																																																	0													20.0	23.0	22.0					2																	177016482		2181	4221	6402	SO:0001583	missense	0				CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"""Homeoboxes / ANTP class : HOXL subclass"""	5138	protein-coding gene	gene with protein product		142981	"""homeo box D4"""	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.121G>A	2.37:g.177016482G>A	ENSP00000302548:p.Ala41Thr		B2R9R3|Q96AU0	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.A41T	ENST00000306324.3	37	c.121	CCDS2269.1	2	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.365669	0.01235	.	.	ENSG00000170166	ENST00000306324	T	0.76448	-1.02	3.33	1.52	0.23074	.	2.985940	0.01711	N	0.027759	T	0.69151	0.3079	L	0.33137	0.985	0.09310	N	1	B	0.22346	0.068	B	0.12156	0.007	T	0.52852	-0.8520	10	0.39692	T	0.17	.	7.5613	0.27853	0.2239:0.0:0.7761:0.0	.	41	P09016	HXD4_HUMAN	T	41	ENSP00000302548:A41T	ENSP00000302548:A41T	A	+	1	0	HOXD4	176724728	1.000000	0.71417	0.001000	0.08648	0.165000	0.22458	1.046000	0.30354	0.409000	0.25649	-0.258000	0.10820	GCG	HOXD4	-	NULL	ENSG00000170166		0.701	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD4	HGNC	protein_coding	OTTHUMT00000255697.2	-	0.00	117	0	G			177016482	+1	tier1	-	no_errors	ENST00000306324	ensembl	human	known	74_37	missense	11.11	87	11	SNP	0.064	A
HS3ST5	222537	genome.wustl.edu	37	6	114378489	114378489	+	Missense_Mutation	SNP	G	G	A	rs374141405		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:114378489G>A	ENST00000312719.5	-	5	2161	c.973C>T	c.(973-975)Cgc>Tgc	p.R325C	HS3ST5_ENST00000411826.1_Missense_Mutation_p.R325C|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	325					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		AAGAATTTGCGCAATTTAGTA	0.408																																																	0								G	CYS/ARG	1,4405	4.2+/-10.8	0,1,2202	64.0	68.0	66.0		973	6.0	1.0	6		66	1,8597	1.2+/-3.3	0,1,4298	no	missense	HS3ST5	NM_153612.3	180	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	benign	325/347	114378489	2,13002	2203	4299	6502	SO:0001583	missense	0			AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.973C>T	6.37:g.114378489G>A	ENSP00000427888:p.Arg325Cys		A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.R325C	ENST00000312719.5	37	c.973	CCDS34517.1	6	.	.	.	.	.	.	.	.	.	.	G	15.06	2.722416	0.48728	2.27E-4	1.16E-4	ENSG00000249853	ENST00000312719;ENST00000411826	D;D	0.82803	-1.65;-1.65	6.02	6.02	0.97574	Sulfotransferase domain (1);	0.108901	0.64402	D	0.000004	D	0.83031	0.5166	M	0.63208	1.945	0.80722	D	1	D	0.69078	0.997	P	0.49252	0.604	T	0.81752	-0.0789	10	0.41790	T	0.15	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	325	Q8IZT8	HS3S5_HUMAN	C	325	ENSP00000427888:R325C;ENSP00000440332:R325C	ENSP00000427888:R325C	R	-	1	0	HS3ST5	114485182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.618000	0.83043	2.865000	0.98341	0.655000	0.94253	CGC	HS3ST5	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000249853		0.408	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST5	HGNC	protein_coding	OTTHUMT00000041911.2	-	0.00	41	0	G	NM_153612		114378489	-1	tier1	-	no_errors	ENST00000312719	ensembl	human	known	74_37	missense	60.00	8	12	SNP	1.000	A
HSPA12A	259217	genome.wustl.edu	37	10	118435975	118435975	+	Missense_Mutation	SNP	C	C	T	rs371358207		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr10:118435975C>T	ENST00000369209.3	-	11	1429	c.1325G>A	c.(1324-1326)cGg>cAg	p.R442Q		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	442						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TGGACTCATCCGCAGCATCCC	0.552																																																	0								C	GLN/ARG	0,4232		0,0,2116	127.0	128.0	128.0		1325	5.7	1.0	10		128	1,8507		0,1,4253	no	missense	HSPA12A	NM_025015.2	43	0,1,6369	TT,TC,CC		0.0118,0.0,0.0078	probably-damaging	442/676	118435975	1,12739	2116	4254	6370	SO:0001583	missense	0			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1325G>A	10.37:g.118435975C>T	ENSP00000358211:p.Arg442Gln			Missense_Mutation	SNP	NULL	p.R442Q	ENST00000369209.3	37	c.1325	CCDS41569.1	10	.	.	.	.	.	.	.	.	.	.	C	36	5.853778	0.97030	0.0	1.18E-4	ENSG00000165868	ENST00000369209	T	0.29917	1.55	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.59224	0.2178	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58405	-0.7642	10	0.56958	D	0.05	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	442	O43301	HS12A_HUMAN	Q	442	ENSP00000358211:R442Q	ENSP00000358211:R442Q	R	-	2	0	HSPA12A	118425965	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.824000	0.97209	0.655000	0.94253	CGG	HSPA12A	-	NULL	ENSG00000165868		0.552	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA12A	HGNC	protein_coding	OTTHUMT00000050530.1	-	0.00	59	0	C	NM_025015		118435975	-1	tier1	-	no_errors	ENST00000369209	ensembl	human	known	74_37	missense	27.78	26	10	SNP	1.000	T
IGSF11	152404	genome.wustl.edu	37	3	118621687	118621687	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr3:118621687G>T	ENST00000393775.2	-	7	1281	c.976C>A	c.(976-978)Cca>Aca	p.P326T	IGSF11_ENST00000489689.1_Missense_Mutation_p.P302T|IGSF11_ENST00000354673.2_Missense_Mutation_p.P325T|IGSF11_ENST00000441144.2_Missense_Mutation_p.P301T|IGSF11_ENST00000491903.1_Missense_Mutation_p.P298T|IGSF11_ENST00000425327.2_Missense_Mutation_p.P325T	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	326					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAACTTTTGGATTGTTGCTC	0.448																																																	0													139.0	145.0	143.0					3																	118621687		2203	4300	6503	SO:0001583	missense	0			AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.976C>A	3.37:g.118621687G>T	ENSP00000377370:p.Pro326Thr		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P326T	ENST00000393775.2	37	c.976	CCDS46891.1	3	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044412	0.36085	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	T;T;D;T;D;D	0.86627	-1.16;-1.38;-2.13;-1.16;-2.15;-2.01	5.28	3.44	0.39384	.	0.201680	0.49305	N	0.000141	T	0.76608	0.4011	N	0.24115	0.695	0.54753	D	0.999989	B;B;B;B;B	0.22800	0.022;0.075;0.031;0.045;0.045	B;B;B;B;B	0.20184	0.005;0.028;0.028;0.012;0.012	T	0.69636	-0.5092	10	0.49607	T	0.09	.	7.5214	0.27631	0.0764:0.0:0.6314:0.2923	.	298;301;325;302;326	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	T	325;326;302;325;301;298	ENSP00000406092:P325T;ENSP00000377370:P326T;ENSP00000420486:P302T;ENSP00000346700:P325T;ENSP00000401240:P301T;ENSP00000417413:P298T	ENSP00000346700:P325T	P	-	1	0	IGSF11	120104377	1.000000	0.71417	0.984000	0.44739	0.998000	0.95712	3.798000	0.55522	0.761000	0.33130	0.655000	0.94253	CCA	IGSF11	-	NULL	ENSG00000144847		0.448	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF11	HGNC	protein_coding	OTTHUMT00000355075.2	-	0.00	56	0	G			118621687	-1	tier1	-	no_errors	ENST00000393775	ensembl	human	known	74_37	missense	13.33	39	6	SNP	1.000	T
INHBB	3625	genome.wustl.edu	37	2	121106818	121106818	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr2:121106818C>T	ENST00000295228.3	+	2	638	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	198					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)				GCGGAAGGTGCGGGTCAAAGT	0.602																																																	0													79.0	76.0	77.0					2																	121106818		2203	4300	6503	SO:0001583	missense	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.592C>T	2.37:g.121106818C>T	ENSP00000295228:p.Arg198Trp		Q53T31|Q8N1D3	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu	p.R198W	ENST00000295228.3	37	c.592	CCDS2132.1	2	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385211	0.61956	.	.	ENSG00000163083	ENST00000295228	T	0.70399	-0.48	4.94	4.94	0.65067	Transforming growth factor-beta, N-terminal (1);	0.087418	0.45867	D	0.000321	T	0.77572	0.4150	L	0.51422	1.61	0.39241	D	0.963859	D	0.76494	0.999	D	0.66979	0.948	T	0.79524	-0.1768	10	0.66056	D	0.02	-6.5689	10.9786	0.47480	0.2877:0.7123:0.0:0.0	.	198	P09529	INHBB_HUMAN	W	198	ENSP00000295228:R198W	ENSP00000295228:R198W	R	+	1	2	INHBB	120823288	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.378000	0.66190	2.728000	0.93425	0.655000	0.94253	CGG	INHBB	-	pfam_TGF-b_N,prints_Inhibin_betaB	ENSG00000163083		0.602	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBB	HGNC	protein_coding	OTTHUMT00000254234.1	-	0.00	53	0	C			121106818	+1	tier1	-	no_errors	ENST00000295228	ensembl	human	known	74_37	missense	50.00	27	27	SNP	1.000	T
INPPL1	3636	genome.wustl.edu	37	11	71942174	71942174	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:71942174G>C	ENST00000298229.2	+	12	1642	c.1438G>C	c.(1438-1440)Gag>Cag	p.E480Q	INPPL1_ENST00000538751.1_Missense_Mutation_p.E238Q|INPPL1_ENST00000541756.1_Missense_Mutation_p.E238Q	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	480					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GGGCGACCGCGAGTGGCTGGA	0.607																																																	0													146.0	154.0	151.0					11																	71942174		2200	4293	6493	SO:0001583	missense	0			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1438G>C	11.37:g.71942174G>C	ENSP00000298229:p.Glu480Gln		B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2	p.E480Q	ENST00000298229.2	37	c.1438	CCDS8213.1	11	.	.	.	.	.	.	.	.	.	.	g	28.6	4.937103	0.92458	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	T;T;T	0.79454	-1.27;-1.27;-1.27	5.81	5.81	0.92471	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.87200	0.6118	M	0.68593	2.085	0.54753	D	0.999984	D	0.89917	1.0	D	0.87578	0.998	D	0.85275	0.1058	10	0.38643	T	0.18	.	18.6606	0.91470	0.0:0.0:1.0:0.0	.	480	O15357	SHIP2_HUMAN	Q	480;238;238	ENSP00000298229:E480Q;ENSP00000446360:E238Q;ENSP00000444619:E238Q	ENSP00000298229:E480Q	E	+	1	0	INPPL1	71619822	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	9.448000	0.97600	2.746000	0.94184	0.655000	0.94253	GAG	INPPL1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000165458		0.607	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPPL1	HGNC	protein_coding	OTTHUMT00000396789.1	-	0.00	18	0	G	NM_001567		71942174	+1	tier1	-	no_errors	ENST00000298229	ensembl	human	known	74_37	missense	43.75	9	7	SNP	1.000	C
IRX1	79192	genome.wustl.edu	37	5	3599749	3599749	+	Silent	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr5:3599749C>T	ENST00000302006.3	+	2	739	c.687C>T	c.(685-687)gaC>gaT	p.D229D	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	229					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AAAGCATCGACATTGACAAGA	0.642																																																	0													66.0	60.0	62.0					5																	3599749		2203	4300	6503	SO:0001819	synonymous_variant	0			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.687C>T	5.37:g.3599749C>T			Q7Z2F8|Q8N312	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.D229	ENST00000302006.3	37	c.687	CCDS34132.1	5																																																																																			IRX1	-	NULL	ENSG00000170549		0.642	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX1	HGNC	protein_coding	OTTHUMT00000365546.1	-	0.00	29	0	C	NM_024337		3599749	+1	tier1	-	no_errors	ENST00000302006	ensembl	human	known	74_37	silent	36.36	14	8	SNP	0.994	T
JAK3	3718	genome.wustl.edu	37	19	17942130	17942130	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:17942130T>A	ENST00000527670.1	-	20	2914	c.2885A>T	c.(2884-2886)cAc>cTc	p.H962L	JAK3_ENST00000534444.1_Missense_Mutation_p.H962L|JAK3_ENST00000458235.1_Missense_Mutation_p.H962L			P52333	JAK3_HUMAN	Janus kinase 3	962	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GATCTTGACGTGTGCCTCGCT	0.657		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													135.0	118.0	124.0					19																	17942130		2203	4300	6503	SO:0001583	missense	0			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2885A>T	19.37:g.17942130T>A	ENSP00000432511:p.His962Leu		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H962L	ENST00000527670.1	37	c.2885	CCDS12366.1	19	.	.	.	.	.	.	.	.	.	.	T	8.667	0.901838	0.17760	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	T;T;D	0.88741	0.08;0.08;-2.42	3.28	3.28	0.37604	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.241243	0.30142	N	0.010320	T	0.76343	0.3974	N	0.20401	0.57	0.51012	D	0.999909	B;B	0.16603	0.018;0.014	B;B	0.17722	0.018;0.019	T	0.67074	-0.5762	10	0.02654	T	1	-27.4738	10.2413	0.43314	0.0:0.0:0.0:1.0	.	962;962	P52333-2;P52333	.;JAK3_HUMAN	L	962	ENSP00000391676:H962L;ENSP00000432511:H962L;ENSP00000436421:H962L	ENSP00000391676:H962L	H	-	2	0	JAK3	17803130	0.224000	0.23674	0.997000	0.53966	0.931000	0.56810	0.784000	0.26816	1.469000	0.48083	0.379000	0.24179	CAC	JAK3	-	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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom	ENSG00000105639		0.657	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	HGNC	protein_coding	OTTHUMT00000385549.1	-	0.00	133	0	T	NM_000215		17942130	-1	tier1	-	no_errors	ENST00000458235	ensembl	human	known	74_37	missense	32.10	55	26	SNP	0.996	A
JARID2	3720	genome.wustl.edu	37	6	15487651	15487651	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:15487651C>T	ENST00000341776.2	+	6	1028	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	JARID2_ENST00000397311.3_Missense_Mutation_p.R90W|JARID2_ENST00000541660.1_Missense_Mutation_p.R224W	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	262					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGACAGCCGCCGGGAGCAGGC	0.632																																																	0													54.0	53.0	53.0					6																	15487651		2203	4300	6503	SO:0001583	missense	0			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.784C>T	6.37:g.15487651C>T	ENSP00000341280:p.Arg262Trp		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.R262W	ENST00000341776.2	37	c.784	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093513	0.76756	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	T;T;T	0.36157	1.27;1.27;1.27	5.17	4.03	0.46877	.	0.242262	0.47093	D	0.000242	T	0.25044	0.0608	N	0.19112	0.55	0.31933	N	0.611953	D;D;D	0.71674	0.998;0.998;0.991	P;P;P	0.59424	0.857;0.784;0.639	T	0.13710	-1.0499	10	0.62326	D	0.03	-17.8567	12.1065	0.53816	0.8375:0.1624:0.0:0.0	.	224;126;262	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	W	126;262;90;224	ENSP00000341280:R262W;ENSP00000380478:R90W;ENSP00000444623:R224W	ENSP00000341280:R262W	R	+	1	2	JARID2	15595630	1.000000	0.71417	0.900000	0.35374	0.876000	0.50452	3.858000	0.55979	0.936000	0.37367	0.561000	0.74099	CGG	JARID2	-	NULL	ENSG00000008083		0.632	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1	-	0.00	118	0	C	NM_004973		15487651	+1	tier1	-	no_errors	ENST00000341776	ensembl	human	known	74_37	missense	45.63	56	47	SNP	0.993	T
JPH1	56704	genome.wustl.edu	37	8	75227448	75227448	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr8:75227448C>A	ENST00000342232.4	-	2	827	c.787G>T	c.(787-789)Gat>Tat	p.D263Y		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	263					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|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)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			AAATCACAATCTACATCGCCA	0.572																																																	0													95.0	89.0	91.0					8																	75227448		2203	4300	6503	SO:0001583	missense	0			AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.787G>T	8.37:g.75227448C>A	ENSP00000344488:p.Asp263Tyr		B2RTZ0	Missense_Mutation	SNP	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.D263Y	ENST00000342232.4	37	c.787	CCDS6217.1	8	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432336	0.62844	.	.	ENSG00000104369	ENST00000342232	T	0.58210	0.35	4.89	4.89	0.63831	.	0.102236	0.64402	D	0.000003	T	0.64702	0.2622	L	0.40543	1.245	0.54753	D	0.999987	D	0.89917	1.0	D	0.67231	0.95	T	0.66834	-0.5823	10	0.59425	D	0.04	.	18.2573	0.90023	0.0:1.0:0.0:0.0	.	263	Q9HDC5	JPH1_HUMAN	Y	263	ENSP00000344488:D263Y	ENSP00000344488:D263Y	D	-	1	0	JPH1	75390003	0.993000	0.37304	0.565000	0.28409	0.865000	0.49528	3.799000	0.55529	2.519000	0.84933	0.655000	0.94253	GAT	JPH1	-	pirsf_Junctophilin	ENSG00000104369		0.572	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH1	HGNC	protein_coding	OTTHUMT00000379102.1	-	0.00	75	0	C			75227448	-1	tier1	-	no_errors	ENST00000342232	ensembl	human	known	74_37	missense	12.50	49	7	SNP	0.993	A
JPH3	57338	genome.wustl.edu	37	16	87636607	87636607	+	5'UTR	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr16:87636607C>T	ENST00000284262.2	+	0	97				RP11-482M8.3_ENST00000602388.1_RNA	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3						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)		cgcggccgcccgcgcccgAGA	0.726																																																	0																																										SO:0001623	5_prime_UTR_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.-146C>T	16.37:g.87636607C>T			D3DUN2|Q8N471|Q9HDC3|Q9HDC4	RNA	SNP	-	NULL	ENST00000284262.2	37	NULL	CCDS10962.1	16																																																																																			JPH3	-	-	ENSG00000154118		0.726	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH3	HGNC	protein_coding	OTTHUMT00000269108.2	-	0.00	28	0	C			87636607	+1	tier1	-	no_errors	ENST00000301008	ensembl	human	known	74_37	rna	23.08	20	6	SNP	0.943	T
KCNK1	3775	genome.wustl.edu	37	1	233802494	233802494	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:233802494T>A	ENST00000366621.3	+	2	677	c.509T>A	c.(508-510)aTc>aAc	p.I170N	KCNK1_ENST00000366620.1_Missense_Mutation_p.I54N|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	170					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	TACTTCCACATCCGCTGGGGC	0.607																																																	0													141.0	107.0	118.0					1																	233802494		2203	4300	6503	SO:0001583	missense	0			U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.509T>A	1.37:g.233802494T>A	ENSP00000355580:p.Ile170Asn		Q13307|Q5T5E8	Missense_Mutation	SNP	pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl	p.I170N	ENST00000366621.3	37	c.509	CCDS1599.1	1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.930247	0.34096	.	.	ENSG00000135750	ENST00000366621;ENST00000366620;ENST00000446915	T;D;D	0.97455	1.92;-4.39;-4.39	5.91	4.79	0.61399	.	0.813976	0.11251	N	0.583592	D	0.93245	0.7848	L	0.29908	0.895	0.26713	N	0.970925	B	0.18166	0.026	B	0.18263	0.021	D	0.84219	0.0460	10	0.17369	T	0.5	.	10.2756	0.43507	0.0:0.0809:0.0:0.9191	.	170	O00180	KCNK1_HUMAN	N	170;54;88	ENSP00000355580:I170N;ENSP00000355579:I54N;ENSP00000409626:I88N	ENSP00000355579:I54N	I	+	2	0	KCNK1	231869117	0.488000	0.25996	0.901000	0.35422	0.989000	0.77384	1.889000	0.39718	1.067000	0.40740	0.533000	0.62120	ATC	KCNK1	-	pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1	ENSG00000135750		0.607	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK1	HGNC	protein_coding	OTTHUMT00000092565.1	-	0.00	54	0	T	NM_002245		233802494	+1	tier1	-	no_errors	ENST00000366621	ensembl	human	known	74_37	missense	23.08	49	15	SNP	0.462	A
KIAA0319	9856	genome.wustl.edu	37	6	24547415	24547415	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:24547415C>A	ENST00000378214.3	-	21	3721	c.3197G>T	c.(3196-3198)aGt>aTt	p.S1066I	KIAA0319_ENST00000430948.2_Missense_Mutation_p.S1021I|KIAA0319_ENST00000543707.1_Missense_Mutation_p.S1066I|KIAA0319_ENST00000537886.1_Missense_Mutation_p.S1005I|KIAA0319_ENST00000535378.1_Missense_Mutation_p.S1057I	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	1066					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TGAGCAATAACTGAAGGAAGC	0.458																																																	0													209.0	196.0	200.0					6																	24547415		2203	4300	6503	SO:0001583	missense	0			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.3197G>T	6.37:g.24547415C>A	ENSP00000367459:p.Ser1066Ile		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.S1066I	ENST00000378214.3	37	c.3197	CCDS34348.1	6	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998818	0.54147	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.09073	3.02;3.12;3.13;3.12;3.12	4.76	3.88	0.44766	.	0.380552	0.26065	N	0.026551	T	0.04363	0.0120	N	0.22421	0.69	0.23174	N	0.99818	D;D;D	0.60575	0.988;0.988;0.979	P;P;P	0.56700	0.804;0.804;0.642	T	0.30475	-0.9977	10	0.41790	T	0.15	-3.0869	7.5826	0.27974	0.0:0.7287:0.0:0.2713	.	1005;1057;1066	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	I	1005;1057;1021;1066;1066	ENSP00000439700:S1005I;ENSP00000442403:S1057I;ENSP00000401086:S1021I;ENSP00000367459:S1066I;ENSP00000437656:S1066I	ENSP00000367459:S1066I	S	-	2	0	KIAA0319	24655394	0.995000	0.38212	0.688000	0.30117	0.875000	0.50365	0.282000	0.18829	1.200000	0.43188	0.655000	0.94253	AGT	KIAA0319	-	NULL	ENSG00000137261		0.458	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319	HGNC	protein_coding	OTTHUMT00000040009.1	-	0.00	60	0	C	NM_014809		24547415	-1	tier1	-	no_errors	ENST00000378214	ensembl	human	known	74_37	missense	26.09	34	12	SNP	0.983	A
KIF16B	55614	genome.wustl.edu	37	20	16360078	16360078	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr20:16360078C>T	ENST00000354981.2	-	19	2726	c.2569G>A	c.(2569-2571)Gaa>Aaa	p.E857K	KIF16B_ENST00000378003.2_Missense_Mutation_p.E83K|KIF16B_ENST00000355755.3_Missense_Mutation_p.E857K|KIF16B_ENST00000408042.1_Missense_Mutation_p.E857K	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	857	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ATCTCCTGTTCTTCTTGGACT	0.418																																																	0													146.0	142.0	144.0					20																	16360078		2203	4300	6503	SO:0001583	missense	0			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2569G>A	20.37:g.16360078C>T	ENSP00000347076:p.Glu857Lys		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.E857K	ENST00000354981.2	37	c.2569	CCDS13122.1	20	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970502	0.53614	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	5.6	5.6	0.85130	.	0.101220	0.64402	D	0.000003	T	0.27697	0.0681	L	0.53249	1.67	0.54753	D	0.999987	P;P;P;P	0.50943	0.787;0.94;0.825;0.732	B;P;P;B	0.49708	0.359;0.62;0.461;0.254	T	0.00704	-1.1602	10	0.23302	T	0.38	.	19.1957	0.93689	0.0:1.0:0.0:0.0	.	857;857;857;857	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	K	857;857;701;83;857	ENSP00000347076:E857K;ENSP00000347995:E857K;ENSP00000367242:E83K;ENSP00000384164:E857K	ENSP00000347076:E857K	E	-	1	0	KIF16B	16308078	1.000000	0.71417	0.215000	0.23724	0.005000	0.04900	7.322000	0.79097	2.645000	0.89757	0.650000	0.86243	GAA	KIF16B	-	NULL	ENSG00000089177		0.418	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	-	0.00	62	0	C	NM_017683		16360078	-1	tier1	-	no_errors	ENST00000408042	ensembl	human	known	74_37	missense	28.89	32	13	SNP	0.997	T
KMT2D	8085	genome.wustl.edu	37	12	49418397	49418397	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr12:49418397G>A	ENST00000301067.7	-	50	16015	c.16016C>T	c.(16015-16017)gCc>gTc	p.A5339V		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5339					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)	p.A5069V(1)|p.A5339V(1)									CTCTGATCGGGCACAGCCAGT	0.567																																																	2	Substitution - Missense(2)	lung(2)											49.0	49.0	49.0					12																	49418397		1982	4170	6152	SO:0001583	missense	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.16016C>T	12.37:g.49418397G>A	ENSP00000301067:p.Ala5339Val		O14687	Missense_Mutation	SNP	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.A5339V	ENST00000301067.7	37	c.16016	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.401096	0.96030	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	D;D	0.97016	-1.8;-4.21	5.36	5.36	0.76844	.	0.000000	0.35067	N	0.003476	D	0.98040	0.9354	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98766	1.0726	10	0.87932	D	0	.	18.2502	0.90000	0.0:0.0:1.0:0.0	.	5339	O14686	MLL2_HUMAN	V	5339;4	ENSP00000301067:A5339V;ENSP00000435714:A4V	ENSP00000301067:A5339V	A	-	2	0	MLL2	47704664	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.685000	0.91497	0.655000	0.94253	GCC	KMT2D	-	NULL	ENSG00000167548		0.567	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0.00	60	0	G			49418397	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	A
KRTAP10-7	386675	genome.wustl.edu	37	21	46020662	46020663	+	Frame_Shift_Ins	INS	-	-	GA	rs36208679|rs60739860|rs373191083		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr21:46020662_46020663insGA	ENST00000380102.2	+	1	166_167	c.141_142insGA	c.(142-144)gccfs	p.A48fs	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	48	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CCCCCTGCTGCGCCCCCAGCTG	0.708																																																	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)																																								SO:0001589	frameshift_variant	0			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	Exception_encountered	21.37:g.46020662_46020663insGA	ENSP00000369445:p.Ala48fs		Q0VDJ8|Q70LJ2	Frame_Shift_Ins	INS	NULL	p.A47fs	ENST00000380102.2	37	c.141_142		21																																																																																			KRTAP10-7	-	NULL	ENSG00000205441		0.708	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	KRTAP10-7	HGNC	protein_coding	OTTHUMT00000128038.1		0.00	66	0	-	NM_198689		46020663	+1	tier1		no_errors	ENST00000380102	ensembl	human	known	74_37	frame_shift_ins	10.53	17	2	INS	0.713:0.752	GA
LAMA1	284217	genome.wustl.edu	37	18	6959479	6959479	+	Missense_Mutation	SNP	C	C	T	rs367598361		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr18:6959479C>T	ENST00000389658.3	-	54	7732	c.7639G>A	c.(7639-7641)Gtc>Atc	p.V2547I	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2547	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATCAGCATGACGGAAAAGAAG	0.468																																																	0								T	ILE/VAL	0,4406		0,0,2203	75.0	63.0	67.0		7639	3.3	0.5	18		67	1,8599	819.1+/-406.8	0,1,4299	no	missense	LAMA1	NM_005559.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	2547/3076	6959479	1,13005	2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7639G>A	18.37:g.6959479C>T	ENSP00000374309:p.Val2547Ile			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.V2547I	ENST00000389658.3	37	c.7639	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.739594	0.00681	0.0	1.16E-4	ENSG00000101680	ENST00000389658	T	0.79352	-1.26	5.72	3.35	0.38373	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.060389	0.64402	N	0.000009	T	0.47581	0.1453	N	0.02315	-0.6	0.09310	N	0.999997	B	0.06786	0.001	B	0.06405	0.002	T	0.35475	-0.9787	10	0.06236	T	0.91	.	9.5839	0.39504	0.0:0.1978:0.0:0.8022	.	2547	P25391	LAMA1_HUMAN	I	2547	ENSP00000374309:V2547I	ENSP00000374309:V2547I	V	-	1	0	LAMA1	6949479	1.000000	0.71417	0.496000	0.27539	0.004000	0.04260	1.055000	0.30467	0.117000	0.18138	-1.204000	0.01649	GTC	LAMA1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000101680		0.468	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0.00	73	0	C	NM_005559		6959479	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	70.73	24	58	SNP	0.994	T
LAMA5	3911	genome.wustl.edu	37	20	60912701	60912701	+	Silent	SNP	C	C	T	rs143941434	byFrequency	TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr20:60912701C>T	ENST00000252999.3	-	16	2175	c.2109G>A	c.(2107-2109)acG>acA	p.T703T		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	703	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			ACCGCAGCCCCGTCACACGGG	0.662																																																	0								C		0,4398		0,0,2199	36.0	33.0	34.0		2109	-9.8	0.0	20	dbSNP_134	34	6,8588	3.7+/-12.6	0,6,4291	no	coding-synonymous	LAMA5	NM_005560.3		0,6,6490	TT,TC,CC		0.0698,0.0,0.0462		703/3696	60912701	6,12986	2199	4297	6496	SO:0001819	synonymous_variant	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.2109G>A	20.37:g.60912701C>T			Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.T703	ENST00000252999.3	37	c.2109	CCDS33502.1	20																																																																																			LAMA5	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin	ENSG00000130702		0.662	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	-	0.00	51	0	C	NM_005560		60912701	-1	tier1	rs143941434	no_errors	ENST00000252999	ensembl	human	known	74_37	silent	16.44	61	12	SNP	0.000	T
LARS2	23395	genome.wustl.edu	37	3	45588891	45588891	+	Missense_Mutation	SNP	C	C	G	rs556149785		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr3:45588891C>G	ENST00000415258.1	+	21	2722	c.2581C>G	c.(2581-2583)Cgg>Ggg	p.R861G	LARS2_ENST00000265537.3_Missense_Mutation_p.R861G|LARS2_ENST00000414984.1_Missense_Mutation_p.R818G			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	861					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	ACAAGTTGCCCGGGACCAGGA	0.478																																																	0													74.0	76.0	76.0					3																	45588891		2203	4300	6503	SO:0001583	missense	0			AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.2581C>G	3.37:g.45588891C>G	ENSP00000408576:p.Arg861Gly			Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito	p.R861G	ENST00000415258.1	37	c.2581	CCDS2728.1	3	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654878	0.47467	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	T;T;T	0.22743	1.94;1.94;1.94	5.6	4.71	0.59529	.	0.589252	0.18404	N	0.142264	T	0.27731	0.0682	M	0.68317	2.08	0.27820	N	0.941836	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.15578	-1.0432	10	0.59425	D	0.04	-9.632	16.327	0.82987	0.0:0.8676:0.1324:0.0	.	818;861	E9PHM2;Q15031	.;SYLM_HUMAN	G	861;861;818	ENSP00000265537:R861G;ENSP00000408576:R861G;ENSP00000412893:R818G	ENSP00000265537:R861G	R	+	1	2	LARS2	45563895	0.127000	0.22367	0.538000	0.28064	0.936000	0.57629	1.067000	0.30616	1.321000	0.45227	0.655000	0.94253	CGG	LARS2	-	tigrfam_Leu-tRNA-ligase_bac/mito	ENSG00000011376		0.478	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LARS2	HGNC	protein_coding	OTTHUMT00000345001.1	-	0.00	79	0	C	NM_015340		45588891	+1	tier1	-	no_errors	ENST00000265537	ensembl	human	known	74_37	missense	56.86	22	29	SNP	0.989	G
LCE2D	353141	genome.wustl.edu	37	1	152636848	152636848	+	Silent	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:152636848C>T	ENST00000368784.1	+	2	322	c.267C>T	c.(265-267)ccC>ccT	p.P89P		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	89	Cys-rich.				keratinization (GO:0031424)					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCAGAGCCCCGATTGCTGTG	0.667																																																	0													43.0	55.0	51.0					1																	152636848		2197	4291	6488	SO:0001819	synonymous_variant	0			BI670513	CCDS1018.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000187223	ENSG00000187223		"""Late cornified envelopes"""	16518	protein-coding gene	gene with protein product		612612	"""small proline rich-like (epidermal differentiation complex) 1A"""	SPRL1A		11698679	Standard	NM_178430		Approved	LEP12	uc001fag.4	Q5TA82	OTTHUMG00000014400	ENST00000368784.1:c.267C>T	1.37:g.152636848C>T			A1L4M8	Silent	SNP	NULL	p.P89	ENST00000368784.1	37	c.267	CCDS1018.1	1																																																																																			LCE2D	-	NULL	ENSG00000187223		0.667	LCE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE2D	HGNC	protein_coding	OTTHUMT00000040058.1	-	0.00	104	0	C	NM_178430		152636848	+1	tier1	-	no_errors	ENST00000368784	ensembl	human	known	74_37	silent	27.91	93	36	SNP	0.002	T
LEO1	123169	genome.wustl.edu	37	15	52254643	52254643	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr15:52254643G>T	ENST00000299601.5	-	3	922	c.862C>A	c.(862-864)Cgc>Agc	p.R288S	LEO1_ENST00000315141.5_Missense_Mutation_p.R288S	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	288	Asp-rich.				endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		GCATTCTTGCGTTTCATTCGT	0.358																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)												0													84.0	78.0	80.0					15																	52254643		2195	4293	6488	SO:0001583	missense	0			AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.862C>A	15.37:g.52254643G>T	ENSP00000299601:p.Arg288Ser		Q96N99	Missense_Mutation	SNP	pfam_Leo1	p.R288S	ENST00000299601.5	37	c.862	CCDS10146.1	15	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890229	0.52014	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.54	4.59	0.56863	.	0.271763	0.34802	N	0.003666	T	0.50922	0.1644	L	0.41236	1.265	0.80722	D	1	B;B	0.17667	0.023;0.012	B;B	0.16722	0.016;0.01	T	0.44682	-0.9312	9	0.09084	T	0.74	.	15.752	0.77992	0.0:0.0:0.8629:0.1371	.	288;288	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	S	288;266;288	.	ENSP00000299601:R288S	R	-	1	0	LEO1	50041935	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.110000	0.41873	2.597000	0.87782	0.455000	0.32223	CGC	LEO1	-	NULL	ENSG00000166477		0.358	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEO1	HGNC	protein_coding	OTTHUMT00000254791.2	-	0.00	71	0	G	NM_138792		52254643	-1	tier1	-	no_errors	ENST00000299601	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T
LIG4	3981	genome.wustl.edu	37	13	108861355	108861355	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr13:108861355A>T	ENST00000356922.4	-	2	2534	c.2262T>A	c.(2260-2262)ttT>ttA	p.F754L	LIG4_ENST00000405925.1_Missense_Mutation_p.F754L|LIG4_ENST00000442234.1_Missense_Mutation_p.F754L	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	754					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATTCACGGGCAAAATGTTCTT	0.378								Non-homologous end-joining																																									0													66.0	66.0	66.0					13																	108861355		2203	4299	6502	SO:0001583	missense	0			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2262T>A	13.37:g.108861355A>T	ENSP00000349393:p.Phe754Leu		Q8IY66|Q8TEU5	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.F754L	ENST00000356922.4	37	c.2262	CCDS9508.1	13	.	.	.	.	.	.	.	.	.	.	A	15.07	2.723615	0.48728	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.60040	0.22;0.22;0.22	5.72	1.7	0.24286	.	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	L	0.58101	1.795	0.53005	D	0.999968	B	0.21520	0.057	B	0.30716	0.119	T	0.23154	-1.0196	10	0.08599	T	0.76	.	8.4946	0.33121	0.7419:0.0:0.2581:0.0	.	754	P49917	DNLI4_HUMAN	L	754	ENSP00000385955:F754L;ENSP00000402030:F754L;ENSP00000349393:F754L	ENSP00000349393:F754L	F	-	3	2	LIG4	107659356	1.000000	0.71417	0.984000	0.44739	0.945000	0.59286	1.187000	0.32090	0.052000	0.16007	-0.444000	0.05651	TTT	LIG4	-	pfam_DNA_ligase_IV	ENSG00000174405		0.378	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG4	HGNC	protein_coding	OTTHUMT00000045738.4	-	0.00	57	0	A	NM_002312		108861355	-1	tier1	-	no_errors	ENST00000356922	ensembl	human	known	74_37	missense	48.57	18	17	SNP	1.000	T
LINC00905	148231	genome.wustl.edu	37	19	16144930	16144930	+	RNA	SNP	G	G	C			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:16144930G>C	ENST00000588117.2	+	0	175					NR_024335.1|NR_024336.1				long intergenic non-protein coding RNA 905																		GGGGGTGGCtgtcagtggggc	0.612																																																	0																																												0			BC031284, BC069223, DB461577		19p13.12	2013-05-21			ENSG00000167459	ENSG00000167459		"""Long non-coding RNAs"""	26334	non-coding RNA	RNA, long non-coding							Standard	NR_110321		Approved	FLJ25328			OTTHUMG00000182270		19.37:g.16144930G>C				RNA	SNP	-	NULL	ENST00000588117.2	37	NULL		19																																																																																			LINC00905	-	-	ENSG00000167459		0.612	LINC00905-001	KNOWN	basic	lincRNA	LINC00905	HGNC	processed_transcript	OTTHUMT00000460313.2	-	0.00	52	0	G	NR_024335		16144930	+1	tier1	-	no_errors	ENST00000588838	ensembl	human	known	74_37	rna	5.33	142	8	SNP	0.498	C
LINC00943	100507206	genome.wustl.edu	37	12	127229599	127229599	+	lincRNA	SNP	T	T	C			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr12:127229599T>C	ENST00000535544.1	+	0	1616				LINC00944_ENST00000540684.1_lincRNA					long intergenic non-protein coding RNA 943																		TTTCCTCAGTTTCCTCATCTT	0.433																																																	0																																												0					12q24.32	2013-05-30			ENSG00000189238	ENSG00000189238		"""Long non-coding RNAs"""	48639	non-coding RNA	RNA, long non-coding							Standard	NR_038256		Approved				OTTHUMG00000168479		12.37:g.127229599T>C				RNA	SNP	-	NULL	ENST00000535544.1	37	NULL		12																																																																																			LINC00943	-	-	ENSG00000189238		0.433	LINC00943-002	KNOWN	basic	lincRNA	LINC00943	HGNC	lincRNA	OTTHUMT00000399867.1	-	0.00	66	0	T			127229599	+1	tier1	-	no_errors	ENST00000345111	ensembl	human	known	74_37	rna	24.39	31	10	SNP	0.000	C
LMTK2	22853	genome.wustl.edu	37	7	97821506	97821506	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:97821506G>A	ENST00000297293.5	+	11	2022	c.1729G>A	c.(1729-1731)Gat>Aat	p.D577N		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	577					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AACCGACATGGATAATCCAGA	0.488																																																	0													59.0	62.0	61.0					7																	97821506		2203	4300	6503	SO:0001583	missense	0			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1729G>A	7.37:g.97821506G>A	ENSP00000297293:p.Asp577Asn		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D577N	ENST00000297293.5	37	c.1729	CCDS5654.1	7	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637924	0.67130	.	.	ENSG00000164715	ENST00000297293	T	0.80738	-1.41	5.33	5.33	0.75918	.	0.481200	0.24549	N	0.037570	T	0.79299	0.4422	L	0.57536	1.79	0.36265	D	0.854801	P	0.51791	0.948	P	0.45377	0.478	D	0.84829	0.0801	10	0.62326	D	0.03	.	11.8004	0.52124	0.0803:0.0:0.9197:0.0	.	577	Q8IWU2	LMTK2_HUMAN	N	577	ENSP00000297293:D577N	ENSP00000297293:D577N	D	+	1	0	LMTK2	97659442	1.000000	0.71417	0.105000	0.21289	0.081000	0.17604	3.283000	0.51701	2.666000	0.90696	0.655000	0.94253	GAT	LMTK2	-	NULL	ENSG00000164715		0.488	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	HGNC	protein_coding	OTTHUMT00000334560.1	-	0.00	111	0	G	NM_014916		97821506	+1	tier1	-	no_errors	ENST00000297293	ensembl	human	known	74_37	missense	42.39	53	39	SNP	0.975	A
FAP	2191	genome.wustl.edu	37	2	163027647	163027647	+	Intron	SNP	T	T	G			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr2:163027647T>G	ENST00000188790.4	-	26	2389				AC007750.5_ENST00000418968.3_RNA|FAP_ENST00000443424.1_Intron|AC007750.5_ENST00000609668.1_RNA	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TGCATTTAGCTTGGACTTTTT	0.378																																																	0																																										SO:0001627	intron_variant	0			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.2182-57A>C	2.37:g.163027647T>G				RNA	SNP	-	NULL	ENST00000188790.4	37	NULL	CCDS33311.1	2																																																																																			AC007750.5	-	-	ENSG00000236841		0.378	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101929532	Clone_based_vega_gene	protein_coding	OTTHUMT00000332852.2	-	0.00	22	0	T			163027647	+1	tier1	-	no_errors	ENST00000418968	ensembl	human	known	74_37	rna	55.56	8	10	SNP	0.000	G
LOC101928195	101928195	genome.wustl.edu	37	9	42856234	42856234	+	RNA	SNP	T	T	C			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr9:42856234T>C	ENST00000454768.2	-	0	0																											TTTGGCTCCATAGACAGCCTG	0.363																																																	0																																												0																															9.37:g.42856234T>C				RNA	SNP	-	NULL	ENST00000454768.2	37	NULL		9																																																																																			AC129778.2	-	-	ENSG00000184906		0.363	AC129778.2-003	KNOWN	basic	processed_transcript	LOC101929583	Clone_based_vega_gene	pseudogene	OTTHUMT00000143081.2	-	0.00	82	0	T			42856234	-1	tier1	-	no_errors	ENST00000412301	ensembl	human	known	74_37	rna	20.00	8	2	SNP	1.000	C
LOXHD1	125336	genome.wustl.edu	37	18	44065079	44065079	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr18:44065079C>T	ENST00000398722.4	-	32	5250	c.5251G>A	c.(5251-5253)Gaa>Aaa	p.E1751K	LOXHD1_ENST00000441551.2_Missense_Mutation_p.E1823K|LOXHD1_ENST00000582408.1_Missense_Mutation_p.E856K|LOXHD1_ENST00000579038.1_Missense_Mutation_p.E822K|LOXHD1_ENST00000398686.4_Missense_Mutation_p.E268K|LOXHD1_ENST00000441893.2_Missense_Mutation_p.E900K|LOXHD1_ENST00000398705.2_Missense_Mutation_p.E268K|LOXHD1_ENST00000536736.1_Missense_Mutation_p.E1967K|LOXHD1_ENST00000300591.6_Missense_Mutation_p.E918K			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	1751	PLAT 13. {ECO:0000255|PROSITE- ProRule:PRU00152}.				calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						TCCCTGGTTTCGCCTCCGTTG	0.567																																																	0													96.0	84.0	87.0					18																	44065079		692	1591	2283	SO:0001583	missense	0			AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.5251G>A	18.37:g.44065079C>T	ENSP00000381707:p.Glu1751Lys		B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Missense_Mutation	SNP	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom	p.E1967K	ENST00000398722.4	37	c.5899		18	.	.	.	.	.	.	.	.	.	.	C	17.19	3.327251	0.60743	.	.	ENSG00000167210	ENST00000300591;ENST00000398722;ENST00000398705;ENST00000536736;ENST00000441893;ENST00000398686	T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.6	5.6	0.85130	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	.	.	.	.	T	0.51770	0.1694	L	0.29908	0.895	0.46149	D	0.998891	D;D;P	0.56287	0.975;0.975;0.95	B;B;B	0.42851	0.4;0.4;0.345	T	0.48445	-0.9035	9	0.08837	T	0.75	.	19.9855	0.97347	0.0:1.0:0.0:0.0	.	1967;900;1751	F5GZB4;F8WA52;Q8IVV2	.;.;LOXH1_HUMAN	K	918;1751;268;1967;900;268	ENSP00000300591:E918K;ENSP00000381707:E1751K;ENSP00000381692:E268K;ENSP00000444586:E1967K;ENSP00000409062:E900K;ENSP00000381676:E268K	ENSP00000300591:E918K	E	-	1	0	LOXHD1	42319077	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	4.102000	0.57776	2.806000	0.96561	0.655000	0.94253	GAA	LOXHD1	-	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pfscan_PLAT/LH2_dom	ENSG00000167210		0.567	LOXHD1-201	KNOWN	basic	protein_coding	LOXHD1	HGNC	protein_coding		-	0.00	61	0	C	NM_144612		44065079	-1	tier1	-	no_errors	ENST00000536736	ensembl	human	known	74_37	missense	33.33	22	11	SNP	1.000	T
LRCH4	4034	genome.wustl.edu	37	7	100180051	100180051	+	Silent	SNP	G	G	C	rs200187564		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:100180051G>C	ENST00000310300.6	-	2	304	c.252C>G	c.(250-252)ccC>ccG	p.P84P	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	84					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACGCCGCCTCGGGCACCTCGG	0.647																																																	0													47.0	47.0	47.0					7																	100180051		2203	4300	6503	SO:0001819	synonymous_variant	0			AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.252C>G	7.37:g.100180051G>C			A4D2D5|Q8WV85|Q96ID0	Silent	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.P84	ENST00000310300.6	37	c.252	CCDS34706.1	7																																																																																			LRCH4	-	NULL	ENSG00000077454		0.647	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRCH4	HGNC	protein_coding	OTTHUMT00000356110.1	-	0.00	83	0	G	NM_002319		100180051	-1	tier1	-	no_errors	ENST00000310300	ensembl	human	known	74_37	silent	12.12	87	12	SNP	0.005	C
LRP12	29967	genome.wustl.edu	37	8	105601095	105601095	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr8:105601095G>A	ENST00000276654.5	-	1	139	c.31C>T	c.(31-33)Ccg>Tcg	p.P11S	RP11-127H5.1_ENST00000521923.1_5'Flank|LRP12_ENST00000424843.2_Missense_Mutation_p.P11S	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	11					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTCCACCGCGGAGACTCTTTT	0.622																																																	0													68.0	56.0	60.0					8																	105601095		2203	4300	6503	SO:0001583	missense	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.31C>T	8.37:g.105601095G>A	ENSP00000276654:p.Pro11Ser		A8K137|B4DRQ2	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.P11S	ENST00000276654.5	37	c.31	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277912	0.40294	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523830	D;D	0.83075	-1.68;-1.58	4.0	3.12	0.35913	.	0.550330	0.14518	U	0.314626	T	0.66557	0.2801	N	0.08118	0	0.80722	D	1	B;B;B	0.19445	0.036;0.007;0.002	B;B;B	0.12156	0.003;0.007;0.007	T	0.61422	-0.7066	10	0.59425	D	0.04	-1.2386	9.2326	0.37446	0.1061:0.0:0.8939:0.0	.	11;11;11	Q68DE8;Q9Y561-2;Q9Y561	.;.;LRP12_HUMAN	S	11	ENSP00000399148:P11S;ENSP00000276654:P11S	ENSP00000276654:P11S	P	-	1	0	LRP12	105670271	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.971000	0.49248	0.873000	0.35799	0.655000	0.94253	CCG	LRP12	-	NULL	ENSG00000147650		0.622	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	-	0.00	132	0	G	NM_013437		105601095	-1	tier1	-	no_errors	ENST00000424843	ensembl	human	known	74_37	missense	56.41	68	88	SNP	1.000	A
LRRC39	127495	genome.wustl.edu	37	1	100626108	100626108	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:100626108C>T	ENST00000370137.1	-	4	331	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	LRRC39_ENST00000370138.1_Missense_Mutation_p.E45K|LRRC39_ENST00000342895.3_Missense_Mutation_p.E45K	NM_001256386.1|NM_144620.3	NP_001243315.1|NP_653221.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	45										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CTTACTCGTTCTTCCCAGATC	0.373																																																	0													149.0	146.0	147.0					1																	100626108		2203	4300	6503	SO:0001583	missense	0			AK096892	CCDS766.1, CCDS58014.1	1p21.3	2008-02-05			ENSG00000122477	ENSG00000122477			28228	protein-coding gene	gene with protein product						12975309	Standard	NM_001256385		Approved	MGC14816	uc001dsx.2	Q96DD0	OTTHUMG00000010839	ENST00000370137.1:c.133G>A	1.37:g.100626108C>T	ENSP00000359156:p.Glu45Lys		B3KUD2|D3DT56|Q5VVK7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E45K	ENST00000370137.1	37	c.133	CCDS766.1	1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791244	0.90367	.	.	ENSG00000122477	ENST00000370137;ENST00000370138;ENST00000342895;ENST00000370136	T;T;T	0.00349	7.99;7.99;7.99	4.99	4.99	0.66335	.	0.115304	0.38605	N	0.001629	T	0.00073	0.0002	N	0.14661	0.345	0.38022	D	0.934876	P;P	0.39480	0.675;0.546	B;B	0.38428	0.273;0.115	T	0.82106	-0.0621	10	0.22706	T	0.39	.	12.0694	0.53607	0.0:0.9205:0.0:0.0795	.	45;45	Q96DD0-2;Q96DD0	.;LRC39_HUMAN	K	45	ENSP00000359156:E45K;ENSP00000359157:E45K;ENSP00000344470:E45K	ENSP00000344470:E45K	E	-	1	0	LRRC39	100398696	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.305000	0.59110	2.495000	0.84180	0.650000	0.86243	GAA	LRRC39	-	NULL	ENSG00000122477		0.373	LRRC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC39	HGNC	protein_coding	OTTHUMT00000029917.2	-	0.00	94	0	C	NM_144620		100626108	-1	tier1	-	no_errors	ENST00000370138	ensembl	human	known	74_37	missense	39.13	28	18	SNP	1.000	T
LRRC4B	94030	genome.wustl.edu	37	19	51021013	51021013	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:51021013G>A	ENST00000599957.1	-	3	2154	c.1957C>T	c.(1957-1959)Ccc>Tcc	p.P653S	LRRC4B_ENST00000389201.3_Missense_Mutation_p.P653S			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	653					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TCCAGGGCGGGCAGGGCCAGG	0.751																																																	0													29.0	32.0	31.0					19																	51021013		1960	4134	6094	SO:0001583	missense	0			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1957C>T	19.37:g.51021013G>A	ENSP00000471502:p.Pro653Ser		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P653S	ENST00000599957.1	37	c.1957	CCDS42595.1	19	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356041	0.61293	.	.	ENSG00000131409	ENST00000389201	T	0.36340	1.26	2.62	2.62	0.31277	.	0.000000	0.64402	U	0.000011	T	0.51500	0.1678	L	0.59436	1.845	0.50813	D	0.999899	D	0.60575	0.988	D	0.70016	0.967	T	0.54735	-0.8249	10	0.66056	D	0.02	.	10.9802	0.47490	0.0:0.0:1.0:0.0	.	653	Q9NT99	LRC4B_HUMAN	S	653	ENSP00000373853:P653S	ENSP00000373853:P653S	P	-	1	0	LRRC4B	55712825	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	9.162000	0.94745	1.470000	0.48102	0.462000	0.41574	CCC	LRRC4B	-	NULL	ENSG00000131409		0.751	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4B	HGNC	protein_coding	OTTHUMT00000464907.1	-	0.00	33	0	G	NM_001080457		51021013	-1	tier1	-	no_errors	ENST00000389201	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	A
LSP1	4046	genome.wustl.edu	37	11	1907990	1907990	+	Missense_Mutation	SNP	G	G	A	rs147990493		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:1907990G>A	ENST00000311604.3	+	8	921	c.746G>A	c.(745-747)cGc>cAc	p.R249H	LSP1_ENST00000405957.2_Missense_Mutation_p.R187H|LSP1_ENST00000406638.2_Missense_Mutation_p.R187H|LSP1_ENST00000381775.1_Missense_Mutation_p.R377H|LSP1_ENST00000485341.1_3'UTR	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	249					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)	p.R187H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		AAGCTAGCCCGCCAGGCCTCC	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18161	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)						G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4404		0,0,2202	56.0	63.0	61.0		560,560,560,746	3.3	1.0	11	dbSNP_134	61	1,8597		0,1,4298	no	missense,missense,missense,missense	LSP1	NM_001013253.1,NM_001013254.1,NM_001013255.1,NM_002339.2	29,29,29,29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	187/278,187/278,187/278,249/340	1907990	1,13001	2202	4299	6501	SO:0001583	missense	0			M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.746G>A	11.37:g.1907990G>A	ENSP00000308383:p.Arg249His		B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Missense_Mutation	SNP	pfam_Caldesmon_LSP,prints_Lymphspecific	p.R249H	ENST00000311604.3	37	c.746	CCDS31334.1	11	.	.	.	.	.	.	.	.	.	.	.	17.51	3.407900	0.62399	0.0	1.16E-4	ENSG00000130592	ENST00000311604;ENST00000381775;ENST00000405957;ENST00000457279;ENST00000406638;ENST00000417766;ENST00000432093	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	3.3	3.3	0.37823	.	0.184499	0.25598	N	0.029567	T	0.62732	0.2452	L	0.59436	1.845	0.41576	D	0.988715	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.66846	-0.5820	10	0.62326	D	0.03	-19.5768	12.8897	0.58064	0.0:0.0:1.0:0.0	.	377;249	E9PFP3;P33241	.;LSP1_HUMAN	H	249;377;187;240;187;187;187	ENSP00000308383:R249H;ENSP00000371194:R377H;ENSP00000383932:R187H;ENSP00000400346:R240H;ENSP00000384022:R187H;ENSP00000416363:R187H;ENSP00000412405:R187H	ENSP00000308383:R249H	R	+	2	0	LSP1	1864566	0.964000	0.33143	0.998000	0.56505	0.626000	0.37791	5.515000	0.67049	1.850000	0.53721	0.455000	0.32223	CGC	LSP1	-	pfam_Caldesmon_LSP,prints_Lymphspecific	ENSG00000130592		0.622	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	LSP1	HGNC	protein_coding	OTTHUMT00000034045.3	-	0.00	99	0	G	NM_002339		1907990	+1	tier1	rs147990493	no_errors	ENST00000311604	ensembl	human	known	74_37	missense	80.36	11	45	SNP	0.999	A
LY75	4065	genome.wustl.edu	37	2	160734874	160734874	+	Missense_Mutation	SNP	G	G	A	rs545499741		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr2:160734874G>A	ENST00000263636.4	-	11	1762	c.1735C>T	c.(1735-1737)Cgg>Tgg	p.R579W	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R579W|LY75_ENST00000554112.1_Missense_Mutation_p.R579W|LY75_ENST00000553424.1_Missense_Mutation_p.R579W|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R579W	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	579	C-type lectin 3. {ECO:0000255|PROSITE- ProRule:PRU00040}.				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)		GTTACAGCCCGCCTTCTTCCA	0.423																																																	0													114.0	117.0	116.0					2																	160734874		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.1735C>T	2.37:g.160734874G>A	ENSP00000263636:p.Arg579Trp		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.R579W	ENST00000263636.4	37	c.1735	CCDS2211.1	2	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339341	0.41398	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.53857	0.6;2.16;2.16;0.6;2.16	5.82	5.82	0.92795	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.863339	0.09387	N	0.809104	T	0.38453	0.1041	N	0.05487	-0.04	0.09310	N	1	B;B;B;B	0.12630	0.001;0.005;0.006;0.003	B;B;B;B	0.13407	0.009;0.001;0.002;0.001	T	0.29305	-1.0016	10	0.56958	D	0.05	-1.4344	15.0695	0.72024	0.0:0.1425:0.8575:0.0	.	197;579;579;579	Q59H44;O60449-3;O60449;O60449-2	.;.;LY75_HUMAN;.	W	579	ENSP00000451511:R579W;ENSP00000451446:R579W;ENSP00000263636:R579W;ENSP00000423463:R579W;ENSP00000421035:R579W	ENSP00000423463:R579W	R	-	1	2	LY75;LY75-CD302	160443120	0.001000	0.12720	0.292000	0.24919	0.196000	0.23810	0.425000	0.21346	2.756000	0.94617	0.561000	0.74099	CGG	LY75	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000054219		0.423	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1	-	0.00	67	0	G			160734874	-1	tier1	-	no_errors	ENST00000554112	ensembl	human	known	74_37	missense	16.67	45	9	SNP	0.120	A
MAN2B2	23324	genome.wustl.edu	37	4	6577022	6577023	+	Frame_Shift_Ins	INS	-	-	A	rs201835883	byFrequency	TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr4:6577022_6577023insA	ENST00000285599.3	+	1	121_122	c.85_86insA	c.(85-87)gccfs	p.A29fs	MAN2B2_ENST00000504248.1_Frame_Shift_Ins_p.A29fs	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	29					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CCCCATCCGGGCCTTCGTGGTG	0.728																																																	0																																										SO:0001589	frameshift_variant	0			BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	Exception_encountered	4.37:g.6577022_6577023insA	ENSP00000285599:p.Ala29fs		Q66MP2|Q86T67	Frame_Shift_Ins	INS	pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.A29fs	ENST00000285599.3	37	c.85_86	CCDS33951.1	4																																																																																			MAN2B2	-	pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl	ENSG00000013288		0.728	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2B2	HGNC	protein_coding	OTTHUMT00000359106.2		0.00	9	0	-	NM_015274		6577023	+1	tier1		no_errors	ENST00000285599	ensembl	human	known	74_37	frame_shift_ins	33.33	4	2	INS	0.745:0.837	A
MAP1B	4131	genome.wustl.edu	37	5	71495042	71495042	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr5:71495042G>A	ENST00000296755.7	+	5	6158	c.5860G>A	c.(5860-5862)Ggg>Agg	p.G1954R		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1954					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TGAAGAGGGTGGGTACTCATA	0.468																																					Melanoma(17;367 822 11631 31730 47712)												0													60.0	64.0	63.0					5																	71495042		2203	4300	6503	SO:0001583	missense	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5860G>A	5.37:g.71495042G>A	ENSP00000296755:p.Gly1954Arg		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.G1954R	ENST00000296755.7	37	c.5860	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	G	10.29	1.310163	0.23821	.	.	ENSG00000131711	ENST00000296755	T	0.03272	3.99	4.98	4.1	0.47936	.	0.340041	0.25324	N	0.031491	T	0.02649	0.0080	N	0.08118	0	0.09310	N	1	P;B	0.46512	0.879;0.132	B;B	0.41202	0.35;0.034	T	0.42882	-0.9425	10	0.66056	D	0.02	-6.6695	11.9175	0.52774	0.0824:0.0:0.9176:0.0	.	1828;1954	A2BDK6;P46821	.;MAP1B_HUMAN	R	1954	ENSP00000296755:G1954R	ENSP00000296755:G1954R	G	+	1	0	MAP1B	71530798	0.897000	0.30589	0.005000	0.12908	0.978000	0.69477	3.403000	0.52615	1.071000	0.40834	0.448000	0.29417	GGG	MAP1B	-	NULL	ENSG00000131711		0.468	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	-	0.00	98	0	G	NM_005909		71495042	+1	tier1	-	no_errors	ENST00000296755	ensembl	human	known	74_37	missense	31.11	31	14	SNP	0.020	A
MICAL2	9645	genome.wustl.edu	37	11	12183842	12183842	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:12183842G>T	ENST00000256194.4	+	3	428	c.140G>T	c.(139-141)aGa>aTa	p.R47I	MICAL2_ENST00000527546.1_Missense_Mutation_p.R47I|MICAL2_ENST00000342902.5_Missense_Mutation_p.R47I|MICAL2_ENST00000537344.1_Missense_Mutation_p.R47I|MICAL2_ENST00000379612.3_Missense_Mutation_p.R47I	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	47	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CTGGACCACAGAAACTTTTAT	0.493																																																	0													66.0	65.0	66.0					11																	12183842		2201	4294	6495	SO:0001583	missense	0			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.140G>T	11.37:g.12183842G>T	ENSP00000256194:p.Arg47Ile		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.R47I	ENST00000256194.4	37	c.140	CCDS7809.1	11	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852208	0.32699	.	.	ENSG00000133816	ENST00000537344;ENST00000532179;ENST00000526065;ENST00000256194;ENST00000532420;ENST00000527546;ENST00000342902;ENST00000524685;ENST00000525119;ENST00000533389;ENST00000379612	T;T;T;T;T;T;T;T;T;T;T	0.06371	3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31	5.55	4.64	0.57946	.	0.209202	0.41500	D	0.000862	T	0.14830	0.0358	M	0.62723	1.935	0.58432	D	0.999999	P;P;P;P;P;P	0.52692	0.82;0.725;0.715;0.902;0.834;0.955	B;B;B;B;B;P	0.55871	0.444;0.258;0.374;0.445;0.374;0.786	T	0.07809	-1.0753	10	0.21540	T	0.41	.	11.6162	0.51092	0.1462:0.0:0.8538:0.0	.	47;47;47;47;47;47	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851;B4DGZ0	.;.;.;.;MICA2_HUMAN;.	I	47	ENSP00000441689:R47I;ENSP00000434209:R47I;ENSP00000435270:R47I;ENSP00000256194:R47I;ENSP00000433818:R47I;ENSP00000433965:R47I;ENSP00000344894:R47I;ENSP00000437229:R47I;ENSP00000433509:R47I;ENSP00000433357:R47I;ENSP00000368932:R47I	ENSP00000256194:R47I	R	+	2	0	MICAL2	12140418	1.000000	0.71417	0.973000	0.42090	0.276000	0.26787	2.859000	0.48364	1.595000	0.50050	-0.136000	0.14681	AGA	MICAL2	-	NULL	ENSG00000133816		0.493	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	HGNC	protein_coding	OTTHUMT00000385993.1	-	0.00	85	0	G	NM_014632		12183842	+1	tier1	-	no_errors	ENST00000256194	ensembl	human	known	74_37	missense	34.33	44	23	SNP	0.998	T
MLLT4	4301	genome.wustl.edu	37	6	168227370	168227370	+	5'Flank	SNP	C	C	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:168227370C>A	ENST00000447894.2	+	0	0				MLLT4_ENST00000351017.4_5'Flank|MLLT4_ENST00000400822.3_5'Flank|MLLT4_ENST00000344191.4_5'Flank|MLLT4_ENST00000392108.3_5'Flank|MLLT4-AS1_ENST00000359760.5_RNA|MLLT4_ENST00000366806.2_5'Flank|MLLT4_ENST00000392112.1_5'Flank			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CCGGTACCGCCGGTTGGGACC	0.701			T	MLL	AL																																			Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	0																																										SO:0001631	upstream_gene_variant	0			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031		6.37:g.168227370C>A	Exception_encountered		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	RNA	SNP	-	NULL	ENST00000447894.2	37	NULL		6																																																																																			MLLT4-AS1	-	-	ENSG00000198221		0.701	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4-AS1	HGNC	protein_coding	OTTHUMT00000372077.1	-	0.00	51	0	C	NM_005936		168227370	-1	tier1	-	no_errors	ENST00000359760	ensembl	human	known	74_37	rna	55.81	19	24	SNP	0.949	A
MT-CO1	4512	genome.wustl.edu	37	M	6267	6267	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chrM:6267G>A	ENST00000361624.2	+	1	364	c.364G>A	c.(364-366)Gca>Aca	p.A122T	MT-TC_ENST00000387405.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TW_ENST00000387382.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	122					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						TGGAGGCCGGAGCAGGAACAG	0.547																																																	0																																										SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.364G>A	M.37:g.6267G>A	ENSP00000354499:p.Ala122Thr		Q34770	Missense_Mutation	SNP	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.A122T	ENST00000361624.2	37	c.364		MT																																																																																			MT-CO1	-	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	ENSG00000198804		0.547	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	HGNC	protein_coding		-	0.00	145	0	G	YP_003024028		6267	+1	tier1	rs202216551	no_errors	ENST00000361624	ensembl	human	known	74_37	missense	20.00	8	2	SNP	NULL	A
MT-ND2	4536	genome.wustl.edu	37	M	1543	1543	+	5'Flank	SNP	T	T	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chrM:1543T>A	ENST00000361453.3	+	0	0				MT-TI_ENST00000387365.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-RNR2_ENST00000387347.2_RNA			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						CCCCTACGCATTTATATAGAG	0.458																																																	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.1543T>A	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	-	NULL	ENST00000361453.3	37	NULL		MT																																																																																			MT-RNR1	-	-	ENSG00000211459		0.458	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR1	HGNC	protein_coding		-	0.00	149	0	T	YP_003024027		1543	+1	tier1	-	no_errors	ENST00000389680	ensembl	human	known	74_37	rna	20.00	8	2	SNP	NULL	A
MT-ND5	4540	genome.wustl.edu	37	M	12682	12682	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chrM:12682C>T	ENST00000361567.2	+	1	346	c.346C>T	c.(346-348)Cag>Tag	p.Q116*	MT-TG_ENST00000387429.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TE_ENST00000387459.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TR_ENST00000387439.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	116					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CAAACATTAATCAGTTCTTCA	0.368																																																	0																																										SO:0001587	stop_gained	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.346C>T	M.37:g.12682C>T	ENSP00000354813:p.Gln116*		Q34773|Q8WCY3	Nonsense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.Q116*	ENST00000361567.2	37	c.346		MT																																																																																			MT-ND5	-	pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	ENSG00000198786		0.368	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		-	0.00	140	0	C	YP_003024036		12682	+1	tier1	-	no_errors	ENST00000361567	ensembl	human	known	74_37	nonsense	100.00	0	7	SNP	NULL	T
MTERF1	7978	genome.wustl.edu	37	7	91509448	91509448	+	Intron	SNP	C	C	A	rs373119611	byFrequency	TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:91509448C>A	ENST00000351870.3	-	2	64				MTERF_ENST00000419292.1_Intron|MTERF_ENST00000406735.2_Intron|MTERF_ENST00000481516.1_5'UTR	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN							DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			CACACACACACAAAAAAAAGG	0.413													C|||	13	0.00259585	0.0038	0.0029	5008	,	,		19840	0.001		0.001	False		,,,				2504	0.0041																0													54.0	50.0	51.0					7																	91509448		2203	4300	6503	SO:0001627	intron_variant	0																														ENST00000351870.3:c.30-21G>T	7.37:g.91509448C>A			A4D1E3|Q32NF8|Q53H51|Q9BVR7	RNA	SNP	-	NULL	ENST00000351870.3	37	NULL	CCDS5621.1	7																																																																																			MTERF	-	-	ENSG00000127989		0.413	MTERF-003	KNOWN	basic|CCDS	protein_coding	MTERF	HGNC	protein_coding	OTTHUMT00000342896.1	-	0.00	38	0	C			91509448	-1	tier1	-	no_errors	ENST00000481516	ensembl	human	known	74_37	rna	22.73	17	5	SNP	0.000	A
MVP	9961	genome.wustl.edu	37	16	29856136	29856136	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr16:29856136G>A	ENST00000357402.5	+	11	2095	c.1957G>A	c.(1957-1959)Gcc>Acc	p.A653T	MVP_ENST00000395353.1_Missense_Mutation_p.A653T	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	653					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GACCCGGGACGCCCTGCAACG	0.652																																																	0													70.0	71.0	70.0					16																	29856136		2197	4300	6497	SO:0001583	missense	0			X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1957G>A	16.37:g.29856136G>A	ENSP00000349977:p.Ala653Thr		Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	pfam_Vault_N,pfam_MVP_shoulder	p.A653T	ENST00000357402.5	37	c.1957	CCDS10656.1	16	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855894	0.91355	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.32988	1.43;1.43	6.07	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.47655	0.1457	M	0.81682	2.555	0.80722	D	1	D	0.64830	0.994	P	0.50825	0.651	T	0.56715	-0.7933	10	0.72032	D	0.01	-24.4124	14.5873	0.68335	0.0:0.0:0.853:0.147	.	653	Q14764	MVP_HUMAN	T	653	ENSP00000349977:A653T;ENSP00000378760:A653T	ENSP00000349977:A653T	A	+	1	0	MVP	29763637	1.000000	0.71417	0.995000	0.50966	0.711000	0.40976	6.474000	0.73578	1.561000	0.49584	0.655000	0.94253	GCC	MVP	-	NULL	ENSG00000013364		0.652	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVP	HGNC	protein_coding	OTTHUMT00000109711.3	-	0.00	70	0	G	NM_005115		29856136	+1	tier1	-	no_errors	ENST00000357402	ensembl	human	known	74_37	missense	25.35	53	18	SNP	1.000	A
MYADM	91663	genome.wustl.edu	37	19	54377589	54377589	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:54377589G>A	ENST00000391769.2	+	3	1086	c.806G>A	c.(805-807)gGc>gAc	p.G269D	MYADM_ENST00000391770.4_Missense_Mutation_p.G269D|AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391771.1_Missense_Mutation_p.G269D|MYADM_ENST00000391768.2_Missense_Mutation_p.G269D|MYADM_ENST00000336967.3_Missense_Mutation_p.G269D	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	269	MARVEL 2. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		AAGTATGGCGGCCAGCCTCGG	0.632																																																	0													57.0	52.0	54.0					19																	54377589		2203	4300	6503	SO:0001583	missense	0			AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.806G>A	19.37:g.54377589G>A	ENSP00000375649:p.Gly269Asp		B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Missense_Mutation	SNP	pfam_Marvel	p.G269D	ENST00000391769.2	37	c.806	CCDS12866.1	19	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793406	0.90453	.	.	ENSG00000179820	ENST00000336967;ENST00000391770;ENST00000391771;ENST00000415619;ENST00000391769;ENST00000391768	.	.	.	4.3	4.3	0.51218	Marvel (1);MARVEL-like domain (1);	0.213333	0.37906	N	0.001895	T	0.75796	0.3898	M	0.81497	2.545	0.58432	D	0.999995	D	0.58268	0.982	P	0.57620	0.824	T	0.80921	-0.1166	9	0.87932	D	0	-23.9803	14.6581	0.68850	0.0:0.0:1.0:0.0	.	269	Q96S97	MYADM_HUMAN	D	269;269;269;232;269;269	.	ENSP00000337222:G269D	G	+	2	0	MYADM	59069401	0.991000	0.36638	0.026000	0.17262	0.463000	0.32649	2.053000	0.41326	2.133000	0.65898	0.305000	0.20034	GGC	MYADM	-	pfam_Marvel	ENSG00000179820		0.632	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYADM	HGNC	protein_coding	OTTHUMT00000134337.1		0.00	54	0	G	NM_138373		54377589	+1			no_errors	ENST00000336967	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.771	A
MYH3	4621	genome.wustl.edu	37	17	10542658	10542658	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr17:10542658G>T	ENST00000583535.1	-	24	3146	c.3059C>A	c.(3058-3060)tCt>tAt	p.S1020Y	MYH3_ENST00000226209.7_Missense_Mutation_p.S1020Y	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1020					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTTGTTCAAAGAATTGACTTT	0.473																																																	0													96.0	92.0	93.0					17																	10542658		2203	4300	6503	SO:0001583	missense	0				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.3059C>A	17.37:g.10542658G>T	ENSP00000464317:p.Ser1020Tyr		Q15492	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S1020Y	ENST00000583535.1	37	c.3059	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566602	0.65651	.	.	ENSG00000109063	ENST00000226209	D	0.87887	-2.31	5.62	5.62	0.85841	.	.	.	.	.	D	0.88959	0.6579	M	0.82323	2.585	0.47123	D	0.999322	P	0.37061	0.58	B	0.34652	0.187	D	0.89536	0.3789	9	0.62326	D	0.03	.	20.0275	0.97527	0.0:0.0:1.0:0.0	.	1020	P11055	MYH3_HUMAN	Y	1020	ENSP00000226209:S1020Y	ENSP00000226209:S1020Y	S	-	2	0	MYH3	10483383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.773000	0.75006	2.811000	0.96726	0.555000	0.69702	TCT	MYH3	-	NULL	ENSG00000109063		0.473	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	-	0.00	76	0	G	NM_002470		10542658	-1	tier1	-	no_errors	ENST00000226209	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T
NACA	4666	genome.wustl.edu	37	12	57106389	57106389	+	Intron	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr12:57106389C>T	ENST00000454682.1	-	9	6504				NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_5'Flank|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CAGGAGAATTCAGGTCACTAA	0.383			T	BCL6	NHL																																			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													88.0	75.0	79.0					12																	57106389		692	1591	2283	SO:0001627	intron_variant	0			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.6223-53G>A	12.37:g.57106389C>T				RNA	SNP	-	NULL	ENST00000454682.1	37	NULL		12																																																																																			NACA	-	-	ENSG00000196531		0.383	NACA-201	KNOWN	basic	protein_coding	NACA	HGNC	protein_coding		-	0.00	83	0	C	NM_005594		57106389	-1	tier1	-	no_errors	ENST00000548386	ensembl	human	known	74_37	rna	15.56	38	7	SNP	0.000	T
NACA	4666	genome.wustl.edu	37	12	57106408	57106408	+	Intron	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr12:57106408C>T	ENST00000454682.1	-	9	6504				NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_5'Flank|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AAAACTCTTACAGGCAAATCA	0.378			T	BCL6	NHL																																			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													83.0	71.0	74.0					12																	57106408		692	1591	2283	SO:0001627	intron_variant	0			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.6223-72G>A	12.37:g.57106408C>T				RNA	SNP	-	NULL	ENST00000454682.1	37	NULL		12																																																																																			NACA	-	-	ENSG00000196531		0.378	NACA-201	KNOWN	basic	protein_coding	NACA	HGNC	protein_coding		-	0.00	64	0	C	NM_005594		57106408	-1	tier1	-	no_errors	ENST00000548386	ensembl	human	known	74_37	rna	16.22	31	6	SNP	0.299	T
NAPB	63908	genome.wustl.edu	37	20	23383645	23383645	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr20:23383645C>G	ENST00000377026.4	-	2	248	c.163G>C	c.(163-165)Gct>Cct	p.A55P	NAPB_ENST00000432543.2_Missense_Mutation_p.A55P|NAPB_ENST00000472855.1_5'UTR|NAPB_ENST00000398425.3_5'UTR	NM_001283018.1|NM_001283020.1|NM_022080.2	NP_001269947.1|NP_001269949.1|NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	55					intracellular protein transport (GO:0006886)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	extracellular vesicular exosome (GO:0070062)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					CAATTTTTAGCCATCTTGAAC	0.333																																																	0													114.0	104.0	107.0					20																	23383645		2202	4299	6501	SO:0001583	missense	0			AK022817	CCDS13152.1, CCDS63241.1, CCDS63242.1, CCDS74710.1	20p12.3-p11.21	2008-08-01			ENSG00000125814	ENSG00000125814			15751	protein-coding gene	gene with protein product		611270				8455721	Standard	NM_022080		Approved	SNAP-BETA, SNAPB	uc002wta.3	Q9H115	OTTHUMG00000032062	ENST00000377026.4:c.163G>C	20.37:g.23383645C>G	ENSP00000366225:p.Ala55Pro		B4DK44|Q4G0M0|Q4G187|Q5JXF9|Q8N3C4	Missense_Mutation	SNP	prints_NSF_attach	p.A55P	ENST00000377026.4	37	c.163	CCDS13152.1	20	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669017	0.88348	.	.	ENSG00000125814	ENST00000377026;ENST00000432543;ENST00000431864	T;T	0.77750	1.39;-1.12	5.95	5.01	0.66863	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.90830	0.7120	H	0.96048	3.76	0.80722	D	1	D;D;D	0.56746	0.977;0.977;0.977	P;P;P	0.62885	0.908;0.888;0.908	D	0.93454	0.6804	10	0.87932	D	0	-8.4479	14.2355	0.65925	0.0:0.9289:0.0:0.0711	.	55;55;55	B4DK44;B4DIV0;Q9H115	.;.;SNAB_HUMAN	P	55;55;12	ENSP00000366225:A55P;ENSP00000413600:A55P	ENSP00000366225:A55P	A	-	1	0	NAPB	23331645	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.645000	0.83430	1.532000	0.49169	0.655000	0.94253	GCT	NAPB	-	prints_NSF_attach	ENSG00000125814		0.333	NAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPB	HGNC	protein_coding	OTTHUMT00000078317.2	-	0.00	88	0	C	NM_022080		23383645	-1	tier1	-	no_errors	ENST00000377026	ensembl	human	known	74_37	missense	24.00	57	18	SNP	1.000	G
NAT8L	339983	genome.wustl.edu	37	4	2065507	2065507	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr4:2065507G>A	ENST00000423729.2	+	3	562	c.562G>A	c.(562-564)Gtg>Atg	p.V188M	NAT8L_ENST00000331662.3_Missense_Mutation_p.V20M	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	188	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)	aspartate N-acetyltransferase activity (GO:0017188)	p.V20M(1)		haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			CTGGGTGGCCGTGCTGGATGG	0.667																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											63.0	55.0	58.0					4																	2065507		2203	4299	6502	SO:0001583	missense	0			AK094797	CCDS3359.1, CCDS3359.2	4p16.3	2011-11-16	2008-09-24		ENSG00000185818	ENSG00000185818			26742	protein-coding gene	gene with protein product		610647	"""N-acetyltransferase 8-like"""			11397015	Standard	NM_178557		Approved	FLJ37478, Hcml3	uc003geq.2	Q8N9F0	OTTHUMG00000121151	ENST00000423729.2:c.562G>A	4.37:g.2065507G>A	ENSP00000413064:p.Val188Met			Missense_Mutation	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.V188M	ENST00000423729.2	37	c.562	CCDS3359.2	4	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542498	0.85917	.	.	ENSG00000185818	ENST00000423729;ENST00000331662	T;T	0.32515	1.45;1.46	5.54	5.54	0.83059	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.084010	0.47852	U	0.000217	T	0.47192	0.1432	L	0.33753	1.03	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.33189	-0.9878	10	0.44086	T	0.13	-0.0025	19.0909	0.93227	0.0:0.0:1.0:0.0	.	188	Q8N9F0	NAT8L_HUMAN	M	188;20	ENSP00000413064:V188M;ENSP00000328464:V20M	ENSP00000328464:V20M	V	+	1	0	NAT8L	2035305	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.553000	0.67287	2.604000	0.88044	0.450000	0.29827	GTG	NAT8L	-	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000185818		0.667	NAT8L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT8L	HGNC	protein_coding		-	0.00	67	0	G	NM_178557		2065507	+1	tier1	-	no_errors	ENST00000423729	ensembl	human	known	74_37	missense	56.00	21	28	SNP	1.000	A
NEB	4703	genome.wustl.edu	37	2	152466583	152466583	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr2:152466583G>A	ENST00000172853.10	-	77	11488	c.11341C>T	c.(11341-11343)Cag>Tag	p.Q3781*	NEB_ENST00000427231.2_Nonsense_Mutation_p.Q4024*|NEB_ENST00000604864.1_Nonsense_Mutation_p.Q4024*|NEB_ENST00000409198.1_Nonsense_Mutation_p.Q3781*|NEB_ENST00000397345.3_Nonsense_Mutation_p.Q4024*|NEB_ENST00000603639.1_Nonsense_Mutation_p.Q4024*			P20929	NEBU_HUMAN	nebulin	3781					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.Q4024K(1)|p.Q3781K(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCAATGCTCTGGGCTCCAATG	0.403																																																	2	Substitution - Missense(2)	lung(2)											134.0	125.0	128.0					2																	152466583		1909	4130	6039	SO:0001587	stop_gained	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11341C>T	2.37:g.152466583G>A	ENSP00000172853:p.Gln3781*		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.Q4024*	ENST00000172853.10	37	c.12070		2	.	.	.	.	.	.	.	.	.	.	G	53	20.762060	0.99934	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	.	.	.	5.36	3.51	0.40186	.	0.446831	0.22584	N	0.058168	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	14.8898	0.70600	0.0:0.0:0.5411:0.4589	.	.	.	.	X	3781;4024;4024;3781	.	ENSP00000172853:Q3781X	Q	-	1	0	NEB	152174829	0.989000	0.36119	0.846000	0.33378	0.998000	0.95712	2.059000	0.41384	0.711000	0.32018	0.650000	0.86243	CAG	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.403	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0.00	55	0	G	NM_004543		152466583	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	nonsense	35.29	33	18	SNP	0.986	A
NEUROD4	58158	genome.wustl.edu	37	12	55421010	55421010	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr12:55421010T>G	ENST00000242994.3	+	2	1165	c.787T>G	c.(787-789)Ttc>Gtc	p.F263V		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	263					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CAGTGGGAACTTCTCCTTGAA	0.512																																																	0													124.0	120.0	121.0					12																	55421010		2203	4300	6503	SO:0001583	missense	0			AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.787T>G	12.37:g.55421010T>G	ENSP00000242994:p.Phe263Val		B2RAC9	Missense_Mutation	SNP	pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom	p.F263V	ENST00000242994.3	37	c.787	CCDS8886.1	12	.	.	.	.	.	.	.	.	.	.	T	24.6	4.550386	0.86127	.	.	ENSG00000123307	ENST00000242994	T	0.72394	-0.65	5.85	5.85	0.93711	Neurogenic differentiation factor, domain of unknown function (1);	0.000000	0.85682	D	0.000000	D	0.83487	0.5265	M	0.81497	2.545	0.80722	D	1	D	0.65815	0.995	D	0.65323	0.934	D	0.85786	0.1364	10	0.87932	D	0	-4.6501	14.4944	0.67674	0.0:0.0:0.0:1.0	.	263	Q9HD90	NDF4_HUMAN	V	263	ENSP00000242994:F263V	ENSP00000242994:F263V	F	+	1	0	NEUROD4	53707277	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	TTC	NEUROD4	-	pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD	ENSG00000123307		0.512	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD4	HGNC	protein_coding	OTTHUMT00000406104.1	-	0.00	68	0	T			55421010	+1	tier1	-	no_errors	ENST00000242994	ensembl	human	known	74_37	missense	14.55	47	8	SNP	1.000	G
NHLRC3	387921	genome.wustl.edu	37	13	39613842	39613842	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr13:39613842G>A	ENST00000379600.3	+	3	701	c.379G>A	c.(379-381)Gga>Aga	p.G127R	NHLRC3_ENST00000470258.1_5'UTR|NHLRC3_ENST00000379599.2_Missense_Mutation_p.G127R|PROSER1_ENST00000350125.3_5'Flank|PROSER1_ENST00000352251.3_5'Flank	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	127						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		CACGGATGTAGGAAGTGGTAT	0.363																																																	0													74.0	75.0	75.0					13																	39613842		2203	4300	6503	SO:0001583	missense	0				CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.379G>A	13.37:g.39613842G>A	ENSP00000368920:p.Gly127Arg		B2RTZ2|B4DTL0|Q69YI9	Missense_Mutation	SNP	pfam_NHL_repeat,pfscan_NHL_repeat_subgr	p.G127R	ENST00000379600.3	37	c.379	CCDS31961.1	13	.	.	.	.	.	.	.	.	.	.	G	32	5.185283	0.94885	.	.	ENSG00000188811	ENST00000379600;ENST00000379599;ENST00000537150	T;D	0.90069	0.96;-2.61	5.38	5.38	0.77491	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.94460	0.8217	M	0.79011	2.435	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	D	0.94043	0.7311	9	.	.	.	-16.437	18.4962	0.90865	0.0:0.0:1.0:0.0	.	127;127;127;127	B4DTL0;Q5JS37;B4DRC8;F5GZB5	.;NHLC3_HUMAN;.;.	R	127	ENSP00000368920:G127R;ENSP00000368919:G127R	.	G	+	1	0	NHLRC3	38511842	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.686000	0.98664	2.672000	0.90937	0.557000	0.71058	GGA	NHLRC3	-	NULL	ENSG00000188811		0.363	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLRC3	HGNC	protein_coding	OTTHUMT00000044616.2	-	0.00	99	0	G	NM_001012754		39613842	+1	tier1	-	no_errors	ENST00000379600	ensembl	human	known	74_37	missense	14.57	128	22	SNP	1.000	A
NIT1	4817	genome.wustl.edu	37	1	161088851	161088851	+	Intron	SNP	A	A	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:161088851A>T	ENST00000368009.2	+	3	174				NIT1_ENST00000496861.1_Intron|NIT1_ENST00000392190.5_Intron|NIT1_ENST00000368008.1_Intron|NIT1_ENST00000368007.4_Intron|PFDN2_ENST00000468311.1_5'Flank|PFDN2_ENST00000368010.3_5'Flank|DEDD_ENST00000489249.1_5'Flank	NM_005600.2	NP_005591.1	Q86X76	NIT1_HUMAN	nitrilase 1						nitrogen compound metabolic process (GO:0006807)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	nitrilase activity (GO:0000257)			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTGCCTCTCCACTTGCACCCC	0.498																																																	0																																										SO:0001627	intron_variant	0			AF069984	CCDS1218.1, CCDS53401.1, CCDS53402.1, CCDS53403.1	1q21-q22	2008-05-14			ENSG00000158793	ENSG00000158793			7828	protein-coding gene	gene with protein product		604618				9671749	Standard	NM_005600		Approved		uc001fxv.2	Q86X76	OTTHUMG00000031473	ENST00000368009.2:c.99-73A>T	1.37:g.161088851A>T			B1AQP3|D3DVF4|O76091	RNA	SNP	-	NULL	ENST00000368009.2	37	NULL	CCDS1218.1	1																																																																																			NIT1	-	-	ENSG00000158793		0.498	NIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIT1	HGNC	protein_coding	OTTHUMT00000077060.1	-	0.00	26	0	A			161088851	+1	tier1	-	no_errors	ENST00000461376	ensembl	human	known	74_37	rna	45.00	21	18	SNP	0.000	T
NKRF	55922	genome.wustl.edu	37	X	118723469	118723469	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chrX:118723469G>A	ENST00000371527.1	-	2	2571	c.1919C>T	c.(1918-1920)gCc>gTc	p.A640V	NKRF_ENST00000304449.5_Missense_Mutation_p.A640V|NKRF_ENST00000542113.1_Missense_Mutation_p.A655V|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	640	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						ATACTTCTGGGCAATCTGATG	0.463																																																	0													161.0	133.0	142.0					X																	118723469		2203	4300	6503	SO:0001583	missense	0			AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1919C>T	X.37:g.118723469G>A	ENSP00000360582:p.Ala640Val		G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_R3H_ss-bd,smart_dsRNA-bd_dom,smart_G_patch_dom,smart_R3H_ss-bd,pfscan_G_patch_dom,pfscan_R3H_ss-bd	p.A655V	ENST00000371527.1	37	c.1964	CCDS35375.1	X	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849019	0.71603	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.63580	-0.04;-0.04;-0.05	5.95	5.95	0.96441	Single-stranded nucleic acid binding R3H (3);	0.049186	0.85682	D	0.000000	T	0.73760	0.3628	L	0.49513	1.565	0.58432	D	0.999999	P	0.50819	0.939	P	0.60345	0.873	T	0.75291	-0.3369	10	0.87932	D	0	-10.6854	18.1367	0.89622	0.0:0.0:1.0:0.0	.	640	O15226	NKRF_HUMAN	V	640;640;655	ENSP00000360582:A640V;ENSP00000304803:A640V;ENSP00000442308:A655V	ENSP00000304803:A640V	A	-	2	0	NKRF	118607497	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.476000	0.97823	2.506000	0.84524	0.600000	0.82982	GCC	NKRF	-	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	ENSG00000186416		0.463	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKRF	HGNC	protein_coding	OTTHUMT00000058044.1	-	0.00	21	0	G	NM_017544		118723469	-1	tier1	-	no_errors	ENST00000542113	ensembl	human	known	74_37	missense	87.18	5	34	SNP	1.000	A
NLRC3	197358	genome.wustl.edu	37	16	3614982	3614982	+	RNA	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr16:3614982C>T	ENST00000301749.7	-	0	461				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGCTGGGGAGCCCGTACCGTG	0.672																																																	0													19.0	24.0	22.0					16																	3614982		1937	4132	6069			0			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3614982C>T			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.G66D	ENST00000301749.7	37	c.197		16	.	.	.	.	.	.	.	.	.	.	C	10.84	1.462899	0.26248	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	T;T;T;T	0.79845	-0.58;-0.62;-0.59;-1.31	4.96	3.94	0.45596	.	0.461058	0.22417	N	0.060324	T	0.69851	0.3157	.	.	.	0.20563	N	0.99989	B	0.13594	0.008	B	0.10450	0.005	T	0.62081	-0.6929	9	0.66056	D	0.02	.	7.7175	0.28712	0.1834:0.639:0.1776:0.0	.	66	C9JLH9	.	D	19;19;19;66;36	ENSP00000301749:G19D;ENSP00000352039:G19D;ENSP00000414415:G66D;ENSP00000323897:G36D	ENSP00000301749:G19D	G	-	2	0	NLRC3	3554983	0.108000	0.22018	0.927000	0.36925	0.402000	0.30811	1.274000	0.33132	2.320000	0.78422	0.650000	0.86243	GGC	NLRC3	-	NULL	ENSG00000167984		0.672	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene			0.00	17	0	C	NM_178844		3614982	-1			no_errors	ENST00000448023	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.590	T
NME8	51314	genome.wustl.edu	37	7	37896931	37896931	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:37896931T>A	ENST00000199447.4	+	6	626	c.254T>A	c.(253-255)gTt>gAt	p.V85D	EPDR1_ENST00000476620.1_5'UTR|NME8_ENST00000440017.1_Missense_Mutation_p.V85D	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	85	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TGTGAACCTGTTTTTCTCTTT	0.284																																																	0													103.0	105.0	104.0					7																	37896931		2203	4300	6503	SO:0001583	missense	0			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.254T>A	7.37:g.37896931T>A	ENSP00000199447:p.Val85Asp		Q9NZH1	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase	p.V85D	ENST00000199447.4	37	c.254	CCDS5452.1	7	.	.	.	.	.	.	.	.	.	.	T	17.06	3.292911	0.60086	.	.	ENSG00000086288	ENST00000199447;ENST00000455500;ENST00000444718;ENST00000440017	T;T	0.22743	1.94;1.94	5.65	5.65	0.86999	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.152135	0.30584	N	0.009315	T	0.33933	0.0880	L	0.59912	1.85	0.50813	D	0.999899	D	0.59357	0.985	P	0.61477	0.889	T	0.18871	-1.0323	10	0.52906	T	0.07	-10.6242	5.2679	0.15609	0.1574:0.0822:0.0:0.7604	.	85	Q8N427	TXND3_HUMAN	D	85;30;30;85	ENSP00000199447:V85D;ENSP00000397063:V85D	ENSP00000199447:V85D	V	+	2	0	TXNDC3	37863456	0.986000	0.35501	0.997000	0.53966	0.955000	0.61496	2.565000	0.45939	2.144000	0.66660	0.477000	0.44152	GTT	NME8	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000086288		0.284	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME8	HGNC	protein_coding	OTTHUMT00000219946.1	-	0.00	42	0	T	NM_016616		37896931	+1	tier1	-	no_errors	ENST00000199447	ensembl	human	known	74_37	missense	28.89	32	13	SNP	0.993	A
NUDT8	254552	genome.wustl.edu	37	11	67395621	67395621	+	Silent	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:67395621G>A	ENST00000376693.2	-	4	516	c.507C>T	c.(505-507)ccC>ccT	p.P169P	RP11-655M14.13_ENST00000533311.1_lincRNA|NUDT8_ENST00000301490.4_3'UTR	NM_001243750.1	NP_001230679.1	Q8WV74	NUDT8_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 8	169	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(1)|prostate(1)|skin(1)	4						GCAGGAAGACGGGTAGTGTGT	0.622																																																	0													76.0	75.0	75.0					11																	67395621		873	1985	2858	SO:0001819	synonymous_variant	0			AI743601	CCDS8174.1, CCDS58151.1	11q13.2	2008-07-21			ENSG00000167799	ENSG00000167799		"""Nudix motif containing"""	8055	protein-coding gene	gene with protein product						11415433	Standard	NM_181843		Approved	FLJ41567	uc001omo.2	Q8WV74	OTTHUMG00000167292	ENST00000376693.2:c.507C>T	11.37:g.67395621G>A			Q6ZW59	Silent	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.P169	ENST00000376693.2	37	c.507	CCDS58151.1	11																																																																																			NUDT8	-	superfamily_NUDIX_hydrolase_dom-like	ENSG00000167799		0.622	NUDT8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUDT8	HGNC	protein_coding	OTTHUMT00000394036.1	-	0.00	54	0	G	NM_181843		67395621	-1	tier1	-	no_errors	ENST00000376693	ensembl	human	known	74_37	silent	90.42	41	387	SNP	0.048	A
NOX4	50507	genome.wustl.edu	37	11	89224050	89224050	+	Intron	SNP	G	G	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:89224050G>T	ENST00000263317.4	-	1	296				NOX4_ENST00000343727.5_5'UTR|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000413594.2_Missense_Mutation_p.L31I|NOX4_ENST00000424319.1_Intron|NOX4_ENST00000527626.1_Intron|NOX4_ENST00000393282.2_Intron|NOX4_ENST00000542487.1_Intron|NOX4_ENST00000532825.1_Intron|NOX4_ENST00000527956.1_Intron|NOX4_ENST00000528341.1_5'Flank|NOX4_ENST00000535633.1_Intron|NOX4_ENST00000534731.1_Intron			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TCTGGGAAAAGAACAAAGGGA	0.393																																																	0																																										SO:0001627	intron_variant	0			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.57+307C>A	11.37:g.89224050G>T			A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.L31I	ENST00000263317.4	37	c.91	CCDS8285.1	11	.	.	.	.	.	.	.	.	.	.	G	15.04	2.713757	0.48622	.	.	ENSG00000086991	ENST00000413594	D	0.95103	-3.61	5.13	0.842	0.18927	.	.	.	.	.	D	0.88328	0.6407	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.78321	-0.2249	5	.	.	.	.	1.3826	0.02233	0.1968:0.1903:0.4464:0.1665	.	.	.	.	I	31	ENSP00000405705:L31I	.	L	-	1	0	NOX4	88863698	0.045000	0.20229	0.029000	0.17559	0.718000	0.41266	0.067000	0.14510	0.536000	0.28733	0.462000	0.41574	CTT	NOX4	-	NULL	ENSG00000086991		0.393	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX4	HGNC	protein_coding	OTTHUMT00000394054.1	-	0.00	19	0	G	NM_016931		89224050	-1	tier1	-	no_errors	ENST00000413594	ensembl	human	known	74_37	missense	100.00	0	4	SNP	0.009	T
NUP153	9972	genome.wustl.edu	37	6	17675153	17675153	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:17675153G>A	ENST00000262077.2	-	5	834	c.835C>T	c.(835-837)Cga>Tga	p.R279*	NUP153_ENST00000537253.1_Nonsense_Mutation_p.R279*	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	279					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GGTGTATTTCGTAGTTTAGAC	0.358																																																	0													133.0	121.0	125.0					6																	17675153		2203	4300	6503	SO:0001587	stop_gained	0			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.835C>T	6.37:g.17675153G>A	ENSP00000262077:p.Arg279*		B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Nonsense_Mutation	SNP	pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.R279*	ENST00000262077.2	37	c.835	CCDS4541.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.880949	0.97062	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	.	.	.	5.74	3.96	0.45880	.	0.509478	0.16507	N	0.211393	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.1543	15.2934	0.73885	0.0:0.0:0.7438:0.2562	.	.	.	.	X	279;301;279	.	ENSP00000262077:R279X	R	-	1	2	NUP153	17783132	0.953000	0.32496	0.038000	0.18304	0.836000	0.47400	5.091000	0.64505	0.780000	0.33566	-0.865000	0.03005	CGA	NUP153	-	pfam_Nucleoporin_Nup153	ENSG00000124789		0.358	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	-	0.00	115	0	G			17675153	-1	tier1	-	no_errors	ENST00000537253	ensembl	human	known	74_37	nonsense	13.59	89	14	SNP	0.338	A
NUP188	23511	genome.wustl.edu	37	9	131742885	131742885	+	Splice_Site	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr9:131742885G>A	ENST00000372577.2	+	14	1291	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	424					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCCACCACAGGAGCCAACTTC	0.463																																																	0													141.0	120.0	127.0					9																	131742885		2203	4300	6503	SO:0001630	splice_region_variant	0			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.1270-1G>A	9.37:g.131742885G>A			Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.E424K	ENST00000372577.2	37	c.1270	CCDS35156.1	9	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130892	0.56828	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.34859	1.34	5.54	5.54	0.83059	.	0.090883	0.85682	D	0.000000	T	0.24084	0.0583	N	0.12182	0.205	0.58432	D	0.999994	B	0.09022	0.002	B	0.15052	0.012	T	0.07195	-1.0785	9	.	.	.	-26.6329	18.8301	0.92135	0.0:0.0:1.0:0.0	.	424	Q5SRE5	NU188_HUMAN	K	313;424	ENSP00000361658:E424K	.	E	+	1	0	NUP188	130782706	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	7.337000	0.79256	2.764000	0.94973	0.655000	0.94253	GAG	NUP188	-	pfam_Nucleoporin_Nup188	ENSG00000095319		0.463	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	-	0.00	113	0	G		Missense_Mutation	131742885	+1	tier1	-	no_errors	ENST00000372577	ensembl	human	known	74_37	missense	8.55	107	10	SNP	1.000	A
OR52E8	390079	genome.wustl.edu	37	11	5878912	5878912	+	Silent	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:5878912C>T	ENST00000537935.1	-	1	52	c.21G>A	c.(19-21)acG>acA	p.T7T	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGATTAGACGTAGACATTC	0.418																																																	0													90.0	108.0	102.0					11																	5878912		2137	4296	6433	SO:0001819	synonymous_variant	0			BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.21G>A	11.37:g.5878912C>T			B9EH38	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T7	ENST00000537935.1	37	c.21	CCDS31400.1	11																																																																																			OR52E8	-	NULL	ENSG00000183269		0.418	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E8	HGNC	protein_coding	OTTHUMT00000401145.1	-	0.00	62	0	C	NM_001005168		5878912	-1	tier1	-	no_errors	ENST00000537935	ensembl	human	known	74_37	silent	81.25	6	26	SNP	0.000	T
OR4P4	81300	genome.wustl.edu	37	11	55406281	55406281	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:55406281G>T	ENST00000314612.2	+	1	448	c.448G>T	c.(448-450)Gga>Tga	p.G150*		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	150						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)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTGTACTGGGGGATTTATACA	0.428																																																	0													76.0	66.0	69.0					11																	55406281		2179	4007	6186	SO:0001587	stop_gained	0			AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.448G>T	11.37:g.55406281G>T	ENSP00000324831:p.Gly150*			Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G150*	ENST00000314612.2	37	c.448	CCDS31504.1	11	.	.	.	.	.	.	.	.	.	.	G	8.088	0.773944	0.16051	.	.	ENSG00000181927	ENST00000314612	.	.	.	4.84	3.93	0.45458	.	0.389621	0.18820	N	0.130276	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.1884	11.9185	0.52779	0.085:0.0:0.915:0.0	.	.	.	.	X	150	.	ENSP00000324831:G150X	G	+	1	0	OR4P4	55162857	0.000000	0.05858	0.013000	0.15412	0.001000	0.01503	-0.098000	0.11024	1.256000	0.44068	-0.154000	0.13518	GGA	OR4P4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181927		0.428	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4P4	HGNC	protein_coding	OTTHUMT00000383356.1	-	0.00	52	0	G	NM_001004124		55406281	+1	tier1	-	no_errors	ENST00000314612	ensembl	human	known	74_37	nonsense	94.12	2	32	SNP	0.565	T
OR5L2	26338	genome.wustl.edu	37	11	55595135	55595135	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:55595135C>A	ENST00000378397.1	+	1	441	c.441C>A	c.(439-441)tgC>tgA	p.C147*		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGACCTCTTGCTGCTACTTCT	0.502										HNSCC(27;0.073)																																							0													217.0	184.0	195.0					11																	55595135		2200	4296	6496	SO:0001587	stop_gained	0			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.441C>A	11.37:g.55595135C>A	ENSP00000367650:p.Cys147*		Q6IF66|Q96RB2	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C147*	ENST00000378397.1	37	c.441	CCDS31511.1	11	.	.	.	.	.	.	.	.	.	.	.	5.684	0.310736	0.10733	.	.	ENSG00000205030	ENST00000378397	.	.	.	5.18	-1.73	0.08081	.	0.381500	0.22172	N	0.063627	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-1.7892	2.6125	0.04895	0.112:0.3481:0.3226:0.2172	.	.	.	.	X	147	.	ENSP00000367650:C147X	C	+	3	2	OR5L2	55351711	0.000000	0.05858	0.371000	0.25978	0.049000	0.14656	-2.636000	0.00867	0.029000	0.15352	0.626000	0.83405	TGC	OR5L2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000205030		0.502	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1	-	0.00	62	0	C	NM_001004739		55595135	+1	tier1	-	no_errors	ENST00000378397	ensembl	human	known	74_37	nonsense	36.17	30	17	SNP	0.010	A
OTOF	9381	genome.wustl.edu	37	2	26698861	26698861	+	Missense_Mutation	SNP	C	C	A	rs397515596		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr2:26698861C>A	ENST00000272371.2	-	24	3038	c.2912G>T	c.(2911-2913)aGc>aTc	p.S971I	OTOF_ENST00000403946.3_Missense_Mutation_p.S971I|OTOF_ENST00000338581.6_Missense_Mutation_p.S224I|OTOF_ENST00000339598.3_Missense_Mutation_p.S224I|OTOF_ENST00000402415.3_Missense_Mutation_p.S281I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	971	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAAAGAGGCTGCGGGCCTG	0.652																																					GBM(102;732 1451 20652 24062 31372)												0													43.0	39.0	40.0					2																	26698861		2201	4295	6496	SO:0001583	missense	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2912G>T	2.37:g.26698861C>A	ENSP00000272371:p.Ser971Ile		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.S971I	ENST00000272371.2	37	c.2912	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	C	27.9	4.877370	0.91664	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.41	5.41	0.78517	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.81460	0.4827	M	0.72576	2.205	0.80722	D	1	D;P;D;D	0.89917	1.0;0.916;1.0;0.995	D;P;D;D	0.77004	0.989;0.583;0.988;0.974	T	0.81174	-0.1053	10	0.46703	T	0.11	-41.4175	18.7824	0.91939	0.0:1.0:0.0:0.0	.	971;224;281;224	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	I	224;224;281;971;971	ENSP00000345137:S224I;ENSP00000344521:S224I;ENSP00000383906:S281I;ENSP00000272371:S971I;ENSP00000385255:S971I	ENSP00000272371:S971I	S	-	2	0	OTOF	26552365	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	6.017000	0.70805	2.546000	0.85860	0.561000	0.74099	AGC	OTOF	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000115155		0.652	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	-	0.00	99	0	C			26698861	-1	tier1	-	no_errors	ENST00000272371	ensembl	human	known	74_37	missense	26.32	84	30	SNP	1.000	A
OTOG	340990	genome.wustl.edu	37	11	17634199	17634199	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:17634199G>A	ENST00000399391.2	+	37	6361	c.6361G>A	c.(6361-6363)Gtg>Atg	p.V2121M	OTOG_ENST00000342528.2_Missense_Mutation_p.V1127M|OTOG_ENST00000399397.1_Missense_Mutation_p.V2048M	NM_001277269.1	NP_001264198.1	Q6ZRI0	OTOG_HUMAN	otogelin	2121	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.			V -> A (in Ref. 1; BAC87330). {ECO:0000305}.	adult locomotory behavior (GO:0008344)|L-arabinose metabolic process (GO:0046373)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	alpha-L-arabinofuranosidase activity (GO:0046556)|structural molecule activity (GO:0005198)			breast(3)|central_nervous_system(1)|lung(1)|skin(1)	6						CCTGAGCTTCGTGACCTTCGA	0.572																																																	0																																										SO:0001583	missense	0			AK128214	CCDS59225.1	11p14.3	2014-07-17			ENSG00000188162	ENSG00000188162			8516	protein-coding gene	gene with protein product		604487				9405633	Standard	NM_001277269		Approved	mlemp, OTGN, FLJ46346	uc031pzc.1	Q6ZRI0	OTTHUMG00000149905	ENST00000399391.2:c.6361G>A	11.37:g.17634199G>A	ENSP00000382323:p.Val2121Met		A8MTX6|A8MUJ0|B7WPC4	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom	p.V2121M	ENST00000399391.2	37	c.6361	CCDS59225.1	11	.	.	.	.	.	.	.	.	.	.	G	18.34	3.601840	0.66445	.	.	ENSG00000188162	ENST00000399391;ENST00000399397;ENST00000342528	T;T;T	0.60424	0.19;0.19;0.19	5.58	4.67	0.58626	.	0.171345	0.39909	N	0.001226	T	0.68997	0.3062	M	0.72118	2.19	0.25275	N	0.989488	D	0.67145	0.996	P	0.58721	0.844	T	0.63225	-0.6685	10	0.44086	T	0.13	.	12.4189	0.55510	0.0822:0.0:0.9178:0.0	.	1127	Q6ZRI0-2	.	M	2121;2048;1127	ENSP00000382323:V2121M;ENSP00000382329:V2048M;ENSP00000341666:V1127M	ENSP00000341666:V1127M	V	+	1	0	OTOG	17590775	0.994000	0.37717	0.938000	0.37757	0.889000	0.51656	2.507000	0.45442	1.349000	0.45751	0.563000	0.77884	GTG	OTOG	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000188162		0.572	OTOG-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOG	HGNC	protein_coding		-	0.00	77	0	G			17634199	+1	tier1	-	no_errors	ENST00000399391	ensembl	human	known	74_37	missense	84.21	6	32	SNP	0.979	A
PATL2	197135	genome.wustl.edu	37	15	44961491	44961491	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr15:44961491G>A	ENST00000560775.1	-	10	1110	c.1051C>T	c.(1051-1053)Cag>Tag	p.Q351*	PATL2_ENST00000560780.1_Nonsense_Mutation_p.Q162*|PATL2_ENST00000434130.1_Nonsense_Mutation_p.Q351*			C9JE40	PATL2_HUMAN	protein associated with topoisomerase II homolog 2 (yeast)	351					negative regulation of cytoplasmic mRNA processing body assembly (GO:0010607)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	RNA binding (GO:0003723)			kidney(2)|stomach(1)	3						AGGTTGTTCTGCTCCTGGGTC	0.542																																																	0													49.0	47.0	48.0					15																	44961491		687	1589	2276	SO:0001587	stop_gained	0			BC036924	CCDS45253.1	15q21.1	2010-06-04			ENSG00000229474	ENSG00000229474			33630	protein-coding gene	gene with protein product		614661				17936923	Standard	NM_001145112		Approved		uc010uej.2	C9JE40		ENST00000560775.1:c.1051C>T	15.37:g.44961491G>A	ENSP00000453915:p.Gln351*			Nonsense_Mutation	SNP	pfam_Topo_II-assoc_PAT1	p.Q351*	ENST00000560775.1	37	c.1051	CCDS45253.1	15	.	.	.	.	.	.	.	.	.	.	G	40	7.946072	0.98574	.	.	ENSG00000229474	ENST00000434130	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-15.8856	15.0913	0.72195	0.0:0.0:1.0:0.0	.	.	.	.	X	351	.	ENSP00000416673:Q351X	Q	-	1	0	PATL2	42748783	0.969000	0.33509	1.000000	0.80357	0.837000	0.47467	1.644000	0.37228	2.632000	0.89209	0.655000	0.94253	CAG	PATL2	-	pfam_Topo_II-assoc_PAT1	ENSG00000229474		0.542	PATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATL2	HGNC	protein_coding	OTTHUMT00000415947.1		0.00	36	0	G	NM_001145112		44961491	-1			no_errors	ENST00000434130	ensembl	human	known	74_37	nonsense	18.60	35	8	SNP	0.999	A
PCGF2	7703	genome.wustl.edu	37	17	36892390	36892391	+	Missense_Mutation	DNP	CC	CC	TA			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr17:36892390_36892391CC>TA	ENST00000580830.1	-	11	1310_1311	c.609_610GG>TA	c.(607-612)aaGGaa>aaTAaa	p.203_204KE>NK	PCGF2_ENST00000360797.2_Missense_Mutation_p.203_204KE>NK|PCGF2_ENST00000578109.1_Nonsense_Mutation_p.G151*|PCGF2_ENST00000581345.1_Missense_Mutation_p.203_204KE>NK|PCGF2_ENST00000585100.1_Nonsense_Mutation_p.G205*|PCGF2_ENST00000579882.1_Nonsense_Mutation_p.G205*			P35227	PCGF2_HUMAN	polycomb group ring finger 2	203					anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					GTGTAGTATTCCTTCAGTGGCT	0.649																																																	0																																										SO:0001583	missense	0			D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	12929	protein-coding gene	gene with protein product		600346	"""ring finger protein 110"""	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.609_610delinsTA	17.37:g.36892390_36892391delinsTA	ENSP00000461961:p.K203_E204delinsNK		A6NGD8	Missense_Mutation|Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E204K|p.G205*	ENST00000580830.1	37	c.610|c.613	CCDS32638.1	17																																																																																			PCGF2	-	NULL	ENSG00000056661		0.649	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF2	HGNC	protein_coding	OTTHUMT00000442246.2	-	0.00	29	0	C	NM_007144		36892390|36892391	-1	tier1	-	no_errors	ENST00000360797|ENST00000579882	ensembl	human	known|putative	74_37	missense|nonsense	36.21	37	21	SNP	1.000	T|A
PCOLCE2	26577	genome.wustl.edu	37	3	142561781	142561781	+	Silent	SNP	T	T	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr3:142561781T>A	ENST00000295992.3	-	4	864	c.558A>T	c.(556-558)gtA>gtT	p.V186V	PCOLCE2_ENST00000485766.1_Silent_p.V186V	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	186	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TCTTTGGGGCTACAATGTGCC	0.532																																																	0													85.0	79.0	81.0					3																	142561781		2203	4300	6503	SO:0001819	synonymous_variant	0			AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.558A>T	3.37:g.142561781T>A			B2RCH9|D3DNG4|Q9BRH3	Silent	SNP	pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain	p.V186	ENST00000295992.3	37	c.558	CCDS3127.1	3																																																																																			PCOLCE2	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000163710		0.532	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCOLCE2	HGNC	protein_coding	OTTHUMT00000354509.1	-	0.00	63	0	T	NM_013363		142561781	-1	tier1	-	no_errors	ENST00000295992	ensembl	human	known	74_37	silent	20.99	64	17	SNP	0.992	A
PFKFB1	5207	genome.wustl.edu	37	X	54961428	54961428	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chrX:54961428G>T	ENST00000375006.3	-	12	1313	c.1243C>A	c.(1243-1245)Ctc>Atc	p.L415I	PFKFB1_ENST00000545676.1_Missense_Mutation_p.L350I|PFKFB1_ENST00000374992.2_Missense_Mutation_p.L215I	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	415	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GGGCACTTGAGATATGGAAGC	0.557																																																	0													101.0	69.0	80.0					X																	54961428		2203	4300	6503	SO:0001583	missense	0				CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.1243C>A	X.37:g.54961428G>T	ENSP00000364145:p.Leu415Ile		B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.L415I	ENST00000375006.3	37	c.1243	CCDS14364.1	X	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482419	0.44147	.	.	ENSG00000158571	ENST00000375006;ENST00000545676;ENST00000374992	.	.	.	4.29	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.54159	0.1841	L	0.37507	1.11	0.80722	D	1	B;B;B	0.19706	0.003;0.038;0.021	B;B;B	0.28385	0.025;0.089;0.05	T	0.51212	-0.8734	9	0.29301	T	0.29	-10.7098	15.1208	0.72441	0.0:0.0:1.0:0.0	.	350;215;415	B4DUN5;Q4VBA9;P16118	.;.;F261_HUMAN	I	415;350;215	.	ENSP00000364131:L215I	L	-	1	0	PFKFB1	54978153	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	6.409000	0.73289	1.889000	0.54706	0.597000	0.82753	CTC	PFKFB1	-	pirsf_Bifunct_6PFK/fruc_bisP_Ptase	ENSG00000158571		0.557	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKFB1	HGNC	protein_coding	OTTHUMT00000056847.1	-	0.00	33	0	G			54961428	-1	tier1	-	no_errors	ENST00000375006	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T
PHTF1	10745	genome.wustl.edu	37	1	114269063	114269063	+	Silent	SNP	T	T	C	rs150320233		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:114269063T>C	ENST00000369604.1	-	6	948	c.465A>G	c.(463-465)ggA>ggG	p.G155G	PHTF1_ENST00000369598.1_Silent_p.G155G|PHTF1_ENST00000357783.2_Silent_p.G155G|PHTF1_ENST00000447664.2_Silent_p.G155G|PHTF1_ENST00000369600.1_Silent_p.G102G|PHTF1_ENST00000369596.2_Silent_p.G102G|PHTF1_ENST00000393357.2_Silent_p.G155G			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	155					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCCATTGTTTCCTGATGGTC	0.358																																																	0													166.0	140.0	149.0					1																	114269063		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.465A>G	1.37:g.114269063T>C			Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Silent	SNP	pfam_TF_homeodomain_male	p.G155	ENST00000369604.1	37	c.465	CCDS861.1	1																																																																																			PHTF1	-	pfam_TF_homeodomain_male	ENSG00000116793		0.358	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHTF1	HGNC	protein_coding	OTTHUMT00000032666.1	-	0.00	62	0	T	NM_006608		114269063	-1	tier1	-	no_errors	ENST00000369604	ensembl	human	known	74_37	silent	74.07	7	20	SNP	0.994	C
PI4KA	5297	genome.wustl.edu	37	22	21157593	21157593	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr22:21157593A>T	ENST00000572273.1	-	13	1533	c.1303T>A	c.(1303-1305)Tgc>Agc	p.C435S	PI4KA_ENST00000255882.6_Missense_Mutation_p.C493S			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	435					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AACCTCTCGCACAGGCGGCCC	0.587																																					GBM(136;1332 1831 3115 23601 50806)												0													136.0	106.0	116.0					22																	21157593		2203	4300	6503	SO:0001583	missense	0			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.1303T>A	22.37:g.21157593A>T	ENSP00000458238:p.Cys435Ser		Q7Z625|Q9UPG2	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.C493S	ENST00000572273.1	37	c.1477		22	.	.	.	.	.	.	.	.	.	.	A	18.87	3.715576	0.68844	.	.	ENSG00000241973	ENST00000255882	T	0.32988	1.43	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.21841	0.0526	N	0.19112	0.55	0.80722	D	1	B;B	0.19935	0.04;0.039	B;B	0.22753	0.041;0.018	T	0.04467	-1.0949	10	0.28530	T	0.3	-17.7332	14.6457	0.68759	1.0:0.0:0.0:0.0	.	493;435	D3DX33;P42356	.;PI4KA_HUMAN	S	435	ENSP00000255882:C435S	ENSP00000255882:C435S	C	-	1	0	PI4KA	19487593	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.129000	0.94430	2.047000	0.60756	0.402000	0.26972	TGC	PI4KA	-	superfamily_ARM-type_fold	ENSG00000241973		0.587	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		-	0.00	71	0	A	NM_058004		21157593	-1	tier1	-	no_errors	ENST00000255882	ensembl	human	known	74_37	missense	15.48	71	13	SNP	1.000	T
PIEZO1	9780	genome.wustl.edu	37	16	88787614	88787614	+	Silent	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr16:88787614C>T	ENST00000301015.9	-	39	5874	c.5628G>A	c.(5626-5628)agG>agA	p.R1876R	RP5-1142A6.9_ENST00000564984.1_RNA|PIEZO1_ENST00000327397.7_5'Flank	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	1876					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						CCTCCTTCTTCCTTCTTCTAA	0.607																																																	0													32.0	32.0	32.0					16																	88787614		691	1584	2275	SO:0001819	synonymous_variant	0			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.5628G>A	16.37:g.88787614C>T			A6NHT9|A7E2B7|Q0KKZ9	Silent	SNP	pfam_Piezo	p.R1876	ENST00000301015.9	37	c.5628	CCDS54058.1	16	.	.	.	.	.	.	.	.	.	.	C	0.731	-0.779812	0.02929	.	.	ENSG00000103335	ENST00000451779	.	.	.	4.63	1.54	0.23209	.	.	.	.	.	T	0.32823	0.0842	.	.	.	0.19300	N	0.999976	.	.	.	.	.	.	T	0.23619	-1.0183	4	.	.	.	-17.7773	7.6862	0.28542	0.0:0.6453:0.0:0.3547	.	.	.	.	K	1822	.	.	E	-	1	0	FAM38A	87315115	0.000000	0.05858	0.004000	0.12327	0.015000	0.08874	-0.255000	0.08769	0.135000	0.18707	0.448000	0.29417	GAA	PIEZO1	-	NULL	ENSG00000103335		0.607	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	PIEZO1	HGNC	protein_coding	OTTHUMT00000345699.4		0.00	80	0	C	NM_014745		88787614	-1			no_errors	ENST00000301015	ensembl	human	novel	74_37	silent	8.06	57	5	SNP	0.190	T
LRRC7	57554	genome.wustl.edu	37	1	70385058	70385058	+	Intron	SNP	C	C	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:70385058C>A	ENST00000035383.5	+	6	563				PIN1P1_ENST00000412108.1_RNA|LRRC7_ENST00000310961.5_Intron|LRRC7_ENST00000415775.2_Intron	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7							cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CGAGGAGAAACTGCCGCCTGG	0.507																																																	0																																										SO:0001627	intron_variant	0				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.534-12132C>A	1.37:g.70385058C>A			Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	RNA	SNP	-	NULL	ENST00000035383.5	37	NULL	CCDS645.1	1																																																																																			PIN1P1	-	-	ENSG00000229359		0.507	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIN1P1	HGNC	protein_coding	OTTHUMT00000131261.1	-	0.00	85	0	C	NM_020794		70385058	+1	tier1	-	no_errors	ENST00000412108	ensembl	human	known	74_37	rna	31.03	40	18	SNP	0.646	A
PLCE1	51196	genome.wustl.edu	37	10	96039597	96039597	+	Missense_Mutation	SNP	G	G	A	rs2274224	byFrequency	TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr10:96039597G>A	ENST00000371380.3	+	19	4959	c.4724G>A	c.(4723-4725)cGa>cAa	p.R1575Q	PLCE1_ENST00000371385.3_Missense_Mutation_p.R1267Q|PLCE1-AS1_ENST00000425267.3_RNA|PLCE1-AS1_ENST00000596633.1_RNA|PLCE1_ENST00000371375.1_Missense_Mutation_p.R1267Q|PLCE1_ENST00000260766.3_Missense_Mutation_p.R1575Q			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1575			R -> P (in dbSNP:rs2274224).	R -> Q (in Ref. 2; AAG28341). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCCAACCCCCGACCTGCCAAT	0.423											OREG0020383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													82.0	86.0	85.0					10																	96039597		1894	4112	6006	SO:0001583	missense	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.4724G>A	10.37:g.96039597G>A	ENSP00000360431:p.Arg1575Gln	1317	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.R1575Q	ENST00000371380.3	37	c.4724	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380826	0.82792	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.22945	1.94;1.94;1.93;1.93	5.53	4.64	0.57946	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.611593	0.17706	N	0.164757	T	0.11452	0.0279	N	0.08118	0	0.80722	P	0.0	B;B;B	0.15473	0.013;0.006;0.013	B;B;B	0.04013	0.001;0.001;0.001	T	0.20240	-1.0281	9	0.18276	T	0.48	.	6.471	0.22007	0.1357:0.664:0.1307:0.0695	.	1559;1267;1575	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	Q	1575;1575;1267;1267	ENSP00000260766:R1575Q;ENSP00000360431:R1575Q;ENSP00000360438:R1267Q;ENSP00000360426:R1267Q	ENSP00000260766:R1575Q	R	+	2	0	PLCE1	96029587	0.000000	0.05858	0.998000	0.56505	0.819000	0.46315	0.795000	0.26972	0.920000	0.36970	-0.738000	0.03535	CGA	PLCE1	-	superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000138193		0.423	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	-	0.00	68	0	G	NM_016341		96039597	+1	tier1	-	no_errors	ENST00000260766	ensembl	human	known	74_37	missense	18.92	60	14	SNP	0.467	A
PLCH1	23007	genome.wustl.edu	37	3	155198837	155198837	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr3:155198837A>T	ENST00000340059.7	-	23	5001	c.5002T>A	c.(5002-5004)Ttt>Att	p.F1668I	PLCH1_ENST00000460012.1_Missense_Mutation_p.F1630I|PLCH1_ENST00000334686.6_Missense_Mutation_p.F1630I|PLCH1_ENST00000414191.1_Missense_Mutation_p.F1630I|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1668					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCTGAACAAAACTGGTCAACG	0.463																																																	0													44.0	48.0	46.0					3																	155198837		2203	4300	6503	SO:0001583	missense	0			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.5002T>A	3.37:g.155198837A>T	ENSP00000345988:p.Phe1668Ile		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.F1668I	ENST00000340059.7	37	c.5002	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	A	8.309	0.821742	0.16678	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.26	-0.0536	0.13817	.	2.179030	0.01588	N	0.021398	T	0.19046	0.0457	L	0.28740	0.885	0.09310	N	0.999999	B;B	0.23377	0.084;0.024	B;B	0.21917	0.037;0.007	T	0.14254	-1.0479	10	0.25106	T	0.35	.	5.3051	0.15799	0.477:0.0:0.3849:0.1381	.	1630;1668	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	I	1630;1668;1630;1630	ENSP00000417502:F1630I;ENSP00000345988:F1668I;ENSP00000335469:F1630I;ENSP00000412977:F1630I	ENSP00000335469:F1630I	F	-	1	0	PLCH1	156681531	0.402000	0.25311	0.007000	0.13788	0.389000	0.30415	3.106000	0.50322	0.037000	0.15575	-0.250000	0.11733	TTT	PLCH1	-	NULL	ENSG00000114805		0.463	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	-	0.00	80	0	A	NM_014996		155198837	-1	tier1	-	no_errors	ENST00000340059	ensembl	human	known	74_37	missense	17.54	47	10	SNP	0.049	T
PLEKHA6	22874	genome.wustl.edu	37	1	204192692	204192692	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:204192692G>T	ENST00000272203.3	-	22	3369	c.3053C>A	c.(3052-3054)cCt>cAt	p.P1018H	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.P1038H	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	1018										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGAGGTGGGAGGGCTTGGGGT	0.647																																																	0													15.0	15.0	15.0					1																	204192692		2038	3968	6006	SO:0001583	missense	0			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.3053C>A	1.37:g.204192692G>T	ENSP00000272203:p.Pro1018His		A7MD51|Q5VTI6	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P1018H	ENST00000272203.3	37	c.3053	CCDS1444.1	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350779	0.82132	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.12672	2.66;3.12	4.72	4.72	0.59763	.	0.076370	0.51477	D	0.000088	T	0.29524	0.0736	L	0.40543	1.245	0.53005	D	0.999963	D	0.89917	1.0	D	0.83275	0.996	T	0.02333	-1.1175	10	0.87932	D	0	-7.0819	15.8456	0.78887	0.0:0.0:1.0:0.0	.	1018	Q9Y2H5	PKHA6_HUMAN	H	1018;1038	ENSP00000272203:P1018H;ENSP00000402046:P1038H	ENSP00000272203:P1018H	P	-	2	0	PLEKHA6	202459315	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.258000	0.78371	2.335000	0.79485	0.555000	0.69702	CCT	PLEKHA6	-	NULL	ENSG00000143850		0.647	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA6	HGNC	protein_coding	OTTHUMT00000087889.3	-	0.00	119	0	G	NM_014935		204192692	-1	tier1	-	no_errors	ENST00000272203	ensembl	human	known	74_37	missense	59.40	54	79	SNP	1.000	T
PLXDC1	57125	genome.wustl.edu	37	17	37288207	37288207	+	Intron	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr17:37288207G>A	ENST00000315392.4	-	2	467				PLXDC1_ENST00000539608.1_Intron|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Intron|PLXDC1_ENST00000394316.2_Intron	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1						angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGTCTTGGATGATGGGGTCCC	0.557																																																	0																																										SO:0001627	intron_variant	0			AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.255+7699C>T	17.37:g.37288207G>A			B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	RNA	SNP	-	NULL	ENST00000315392.4	37	NULL	CCDS11333.1	17																																																																																			PLXDC1	-	-	ENSG00000161381		0.557	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXDC1	HGNC	protein_coding	OTTHUMT00000256892.2	-	0.00	71	0	G	NM_020405		37288207	-1	tier1	-	no_errors	ENST00000493200	ensembl	human	known	74_37	rna	86.99	152	1023	SNP	0.008	A
PLXDC1	57125	genome.wustl.edu	37	17	37288288	37288288	+	Intron	SNP	G	G	A	rs201621484		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr17:37288288G>A	ENST00000315392.4	-	2	467				PLXDC1_ENST00000539608.1_Intron|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Intron|PLXDC1_ENST00000394316.2_Intron	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1						angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGTTTTGCTTGAGCCAGAGAA	0.567																																																	0																																										SO:0001627	intron_variant	0			AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.255+7618C>T	17.37:g.37288288G>A			B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	RNA	SNP	-	NULL	ENST00000315392.4	37	NULL	CCDS11333.1	17																																																																																			PLXDC1	-	-	ENSG00000161381		0.567	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXDC1	HGNC	protein_coding	OTTHUMT00000256892.2	-	0.00	65	0	G	NM_020405		37288288	-1	tier1	rs201621484	no_errors	ENST00000493200	ensembl	human	known	74_37	rna	86.47	141	901	SNP	0.008	A
PLXDC1	57125	genome.wustl.edu	37	17	37309219	37309219	+	5'Flank	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr17:37309219C>T	ENST00000315392.4	-	0	0				PLXDC1_ENST00000539608.1_5'UTR|PLXDC1_ENST00000444911.2_5'Flank|PLXDC1_ENST00000394316.2_5'Flank	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1						angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTCTTGATGTCTAATTTAAAT	0.542											OREG0024369	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001631	upstream_gene_variant	0			AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183		17.37:g.37309219C>T	Exception_encountered	869	B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	RNA	SNP	-	NULL	ENST00000315392.4	37	NULL	CCDS11333.1	17																																																																																			PLXDC1	-	-	ENSG00000161381		0.542	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXDC1	HGNC	protein_coding	OTTHUMT00000256892.2	-	0.00	58	0	C	NM_020405		37309219	-1	tier1	-	no_errors	ENST00000577941	ensembl	human	known	74_37	rna	81.35	119	519	SNP	0.001	T
PLXNA4	91584	genome.wustl.edu	37	7	131825389	131825389	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:131825389C>T	ENST00000359827.3	-	30	6369	c.5407G>A	c.(5407-5409)Gac>Aac	p.D1803N	PLXNA4_ENST00000321063.4_Missense_Mutation_p.D1803N			Q9HCM2	PLXA4_HUMAN	plexin A4	1803					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTGGGGATGTCCTTGGCATAC	0.602																																																	0													87.0	86.0	86.0					7																	131825389		2203	4300	6503	SO:0001583	missense	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5407G>A	7.37:g.131825389C>T	ENSP00000352882:p.Asp1803Asn		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.D1803N	ENST00000359827.3	37	c.5407	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.745944	0.96882	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.16196	2.36;2.36	5.11	5.11	0.69529	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.099034	0.64402	D	0.000002	T	0.53818	0.1820	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67142	-0.5745	10	0.87932	D	0	.	18.5342	0.91004	0.0:1.0:0.0:0.0	.	1803	Q9HCM2	PLXA4_HUMAN	N	1803	ENSP00000323194:D1803N;ENSP00000352882:D1803N	ENSP00000323194:D1803N	D	-	1	0	PLXNA4	131475929	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.367000	0.80283	0.591000	0.81541	GAC	PLXNA4	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000221866		0.602	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	-	0.00	116	0	C	NM_181775		131825389	-1	tier1	-	no_errors	ENST00000321063	ensembl	human	known	74_37	missense	41.77	46	33	SNP	1.000	T
PNISR	25957	genome.wustl.edu	37	6	99849058	99849058	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:99849058T>G	ENST00000369239.5	-	12	1980	c.1776A>C	c.(1774-1776)agA>agC	p.R592S	PNISR_ENST00000438806.1_Missense_Mutation_p.R592S	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	592						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TCCTTCTATCTCTAATCTTTA	0.418																																																	0													111.0	113.0	112.0					6																	99849058		2203	4300	6503	SO:0001583	missense	0			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.1776A>C	6.37:g.99849058T>G	ENSP00000358242:p.Arg592Ser		A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	NULL	p.R592S	ENST00000369239.5	37	c.1776	CCDS5043.1	6	.	.	.	.	.	.	.	.	.	.	T	10.94	1.492859	0.26774	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	.	.	.	5.49	3.09	0.35607	.	0.081755	0.85682	D	0.000000	T	0.10594	0.0259	N	0.11201	0.11	0.54753	D	0.999983	B	0.16802	0.019	B	0.15484	0.013	T	0.12863	-1.0531	9	0.13853	T	0.58	.	4.4302	0.11524	0.1369:0.2375:0.0:0.6257	.	592	Q8TF01	PNISR_HUMAN	S	592	.	ENSP00000358242:R592S	R	-	3	2	PNISR	99955779	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	1.168000	0.31859	0.469000	0.27268	0.472000	0.43445	AGA	PNISR	-	NULL	ENSG00000132424		0.418	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PNISR	HGNC	protein_coding	OTTHUMT00000041598.1	-	0.00	58	0	T	NM_032870		99849058	-1	tier1	-	no_errors	ENST00000369239	ensembl	human	known	74_37	missense	46.15	21	18	SNP	1.000	G
POTEH	23784	genome.wustl.edu	37	22	16277955	16277955	+	Intron	SNP	A	A	G	rs4819442		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr22:16277955A>G	ENST00000343518.6	-	5	1080				POTEH-AS1_ENST00000422014.1_RNA|RNU6-816P_ENST00000390914.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H											NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTACCAATTTAACATCTTGCC	0.338																																																	0																																										SO:0001627	intron_variant	0			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1029-70T>C	22.37:g.16277955A>G			A2CEK4|A6NCI1|A9Z1W0	RNA	SNP	-	NULL	ENST00000343518.6	37	NULL	CCDS46658.1	22																																																																																			POTEH-AS1	-	-	ENSG00000236666		0.338	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEH-AS1	HGNC	protein_coding	OTTHUMT00000276918.4	-	0.00	24	0	A	NM_001136213		16277955	+1	tier1	-	no_errors	ENST00000422014	ensembl	human	known	74_37	rna	30.00	7	3	SNP	0.004	G
POU6F2	11281	genome.wustl.edu	37	7	39379547	39379547	+	Missense_Mutation	SNP	C	C	T	rs144939808	byFrequency	TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:39379547C>T	ENST00000403058.1	+	6	972	c.818C>T	c.(817-819)cCg>cTg	p.P273L	POU6F2_ENST00000559001.1_Missense_Mutation_p.P265L|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000518318.2_Missense_Mutation_p.P273L	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	273	Gln-rich.|Pro-rich.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						tccagccccCCGCAGAAACCT	0.627																																																	0								C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	116.0	130.0	125.0		818,818	3.8	1.0	7	dbSNP_134	125	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	POU6F2	NM_001166018.1,NM_007252.3	98,98	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging	273/656,273/692	39379547	3,13003	2203	4300	6503	SO:0001583	missense	0			U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.818C>T	7.37:g.39379547C>T	ENSP00000384004:p.Pro273Leu		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.P273L	ENST00000403058.1	37	c.818	CCDS34620.2	7	.	.	.	.	.	.	.	.	.	.	C	15.07	2.722810	0.48728	0.0	3.49E-4	ENSG00000106536	ENST00000403058;ENST00000518318	T;D	0.85702	0.99;-2.02	4.66	3.76	0.43208	.	2586.510000	0.00166	N	0.000001	D	0.86016	0.5832	L	0.55481	1.735	0.46678	D	0.999155	P;P	0.45011	0.848;0.725	B;B	0.41619	0.361;0.074	T	0.71580	-0.4550	10	0.49607	T	0.09	.	13.9533	0.64131	0.1534:0.8466:0.0:0.0	.	273;273	P78424-2;P78424	.;PO6F2_HUMAN	L	273	ENSP00000384004:P273L;ENSP00000430514:P273L	ENSP00000384004:P273L	P	+	2	0	POU6F2	39346072	1.000000	0.71417	0.992000	0.48379	0.949000	0.60115	5.936000	0.70153	0.916000	0.36871	0.557000	0.71058	CCG	POU6F2	-	NULL	ENSG00000106536		0.627	POU6F2-002	KNOWN	basic|CCDS	protein_coding	POU6F2	HGNC	protein_coding	OTTHUMT00000320146.3	-	0.00	55	0	C	NM_007252		39379547	+1	tier1	rs144939808	no_errors	ENST00000403058	ensembl	human	known	74_37	missense	62.64	34	57	SNP	1.000	T
PRAMEF2	65122	genome.wustl.edu	37	1	12918962	12918962	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:12918962G>A	ENST00000240189.2	+	2	185	c.98G>A	c.(97-99)aGg>aAg	p.R33K		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	33			R -> S (in dbSNP:rs9661554).		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)		GAGCTGCCCAGGGTGCTCTAT	0.622																																																	0													99.0	108.0	105.0					1																	12918962		2201	4296	6497	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.98G>A	1.37:g.12918962G>A	ENSP00000240189:p.Arg33Lys			Missense_Mutation	SNP	NULL	p.R33K	ENST00000240189.2	37	c.98	CCDS149.1	1	.	.	.	.	.	.	.	.	.	.	g	0.006	-2.107516	0.00356	.	.	ENSG00000120952	ENST00000240189	T	0.04603	3.59	0.842	-1.68	0.08212	.	1.537720	0.04347	N	0.355072	T	0.06005	0.0156	L	0.42581	1.335	0.09310	N	1	B	0.25441	0.126	B	0.31495	0.131	T	0.44390	-0.9331	10	0.29301	T	0.29	.	6.4058	0.21664	0.0:0.6037:0.3963:0.0	.	33	O60811	PRAM2_HUMAN	K	33	ENSP00000240189:R33K	ENSP00000240189:R33K	R	+	2	0	PRAMEF2	12841549	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-1.234000	0.02931	-0.906000	0.03866	-1.052000	0.02337	AGG	PRAMEF2	-	NULL	ENSG00000120952		0.622	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	HGNC	protein_coding	OTTHUMT00000005517.1	-	0.00	155	0	G	NM_023014		12918962	+1	tier1	-	no_errors	ENST00000240189	ensembl	human	known	74_37	missense	36.84	60	35	SNP	0.000	A
PRDM15	63977	genome.wustl.edu	37	21	43274682	43274682	+	Silent	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr21:43274682G>A	ENST00000269844.3	-	12	1739	c.1629C>T	c.(1627-1629)ggC>ggT	p.G543G	PRDM15_ENST00000398548.1_Silent_p.G214G|PRDM15_ENST00000538201.1_Silent_p.G177G|PRDM15_ENST00000447207.2_Silent_p.G177G|PRDM15_ENST00000422911.1_Silent_p.G214G	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	543					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TACCGTGGACGCCAGAGCCGG	0.642																																																	0													44.0	47.0	46.0					21																	43274682		2203	4300	6503	SO:0001819	synonymous_variant	0			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.1629C>T	21.37:g.43274682G>A			E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.G543	ENST00000269844.3	37	c.1629	CCDS13676.1	21																																																																																			PRDM15	-	NULL	ENSG00000141956		0.642	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	HGNC	protein_coding			0.00	82	0	G	NM_022115		43274682	-1			no_errors	ENST00000269844	ensembl	human	known	74_37	silent	6.12	46	3	SNP	0.000	A
PREX2	80243	genome.wustl.edu	37	8	68993013	68993013	+	Silent	SNP	A	A	T	rs12682458|rs368406603	byFrequency	TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr8:68993013A>T	ENST00000288368.4	+	17	2095	c.1818A>T	c.(1816-1818)ggA>ggT	p.G606G	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	606	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATGGCTTTGGATTAGAAGACA	0.279																																																	0													66.0	71.0	69.0					8																	68993013		2202	4297	6499	SO:0001819	synonymous_variant	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1818A>T	8.37:g.68993013A>T			B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G606	ENST00000288368.4	37	c.1818	CCDS6201.1	8																																																																																			PREX2	-	superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000046889		0.279	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0.00	137	0	A	NM_025170		68993013	+1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	silent	24.09	104	33	SNP	0.442	T
PRIMA1	145270	genome.wustl.edu	37	14	94187802	94187802	+	Silent	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr14:94187802G>A	ENST00000393140.1	-	5	552	c.450C>T	c.(448-450)aaC>aaT	p.N150N	PRIMA1_ENST00000393143.1_Silent_p.N150N|PRIMA1_ENST00000316227.3_3'UTR	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	150					establishment of localization in cell (GO:0051649)|neurotransmitter catabolic process (GO:0042135)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|synapse (GO:0045202)				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		ACACCACTGCGTTGTTCACGT	0.557																																																	0													131.0	92.0	105.0					14																	94187802		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9912.1	14q32.13	2008-08-29			ENSG00000175785	ENSG00000175785			18319	protein-coding gene	gene with protein product	"""membrane anchor of acetylcholinesterase"""	613851				11804574	Standard	NM_178013		Approved	PRIMA	uc001ybw.1	Q86XR5	OTTHUMG00000141313	ENST00000393140.1:c.450C>T	14.37:g.94187802G>A			Q86XR6	Silent	SNP	NULL	p.N150	ENST00000393140.1	37	c.450	CCDS9912.1	14																																																																																			PRIMA1	-	NULL	ENSG00000175785		0.557	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRIMA1	HGNC	protein_coding	OTTHUMT00000280658.1	-	0.00	44	0	G	NM_178013		94187802	-1	tier1	-	no_errors	ENST00000393140	ensembl	human	known	74_37	silent	32.14	19	9	SNP	0.929	A
PRKRIR	5612	genome.wustl.edu	37	11	76072076	76072076	+	Missense_Mutation	SNP	G	G	A	rs139107723	byFrequency	TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:76072076G>A	ENST00000260045.3	-	3	347	c.242C>T	c.(241-243)gCa>gTa	p.A81V	PRKRIR_ENST00000531878.1_5'UTR	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	81					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TGTTGGTATTGCATTATCTCG	0.308																																																	0													131.0	127.0	129.0					11																	76072076		2200	4292	6492	SO:0001583	missense	0			AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.242C>T	11.37:g.76072076G>A	ENSP00000260045:p.Ala81Val		A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	pfam_Znf_C2CH,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH	p.A81V	ENST00000260045.3	37	c.242	CCDS8243.1	11	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299641	0.81136	.	.	ENSG00000137492	ENST00000260045	D	0.97279	-4.32	5.44	5.44	0.79542	Zinc finger, C2CH-type (4);	0.000000	0.85682	D	0.000000	D	0.97173	0.9076	M	0.82923	2.615	0.80722	D	1	B	0.27316	0.175	B	0.31812	0.136	D	0.95974	0.8972	10	0.72032	D	0.01	.	19.6212	0.95656	0.0:0.0:1.0:0.0	.	81	O43422	P52K_HUMAN	V	81	ENSP00000260045:A81V	ENSP00000260045:A81V	A	-	2	0	PRKRIR	75749724	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.404000	0.97306	2.723000	0.93209	0.655000	0.94253	GCA	PRKRIR	-	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	ENSG00000137492		0.308	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKRIR	HGNC	protein_coding	OTTHUMT00000383188.1		0.00	108	0	G	NM_004705		76072076	-1			no_errors	ENST00000260045	ensembl	human	known	74_37	missense	8.77	52	5	SNP	1.000	A
PRSS3	5646	genome.wustl.edu	37	9	33798037	33798037	+	Silent	SNP	T	T	C			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr9:33798037T>C	ENST00000361005.5	+	3	582	c.582T>C	c.(580-582)acT>acC	p.T194T	PRSS3_ENST00000429677.3_Silent_p.T130T|PRSS3_ENST00000379405.3_Silent_p.T137T|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Silent_p.T151T	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	194	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CTGCTGGCACTGAGTGCCTCA	0.562																																																	0													161.0	127.0	138.0					9																	33798037		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.582T>C	9.37:g.33798037T>C			A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.T194	ENST00000361005.5	37	c.582	CCDS47958.1	9																																																																																			PRSS3	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000010438		0.562	PRSS3-003	KNOWN	basic|CCDS	protein_coding	PRSS3	HGNC	protein_coding	OTTHUMT00000052121.1		0.00	64	0	T	NM_002771		33798037	+1			no_errors	ENST00000361005	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.688	C
PSD3	23362	genome.wustl.edu	37	8	18541566	18541566	+	5'UTR	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr8:18541566C>T	ENST00000428502.2	-	0	43				PSD3_ENST00000440756.2_Intron|PSD3_ENST00000327040.8_Intron|PSD3_ENST00000286485.8_Intron|PSD3_ENST00000523619.1_Intron			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3						neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CGCCGTGATCCGCGTTAGCTT	0.557																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000428502.2:c.-124G>A	8.37:g.18541566C>T			A6NFQ4|E9KL50|Q6B003|Q9Y2F1	RNA	SNP	-	NULL	ENST00000428502.2	37	NULL		8																																																																																			PSD3	-	-	ENSG00000156011		0.557	PSD3-006	NOVEL	basic	protein_coding	PSD3	HGNC	protein_coding	OTTHUMT00000374870.1	-	0.00	25	0	C	NM_015310		18541566	-1	tier1	-	no_errors	ENST00000521878	ensembl	human	known	74_37	rna	75.00	3	9	SNP	0.846	T
PSME2	5721	genome.wustl.edu	37	14	24612868	24612868	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr14:24612868C>T	ENST00000216802.5	-	10	1204	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	PSME2_ENST00000560410.1_Missense_Mutation_p.A178T|PSME2_ENST00000471700.2_5'UTR|EMC9_ENST00000558200.1_5'Flank|EMC9_ENST00000419198.2_5'Flank|EMC9_ENST00000560403.1_5'Flank|EMC9_ENST00000216799.4_5'Flank	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	189					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		TGCACCAAGGCCCGGTAATCC	0.537																																																	0													72.0	73.0	73.0					14																	24612868		2203	4300	6503	SO:0001583	missense	0				CCDS9614.1	14q11.2	2010-03-10			ENSG00000100911	ENSG00000100911		"""Proteasome (prosome, macropain) subunits"""	9569	protein-coding gene	gene with protein product		602161				7789512	Standard	NM_002818		Approved	PA28beta	uc001wmj.3	Q9UL46	OTTHUMG00000028797	ENST00000216802.5:c.565G>A	14.37:g.24612868C>T	ENSP00000216802:p.Ala189Thr		Q15129	Missense_Mutation	SNP	pfam_Proteasome_activ_pa28_C,pfam_Proteasome_activ_pa28_N,superfamily_Proteasome_activ_pa28	p.A189T	ENST00000216802.5	37	c.565	CCDS9614.1	14	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232974	0.39498	.	.	ENSG00000100911	ENST00000216802	T	0.43688	0.94	4.84	4.84	0.62591	Proteasome activator pa28, REG beta subunit (2);	0.177958	0.50627	D	0.000109	T	0.37210	0.0995	L	0.40543	1.245	0.43457	D	0.995654	P	0.36222	0.544	B	0.40038	0.317	T	0.07481	-1.0770	10	0.23891	T	0.37	-8.1439	13.6179	0.62120	0.0:1.0:0.0:0.0	.	189	Q9UL46	PSME2_HUMAN	T	189	ENSP00000216802:A189T	ENSP00000216802:A189T	A	-	1	0	PSME2	23682708	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.337000	0.43947	2.680000	0.91292	0.561000	0.74099	GCC	PSME2	-	pfam_Proteasome_activ_pa28_C,superfamily_Proteasome_activ_pa28	ENSG00000100911		0.537	PSME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME2	HGNC	protein_coding	OTTHUMT00000071918.3	-	0.00	61	0	C	NM_002818		24612868	-1	tier1	-	no_errors	ENST00000216802	ensembl	human	known	74_37	missense	26.19	31	11	SNP	1.000	T
PTEN	5728	genome.wustl.edu	37	10	89711968	89711968	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr10:89711968C>T	ENST00000371953.3	+	6	1943	c.586C>T	c.(586-588)Cac>Tac	p.H196Y	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	196	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)|p.H196fs*6(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACTGTTGTTTCACAAGATGAT	0.403		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	53	Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(4)|Deletion - In frame(1)|Insertion - Frameshift(1)	prostate(16)|central_nervous_system(14)|skin(8)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	GRCh37	CD982915	PTEN	D							153.0	152.0	152.0					10																	89711968		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.586C>T	10.37:g.89711968C>T	ENSP00000361021:p.His196Tyr		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.H196Y	ENST00000371953.3	37	c.586	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	C	32	5.171720	0.94807	.	.	ENSG00000171862	ENST00000371953	D	0.86097	-2.07	5.85	5.85	0.93711	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.093707	0.85682	D	0.000000	D	0.90075	0.6900	M	0.62723	1.935	0.80722	D	1	D	0.63880	0.993	P	0.57620	0.824	D	0.88558	0.3121	9	.	.	.	-3.1285	20.1698	0.98157	0.0:1.0:0.0:0.0	.	196	P60484	PTEN_HUMAN	Y	196	ENSP00000361021:H196Y	.	H	+	1	0	PTEN	89701948	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.406000	0.80017	2.777000	0.95525	0.585000	0.79938	CAC	PTEN	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom	ENSG00000171862		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1		0.00	33	0	C	NM_000314		89711968	+1			no_errors	ENST00000371953	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T
PTPRZ1	5803	genome.wustl.edu	37	7	121659264	121659264	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:121659264G>A	ENST00000393386.2	+	13	5341	c.4930G>A	c.(4930-4932)Gtg>Atg	p.V1644M	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.V784M	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1644					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCTTGTGATCGTGTCAGCCCT	0.418																																																	0													232.0	207.0	216.0					7																	121659264		2203	4300	6503	SO:0001583	missense	0			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.4930G>A	7.37:g.121659264G>A	ENSP00000377047:p.Val1644Met		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.V1644M	ENST00000393386.2	37	c.4930	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711015	0.89112	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.77877	0.41;-1.13	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000010	D	0.87637	0.6227	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.948;0.992	D	0.88552	0.3117	10	0.87932	D	0	.	19.1031	0.93282	0.0:0.0:1.0:0.0	.	783;784;1644	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	M	1644;784	ENSP00000377047:V1644M;ENSP00000410000:V784M	ENSP00000377047:V1644M	V	+	1	0	PTPRZ1	121446500	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.968000	0.76086	2.539000	0.85634	0.585000	0.79938	GTG	PTPRZ1	-	NULL	ENSG00000106278		0.418	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	-	0.00	100	0	G	NM_002851		121659264	+1	tier1	-	no_errors	ENST00000393386	ensembl	human	known	74_37	missense	40.40	59	40	SNP	1.000	A
PTPRN2	5799	genome.wustl.edu	37	7	157903567	157903567	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:157903567C>T	ENST00000389418.4	-	10	1606	c.1597G>A	c.(1597-1599)Gtc>Atc	p.V533I	PTPRN2_ENST00000409483.1_Missense_Mutation_p.V495I|PTPRN2_ENST00000389416.4_Missense_Mutation_p.V516I|PTPRN2_ENST00000389413.3_Intron|PTPRN2_ENST00000404321.2_Missense_Mutation_p.V556I	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	533					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGCGGGCGACGTCCTCCACC	0.647																																																	0													38.0	27.0	31.0					7																	157903567		2177	4280	6457	SO:0001583	missense	0			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1597G>A	7.37:g.157903567C>T	ENSP00000374069:p.Val533Ile		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.V556I	ENST00000389418.4	37	c.1666	CCDS5947.1	7	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755879	0.49362	.	.	ENSG00000155093	ENST00000409483;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T	0.03801	3.82;3.81;3.82;3.8	4.68	-3.42	0.04825	.	0.798245	0.09881	N	0.743731	T	0.06600	0.0169	L	0.46157	1.445	0.09310	N	1	P;P;B;P	0.51537	0.933;0.946;0.018;0.946	B;P;B;P	0.47430	0.411;0.547;0.012;0.547	T	0.20371	-1.0277	10	0.42905	T	0.14	.	9.0689	0.36480	0.0:0.6868:0.2238:0.0895	.	556;495;516;533	Q92932-3;E7EM83;E9PC57;Q92932	.;.;.;PTPR2_HUMAN	I	495;516;533;556	ENSP00000387114:V495I;ENSP00000374067:V516I;ENSP00000374069:V533I;ENSP00000385464:V556I	ENSP00000374067:V516I	V	-	1	0	PTPRN2	157596328	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.390000	0.07332	-0.781000	0.04548	-1.442000	0.01069	GTC	PTPRN2	-	pfam_Receptor_IA-2	ENSG00000155093		0.647	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	HGNC	protein_coding	OTTHUMT00000353214.1	-	0.00	61	0	C			157903567	-1	tier1	-	no_errors	ENST00000404321	ensembl	human	known	74_37	missense	43.86	32	25	SNP	0.000	T
RAB3GAP1	22930	genome.wustl.edu	37	2	135911238	135911238	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr2:135911238C>T	ENST00000264158.8	+	19	2124	c.2081C>T	c.(2080-2082)tCc>tTc	p.S694F	ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.S650F|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.S694F	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	694					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		CCAGGTTGCTCCCTGGAAGAT	0.398																																																	0													86.0	94.0	91.0					2																	135911238		2203	4300	6503	SO:0001583	missense	0			D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2081C>T	2.37:g.135911238C>T	ENSP00000264158:p.Ser694Phe		A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	NULL	p.S694F	ENST00000264158.8	37	c.2081	CCDS33294.1	2	.	.	.	.	.	.	.	.	.	.	C	1.199	-0.633054	0.03584	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.42131	0.98;0.98;0.98	5.54	-2.36	0.06663	.	0.892392	0.09948	N	0.734992	T	0.23289	0.0563	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26985	-1.0087	10	0.17369	T	0.5	-0.0774	12.5552	0.56250	0.0:0.0722:0.6737:0.2541	.	694;694	C9J837;Q15042	.;RB3GP_HUMAN	F	694;650;694	ENSP00000264158:S694F;ENSP00000444306:S650F;ENSP00000411418:S694F	ENSP00000264158:S694F	S	+	2	0	RAB3GAP1	135627708	0.020000	0.18652	0.783000	0.31826	0.700000	0.40528	0.591000	0.23969	-0.206000	0.10203	-1.358000	0.01219	TCC	RAB3GAP1	-	NULL	ENSG00000115839		0.398	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP1	HGNC	protein_coding	OTTHUMT00000337514.2	-	0.00	57	0	C	NM_012233		135911238	+1	tier1	-	no_errors	ENST00000264158	ensembl	human	known	74_37	missense	15.38	55	10	SNP	0.082	T
IFT22	64792	genome.wustl.edu	37	7	100962252	100962252	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:100962252G>T	ENST00000315322.4	-	2	194	c.101C>A	c.(100-102)cCa>cAa	p.P34Q	RABL5_ENST00000495166.1_Intron|RABL5_ENST00000498704.2_Intron|RABL5_ENST00000517481.1_5'UTR|RABL5_ENST00000437644.2_Missense_Mutation_p.P34Q	NM_022777.2	NP_073614.1	Q9H7X7	IFT22_HUMAN		34					small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					TCCTTGGGTTGGGCTGTATTC	0.488																																																	0													165.0	136.0	146.0					7																	100962252		2203	4300	6503	SO:0001583	missense	0																														ENST00000315322.4:c.101C>A	7.37:g.100962252G>T	ENSP00000320359:p.Pro34Gln		Q49AG1|Q69YV5|Q9BSW4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase	p.P34Q	ENST00000315322.4	37	c.101	CCDS5719.1	7	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636548	0.87760	.	.	ENSG00000128581	ENST00000315322;ENST00000437644	T;D	0.82893	-1.11;-1.66	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.91868	0.7426	M	0.84156	2.68	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.92483	0.5994	10	0.87932	D	0	-11.7967	17.5774	0.87955	0.0:0.0:1.0:0.0	.	34;34;34	B7Z2E8;Q9H7X7-2;Q9H7X7	.;.;RABL5_HUMAN	Q	34	ENSP00000320359:P34Q;ENSP00000390770:P34Q	ENSP00000320359:P34Q	P	-	2	0	RABL5	100748972	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	8.593000	0.90832	2.751000	0.94390	0.655000	0.94253	CCA	RABL5	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase	ENSG00000128581		0.488	RABL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABL5	HGNC	protein_coding	OTTHUMT00000347565.1		0.00	61	0	G			100962252	-1			no_errors	ENST00000315322	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T
RAD9A	5883	genome.wustl.edu	37	11	67165003	67165003	+	Silent	SNP	G	G	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:67165003G>T	ENST00000307980.2	+	11	1242	c.1149G>T	c.(1147-1149)ctG>ctT	p.L383L	PPP1CA_ENST00000532446.1_5'Flank|RNU6-1238P_ENST00000517215.1_RNA|RAD9A_ENST00000535644.1_3'UTR	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	383	Sufficient for interaction with ABL1.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|enzyme binding (GO:0019899)|exodeoxyribonuclease III activity (GO:0008853)|histone deacetylase binding (GO:0042826)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GCCCTGTGCTGGCGGAAGACA	0.607								Other conserved DNA damage response genes																																									0													57.0	47.0	50.0					11																	67165003		2200	4295	6495	SO:0001819	synonymous_variant	0			U53174	CCDS8159.1	11q13.1-q13.2	2008-02-05	2003-07-21	2003-07-23	ENSG00000172613	ENSG00000172613			9827	protein-coding gene	gene with protein product		603761	"""RAD9 (S. pombe) homolog"""	RAD9		8943031	Standard	NM_004584		Approved		uc001okr.3	Q99638	OTTHUMG00000167670	ENST00000307980.2:c.1149G>T	11.37:g.67165003G>T			B2RCZ8|Q6FI29|Q96C41	Silent	SNP	pfam_Rad9/Ddc1,pirsf_Rad9	p.L383	ENST00000307980.2	37	c.1149	CCDS8159.1	11																																																																																			RAD9A	-	pirsf_Rad9	ENSG00000172613		0.607	RAD9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD9A	HGNC	protein_coding	OTTHUMT00000395481.2		0.00	48	0	G	NM_004584		67165003	+1			no_errors	ENST00000307980	ensembl	human	known	74_37	silent	27.27	24	9	SNP	1.000	T
RCAN3	11123	genome.wustl.edu	37	1	24857853	24857853	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:24857853G>A	ENST00000374395.4	+	3	654	c.341G>A	c.(340-342)gGg>gAg	p.G114E	RCAN3_ENST00000374393.2_Intron|RN7SL857P_ENST00000580228.1_RNA|RCAN3_ENST00000538532.1_Intron|RCAN3_ENST00000436717.2_Missense_Mutation_p.G114E|RCAN3_ENST00000412742.2_Missense_Mutation_p.G114E	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	114					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		GACTTCAATGGGCAGAAGCTA	0.393																																																	0													54.0	56.0	55.0					1																	24857853		2203	4300	6503	SO:0001583	missense	0				CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"""Down syndrome critical region gene 1-like 2"""	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.341G>A	1.37:g.24857853G>A	ENSP00000363516:p.Gly114Glu		A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Missense_Mutation	SNP	pfam_Calcipressin	p.G114E	ENST00000374395.4	37	c.341	CCDS254.1	1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659780	0.88154	.	.	ENSG00000117602	ENST00000374395;ENST00000436717;ENST00000412742	T;T	0.53423	0.62;0.63	5.84	5.84	0.93424	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.70141	0.3190	M	0.76002	2.32	0.80722	D	1	P;D;D	0.89917	0.815;1.0;1.0	P;D;D	0.97110	0.607;1.0;1.0	T	0.65129	-0.6243	10	0.31617	T	0.26	-3.9421	20.1454	0.98074	0.0:0.0:1.0:0.0	.	114;114;114	E7ENV1;Q9UKA8-2;Q9UKA8	.;.;RCAN3_HUMAN	E	114	ENSP00000363516:G114E;ENSP00000414447:G114E	ENSP00000363516:G114E	G	+	2	0	RCAN3	24730440	1.000000	0.71417	0.564000	0.28396	0.985000	0.73830	9.171000	0.94802	2.748000	0.94277	0.650000	0.86243	GGG	RCAN3	-	pfam_Calcipressin	ENSG00000117602		0.393	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCAN3	HGNC	protein_coding	OTTHUMT00000009176.2	-	0.00	60	0	G			24857853	+1	tier1	-	no_errors	ENST00000374395	ensembl	human	known	74_37	missense	39.53	26	17	SNP	1.000	A
REEP3	221035	genome.wustl.edu	37	10	65359025	65359025	+	Silent	SNP	T	T	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr10:65359025T>A	ENST00000373758.4	+	5	582	c.399T>A	c.(397-399)gcT>gcA	p.A133A	REEP3_ENST00000298249.4_Silent_p.A118A	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	133					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)				endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTACTGCTGCTGTTACTGCAG	0.363																																																	0													64.0	62.0	62.0					10																	65359025		1838	4080	5918	SO:0001819	synonymous_variant	0			BC057832	CCDS44411.1	10q21.3	2011-01-05	2006-02-07	2006-02-07	ENSG00000165476	ENSG00000165476		"""Receptor accessory proteins"""	23711	protein-coding gene	gene with protein product		609348	"""chromosome 10 open reading frame 74"""	C10orf74		16271481, 15550249	Standard	NM_001001330		Approved		uc001jmt.3	Q6NUK4	OTTHUMG00000018318	ENST00000373758.4:c.399T>A	10.37:g.65359025T>A			Q5JQR5|Q5QGT2|Q6PEW8|Q6PJY4	Silent	SNP	pfam_TB2_DP1_HVA22	p.A133	ENST00000373758.4	37	c.399	CCDS44411.1	10																																																																																			REEP3	-	NULL	ENSG00000165476		0.363	REEP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REEP3	HGNC	protein_coding			0.00	41	0	T	NM_001001330		65359025	+1			no_errors	ENST00000373758	ensembl	human	known	74_37	silent	15.56	38	7	SNP	0.256	A
RIC8A	60626	genome.wustl.edu	37	11	209369	209369	+	Intron	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:209369G>A	ENST00000526104.1	+	3	1476				BET1L_ENST00000529614.2_5'Flank|BET1L_ENST00000410108.1_5'Flank|RIC8A_ENST00000325207.5_Intron|BET1L_ENST00000332865.6_5'Flank|BET1L_ENST00000325147.9_5'Flank|RIC8A_ENST00000527696.1_Missense_Mutation_p.R26K|BET1L_ENST00000382762.3_5'Flank|BET1L_ENST00000486280.1_5'Flank			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCCCCAGGAAGAAGGGCCTGG	0.647																																																	0													66.0	75.0	72.0					11																	209369		2203	4300	6503	SO:0001627	intron_variant	0			AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.133-38G>A	11.37:g.209369G>A			Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Missense_Mutation	SNP	pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn	p.R26K	ENST00000526104.1	37	c.77		11	.	.	.	.	.	.	.	.	.	.	G	10.92	1.486597	0.26686	.	.	ENSG00000177963	ENST00000527696	.	.	.	3.64	1.25	0.21368	.	.	.	.	.	T	0.16854	0.0405	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31194	-0.9952	7	0.12766	T	0.61	.	4.6433	0.12560	0.1445:0.0:0.66:0.1955	.	26	Q9NPQ8-2	.	K	26	.	ENSP00000434833:R26K	R	+	2	0	RIC8A	199369	0.000000	0.05858	0.003000	0.11579	0.810000	0.45777	0.177000	0.16801	0.109000	0.17891	-0.521000	0.04368	AGA	RIC8A	-	NULL	ENSG00000177963		0.647	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	RIC8A	HGNC	protein_coding	OTTHUMT00000384761.1	-	0.00	94	0	G	NM_021932		209369	+1	tier1	-	no_errors	ENST00000527696	ensembl	human	putative	74_37	missense	85.45	8	47	SNP	0.001	A
GOLGA8K	653125	genome.wustl.edu	37	15	32686600	32686600	+	Intron	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr15:32686600C>T	ENST00000512626.2	-	15	1277				AC139426.1_ENST00000408517.1_RNA|RN7SL185P_ENST00000492212.2_RNA					golgin A8 family, member K																		CTTgctattccgcccaggcac	0.527																																																	0																																										SO:0001627	intron_variant	0				CCDS61577.1	15q13.3	2012-10-05			ENSG00000249931	ENSG00000249931			38652	protein-coding gene	gene with protein product							Standard	NM_001282493		Approved			D6RF30	OTTHUMG00000175395	ENST00000512626.2:c.1277-166G>A	15.37:g.32686600C>T				RNA	SNP	-	NULL	ENST00000512626.2	37	NULL		15																																																																																			RN7SL185P	-	-	ENSG00000241459		0.527	GOLGA8K-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal	protein_coding	RN7SL185P	HGNC	protein_coding	OTTHUMT00000371108.2	-	0.00	55	0	C	XM_003118652.2		32686600	-1	tier1	-	no_errors	ENST00000492212	ensembl	human	known	74_37	rna	14.29	36	6	SNP	0.046	T
RNF19B	127544	genome.wustl.edu	37	1	33412075	33412075	+	Silent	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:33412075C>T	ENST00000373456.7	-	4	1076	c.1077G>A	c.(1075-1077)gtG>gtA	p.V359V	RNF19B_ENST00000235150.4_Silent_p.V358V|RNF19B_ENST00000356990.5_Silent_p.V358V	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	359					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GAGAAATCCCCACTGGAGCAC	0.507																																																	0													93.0	74.0	81.0					1																	33412075		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"""RING-type (C3HC4) zinc fingers"""	26886	protein-coding gene	gene with protein product		610872	"""IBR domain containing 3"""	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1077G>A	1.37:g.33412075C>T			B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Silent	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.V359	ENST00000373456.7	37	c.1077	CCDS372.2	1																																																																																			RNF19B	-	NULL	ENSG00000116514		0.507	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNF19B	HGNC	protein_coding	OTTHUMT00000011465.3	-	0.00	69	0	C	NM_153341		33412075	-1	tier1	-	no_errors	ENST00000373456	ensembl	human	known	74_37	silent	35.29	22	12	SNP	0.997	T
RNLS	55328	genome.wustl.edu	37	10	90074274	90074274	+	Silent	SNP	C	C	T	rs201629674		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr10:90074274C>T	ENST00000331772.4	-	6	847	c.825G>A	c.(823-825)ccG>ccA	p.P275P	RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Silent_p.P192P|RNLS_ENST00000371947.3_Silent_p.P275P	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	275					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						GAGGCAAACCCGGCAAAATGT	0.433																																																	0													134.0	121.0	126.0					10																	90074274		2203	4300	6503	SO:0001819	synonymous_variant	0			BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"""chromosome 10 open reading frame 59"""	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.825G>A	10.37:g.90074274C>T			Q9BS33|Q9NUP8	Silent	SNP	pfam_Amino_oxidase	p.P275	ENST00000331772.4	37	c.825	CCDS31239.1	10																																																																																			RNLS	-	pfam_Amino_oxidase	ENSG00000184719		0.433	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RNLS	HGNC	protein_coding	OTTHUMT00000049250.1	-	0.00	109	0	C	NM_018363		90074274	-1	tier1	rs201629674	no_errors	ENST00000331772	ensembl	human	known	74_37	silent	32.47	52	25	SNP	0.993	T
RNLS	55328	genome.wustl.edu	37	10	90342968	90342968	+	5'UTR	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr10:90342968C>T	ENST00000331772.4	-	0	2				RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_5'Flank|Y_RNA_ENST00000364678.1_RNA|RNLS_ENST00000371947.3_5'UTR	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase						cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						AGCAGCGATCCGCGCTGAGTC	0.697											OREG0020353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													30.0	30.0	30.0					10																	90342968		2203	4299	6502	SO:0001623	5_prime_UTR_variant	0			BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"""chromosome 10 open reading frame 59"""	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.-21G>A	10.37:g.90342968C>T		1274	Q9BS33|Q9NUP8	RNA	SNP	-	NULL	ENST00000331772.4	37	NULL	CCDS31239.1	10																																																																																			RNLS	-	-	ENSG00000184719		0.697	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RNLS	HGNC	protein_coding	OTTHUMT00000049250.1	-	0.00	41	0	C	NM_018363		90342968	-1	tier1	-	no_errors	ENST00000466945	ensembl	human	known	74_37	rna	38.89	22	14	SNP	0.000	T
RP1	6101	genome.wustl.edu	37	8	55542526	55542526	+	Silent	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr8:55542526G>A	ENST00000220676.1	+	4	6232	c.6084G>A	c.(6082-6084)ttG>ttA	p.L2028L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2028					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AACCAGATTTGAAGGAAAGGT	0.338																																					Colon(91;1014 1389 7634 14542 40420)												0													82.0	87.0	85.0					8																	55542526		2202	4299	6501	SO:0001819	synonymous_variant	0			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.6084G>A	8.37:g.55542526G>A				Silent	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.L2028	ENST00000220676.1	37	c.6084	CCDS6160.1	8																																																																																			RP1	-	NULL	ENSG00000104237		0.338	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	-	0.00	73	0	G	NM_006269		55542526	+1	tier1	-	no_errors	ENST00000220676	ensembl	human	known	74_37	silent	30.30	46	20	SNP	0.000	A
RPAP1	26015	genome.wustl.edu	37	15	41819264	41819264	+	Silent	SNP	G	G	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr15:41819264G>T	ENST00000304330.4	-	14	1865	c.1749C>A	c.(1747-1749)gtC>gtA	p.V583V	RPAP1_ENST00000561603.1_Silent_p.V583V|RPAP1_ENST00000568413.1_5'Flank	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	583						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGCACTCCAGGACCTATGGGA	0.547																																																	0													58.0	58.0	58.0					15																	41819264		2203	4300	6503	SO:0001819	synonymous_variant	0			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.1749C>A	15.37:g.41819264G>T			Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Silent	SNP	pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold	p.V583	ENST00000304330.4	37	c.1749	CCDS10079.1	15																																																																																			RPAP1	-	NULL	ENSG00000103932		0.547	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP1	HGNC	protein_coding	OTTHUMT00000252694.2	-	0.00	46	0	G	NM_015540		41819264	-1	tier1	-	no_errors	ENST00000304330	ensembl	human	known	74_37	silent	10.53	34	4	SNP	0.701	T
RPL23	9349	genome.wustl.edu	37	17	37008985	37008985	+	Splice_Site	SNP	C	C	G			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr17:37008985C>G	ENST00000479035.2	-	3	230	c.98G>C	c.(97-99)gGa>gCa	p.G33A	SNORA21_ENST00000362423.1_RNA|RPL23_ENST00000394332.1_Splice_Site_p.G33A|RPL23_ENST00000245857.5_5'UTR|SNORA21_ENST00000516890.1_RNA|RPL23_ENST00000577407.1_Splice_Site_p.G33A|RPL23_ENST00000394333.1_Splice_Site_p.G33A	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN	ribosomal protein L23	33					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal protein import into nucleus (GO:0006610)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)	3						GTTTTTGGCTCCTACAAAAGA	0.473																																																	0													56.0	58.0	57.0					17																	37008985		2203	4300	6503	SO:0001630	splice_region_variant	0			X52839	CCDS11330.1	17q12	2011-04-06			ENSG00000125691	ENSG00000125691		"""L ribosomal proteins"""	10316	protein-coding gene	gene with protein product		603662				1861993	Standard	NM_000978		Approved	rpL17, L23	uc002hqx.1	P62829	OTTHUMG00000133118	ENST00000479035.2:c.98-1G>C	17.37:g.37008985C>G			P23131|P24048|Q29246|Q3SWV7|Q6P5S1	Missense_Mutation	SNP	pfam_Ribosomal_L14b/L23e,superfamily_Ribosomal_L14_dom	p.G33A	ENST00000479035.2	37	c.98	CCDS11330.1	17	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664697	0.88251	.	.	ENSG00000125691	ENST00000479035;ENST00000394333;ENST00000394332;ENST00000378096	D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07	5.31	5.31	0.75309	Ribosomal protein L14 domain (2);	0.000000	0.85682	D	0.000000	D	0.96321	0.8800	H	0.99650	4.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.98427	1.0580	10	0.87932	D	0	.	17.5202	0.87784	0.0:1.0:0.0:0.0	.	33;33	B9ZVP7;P62829	.;RL23_HUMAN	A	33;33;33;37	ENSP00000420311:G33A;ENSP00000377866:G33A;ENSP00000377865:G33A;ENSP00000367336:G37A	ENSP00000367336:G37A	G	-	2	0	RPL23	34262511	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	7.750000	0.85110	2.498000	0.84270	0.491000	0.48974	GGA	RPL23	-	pfam_Ribosomal_L14b/L23e,superfamily_Ribosomal_L14_dom	ENSG00000125691		0.473	RPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL23	HGNC	protein_coding	OTTHUMT00000256785.3	-	0.00	51	0	C	NM_000978	Missense_Mutation	37008985	-1	tier1	-	no_errors	ENST00000479035	ensembl	human	known	74_37	missense	88.18	95	716	SNP	1.000	G
RRAGC	64121	genome.wustl.edu	37	1	39325198	39325200	+	In_Frame_Del	DEL	CCG	CCG	-	rs113599946		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	CCG	CCG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:39325198_39325200delCCG	ENST00000373001.3	-	1	295_297	c.119_121delCGG	c.(118-123)gcgggc>ggc	p.A40del	RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA	NM_022157.2	NP_071440.1			Ras-related GTP binding C											endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				acccctccgcccgccgccgccgc	0.714																																																	0										6,1724		1,4,860						2.0	0.6			2	44,4064		15,14,2025	no	coding	RRAGC	NM_022157.2		16,18,2885	A1A1,A1R,RR		1.0711,0.3468,0.8565				50,5788				SO:0001651	inframe_deletion	0			AF323609	CCDS430.1	1p34	2008-02-05			ENSG00000116954	ENSG00000116954			19902	protein-coding gene	gene with protein product		608267				11073942	Standard	NM_022157		Approved	GTR2, FLJ13311	uc001ccq.3	Q9HB90	OTTHUMG00000000490	ENST00000373001.3:c.119_121delCGG	1.37:g.39325207_39325209delCCG	ENSP00000362092:p.Ala40del			In_Frame_Del	DEL	pfam_Gtr1_RagA,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase	p.A40in_frame_del	ENST00000373001.3	37	c.121_119	CCDS430.1	1																																																																																			RRAGC	-	NULL	ENSG00000116954		0.714	RRAGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRAGC	HGNC	protein_coding	OTTHUMT00000001222.2		0.00	26	0	CCG	NM_022157		39325200	-1			no_errors	ENST00000373001	ensembl	human	known	74_37	in_frame_del	33.33	4	2	DEL	0.904:0.792:0.805	0
RYR2	6262	genome.wustl.edu	37	1	237947132	237947132	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:237947132G>C	ENST00000366574.2	+	90	12437	c.12120G>C	c.(12118-12120)aaG>aaC	p.K4040N	RYR2_ENST00000542537.1_Missense_Mutation_p.K4024N|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.K4046N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4040					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCGATGGCAAGGGAGTCATTT	0.428																																																	0													49.0	47.0	48.0					1																	237947132		1899	4131	6030	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12120G>C	1.37:g.237947132G>C	ENSP00000355533:p.Lys4040Asn		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.K4046N	ENST00000366574.2	37	c.12138	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046555	0.55110	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.81659	-1.52;-1.52;-1.52	6.07	-0.855	0.10700	EF-hand-like domain (1);	0.000000	0.64402	D	0.000003	T	0.74359	0.3706	N	0.04508	-0.205	0.80722	D	1	D;D	0.76494	0.999;0.987	D;P	0.74674	0.984;0.87	T	0.73880	-0.3843	10	0.62326	D	0.03	.	11.9531	0.52966	0.5831:0.0:0.4169:0.0	.	1014;4040	B4DGV4;Q92736	.;RYR2_HUMAN	N	4040;4046;4024;1014	ENSP00000355533:K4040N;ENSP00000353174:K4046N;ENSP00000443798:K4024N	ENSP00000353174:K4046N	K	+	3	2	RYR2	236013755	0.998000	0.40836	0.980000	0.43619	0.916000	0.54674	0.684000	0.25364	-0.424000	0.07382	-0.140000	0.14226	AAG	RYR2	-	pfscan_EF_hand_dom	ENSG00000198626		0.428	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0.00	43	0	G	NM_001035		237947132	+1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	8.47	53	5	SNP	0.994	C
RYR3	6263	genome.wustl.edu	37	15	33954404	33954404	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr15:33954404A>C	ENST00000389232.4	+	35	4743	c.4673A>C	c.(4672-4674)cAt>cCt	p.H1558P	RYR3_ENST00000415757.3_Missense_Mutation_p.H1558P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1558	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATGCGGTTCCATTACCACACG	0.612																																																	0													43.0	43.0	43.0					15																	33954404		2075	4227	6302	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4673A>C	15.37:g.33954404A>C	ENSP00000373884:p.His1558Pro		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.H1558P	ENST00000389232.4	37	c.4673	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	A	19.48	3.835537	0.71373	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98889	-5.21;-5.21	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.99162	0.9710	M	0.87456	2.885	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.87578	0.995;0.998	D	0.99453	1.0941	10	0.87932	D	0	.	15.1218	0.72450	1.0:0.0:0.0:0.0	.	1558;1558	Q15413-2;Q15413	.;RYR3_HUMAN	P	1558	ENSP00000373884:H1558P;ENSP00000399610:H1558P	ENSP00000354735:H1558P	H	+	2	0	RYR3	31741696	1.000000	0.71417	0.954000	0.39281	0.553000	0.35397	9.087000	0.94110	2.160000	0.67779	0.529000	0.55759	CAT	RYR3	-	NULL	ENSG00000198838		0.612	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0.00	41	0	A			33954404	+1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	32.14	19	9	SNP	1.000	C
SALL1	6299	genome.wustl.edu	37	16	51174769	51174769	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr16:51174769G>A	ENST00000251020.4	-	2	1397	c.1364C>T	c.(1363-1365)gCg>gTg	p.A455V	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.A358V	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	455					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAAGACCTTCGCGCAGAACCT	0.512																																					GBM(103;1352 1446 1855 4775 8890)												0													104.0	96.0	99.0					16																	51174769		2198	4300	6498	SO:0001583	missense	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1364C>T	16.37:g.51174769G>A	ENSP00000251020:p.Ala455Val		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A455V	ENST00000251020.4	37	c.1364	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818098	0.71028	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.07908	3.15;3.15	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.048774	0.85682	D	0.000000	T	0.18964	0.0455	M	0.65975	2.015	0.58432	D	0.999993	D	0.60575	0.988	P	0.48795	0.59	T	0.00899	-1.1522	10	0.87932	D	0	.	18.685	0.91560	0.0:0.0:1.0:0.0	.	455	Q9NSC2	SALL1_HUMAN	V	455;358;419	ENSP00000251020:A455V;ENSP00000407914:A358V	ENSP00000251020:A455V	A	-	2	0	SALL1	49732270	1.000000	0.71417	0.817000	0.32601	0.990000	0.78478	6.217000	0.72218	2.386000	0.81285	0.563000	0.77884	GCG	SALL1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000103449		0.512	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	-	0.00	63	0	G	NM_002968		51174769	-1	tier1	-	no_errors	ENST00000251020	ensembl	human	known	74_37	missense	60.78	20	31	SNP	1.000	A
SALL1	6299	genome.wustl.edu	37	16	51175993	51175993	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr16:51175993C>T	ENST00000251020.4	-	2	173	c.140G>A	c.(139-141)cGg>cAg	p.R47Q	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_5'UTR	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	47					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGCACAGCACCGGCCACAGAC	0.443																																					GBM(103;1352 1446 1855 4775 8890)												0													96.0	101.0	99.0					16																	51175993		2198	4300	6498	SO:0001583	missense	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.140G>A	16.37:g.51175993C>T	ENSP00000251020:p.Arg47Gln		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R47Q	ENST00000251020.4	37	c.140	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003630	0.74932	.	.	ENSG00000103449	ENST00000251020;ENST00000457559	T	0.42513	0.97	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.52613	0.1745	L	0.33485	1.01	0.80722	D	1	D	0.76494	0.999	P	0.61275	0.886	T	0.50600	-0.8809	10	0.45353	T	0.12	.	19.1099	0.93313	0.0:1.0:0.0:0.0	.	47	Q9NSC2	SALL1_HUMAN	Q	47	ENSP00000251020:R47Q	ENSP00000251020:R47Q	R	-	2	0	SALL1	49733494	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.978000	0.63799	2.499000	0.84300	0.555000	0.69702	CGG	SALL1	-	NULL	ENSG00000103449		0.443	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	-	0.00	85	0	C	NM_002968		51175993	-1	tier1	-	no_errors	ENST00000251020	ensembl	human	known	74_37	missense	42.86	36	27	SNP	1.000	T
SAV1	60485	genome.wustl.edu	37	14	51107485	51107485	+	Silent	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr14:51107485G>A	ENST00000324679.4	-	4	1296	c.933C>T	c.(931-933)taC>taT	p.Y311Y	RN7SL452P_ENST00000482923.2_RNA	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador family WW domain containing protein 1	311					hair follicle development (GO:0001942)|hippo signaling (GO:0035329)|intestinal epithelial cell differentiation (GO:0060575)|keratinocyte differentiation (GO:0030216)|lung epithelial cell differentiation (GO:0060487)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of apoptotic process (GO:0043065)|regulation of stem cell maintenance (GO:2000036)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					GGGCTCGTGCGTAAACCTGAA	0.463																																																	0													147.0	138.0	141.0					14																	51107485		2203	4300	6503	SO:0001819	synonymous_variant	0			AK023071	CCDS9701.1	14q13-q23	2014-04-14	2014-04-14		ENSG00000151748	ENSG00000151748			17795	protein-coding gene	gene with protein product	"""WW domain-containing adaptor 45"""	607203	"""salvador homolog 1 (Drosophila)"""			12202036, 11027580	Standard	NM_021818		Approved	WW45, WWP4, salvador	uc001wyh.2	Q9H4B6	OTTHUMG00000140293	ENST00000324679.4:c.933C>T	14.37:g.51107485G>A			A8K4B8|D3DSB6|Q6IA58|Q9H949|Q9HAK9	Silent	SNP	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_SARAH_dom,pfscan_WW_dom	p.Y311	ENST00000324679.4	37	c.933	CCDS9701.1	14																																																																																			SAV1	-	NULL	ENSG00000151748		0.463	SAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAV1	HGNC	protein_coding	OTTHUMT00000276879.1	-	0.00	111	0	G			51107485	-1	tier1	-	no_errors	ENST00000324679	ensembl	human	known	74_37	silent	24.24	50	16	SNP	1.000	A
SCN8A	6334	genome.wustl.edu	37	12	52099240	52099240	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr12:52099240G>A	ENST00000354534.6	+	10	1352	c.1174G>A	c.(1174-1176)Gtc>Atc	p.V392I	SCN8A_ENST00000545061.1_Missense_Mutation_p.V392I|SCN8A_ENST00000550891.1_Missense_Mutation_p.V392I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	392					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GATCTTCTTCGTCTTGGTCAT	0.468																																																	0													178.0	181.0	180.0					12																	52099240		2055	4236	6291	SO:0001583	missense	0			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.1174G>A	12.37:g.52099240G>A	ENSP00000346534:p.Val392Ile		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.V392I	ENST00000354534.6	37	c.1174	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821453	0.90873	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961;ENST00000551216	D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0	4.96	4.96	0.65561	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98277	0.9429	L	0.46670	1.46	0.80722	D	1	D;D;P;D	0.71674	0.998;0.967;0.947;0.982	D;P;P;P	0.73708	0.981;0.652;0.715;0.567	D	0.97700	1.0184	10	0.30078	T	0.28	.	18.7983	0.92005	0.0:0.0:1.0:0.0	.	392;392;392;392	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	I	392;392;392;392;305;190	ENSP00000448415:V392I;ENSP00000346534:V392I;ENSP00000440360:V392I;ENSP00000347255:V392I;ENSP00000447567:V190I	ENSP00000346534:V392I	V	+	1	0	SCN8A	50385507	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	7.860000	0.86993	2.752000	0.94435	0.655000	0.94253	GTC	SCN8A	-	pfam_Ion_trans_dom	ENSG00000196876		0.468	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	-	0.00	85	0	G	NM_014191		52099240	+1	tier1	-	no_errors	ENST00000354534	ensembl	human	known	74_37	missense	43.66	40	31	SNP	1.000	A
SGSM3	27352	genome.wustl.edu	37	22	40802502	40802502	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr22:40802502C>T	ENST00000248929.9	+	10	1210	c.1021C>T	c.(1021-1023)Ccg>Tcg	p.P341S	SGSM3_ENST00000454798.2_Missense_Mutation_p.P274S	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						ATCGGATATCCCGTCGCAGAT	0.632																																																	0													47.0	37.0	40.0					22																	40802502		2203	4300	6503	SO:0001583	missense	0			AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"""Small G protein signaling modulators"""	25228	protein-coding gene	gene with protein product	"""RUN and SH3 containing 3"""	610440	"""RUN and TBC1 domain containing 3"""	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.1021C>T	22.37:g.40802502C>T	ENSP00000248929:p.Pro341Ser			Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom	p.P341S	ENST00000248929.9	37	c.1021	CCDS14002.1	22	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163195	0.78226	.	.	ENSG00000100359	ENST00000248929;ENST00000545416;ENST00000454798	T;T	0.27104	1.69;1.69	5.57	5.57	0.84162	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.54447	0.1859	M	0.76838	2.35	0.80722	D	1	D;D;P;P	0.76494	0.999;0.999;0.753;0.93	D;D;P;P	0.72982	0.979;0.979;0.511;0.696	T	0.53627	-0.8412	10	0.48119	T	0.1	.	19.5412	0.95275	0.0:1.0:0.0:0.0	.	278;274;341;341	B4DVE3;B4DMS2;Q96HU1-2;Q96HU1	.;.;.;SGSM3_HUMAN	S	341;284;274	ENSP00000248929:P341S;ENSP00000390998:P274S	ENSP00000248929:P341S	P	+	1	0	SGSM3	39132448	1.000000	0.71417	0.414000	0.26521	0.307000	0.27823	7.433000	0.80362	2.625000	0.88918	0.467000	0.42956	CCG	SGSM3	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000100359		0.632	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM3	HGNC	protein_coding	OTTHUMT00000321504.2		0.00	63	0	C	NM_015705		40802502	+1			no_errors	ENST00000248929	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T
SHKBP1	92799	genome.wustl.edu	37	19	41096671	41096671	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:41096671C>A	ENST00000291842.5	+	17	1853	c.1804C>A	c.(1804-1806)Ctg>Atg	p.L602M	SHKBP1_ENST00000600733.1_Missense_Mutation_p.L577M|LTBP4_ENST00000204005.9_5'Flank|LTBP4_ENST00000545697.1_5'Flank	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	602					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GATGGAACAGCTGGAACACTG	0.657																																																	0													58.0	68.0	65.0					19																	41096671		2203	4300	6503	SO:0001583	missense	0			AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1804C>A	19.37:g.41096671C>A	ENSP00000291842:p.Leu602Met		Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_WD40_repeat,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like	p.L602M	ENST00000291842.5	37	c.1804	CCDS12560.1	19	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071593	0.36566	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.47528	0.84	5.01	3.97	0.46021	.	0.228496	0.29321	N	0.012499	T	0.63522	0.2518	M	0.69523	2.12	0.49299	D	0.999778	D;D;P;D;P	0.89917	1.0;1.0;0.886;0.999;0.612	D;D;B;D;B	0.97110	1.0;0.998;0.2;0.996;0.058	T	0.65269	-0.6209	10	0.87932	D	0	-11.7083	7.9231	0.29859	0.0:0.8115:0.0:0.1885	.	480;382;439;602;602	B4DLI0;B4DUW2;B3KVX8;B2R6W9;Q8TBC3	.;.;.;.;SHKB1_HUMAN	M	602;382	ENSP00000291842:L602M	ENSP00000291842:L602M	L	+	1	2	SHKBP1	45788511	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	1.914000	0.39966	1.256000	0.44068	0.561000	0.74099	CTG	SHKBP1	-	NULL	ENSG00000160410		0.657	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHKBP1	HGNC	protein_coding	OTTHUMT00000462613.2	-	0.00	79	0	C	NM_138392		41096671	+1	tier1	-	no_errors	ENST00000291842	ensembl	human	known	74_37	missense	27.59	42	16	SNP	1.000	A
SKAP2	8935	genome.wustl.edu	37	7	26779515	26779515	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:26779515G>A	ENST00000345317.2	-	5	689	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	SKAP2_ENST00000539623.1_De_novo_Start_OutOfFrame|SKAP2_ENST00000489977.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	126	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.R126C(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						CCTTTTCTGCGTTTTTCAAGG	0.373																																																	1	Substitution - Missense(1)	skin(1)											74.0	70.0	71.0					7																	26779515		2203	4300	6503	SO:0001583	missense	0				CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"""Pleckstrin homology (PH) domain containing"""	15687	protein-coding gene	gene with protein product		605215	"""src family associated phosphoprotein 2"""	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.376C>T	7.37:g.26779515G>A	ENSP00000005587:p.Arg126Cys		A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain	p.R126C	ENST00000345317.2	37	c.376	CCDS5400.1	7	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058233	0.76074	.	.	ENSG00000005020	ENST00000345317;ENST00000535331;ENST00000432747	T;T	0.14391	2.51;2.51	5.81	5.81	0.92471	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.38878	0.1057	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.06391	-1.0829	10	0.87932	D	0	-25.7679	17.008	0.86398	0.0:0.0:1.0:0.0	.	111;126	B7Z5N4;O75563	.;SKAP2_HUMAN	C	126;111;111	ENSP00000005587:R126C;ENSP00000408163:R111C	ENSP00000005587:R126C	R	-	1	0	SKAP2	26746040	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.504000	0.66968	2.746000	0.94184	0.591000	0.81541	CGC	SKAP2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000005020		0.373	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKAP2	HGNC	protein_coding	OTTHUMT00000214128.1	-	0.00	136	0	G			26779515	-1	tier1	-	no_errors	ENST00000345317	ensembl	human	known	74_37	missense	11.70	151	20	SNP	1.000	A
SLC10A7	84068	genome.wustl.edu	37	4	147442807	147442807	+	Silent	SNP	A	A	G			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr4:147442807A>G	ENST00000507030.1	-	1	62	c.63T>C	c.(61-63)gcT>gcC	p.A21A	SLC10A7_ENST00000335472.7_Silent_p.A21A|SLC10A7_ENST00000394062.3_Silent_p.A21A|SLC10A7_ENST00000502607.1_Silent_p.A21A|SLC10A7_ENST00000511374.1_Silent_p.A21A|SLC10A7_ENST00000394059.4_Silent_p.A21A|SLC10A7_ENST00000264986.3_Silent_p.A21A|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000432059.2_Silent_p.A21A			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	21					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					GTTTAGCTCCAGCGATCGCCA	0.522																																																	0													160.0	154.0	156.0					4																	147442807		2203	4300	6503	SO:0001819	synonymous_variant	0			AY346324	CCDS3768.1, CCDS34073.1, CCDS75198.1	4q31.2	2013-07-18	2013-07-18	2006-12-19	ENSG00000120519	ENSG00000120519		"""Solute carriers"""	23088	protein-coding gene	gene with protein product		611459	"""chromosome 4 open reading frame 13"""	C4orf13		15932064	Standard	NM_032128		Approved	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438	uc003ikr.2	Q0GE19	OTTHUMG00000161437	ENST00000507030.1:c.63T>C	4.37:g.147442807A>G			A7E2E6|A7MAX9|Q0VAP9|Q45NG1|Q45NG2|Q5H9S6|Q6P4E6|Q8IZ62|Q8NBP8|Q9H0M9	Silent	SNP	pfam_BilAc/Na_symport,pirsf_Put_Na-Bile_cotransptr	p.A21	ENST00000507030.1	37	c.63	CCDS34073.1	4																																																																																			SLC10A7	-	pirsf_Put_Na-Bile_cotransptr	ENSG00000120519		0.522	SLC10A7-009	KNOWN	basic|CCDS	protein_coding	SLC10A7	HGNC	protein_coding	OTTHUMT00000366932.1	-	0.00	80	0	A	NM_032128		147442807	-1	tier1	-	no_errors	ENST00000394062	ensembl	human	known	74_37	silent	64.41	21	38	SNP	0.042	G
SLC12A5	57468	genome.wustl.edu	37	20	44681697	44681697	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr20:44681697G>A	ENST00000454036.2	+	19	2597	c.2548G>A	c.(2548-2550)Gac>Aac	p.D850N	SLC12A5_ENST00000243964.3_Missense_Mutation_p.D827N	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	850					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGGCAGCATCGACGTTTGGTG	0.582																																																	0													188.0	129.0	149.0					20																	44681697		2203	4300	6503	SO:0001583	missense	0			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2548G>A	20.37:g.44681697G>A	ENSP00000387694:p.Asp850Asn		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.D850N	ENST00000454036.2	37	c.2548	CCDS46610.1	20	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966059	0.92855	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.95724	-3.79;-3.79	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.98327	0.9445	H	0.94734	3.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.979;1.0	D	0.99632	1.0986	10	0.87932	D	0	.	16.3478	0.83151	0.0:0.0:1.0:0.0	.	850;827	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	N	850;827	ENSP00000387694:D850N;ENSP00000243964:D827N	ENSP00000243964:D827N	D	+	1	0	SLC12A5	44115104	1.000000	0.71417	0.993000	0.49108	0.815000	0.46073	9.596000	0.98267	2.313000	0.78055	0.561000	0.74099	GAC	SLC12A5	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000124140		0.582	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	-	0.00	46	0	G			44681697	+1	tier1	-	no_errors	ENST00000454036	ensembl	human	known	74_37	missense	34.21	25	13	SNP	1.000	A
SLC1A6	6511	genome.wustl.edu	37	19	15061158	15061158	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:15061158C>G	ENST00000221742.3	-	9	1551	c.1544G>C	c.(1543-1545)gGa>gCa	p.G515A	SLC1A6_ENST00000430939.2_Missense_Mutation_p.G451A|SLC1A6_ENST00000600144.1_Missense_Mutation_p.G437A	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	515					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GACGGCCGCTCCAATTGAGTC	0.562																																																	0													61.0	57.0	58.0					19																	15061158		2203	4300	6503	SO:0001583	missense	0				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1544G>C	19.37:g.15061158C>G	ENSP00000221742:p.Gly515Ala		Q8N753	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.G515A	ENST00000221742.3	37	c.1544	CCDS12321.1	19	.	.	.	.	.	.	.	.	.	.	c	14.55	2.569549	0.45798	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.59906	0.23;0.44	5.43	3.13	0.36017	.	0.000000	0.85682	D	0.000000	T	0.63248	0.2495	L	0.39633	1.23	0.80722	D	1	D;D	0.65815	0.995;0.977	D;P	0.63488	0.915;0.669	T	0.60835	-0.7184	10	0.32370	T	0.25	-10.9333	13.2559	0.60079	0.0:0.6952:0.3048:0.0	.	451;515	E7EV13;P48664	.;EAA4_HUMAN	A	451;515	ENSP00000409386:G451A;ENSP00000221742:G515A	ENSP00000221742:G515A	G	-	2	0	SLC1A6	14922158	1.000000	0.71417	0.838000	0.33150	0.291000	0.27294	5.839000	0.69395	1.264000	0.44198	0.544000	0.68410	GGA	SLC1A6	-	pfam_Na-dicarboxylate_symporter	ENSG00000105143		0.562	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC1A6	HGNC	protein_coding	OTTHUMT00000466283.1	-	0.00	43	0	C	NM_005071		15061158	-1	tier1	-	no_errors	ENST00000221742	ensembl	human	known	74_37	missense	10.67	134	16	SNP	0.997	G
SLC24A2	25769	genome.wustl.edu	37	9	19516162	19516162	+	Missense_Mutation	SNP	C	C	T	rs138630242		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr9:19516162C>T	ENST00000341998.2	-	10	2036	c.1975G>A	c.(1975-1977)Gtc>Atc	p.V659I	SLC24A2_ENST00000286344.3_Missense_Mutation_p.V642I	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	659					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TAGATGGAGACGGGGCATGTA	0.512																																																	0								C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	187.0	179.0	182.0		1924,1975	3.5	1.0	9	dbSNP_134	182	0,8600		0,0,4300	yes	missense,missense	SLC24A2	NM_001193288.2,NM_020344.3	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	642/645,659/662	19516162	1,13005	2203	4300	6503	SO:0001583	missense	0			AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1975G>A	9.37:g.19516162C>T	ENSP00000344801:p.Val659Ile		B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.V659I	ENST00000341998.2	37	c.1975	CCDS6493.1	9	.	.	.	.	.	.	.	.	.	.	C	8.943	0.966274	0.18659	2.27E-4	0.0	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.77877	-1.11;-1.13	5.42	3.55	0.40652	.	0.125951	0.53938	D	0.000050	T	0.67382	0.2887	L	0.38733	1.17	0.44579	D	0.997545	B;B	0.23937	0.094;0.074	B;B	0.27262	0.078;0.056	T	0.62044	-0.6937	9	.	.	.	.	12.4061	0.55441	0.0:0.8773:0.0:0.1227	.	642;659	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	I	659;642	ENSP00000344801:V659I;ENSP00000286344:V642I	.	V	-	1	0	SLC24A2	19506162	0.925000	0.31364	0.997000	0.53966	0.222000	0.24845	2.004000	0.40854	2.549000	0.85964	0.655000	0.94253	GTC	SLC24A2	-	NULL	ENSG00000155886		0.512	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A2	HGNC	protein_coding	OTTHUMT00000051866.2	-	0.00	58	0	C	NM_020344		19516162	-1	tier1	rs138630242	no_errors	ENST00000341998	ensembl	human	known	74_37	missense	25.53	35	12	SNP	0.996	T
SLC47A1	55244	genome.wustl.edu	37	17	19451353	19451353	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr17:19451353T>C	ENST00000270570.4	+	4	448	c.362T>C	c.(361-363)cTc>cCc	p.L121P	SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000575023.1_Missense_Mutation_p.L121P|SLC47A1_ENST00000457293.1_Missense_Mutation_p.L121P|SLC47A1_ENST00000542886.1_Missense_Mutation_p.L121P|SLC47A1_ENST00000436810.2_Missense_Mutation_p.L98P|SLC47A1_ENST00000571335.1_5'UTR|SLC47A1_ENST00000395585.1_Missense_Mutation_p.L121P	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	121					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	CGGAGTGCGCTCGTCCTGCTC	0.602																																																	0													142.0	118.0	126.0					17																	19451353		2203	4300	6503	SO:0001583	missense	0				CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.362T>C	17.37:g.19451353T>C	ENSP00000270570:p.Leu121Pro		Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	pfam_MATE,tigrfam_MATE	p.L121P	ENST00000270570.4	37	c.362	CCDS11209.1	17	.	.	.	.	.	.	.	.	.	.	T	15.14	2.745215	0.49151	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000542886;ENST00000395585	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.71256	0.3318	H	0.96269	3.795	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;0.999;0.998;0.993	T	0.81348	-0.0973	10	0.87932	D	0	-15.3473	13.8392	0.63428	0.0:0.0:0.0:1.0	.	98;121;121;121	E7EX57;B4DYV3;Q96FL8;Q96FL8-3	.;.;S47A1_HUMAN;.	P	98;121;121;121;121	ENSP00000407155:L98P;ENSP00000270570:L121P;ENSP00000415586:L121P;ENSP00000440435:L121P;ENSP00000378951:L121P	ENSP00000270570:L121P	L	+	2	0	SLC47A1	19391945	1.000000	0.71417	0.044000	0.18714	0.009000	0.06853	7.403000	0.79983	1.879000	0.54435	0.379000	0.24179	CTC	SLC47A1	-	pfam_MATE,tigrfam_MATE	ENSG00000142494		0.602	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC47A1	HGNC	protein_coding	OTTHUMT00000132250.1	-	0.00	60	0	T	NM_018242		19451353	+1	tier1	-	no_errors	ENST00000395585	ensembl	human	known	74_37	missense	57.14	9	12	SNP	0.997	C
SLCO1C1	53919	genome.wustl.edu	37	12	20885992	20885992	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr12:20885992G>T	ENST00000266509.2	+	10	1704	c.1336G>T	c.(1336-1338)Ggc>Tgc	p.G446C	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G328C|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.G446C|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G397C|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G446C	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	446					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	GTTTGCACTGGGCTGTGAAAA	0.383																																																	0													189.0	170.0	177.0					12																	20885992		2203	4300	6503	SO:0001583	missense	0			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1336G>T	12.37:g.20885992G>T	ENSP00000266509:p.Gly446Cys		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.G446C	ENST00000266509.2	37	c.1336	CCDS8683.1	12	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177053	0.57692	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.93	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.051465	0.85682	D	0.000000	T	0.81645	0.4866	M	0.91354	3.2	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.999;0.998;0.998	D;D;D;D	0.76071	0.987;0.976;0.976;0.976	D	0.85670	0.1294	10	0.72032	D	0.01	.	18.7166	0.91678	0.0:0.0:1.0:0.0	.	328;397;446;446	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	C	446;397;446;446;328	ENSP00000444149:G446C;ENSP00000438665:G397C;ENSP00000266509:G446C;ENSP00000370964:G446C;ENSP00000444527:G328C	ENSP00000266509:G446C	G	+	1	0	SLCO1C1	20777259	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.816000	0.48026	2.641000	0.89580	0.591000	0.81541	GGC	SLCO1C1	-	pfam_OA_transporter,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000139155		0.383	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1C1	HGNC	protein_coding	OTTHUMT00000401765.1	-	0.00	77	0	G	NM_017435		20885992	+1	tier1	-	no_errors	ENST00000381552	ensembl	human	known	74_37	missense	7.46	61	5	SNP	1.000	T
SLC4A8	9498	genome.wustl.edu	37	12	51855063	51855063	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr12:51855063C>G	ENST00000453097.2	+	9	1306	c.1089C>G	c.(1087-1089)atC>atG	p.I363M	SLC4A8_ENST00000535225.2_Missense_Mutation_p.I310M|SLC4A8_ENST00000514353.3_Missense_Mutation_p.I310M|SLC4A8_ENST00000358657.3_Missense_Mutation_p.I390M|SLC4A8_ENST00000394856.1_Missense_Mutation_p.I310M	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TGGCCACCATCATGACAGATG	0.408																																																	0													152.0	133.0	140.0					12																	51855063		2203	4300	6503	SO:0001583	missense	0			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1089C>G	12.37:g.51855063C>G	ENSP00000405812:p.Ile363Met			Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.I363M	ENST00000453097.2	37	c.1089	CCDS44890.1	12	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501159	0.64298	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000547697;ENST00000551071	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	5.85	5.85	0.93711	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.043281	0.85682	D	0.000000	T	0.69602	0.3129	L	0.39898	1.24	0.45295	D	0.998296	P;P;P;P;B;P;P	0.51791	0.934;0.887;0.948;0.454;0.399;0.599;0.948	P;P;P;P;P;P;P	0.54210	0.541;0.562;0.745;0.703;0.578;0.745;0.66	T	0.71381	-0.4610	10	0.87932	D	0	.	14.1914	0.65641	0.1497:0.8503:0.0:0.0	.	310;390;310;363;363;363;310	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6;F8VSA8	.;.;.;S4A8_HUMAN;.;.;.	M	310;390;363;310;363;310;310;310	ENSP00000441520:I310M;ENSP00000351483:I390M;ENSP00000405812:I363M;ENSP00000378325:I310M;ENSP00000442561:I310M	ENSP00000315789:I363M	I	+	3	3	SLC4A8	50141330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.090000	0.30902	2.941000	0.99782	0.655000	0.94253	ATC	SLC4A8	-	pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk	ENSG00000050438		0.408	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A8	HGNC	protein_coding	OTTHUMT00000404356.1	-	0.00	50	0	C	NM_004858		51855063	+1	tier1	-	no_errors	ENST00000453097	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	G
SLFN12	55106	genome.wustl.edu	37	17	33738520	33738520	+	Missense_Mutation	SNP	G	G	T	rs556155131		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr17:33738520G>T	ENST00000394562.1	-	6	2097	c.1574C>A	c.(1573-1575)aCa>aAa	p.T525K	SLFN12_ENST00000304905.5_Missense_Mutation_p.T525K|RP11-686D22.8_ENST00000587012.1_RNA|SLFN12_ENST00000452764.3_Missense_Mutation_p.T525K|SLFN12_ENST00000460530.1_5'UTR			Q8IYM2	SLN12_HUMAN	schlafen family member 12	525							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTTCCTTCTTGTAAAATAGTA	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		19007	0.0		0.0	False		,,,				2504	0.001																0													69.0	68.0	68.0					17																	33738520		2203	4300	6503	SO:0001583	missense	0			AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.1574C>A	17.37:g.33738520G>T	ENSP00000378063:p.Thr525Lys		A8K711|Q9NP47	Missense_Mutation	SNP	pfam_ATPase_AAA-4	p.T525K	ENST00000394562.1	37	c.1574	CCDS11295.1	17	.	.	.	.	.	.	.	.	.	.	G	10.72	1.431143	0.25726	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764	T;T;T	0.03889	3.77;3.77;3.77	2.34	-3.17	0.05202	.	.	.	.	.	T	0.03136	0.0092	L	0.36672	1.1	0.09310	N	1	B	0.24963	0.115	B	0.20577	0.03	T	0.46148	-0.9212	9	0.21014	T	0.42	.	2.937	0.05817	0.5069:0.0:0.2835:0.2096	.	525	Q8IYM2	SLN12_HUMAN	K	525	ENSP00000378063:T525K;ENSP00000302077:T525K;ENSP00000394903:T525K	ENSP00000302077:T525K	T	-	2	0	SLFN12	30762633	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.530000	0.00944	-0.750000	0.04740	-0.310000	0.09108	ACA	SLFN12	-	NULL	ENSG00000172123		0.388	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLFN12	HGNC	protein_coding	OTTHUMT00000256491.1	-	0.00	104	0	G	NM_018042		33738520	-1	tier1	-	no_errors	ENST00000304905	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.000	T
SNX18	112574	genome.wustl.edu	37	5	53814766	53814766	+	Silent	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr5:53814766G>A	ENST00000326277.3	+	1	1174	c.984G>A	c.(982-984)ccG>ccA	p.P328P	SNX18_ENST00000343017.6_Silent_p.P328P|SNX18_ENST00000381410.4_Silent_p.P328P	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	328	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				AGAAGTTCCCGGTCATCTCCG	0.637																																																	0													32.0	34.0	33.0					5																	53814766		2203	4300	6503	SO:0001819	synonymous_variant	0			AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.984G>A	5.37:g.53814766G>A			B4E2B3|H7BXX3|Q05BB3|Q0VG02	Silent	SNP	pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain	p.P328	ENST00000326277.3	37	c.984	CCDS3962.1	5																																																																																			SNX18	-	pfam_Phox,superfamily_Phox,smart_Phox,pirsf_Snx9,pfscan_Phox	ENSG00000178996		0.637	SNX18-001	KNOWN	basic|CCDS	protein_coding	SNX18	HGNC	protein_coding	OTTHUMT00000214072.2	-	0.00	88	0	G			53814766	+1	tier1	-	no_errors	ENST00000326277	ensembl	human	known	74_37	silent	75.00	10	30	SNP	0.138	A
SOCS6	9306	genome.wustl.edu	37	18	67992659	67992659	+	Missense_Mutation	SNP	C	C	A	rs374835963		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr18:67992659C>A	ENST00000397942.3	+	2	1071	c.755C>A	c.(754-756)gCg>gAg	p.A252E	SOCS6_ENST00000582322.1_Missense_Mutation_p.A252E	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	252					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)		p.A252V(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GAAGTCTCTGCGGTTCCTCCT	0.537																																					Melanoma(84;1024 1361 24382 36583 42651)												1	Substitution - Missense(1)	large_intestine(1)											93.0	77.0	82.0					18																	67992659		2203	4300	6503	SO:0001583	missense	0			AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.755C>A	18.37:g.67992659C>A	ENSP00000381034:p.Ala252Glu		Q8WUM3	Missense_Mutation	SNP	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.A252E	ENST00000397942.3	37	c.755	CCDS11998.1	18	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270073	0.40194	.	.	ENSG00000170677	ENST00000397942	T	0.26373	1.74	5.25	5.25	0.73442	.	0.739566	0.12917	N	0.428480	T	0.21145	0.0509	N	0.14661	0.345	0.38201	D	0.94018	B	0.20887	0.049	B	0.20384	0.029	T	0.13980	-1.0489	10	0.66056	D	0.02	-12.8814	18.8773	0.92343	0.0:1.0:0.0:0.0	.	252	O14544	SOCS6_HUMAN	E	252	ENSP00000381034:A252E	ENSP00000381034:A252E	A	+	2	0	SOCS6	66143639	0.903000	0.30736	0.438000	0.26821	0.506000	0.33950	5.655000	0.67981	2.441000	0.82636	0.655000	0.94253	GCG	SOCS6	-	NULL	ENSG00000170677		0.537	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS6	HGNC	protein_coding	OTTHUMT00000256270.2		0.00	49	0	C			67992659	+1			no_errors	ENST00000397942	ensembl	human	known	74_37	missense	6.90	26	2	SNP	0.916	A
SON	6651	genome.wustl.edu	37	21	34927065	34927065	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr21:34927065C>A	ENST00000356577.4	+	3	6003	c.5528C>A	c.(5527-5529)tCt>tAt	p.S1843Y	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.S1843Y|SON_ENST00000290239.6_Missense_Mutation_p.S1843Y|SON_ENST00000300278.4_Missense_Mutation_p.S1843Y	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1843					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ACCAGTGAATCTCGTTCTAGG	0.458																																																	0													88.0	88.0	88.0					21																	34927065		2203	4300	6503	SO:0001583	missense	0			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.5528C>A	21.37:g.34927065C>A	ENSP00000348984:p.Ser1843Tyr		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom	p.S1843Y	ENST00000356577.4	37	c.5528	CCDS13629.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.67|15.67	2.901480|2.901480	0.52227|0.52227	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000436227|ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	.|T;T;T;T	.|0.69435	.|-0.4;-0.4;-0.4;2.1	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.50627	.|D	.|0.000118	T|T	0.69369|0.69369	0.3103|0.3103	N|N	0.08118|0.08118	0|0	0.53688|0.53688	D|D	0.999979|0.999979	.|D;D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.999;0.996;0.999;0.998;0.998	T|T	0.77056|0.77056	-0.2729|-0.2729	5|10	.|0.87932	.|D	.|0	.|.	19.7329|19.7329	0.96190|0.96190	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1843;1843;1524;1843;1843	.|P18583-10;P18583;P18583-2;P18583-3;P18583-6	.|.;SON_HUMAN;.;.;.	I|Y	838|1843	.|ENSP00000348984:S1843Y;ENSP00000290239:S1843Y;ENSP00000300278:S1843Y;ENSP00000371095:S1843Y	.|ENSP00000290239:S1843Y	L|S	+|+	1|2	0|0	SON|SON	33848935|33848935	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.557000|4.557000	0.60782|0.60782	2.663000|2.663000	0.90544|0.90544	0.655000|0.655000	0.94253|0.94253	CTC|TCT	SON	-	NULL	ENSG00000159140		0.458	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	HGNC	protein_coding	OTTHUMT00000140978.2	-	0.00	34	0	C	NM_138927		34927065	+1	tier1	-	no_errors	ENST00000356577	ensembl	human	known	74_37	missense	63.16	14	24	SNP	1.000	A
SOX11	6664	genome.wustl.edu	37	2	5833526	5833528	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	GAC	GAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr2:5833526_5833528delGAC	ENST00000322002.3	+	1	728_730	c.673_675delGAC	c.(673-675)gacdel	p.D233del	AC010729.1_ENST00000455579.2_RNA|AC108025.2_ENST00000420221.1_RNA|AC108025.2_ENST00000453678.1_RNA|AC107057.2_ENST00000458264.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	233	Poly-Asp.				cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		TCTGGATGAGgacgacgacgacg	0.7																																																	0										5,289,3358		0,0,5,14,261,1546						-1.6	1.0			10	5,655,6658		0,0,5,23,609,3022	no	codingComplex	SOX11	NM_003108.3		0,0,10,37,870,4568	A1A1,A1A2,A1R,A2A2,A2R,RR		9.0189,8.0504,8.6964				10,944,10016				SO:0001651	inframe_deletion	0				CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.673_675delGAC	2.37:g.5833535_5833537delGAC	ENSP00000322568:p.Asp233del		Q4ZFV8	In_Frame_Del	DEL	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom	p.D228in_frame_del	ENST00000322002.3	37	c.673_675	CCDS1654.1	2																																																																																			SOX11	-	pirsf_SOX-12/11/4a	ENSG00000176887		0.700	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX11	HGNC	protein_coding	OTTHUMT00000206698.1		0.00	19	0	GAC	NM_003108		5833528	+1	tier1		no_errors	ENST00000322002	ensembl	human	known	74_37	in_frame_del	15.79	16	3	DEL	1.000:1.000:0.999	-
SRL	6345	genome.wustl.edu	37	16	4245563	4245563	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr16:4245563G>T	ENST00000399609.3	-	5	613	c.601C>A	c.(601-603)Caa>Aaa	p.Q201K	SRL_ENST00000537996.1_Missense_Mutation_p.Q159K	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	660	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						CCTCTTTCTTGCTGCTTGCGG	0.448																																																	0													128.0	125.0	126.0					16																	4245563		1914	4131	6045	SO:0001583	missense	0			AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.601C>A	16.37:g.4245563G>T	ENSP00000382518:p.Gln201Lys			Missense_Mutation	SNP	pfam_Dynamin_GTPase,pfam_GTP_binding_domain,superfamily_P-loop_NTPase	p.Q201K	ENST00000399609.3	37	c.601	CCDS42113.1	16	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180996	0.38511	.	.	ENSG00000185739	ENST00000399609;ENST00000330063;ENST00000537996	D;D	0.96716	-4.1;-4.1	5.1	5.1	0.69264	.	0.000000	0.85682	U	0.000000	D	0.95351	0.8491	N	0.20685	0.6	0.80722	D	1	D	0.58268	0.982	D	0.70227	0.968	D	0.90858	0.4736	10	0.02654	T	1	-11.4775	19.0659	0.93110	0.0:0.0:1.0:0.0	.	201	Q86TD4-2	.	K	201;659;159	ENSP00000382518:Q201K;ENSP00000440350:Q159K	ENSP00000333285:Q659K	Q	-	1	0	SRL	4185564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.567000	0.98161	2.797000	0.96272	0.655000	0.94253	CAA	SRL	-	pfam_Dynamin_GTPase,pfam_GTP_binding_domain,superfamily_P-loop_NTPase	ENSG00000185739		0.448	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRL	HGNC	protein_coding	OTTHUMT00000438087.1	-	0.00	76	0	G	XM_064152		4245563	-1	tier1	-	no_errors	ENST00000399609	ensembl	human	known	74_37	missense	27.66	34	13	SNP	1.000	T
SSR1	6745	genome.wustl.edu	37	6	7288157	7288158	+	3'UTR	INS	-	-	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:7288157_7288158insA	ENST00000244763.4	-	0	2886_2887				RP11-69L16.4_ENST00000379928.4_RNA|SSR1_ENST00000534851.1_3'UTR|SSR1_ENST00000397511.2_3'UTR|SSR1_ENST00000474597.1_Intron	NM_003144.3	NP_003135.2	P43307	SSRA_HUMAN	signal sequence receptor, alpha						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|positive regulation of cell proliferation (GO:0008284)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					caatctatgctaaaaaaaaaaa	0.356																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS4499.1	6p24.3	2010-11-24	2008-08-26		ENSG00000124783	ENSG00000124783			11323	protein-coding gene	gene with protein product	"""translocon-associated protein alpha"""	600868					Standard	NM_001292008		Approved	TRAPA	uc003mxf.4	P43307	OTTHUMG00000014202	ENST00000244763.4:c.*1940->T	6.37:g.7288168_7288168dupA			A8K685|Q53GX2|Q53H19|Q5TAM3|Q6IB43|Q8NBH9|Q96IA2|Q9TNQ8|Q9UN49	Splice_Site	INS	-	NULL	ENST00000244763.4	37	c.NULL	CCDS4499.1	6																																																																																			SSR1	-	-	ENSG00000124783		0.356	SSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSR1	HGNC	protein_coding	OTTHUMT00000039775.2		0.00	22	0	-			7288158	-1	tier1		no_errors	ENST00000475213	ensembl	human	known	74_37	splice_site_ins	10.00	27	3	INS	0.292:0.226	A
ST6GAL2	84620	genome.wustl.edu	37	2	107459702	107459702	+	Silent	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr2:107459702G>A	ENST00000409382.3	-	2	1342	c.732C>T	c.(730-732)gcC>gcT	p.A244A	ST6GAL2_ENST00000361686.4_Silent_p.A244A|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Silent_p.A244A	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	244					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TGCTCAGCCCGGCCTCCCGCT	0.692																																																	0													11.0	12.0	12.0					2																	107459702		2195	4294	6489	SO:0001819	synonymous_variant	0			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.732C>T	2.37:g.107459702G>A			D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Silent	SNP	pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl	p.A244	ENST00000409382.3	37	c.732	CCDS2073.1	2																																																																																			ST6GAL2	-	NULL	ENSG00000144057		0.692	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ST6GAL2	HGNC	protein_coding	OTTHUMT00000330065.1		0.00	33	0	G	NM_032528		107459702	-1			no_errors	ENST00000361686	ensembl	human	known	74_37	silent	14.29	18	3	SNP	0.000	A
STAP2	55620	genome.wustl.edu	37	19	4333712	4333712	+	Silent	SNP	C	C	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:4333712C>A	ENST00000594605.1	-	3	399	c.276G>T	c.(274-276)cgG>cgT	p.R92R	STAP2_ENST00000600324.1_Silent_p.R92R	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	92	PH.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCCTGATCCCGGAGAATCA	0.547																																																	0													71.0	66.0	68.0					19																	4333712		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.276G>T	19.37:g.4333712C>A			A6NKK3|Q9NXI2	Silent	SNP	pfscan_SH2	p.R92	ENST00000594605.1	37	c.276	CCDS45926.1	19																																																																																			STAP2	-	NULL	ENSG00000178078		0.547	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAP2	HGNC	protein_coding	OTTHUMT00000458114.2		0.00	66	0	C	NM_001013841		4333712	-1			no_errors	ENST00000600324	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.000	A
STK33	65975	genome.wustl.edu	37	11	8494768	8494768	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:8494768C>T	ENST00000447869.1	-	2	1199	c.281G>A	c.(280-282)gGc>gAc	p.G94D	STK33_ENST00000534493.1_Missense_Mutation_p.G53D|STK33_ENST00000358872.3_Intron|STK33_ENST00000396673.1_Missense_Mutation_p.G94D|STK33_ENST00000315204.1_Missense_Mutation_p.G94D|STK33_ENST00000396672.1_Missense_Mutation_p.G94D			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	94					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G94D(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TGTAAAGTTGCCCCGACCCCA	0.368																																																	2	Substitution - Missense(2)	endometrium(2)											158.0	155.0	156.0					11																	8494768		2201	4296	6497	SO:0001583	missense	0			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.281G>A	11.37:g.8494768C>T	ENSP00000416750:p.Gly94Asp		Q658S6|Q8NEF5	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.G94D	ENST00000447869.1	37	c.281	CCDS7789.1	11	.	.	.	.	.	.	.	.	.	.	C	10.77	1.443953	0.25987	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000396673;ENST00000534493;ENST00000524760;ENST00000418597;ENST00000422559;ENST00000457885	T;T;T;T;T;T;T;T;T	0.75704	-0.52;-0.52;-0.52;-0.51;-0.48;-0.96;-0.3;0.36;1.4	5.41	1.08	0.20341	.	0.753768	0.13197	N	0.406279	T	0.60025	0.2237	L	0.43152	1.355	0.09310	N	1	B	0.26195	0.144	B	0.20955	0.032	T	0.50516	-0.8819	10	0.44086	T	0.13	.	3.7969	0.08743	0.2571:0.4127:0.2516:0.0786	.	94	Q9BYT3	STK33_HUMAN	D	94;94;94;94;53;44;53;53;94	ENSP00000416750:G94D;ENSP00000320754:G94D;ENSP00000379905:G94D;ENSP00000379906:G94D;ENSP00000436418:G53D;ENSP00000436905:G44D;ENSP00000391362:G53D;ENSP00000411510:G53D;ENSP00000403599:G94D	ENSP00000320754:G94D	G	-	2	0	STK33	8451344	0.074000	0.21230	0.070000	0.20053	0.955000	0.61496	0.163000	0.16520	0.625000	0.30304	-0.291000	0.09656	GGC	STK33	-	NULL	ENSG00000130413		0.368	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STK33	HGNC	protein_coding	OTTHUMT00000276819.2		0.00	77	0	C	NM_030906		8494768	-1			no_errors	ENST00000315204	ensembl	human	known	74_37	missense	6.12	45	3	SNP	0.007	T
SYMPK	8189	genome.wustl.edu	37	19	46330851	46330851	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:46330851G>A	ENST00000245934.7	-	16	2342	c.2098C>T	c.(2098-2100)Cga>Tga	p.R700*	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	700					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ATCAGGTCTCGAAGTGTGGAC	0.592																																																	0													119.0	88.0	98.0					19																	46330851		2203	4300	6503	SO:0001587	stop_gained	0			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.2098C>T	19.37:g.46330851G>A	ENSP00000245934:p.Arg700*		O00521|O00689|O00733|Q59GT5|Q8N2U5	Nonsense_Mutation	SNP	pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold	p.R700*	ENST00000245934.7	37	c.2098	CCDS12676.2	19	.	.	.	.	.	.	.	.	.	.	G	41	8.918694	0.99002	.	.	ENSG00000125755	ENST00000245934	.	.	.	5.04	3.98	0.46160	.	0.139524	0.46758	D	0.000266	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	12.9587	0.58444	0.0:0.1706:0.8294:0.0	.	.	.	.	X	700	.	ENSP00000245934:R700X	R	-	1	2	SYMPK	51022691	1.000000	0.71417	0.752000	0.31206	0.985000	0.73830	3.564000	0.53791	1.336000	0.45506	0.650000	0.86243	CGA	SYMPK	-	superfamily_ARM-type_fold	ENSG00000125755		0.592	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYMPK	HGNC	protein_coding	OTTHUMT00000316581.1	-	0.00	88	0	G	NM_004819		46330851	-1	tier1	-	no_errors	ENST00000245934	ensembl	human	known	74_37	nonsense	31.25	55	25	SNP	0.961	A
SYNE1	23345	genome.wustl.edu	37	6	152644758	152644758	+	Missense_Mutation	SNP	C	C	T	rs577548641	byFrequency	TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:152644758C>T	ENST00000367255.5	-	82	16373	c.15772G>A	c.(15772-15774)Gtt>Att	p.V5258I	SYNE1_ENST00000423061.1_Missense_Mutation_p.V5187I|SYNE1_ENST00000448038.1_Missense_Mutation_p.V5187I|SYNE1_ENST00000341594.5_Missense_Mutation_p.V4951I|SYNE1_ENST00000265368.4_Missense_Mutation_p.V5258I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5258					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCTCCAGAACGAACGTGTCG	0.542										HNSCC(10;0.0054)			C|||	5	0.000998403	0.0	0.0	5008	,	,		17211	0.005		0.0	False		,,,				2504	0.0																0													92.0	88.0	89.0					6																	152644758		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15772G>A	6.37:g.152644758C>T	ENSP00000356224:p.Val5258Ile		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.V5258I	ENST00000367255.5	37	c.15772	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	4.393	0.072538	0.08436	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	5.25	-10.5	0.00291	.	2.783250	0.01565	N	0.020327	T	0.04137	0.0115	N	0.13043	0.29	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.0;0.0;0.001	T	0.09185	-1.0686	10	0.13853	T	0.58	.	4.9598	0.14061	0.0735:0.1499:0.3095:0.4672	.	5258;5258;5258;5187	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	I	5258;5187;5258;5187;4951	ENSP00000356224:V5258I;ENSP00000396024:V5187I;ENSP00000265368:V5258I;ENSP00000390975:V5187I;ENSP00000341887:V4951I	ENSP00000265368:V5258I	V	-	1	0	SYNE1	152686451	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.825000	0.04433	-2.628000	0.00436	-1.054000	0.02325	GTT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.542	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0.00	39	0	C	NM_182961		152644758	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	62.96	10	17	SNP	0.000	T
SYNGR1	9145	genome.wustl.edu	37	22	39760253	39760253	+	Intron	SNP	C	C	T	rs151233936		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr22:39760253C>T	ENST00000328933.5	+	2	114				SYNGR1_ENST00000381535.4_Silent_p.S18S|SYNGR1_ENST00000318801.4_Intron|SYNGR1_ENST00000216155.7_Intron|SYNGR1_ENST00000406293.3_Intron	NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1						protein targeting (GO:0006605)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle membrane (GO:0030672)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					GGATAGGCAGCTGGACACAGA	0.597																																																	0								C	,,	1,4405	2.1+/-5.4	0,1,2202	155.0	134.0	141.0		,,54	1.5	0.1	22	dbSNP_134	141	0,8600		0,0,4300	no	intron,intron,coding-synonymous	SYNGR1	NM_004711.4,NM_145731.3,NM_145738.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	,,18/193	39760253	1,13005	2203	4300	6503	SO:0001627	intron_variant	0			AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321			11498	protein-coding gene	gene with protein product		603925				9760194, 10595519	Standard	NM_004711		Approved			O43759	OTTHUMG00000030978	ENST00000328933.5:c.100-10068C>T	22.37:g.39760253C>T			A6NP69|A8K0E2|O43757|O43758|Q53Y02|Q96J56|Q9UGZ4	Silent	SNP	pfam_Marvel	p.S18	ENST00000328933.5	37	c.54	CCDS13989.1	22																																																																																			SYNGR1	-	NULL	ENSG00000100321		0.597	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGR1	HGNC	protein_coding	OTTHUMT00000075866.2	-	0.00	78	0	C	NM_004711		39760253	+1	tier1	rs151233936	no_errors	ENST00000381535	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.069	T
SYT9	143425	genome.wustl.edu	37	11	7334873	7334873	+	Missense_Mutation	SNP	G	G	A	rs374567594		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:7334873G>A	ENST00000318881.6	+	3	982	c.745G>A	c.(745-747)Gcc>Acc	p.A249T	SYT9_ENST00000396716.2_Missense_Mutation_p.A217T	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	249	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.A249T(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CAATTTGCCCGCCAAGGACTT	0.408																																																	1	Substitution - Missense(1)	pancreas(1)						G	THR/ALA	0,4402		0,0,2201	112.0	113.0	112.0		745	5.9	1.0	11		112	1,8591	1.2+/-3.3	0,1,4295	no	missense	SYT9	NM_175733.3	58	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	249/492	7334873	1,12993	2201	4296	6497	SO:0001583	missense	0			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.745G>A	11.37:g.7334873G>A	ENSP00000324419:p.Ala249Thr			Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.A249T	ENST00000318881.6	37	c.745	CCDS7778.1	11	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000779	0.93227	0.0	1.16E-4	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.70282	-0.47;-0.47	5.87	5.87	0.94306	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.64402	D	0.000001	T	0.82176	0.4980	M	0.75085	2.285	0.80722	D	1	D	0.60575	0.988	P	0.58331	0.837	D	0.83373	0.0008	10	0.87932	D	0	.	18.0718	0.89410	0.0:0.0:1.0:0.0	.	249	Q86SS6	SYT9_HUMAN	T	217;249	ENSP00000379944:A217T;ENSP00000324419:A249T	ENSP00000324419:A249T	A	+	1	0	SYT9	7291449	1.000000	0.71417	0.974000	0.42286	0.984000	0.73092	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	GCC	SYT9	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	ENSG00000170743		0.408	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT9	HGNC	protein_coding	OTTHUMT00000384483.1		0.00	53	0	G	NM_175733		7334873	+1			no_errors	ENST00000318881	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	A
TAF5L	27097	genome.wustl.edu	37	1	229730322	229730322	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:229730322C>T	ENST00000366676.1	-	4	1491	c.1492G>A	c.(1492-1494)Gcc>Acc	p.A498T	TAF5L_ENST00000258281.2_Missense_Mutation_p.A498T			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	498					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GTCCCAGAGGCCAAGTCCCAC	0.572																																																	0													73.0	74.0	73.0					1																	229730322		2203	4300	6503	SO:0001583	missense	0			AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.1492G>A	1.37:g.229730322C>T	ENSP00000355636:p.Ala498Thr		Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A498T	ENST00000366676.1	37	c.1492	CCDS1581.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967046	0.74131	.	.	ENSG00000135801	ENST00000366676;ENST00000258281	T;T	0.81078	-1.45;-1.45	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85423	0.5693	L	0.31476	0.935	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84122	0.0407	10	0.41790	T	0.15	-31.8333	20.4239	0.99064	0.0:1.0:0.0:0.0	.	498	O75529	TAF5L_HUMAN	T	498	ENSP00000355636:A498T;ENSP00000258281:A498T	ENSP00000258281:A498T	A	-	1	0	TAF5L	227796945	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.937000	0.70162	2.828000	0.97474	0.655000	0.94253	GCC	TAF5L	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000135801		0.572	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF5L	HGNC	protein_coding	OTTHUMT00000095229.1	-	0.00	65	0	C	NM_014409		229730322	-1	tier1	-	no_errors	ENST00000258281	ensembl	human	known	74_37	missense	7.04	66	5	SNP	1.000	T
TBP	6908	genome.wustl.edu	37	6	170871043	170871043	+	Silent	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000230354.6_Silent_p.Q73Q|TBP_ENST00000540980.1_Silent_p.Q53Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562																																																	1	Substitution - coding silent(1)	endometrium(1)											17.0	21.0	20.0					6																	170871043		1987	3877	5864	SO:0001819	synonymous_variant	0			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.219G>A	6.37:g.170871043G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	pfam_TBP,prints_TBP	p.Q73	ENST00000392092.2	37	c.219	CCDS5315.1	6																																																																																			TBP	-	NULL	ENSG00000112592		0.562	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	-	0.00	80	0	G	NM_003194		170871043	+1	tier1	-	no_errors	ENST00000230354	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.964	A
TFAP4	7023	genome.wustl.edu	37	16	4311926	4311926	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr16:4311926G>A	ENST00000204517.6	-	4	707	c.379C>T	c.(379-381)Cga>Tga	p.R127*		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	127					cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GCCCGCCGTCGCTTGGGGGAC	0.662											OREG0023575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													28.0	27.0	27.0					16																	4311926		2196	4300	6496	SO:0001587	stop_gained	0			X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"""Basic helix-loop-helix proteins"""	11745	protein-coding gene	gene with protein product		600743	"""transcription factor AP-4 (activating enhancer-binding protein 4)"""			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.379C>T	16.37:g.4311926G>A	ENSP00000204517:p.Arg127*	617	O60409	Nonsense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R127*	ENST00000204517.6	37	c.379	CCDS10510.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.948574	0.97134	.	.	ENSG00000090447	ENST00000204517	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.46	0.61221	0.0:0.0:0.8432:0.1568	.	.	.	.	X	127	.	ENSP00000204517:R127X	R	-	1	2	TFAP4	4251927	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.498000	0.66931	2.457000	0.83068	0.561000	0.74099	CGA	TFAP4	-	NULL	ENSG00000090447		0.662	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP4	HGNC	protein_coding	OTTHUMT00000251595.2	-	0.00	69	0	G	NM_003223		4311926	-1	tier1	-	no_errors	ENST00000204517	ensembl	human	known	74_37	nonsense	32.08	35	17	SNP	1.000	A
THSD4	79875	genome.wustl.edu	37	15	71535400	71535400	+	Missense_Mutation	SNP	G	G	T	rs191217897		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr15:71535400G>T	ENST00000355327.3	+	5	1011	c.877G>T	c.(877-879)Ggg>Tgg	p.G293W	THSD4_ENST00000261862.6_Missense_Mutation_p.G293W			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	293	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTCATGCATCGGGGCCTATCG	0.552																																																	0													60.0	62.0	62.0					15																	71535400		1999	4188	6187	SO:0001583	missense	0			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.877G>T	15.37:g.71535400G>T	ENSP00000347484:p.Gly293Trp		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.G293W	ENST00000355327.3	37	c.877	CCDS10238.2	15	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134764	0.77662	.	.	ENSG00000187720	ENST00000355327;ENST00000261862	T;T	0.09445	2.98;2.98	5.76	5.76	0.90799	.	0.625444	0.16805	N	0.198816	T	0.27663	0.0680	L	0.40543	1.245	0.51233	D	0.999914	D	0.89917	1.0	D	0.97110	1.0	T	0.00314	-1.1824	10	0.87932	D	0	.	17.4509	0.87592	0.0:0.0:1.0:0.0	.	293	Q6ZMP0	THSD4_HUMAN	W	293	ENSP00000347484:G293W;ENSP00000261862:G293W	ENSP00000261862:G293W	G	+	1	0	THSD4	69322454	1.000000	0.71417	0.996000	0.52242	0.895000	0.52256	6.650000	0.74368	2.721000	0.93114	0.655000	0.94253	GGG	THSD4	-	pfscan_Thrombospondin_1_rpt	ENSG00000187720		0.552	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THSD4	HGNC	protein_coding	OTTHUMT00000257253.2	-	0.00	59	0	G	NM_024817		71535400	+1	tier1	-	no_errors	ENST00000261862	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.998	T
TLR10	81793	genome.wustl.edu	37	4	38774956	38774956	+	Silent	SNP	T	T	C			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr4:38774956T>C	ENST00000308973.4	-	4	2861	c.2256A>G	c.(2254-2256)aaA>aaG	p.K752K	TLR10_ENST00000508334.1_Silent_p.K752K|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000506111.1_Silent_p.K752K|TLR10_ENST00000361424.2_Silent_p.K752K	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	752	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CCAAGTATGCTTTTTTTTCCA	0.388																																																	0													81.0	81.0	81.0					4																	38774956		2203	4300	6503	SO:0001819	synonymous_variant	0			AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.2256A>G	4.37:g.38774956T>C			A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Silent	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.K752	ENST00000308973.4	37	c.2256	CCDS3445.1	4																																																																																			TLR10	-	pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom	ENSG00000174123		0.388	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR10	HGNC	protein_coding	OTTHUMT00000250430.1	-	0.00	121	0	T			38774956	-1	tier1	-	no_errors	ENST00000308973	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.718	C
TNKS1BP1	85456	genome.wustl.edu	37	11	57068026	57068026	+	Silent	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:57068026C>T	ENST00000532437.1	-	10	5489	c.5178G>A	c.(5176-5178)aaG>aaA	p.K1726K	TNKS1BP1_ENST00000358252.3_Silent_p.K1726K			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1726	Arg/Glu/Lys-rich (charged).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGACCTTCTTCTTCTTCAGTT	0.552																																																	0													191.0	162.0	172.0					11																	57068026		2201	4296	6497	SO:0001819	synonymous_variant	0			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.5178G>A	11.37:g.57068026C>T			A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	NULL	p.K1726	ENST00000532437.1	37	c.5178	CCDS7951.1	11																																																																																			TNKS1BP1	-	NULL	ENSG00000149115		0.552	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	HGNC	protein_coding	OTTHUMT00000392455.1	-	0.00	51	0	C	NM_033396		57068026	-1	tier1	-	no_errors	ENST00000358252	ensembl	human	known	74_37	silent	88.24	2	15	SNP	1.000	T
TOE1	114034	genome.wustl.edu	37	1	45807158	45807158	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:45807158C>T	ENST00000372090.5	+	4	833	c.250C>T	c.(250-252)Cgt>Tgt	p.R84C	MUTYH_ENST00000372115.3_5'Flank|MUTYH_ENST00000355498.2_5'Flank|MUTYH_ENST00000529984.1_5'Flank|MUTYH_ENST00000372098.3_5'Flank|TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000372110.3_5'Flank|MUTYH_ENST00000372104.1_5'Flank|MUTYH_ENST00000531105.1_5'Flank|TOE1_ENST00000539779.1_Intron|MUTYH_ENST00000528013.2_5'Flank|TESK2_ENST00000486676.1_5'Flank|MUTYH_ENST00000354383.6_5'Flank|MUTYH_ENST00000448481.1_5'Flank|MUTYH_ENST00000488731.2_5'Flank|MUTYH_ENST00000450313.1_5'Flank|MUTYH_ENST00000528332.2_5'Flank|MUTYH_ENST00000456914.2_5'Flank|MUTYH_ENST00000372100.5_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	84						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					CATTGAGGAACGTTACAAGGC	0.577																																																	0													74.0	70.0	71.0					1																	45807158		2203	4300	6503	SO:0001583	missense	0				CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.250C>T	1.37:g.45807158C>T	ENSP00000361162:p.Arg84Cys		B4DEM6|Q6IA35|Q8IWN5|Q9H846	Missense_Mutation	SNP	pfam_RNase_CAF1,pfam_Znf_CCCH,superfamily_RNaseH-like_dom	p.R84C	ENST00000372090.5	37	c.250	CCDS521.1	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026815	0.75390	.	.	ENSG00000132773	ENST00000372090	T	0.26067	1.76	5.46	5.46	0.80206	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.55033	0.1895	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.59306	-0.7479	10	0.62326	D	0.03	-12.2959	14.1613	0.65448	0.1499:0.8501:0.0:0.0	.	90;84	B4DP23;Q96GM8	.;TOE1_HUMAN	C	84	ENSP00000361162:R84C	ENSP00000361162:R84C	R	+	1	0	TOE1	45579745	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	1.523000	0.35932	2.719000	0.93026	0.555000	0.69702	CGT	TOE1	-	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	ENSG00000132773		0.577	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOE1	HGNC	protein_coding	OTTHUMT00000020517.1		0.00	27	0	C	NM_025077		45807158	+1			no_errors	ENST00000372090	ensembl	human	known	74_37	missense	28.57	15	6	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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"""	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102.0	94.0	97.0					17																	7578190		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Y220C	ENST00000269305.4	37	c.659	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	77	0	T	NM_000546		7578190	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	69.77	13	30	SNP	0.998	C
CACNA1H	8912	genome.wustl.edu	37	16	1272838	1272838	+	IGR	SNP	G	G	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr16:1272838G>T	ENST00000348261.5	+	0	8084				TPSG1_ENST00000234798.4_Missense_Mutation_p.Q109K	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit						aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	AGGATGATCTGCCTCACGGTG	0.647																																																	0													45.0	31.0	36.0					16																	1272838		2196	4297	6493	SO:0001628	intergenic_variant	0			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180			16.37:g.1272838G>T			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.Q109K	ENST00000348261.5	37	c.325	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	g	0.158	-1.084565	0.01888	.	.	ENSG00000116176	ENST00000234798	D	0.92099	-2.97	2.42	-1.63	0.08345	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.75347	0.3837	N	0.02973	-0.45	0.09310	N	1	B	0.14438	0.01	B	0.15052	0.012	T	0.64071	-0.6493	9	0.21014	T	0.42	.	3.818	0.08824	0.1463:0.0:0.3022:0.5515	.	109	Q9NRR2	TRYG1_HUMAN	K	109	ENSP00000234798:Q109K	ENSP00000234798:Q109K	Q	-	1	0	TPSG1	1212839	0.000000	0.05858	0.002000	0.10522	0.187000	0.23431	0.085000	0.14912	-0.068000	0.12953	0.556000	0.70494	CAG	TPSG1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000116176		0.647	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	TPSG1	HGNC	protein_coding	OTTHUMT00000421601.1	-	0.00	113	0	G	NM_001005407		1272838	-1	tier1	-	no_errors	ENST00000234798	ensembl	human	known	74_37	missense	65.71	36	69	SNP	0.000	T
TSEN2	80746	genome.wustl.edu	37	3	12544842	12544842	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr3:12544842G>T	ENST00000284995.6	+	5	777	c.390G>T	c.(388-390)aaG>aaT	p.K130N	RNU6-404P_ENST00000515968.1_RNA|TSEN2_ENST00000454502.2_Missense_Mutation_p.K130N|TSEN2_ENST00000383797.5_Missense_Mutation_p.K130N|TSEN2_ENST00000415684.1_Missense_Mutation_p.K130N|TSEN2_ENST00000314571.7_Missense_Mutation_p.K130N|TSEN2_ENST00000402228.3_Missense_Mutation_p.K130N|TSEN2_ENST00000444864.1_Missense_Mutation_p.K130N	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	130					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GAATCCTCAAGGATTACACGA	0.488																																																	0													115.0	105.0	108.0					3																	12544842		2203	4300	6503	SO:0001583	missense	0			BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"""tRNA splicing endonuclease subunits"""	28422	protein-coding gene	gene with protein product		608753	"""tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)"", ""tRNA splicing endonuclease 2 homolog (S. cerevisiae)"""			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.390G>T	3.37:g.12544842G>T	ENSP00000284995:p.Lys130Asn		B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Missense_Mutation	SNP	pfam_tRNA_intron_Endonuc_cat-like,pfam_tRNA_intron_Endonuc_N,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN2	p.K130N	ENST00000284995.6	37	c.390	CCDS2611.1	3	.	.	.	.	.	.	.	.	.	.	G	9.913	1.210080	0.22289	.	.	ENSG00000154743	ENST00000446004;ENST00000314571;ENST00000454502;ENST00000383797;ENST00000402228;ENST00000284995;ENST00000444864;ENST00000537959;ENST00000415684	T;T;T;T;T;T;T;T	0.55588	0.52;0.51;0.52;0.51;0.52;0.52;0.51;0.51	4.92	1.84	0.25277	.	0.732688	0.13155	N	0.409576	T	0.29491	0.0735	N	0.08118	0	0.09310	N	1	B;B;B;B	0.32010	0.351;0.145;0.202;0.042	B;B;B;B	0.32465	0.146;0.048;0.104;0.048	T	0.15809	-1.0424	10	0.34782	T	0.22	-5.3814	7.4449	0.27205	0.3129:0.0:0.6871:0.0	.	130;130;130;130	G5E9Q3;Q8NCE0;Q8NCE0-3;C9IZI7	.;SEN2_HUMAN;.;.	N	130;130;130;130;130;130;130;103;130	ENSP00000406238:K130N;ENSP00000323188:K130N;ENSP00000392029:K130N;ENSP00000373307:K130N;ENSP00000385976:K130N;ENSP00000284995:K130N;ENSP00000407974:K130N;ENSP00000416510:K130N	ENSP00000284995:K130N	K	+	3	2	TSEN2	12519842	0.587000	0.26791	0.011000	0.14972	0.086000	0.17979	0.533000	0.23082	0.120000	0.18254	0.609000	0.83330	AAG	TSEN2	-	pirsf_tRNA_splic_SEN2	ENSG00000154743		0.488	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSEN2	HGNC	protein_coding	OTTHUMT00000251981.1	-	0.00	61	0	G	NM_025265		12544842	+1	tier1	-	no_errors	ENST00000284995	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.199	T
TSPAN2	10100	genome.wustl.edu	37	1	115604801	115604801	+	Silent	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:115604801G>A	ENST00000369516.2	-	3	256	c.225C>T	c.(223-225)ttC>ttT	p.F75F	TSPAN2_ENST00000369514.2_Silent_p.F75F|TSPAN2_ENST00000369515.2_Silent_p.F75F	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	75					astrocyte development (GO:0014002)|axon development (GO:0061564)|brain development (GO:0007420)|inflammatory response (GO:0006954)|microglia development (GO:0014005)|myelination (GO:0042552)|oligodendrocyte differentiation (GO:0048709)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CGCAGCACCCGAAGAACCCCA	0.632																																																	0													52.0	45.0	47.0					1																	115604801		2203	4297	6500	SO:0001819	synonymous_variant	0			AF054839	CCDS881.1	1p13.1	2013-02-14			ENSG00000134198	ENSG00000134198		"""Tetraspanins"""	20659	protein-coding gene	gene with protein product		613133				9714763, 11739647	Standard	NM_005725		Approved	TSPAN-2, TSN2, FLJ12082	uc001eft.3	O60636	OTTHUMG00000011878	ENST00000369516.2:c.225C>T	1.37:g.115604801G>A			D6PTH4|Q5TET2|Q8WU05	Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.F75	ENST00000369516.2	37	c.225	CCDS881.1	1																																																																																			TSPAN2	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin	ENSG00000134198		0.632	TSPAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN2	HGNC	protein_coding	OTTHUMT00000032828.1	-	0.00	217	0	G	NM_005725		115604801	-1	tier1	-	no_errors	ENST00000369516	ensembl	human	known	74_37	silent	32.67	68	33	SNP	0.951	A
TTN	7273	genome.wustl.edu	37	2	179434879	179434879	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr2:179434879C>T	ENST00000591111.1	-	276	71281	c.71057G>A	c.(71056-71058)aGa>aAa	p.R23686K	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16262K|TTN_ENST00000359218.5_Missense_Mutation_p.R16387K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16454K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22759K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R25327K|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23686	Fibronectin type-III 72. {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)			AGATGCTGGTCTTTCCCATAC	0.433																																																	0													160.0	148.0	152.0					2																	179434879		1942	4152	6094	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.71057G>A	2.37:g.179434879C>T	ENSP00000465570:p.Arg23686Lys		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.R22759K	ENST00000591111.1	37	c.68276		2	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681697	0.47991	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.87	4.99	0.66335	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58206	0.2106	L	0.48986	1.54	0.40833	D	0.983602	P;P;P;P	0.45634	0.863;0.863;0.863;0.773	P;P;P;P	0.48227	0.571;0.571;0.571;0.474	T	0.64512	-0.6390	9	0.87932	D	0	.	17.2695	0.87097	0.0:0.8747:0.1253:0.0	.	16262;16387;16454;23686	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	22759;16262;16454;16387;16260	ENSP00000343764:R22759K;ENSP00000434586:R16262K;ENSP00000340554:R16454K;ENSP00000352154:R16387K	ENSP00000340554:R16454K	R	-	2	0	TTN	179143125	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	4.872000	0.63050	1.455000	0.47813	0.650000	0.86243	AGA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	40	0	C	NM_133378		179434879	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	43.33	17	13	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179593369	179593369	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr2:179593369A>T	ENST00000591111.1	-	64	18557	c.18333T>A	c.(18331-18333)agT>agA	p.S6111R	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S5184R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S6428R			Q8WZ42	TITIN_HUMAN	titin	12898	Ig-like 42.				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)			AAAAGTATCTACTGGGAACTA	0.408																																																	0													86.0	76.0	79.0					2																	179593369		1834	4105	5939	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.18333T>A	2.37:g.179593369A>T	ENSP00000465570:p.Ser6111Arg		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.S5184R	ENST00000591111.1	37	c.15552		2	.	.	.	.	.	.	.	.	.	.	A	8.742	0.919264	0.17982	.	.	ENSG00000155657	ENST00000342992	T	0.49432	0.78	5.63	-1.05	0.10036	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62270	0.2414	M	0.67517	2.055	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.63906	-0.6531	9	0.87932	D	0	.	12.5314	0.56117	0.5205:0.0:0.4795:0.0	.	6111	Q8WZ42	TITIN_HUMAN	R	5184	ENSP00000343764:S5184R	ENSP00000343764:S5184R	S	-	3	2	TTN	179301614	0.995000	0.38212	0.987000	0.45799	0.850000	0.48378	0.879000	0.28146	-0.316000	0.08690	-0.408000	0.06270	AGT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	51	0	A	NM_133378		179593369	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.993	T
TULP2	7288	genome.wustl.edu	37	19	49388731	49388731	+	Silent	SNP	G	G	A	rs377635669		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:49388731G>A	ENST00000221399.3	-	9	1179	c.1035C>T	c.(1033-1035)gaC>gaT	p.D345D		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	345					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		AATTGTCCCCGTCCCGAGATA	0.547																																																	0								G		0,4406		0,0,2203	198.0	161.0	173.0		1035	0.3	0.7	19		173	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TULP2	NM_003323.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		345/521	49388731	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"""cancer/testis antigen 65"""	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.1035C>T	19.37:g.49388731G>A			Q8TC50	Silent	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N	p.D345	ENST00000221399.3	37	c.1035	CCDS12739.1	19																																																																																			TULP2	-	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C	ENSG00000104804		0.547	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP2	HGNC	protein_coding	OTTHUMT00000378633.1	-	0.00	84	0	G	NM_003323		49388731	-1	tier1	-	no_errors	ENST00000221399	ensembl	human	known	74_37	silent	19.64	45	11	SNP	0.983	A
UFSP2	55325	genome.wustl.edu	37	4	186329540	186329540	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr4:186329540C>T	ENST00000264689.6	-	8	997	c.881G>A	c.(880-882)cGc>cAc	p.R294H		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	294						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GTCATCTATGCGATCCTGCAT	0.408																																																	0													116.0	105.0	109.0					4																	186329540		2203	4300	6503	SO:0001583	missense	0			AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"""chromosome 4 open reading frame 20"""	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.881G>A	4.37:g.186329540C>T	ENSP00000264689:p.Arg294His		Q6IA77|Q96FS3	Missense_Mutation	SNP	pfam_Peptidase_C78_UfSP1/2	p.R294H	ENST00000264689.6	37	c.881	CCDS3842.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.42|10.42	1.346615|1.346615	0.24426|0.24426	.|.	.|.	ENSG00000109775|ENSG00000109775	ENST00000509180|ENST00000264689	.|T	.|0.30182	.|1.54	6.03|6.03	3.12|3.12	0.35913|0.35913	.|.	.|0.172675	.|0.52532	.|N	.|0.000070	T|T	0.33177|0.33177	0.0854|0.0854	M|M	0.75777|0.75777	2.31|2.31	0.58432|0.58432	D|D	0.999998|0.999998	.|B;B	.|0.19935	.|0.04;0.004	.|B;B	.|0.19148	.|0.024;0.004	T|T	0.13282|0.13282	-1.0515|-1.0515	5|10	.|0.38643	.|T	.|0.18	-5.7094|-5.7094	11.5582|11.5582	0.50761|0.50761	0.0:0.771:0.0:0.229|0.0:0.771:0.0:0.229	.|.	.|294;194	.|Q9NUQ7;B3KRI4	.|UFSP2_HUMAN;.	T|H	23|294	.|ENSP00000264689:R294H	.|ENSP00000264689:R294H	A|R	-|-	1|2	0|0	UFSP2|UFSP2	186566534|186566534	0.795000|0.795000	0.28851|0.28851	0.525000|0.525000	0.27900|0.27900	0.261000|0.261000	0.26267|0.26267	1.573000|1.573000	0.36472|0.36472	0.749000|0.749000	0.32854|0.32854	0.655000|0.655000	0.94253|0.94253	GCA|CGC	UFSP2	-	pfam_Peptidase_C78_UfSP1/2	ENSG00000109775		0.408	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFSP2	HGNC	protein_coding	OTTHUMT00000360589.2	-	0.00	42	0	C	NM_018359		186329540	-1	tier1	-	no_errors	ENST00000264689	ensembl	human	known	74_37	missense	26.47	25	9	SNP	0.890	T
UNC13C	440279	genome.wustl.edu	37	15	54556406	54556406	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr15:54556406G>T	ENST00000260323.11	+	8	3489	c.3489G>T	c.(3487-3489)aaG>aaT	p.K1163N	UNC13C_ENST00000537900.1_Missense_Mutation_p.K1161N|UNC13C_ENST00000545554.1_Missense_Mutation_p.K1163N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1163					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)		CCGAAGACAAGACTCAGACCA	0.378																																																	0													58.0	52.0	54.0					15																	54556406		1867	4089	5956	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.3489G>T	15.37:g.54556406G>T	ENSP00000260323:p.Lys1163Asn		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.K1163N	ENST00000260323.11	37	c.3489	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516457	0.64634	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.80824	-1.42;-1.42;-1.42	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.82342	0.5016	L	0.52905	1.665	0.45704	D	0.99861	D	0.63880	0.993	P	0.53954	0.738	D	0.83385	0.0014	10	0.72032	D	0.01	.	10.3968	0.44205	0.1494:0.0:0.8506:0.0	.	1163	Q8NB66	UN13C_HUMAN	N	1163;1163;1161	ENSP00000260323:K1163N;ENSP00000438156:K1163N;ENSP00000442569:K1161N	ENSP00000260323:K1163N	K	+	3	2	UNC13C	52343698	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.149000	0.31626	2.760000	0.94817	0.655000	0.94253	AAG	UNC13C	-	NULL	ENSG00000137766		0.378	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0.00	64	0	G	NM_173166		54556406	+1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T
USH2A	7399	genome.wustl.edu	37	1	216256830	216256830	+	Missense_Mutation	SNP	C	C	T	rs143208990		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:216256830C>T	ENST00000307340.3	-	26	5652	c.5266G>A	c.(5266-5268)Gtt>Att	p.V1756I	RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.V1756I|RP11-22M7.2_ENST00000446411.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1756	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)	p.V1756I(1)		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)		TTGTTATAAACGAAAAGAAGC	0.303										HNSCC(13;0.011)			C|||	1	0.000199681	0.0	0.0	5008	,	,		15339	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	ovary(1)						C	ILE/VAL	1,4403	2.1+/-5.4	0,1,2201	96.0	100.0	99.0		5266	-1.9	0.4	1	dbSNP_134	99	0,8598		0,0,4299	no	missense	USH2A	NM_206933.2	29	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	benign	1756/5203	216256830	1,13001	2202	4299	6501	SO:0001583	missense	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.5266G>A	1.37:g.216256830C>T	ENSP00000305941:p.Val1756Ile		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	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.V1756I	ENST00000307340.3	37	c.5266	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	6.896	0.534809	0.13188	2.27E-4	0.0	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.77750	-1.12;-1.12	4.38	-1.89	0.07689	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.783880	0.10646	N	0.650406	T	0.55862	0.1947	N	0.12471	0.22	0.09310	N	0.999998	B	0.10296	0.003	B	0.10450	0.005	T	0.37911	-0.9685	10	0.10377	T	0.69	.	11.0688	0.47991	0.0:0.2969:0.0:0.7031	.	1756	O75445	USH2A_HUMAN	I	1756	ENSP00000305941:V1756I;ENSP00000355910:V1756I	ENSP00000305941:V1756I	V	-	1	0	USH2A	214323453	0.008000	0.16893	0.367000	0.25926	0.938000	0.57974	-0.574000	0.05868	-0.673000	0.05259	-0.136000	0.14681	GTT	USH2A	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G	ENSG00000042781		0.303	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0.00	134	0	C	NM_007123		216256830	-1	tier1	rs143208990	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	22.84	125	37	SNP	0.472	T
USP12	219333	genome.wustl.edu	37	13	27645219	27645219	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr13:27645219C>T	ENST00000282344.6	-	8	1256	c.1000G>A	c.(1000-1002)Gac>Aac	p.D334N		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	334	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TCTACAATGTCGTCATCAAAC	0.289																																					Ovarian(37;808 911 7590 44442 44991)												0													66.0	66.0	66.0					13																	27645219		2203	4298	6501	SO:0001583	missense	0			AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"""Ubiquitin-specific peptidases"""	20485	protein-coding gene	gene with protein product			"""ubiquitin specific protease 12 like 1"", ""ubiquitin specific protease 12"""	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.1000G>A	13.37:g.27645219C>T	ENSP00000282344:p.Asp334Asn		A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.D334N	ENST00000282344.6	37	c.1000	CCDS31952.1	13	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657602	0.67586	.	.	ENSG00000152484	ENST00000282344	T	0.32515	1.45	4.91	4.06	0.47325	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.45013	0.1321	M	0.64630	1.985	0.80722	D	1	D	0.54397	0.966	P	0.54026	0.74	T	0.48670	-0.9015	10	0.62326	D	0.03	-20.342	14.801	0.69916	0.1456:0.8544:0.0:0.0	.	334	O75317	UBP12_HUMAN	N	334	ENSP00000282344:D334N	ENSP00000282344:D334N	D	-	1	0	USP12	26543219	1.000000	0.71417	1.000000	0.80357	0.348000	0.29142	7.689000	0.84165	1.186000	0.42985	-0.181000	0.13052	GAC	USP12	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000152484		0.289	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP12	HGNC	protein_coding	OTTHUMT00000044264.1	-	0.00	76	0	C	NM_182488		27645219	-1	tier1	-	no_errors	ENST00000282344	ensembl	human	known	74_37	missense	41.38	51	36	SNP	1.000	T
VDAC1	7416	genome.wustl.edu	37	5	133326757	133326757	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr5:133326757A>G	ENST00000265333.3	-	4	450	c.206T>C	c.(205-207)cTg>cCg	p.L69P	VDAC1_ENST00000395044.3_Missense_Mutation_p.L69P|VDAC1_ENST00000395047.2_Missense_Mutation_p.L69P|VDAC1_ENST00000466080.1_5'UTR	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	69					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	TGTAAACGTCAGGCCGTACTC	0.453																																					NSCLC(127;1776 1806 35523 41489 48154)												0													198.0	177.0	184.0					5																	133326757		2203	4300	6503	SO:0001583	missense	0				CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"""Voltage-dependent anion channels"""	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.206T>C	5.37:g.133326757A>G	ENSP00000265333:p.Leu69Pro		B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Missense_Mutation	SNP	pfam_Porin_Euk/Tom40,prints_Porin_Euk	p.L69P	ENST00000265333.3	37	c.206	CCDS4168.1	5	.	.	.	.	.	.	.	.	.	.	A	27.9	4.872067	0.91587	.	.	ENSG00000213585	ENST00000265333;ENST00000395044;ENST00000395047;ENST00000425992	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.72510	0.3469	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79524	-0.1768	10	0.87932	D	0	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	69	P21796	VDAC1_HUMAN	P	69	ENSP00000265333:L69P;ENSP00000378484:L69P;ENSP00000378487:L69P;ENSP00000390129:L69P	ENSP00000265333:L69P	L	-	2	0	VDAC1	133354656	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.255000	0.95524	2.254000	0.74563	0.533000	0.62120	CTG	VDAC1	-	pfam_Porin_Euk/Tom40,prints_Porin_Euk	ENSG00000213585		0.453	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VDAC1	HGNC	protein_coding	OTTHUMT00000259208.1	-	0.00	101	0	A			133326757	-1	tier1	-	no_errors	ENST00000265333	ensembl	human	known	74_37	missense	40.00	57	38	SNP	1.000	G
VPS13D	55187	genome.wustl.edu	37	1	12351120	12351120	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:12351120G>C	ENST00000358136.3	+	23	5921	c.5791G>C	c.(5791-5793)Gag>Cag	p.E1931Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.E1931Q	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATGCCATGGAGAGTTCTACAG	0.413																																																	0													118.0	106.0	110.0					1																	12351120		2203	4300	6503	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.5791G>C	1.37:g.12351120G>C	ENSP00000350854:p.Glu1931Gln			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E1931Q	ENST00000358136.3	37	c.5791	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.96|14.96	2.690031|2.690031	0.48097|0.48097	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.53206	.|0.63;0.63	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.235542|0.235542	0.41712|0.41712	N|D	0.000822|0.000822	T|T	0.39963|0.39963	0.1098|0.1098	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|B;B	.|0.27656	.|0.184;0.115	.|B;B	.|0.36534	.|0.227;0.113	T|T	0.17592|0.17592	-1.0364|-1.0364	6|10	.|0.13108	.|T	.|0.6	.|.	19.3714|19.3714	0.94488|0.94488	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1931;1931	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	D|Q	753|1931	.|ENSP00000348666:E1931Q;ENSP00000350854:E1931Q	.|ENSP00000348666:E1931Q	E|E	+|+	3|1	2|0	VPS13D|VPS13D	12273707|12273707	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	7.585000|7.585000	0.82584|0.82584	2.579000|2.579000	0.87056|0.87056	0.655000|0.655000	0.94253|0.94253	GAG|GAG	VPS13D	-	NULL	ENSG00000048707		0.413	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	-	0.00	26	0	G	NM_015378		12351120	+1	tier1	-	no_errors	ENST00000358136	ensembl	human	known	74_37	missense	42.86	8	6	SNP	1.000	C
WDFY1	57590	genome.wustl.edu	37	2	224746742	224746742	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr2:224746742G>C	ENST00000233055.4	-	10	1083	c.981C>G	c.(979-981)agC>agG	p.S327R		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	327						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TTGAGCGCTTGCTGCTGCACT	0.502																																																	0													194.0	200.0	198.0					2																	224746742		2203	4300	6503	SO:0001583	missense	0			AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.981C>G	2.37:g.224746742G>C	ENSP00000233055:p.Ser327Arg		Q53S17|Q9H9D5|Q9P2B3	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S327R	ENST00000233055.4	37	c.981	CCDS33387.1	2	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386745	0.42308	.	.	ENSG00000085449	ENST00000233055	T	0.72942	-0.7	5.9	5.01	0.66863	Zinc finger, RING/FYVE/PHD-type (1);WD40 repeat-like-containing domain (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.091974	0.85682	D	0.000000	T	0.67239	0.2872	L	0.53561	1.675	0.58432	D	0.999991	P	0.42518	0.782	B	0.43867	0.434	T	0.63941	-0.6523	10	0.28530	T	0.3	-31.3349	11.7305	0.51735	0.1334:0.0:0.8666:0.0	.	327	Q8IWB7	WDFY1_HUMAN	R	327	ENSP00000233055:S327R	ENSP00000233055:S327R	S	-	3	2	WDFY1	224454986	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.575000	0.36493	2.788000	0.95919	0.650000	0.86243	AGC	WDFY1	-	pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	ENSG00000085449		0.502	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY1	HGNC	protein_coding	OTTHUMT00000330908.1	-	0.00	47	0	G	NM_020830		224746742	-1	tier1	-	no_errors	ENST00000233055	ensembl	human	known	74_37	missense	48.98	25	24	SNP	1.000	C
ZC3H10	84872	genome.wustl.edu	37	12	56512094	56512094	+	5'UTR	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr12:56512094C>T	ENST00000257940.2	+	0	152				ZC3H10_ENST00000549973.1_3'UTR|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.6_ENST00000550840.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10								metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			ACTACGGCGGCGGCGGCAGGT	0.701											OREG0021917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001623	5_prime_UTR_variant	0			BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"""Zinc fingers, CCCH-type domain containing"""	25893	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 10"""	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.-125C>T	12.37:g.56512094C>T		1016		RNA	SNP	-	NULL	ENST00000257940.2	37	NULL	CCDS8903.1	12																																																																																			ZC3H10	-	-	ENSG00000135482		0.701	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H10	HGNC	protein_coding	OTTHUMT00000407826.1	-	0.00	42	0	C	NM_032786		56512094	+1	tier1	-	no_errors	ENST00000549973	ensembl	human	known	74_37	rna	68.42	11	26	SNP	1.000	T
ZC3H13	23091	genome.wustl.edu	37	13	46559748	46559748	+	Silent	SNP	C	C	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr13:46559748C>T	ENST00000242848.4	-	10	1752	c.1404G>A	c.(1402-1404)agG>agA	p.R468R	ZC3H13_ENST00000282007.3_Silent_p.R468R			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	468	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTCTTAGTTCCCTTCGGTCCC	0.502																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0													210.0	201.0	204.0					13																	46559748		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1404G>A	13.37:g.46559748C>T			A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Silent	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R468	ENST00000242848.4	37	c.1404		13																																																																																			ZC3H13	-	NULL	ENSG00000123200		0.502	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	-	0.00	38	0	C	NM_015070		46559748	-1	tier1	-	no_errors	ENST00000242848	ensembl	human	known	74_37	silent	33.33	33	17	SNP	1.000	T
ZMAT4	79698	genome.wustl.edu	37	8	40438734	40438734	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr8:40438734G>T	ENST00000297737.6	-	6	770	c.624C>A	c.(622-624)aaC>aaA	p.N208K	ZMAT4_ENST00000315769.7_Missense_Mutation_p.N132K	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	208						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			GTTCTATTGAGTTTAGGGAGA	0.438																																																	0													218.0	177.0	191.0					8																	40438734		2203	4300	6503	SO:0001583	missense	0			AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"""Zinc fingers, matrin-type"""	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.624C>A	8.37:g.40438734G>T	ENSP00000297737:p.Asn208Lys		Q8WUT8	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.N208K	ENST00000297737.6	37	c.624	CCDS34885.1	8	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129738	0.77549	.	.	ENSG00000165061	ENST00000315769;ENST00000297737;ENST00000519406	T;T;T	0.48522	1.89;1.89;0.81	5.65	4.78	0.61160	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.045304	0.85682	D	0.000000	T	0.68842	0.3045	M	0.80982	2.52	0.44562	D	0.997523	D;D	0.89917	0.998;1.0	D;D	0.91635	0.972;0.999	T	0.73385	-0.3999	10	0.87932	D	0	-40.9365	12.3327	0.55049	0.0815:0.0:0.9185:0.0	.	132;208	Q9H898-2;Q9H898	.;ZMAT4_HUMAN	K	132;208;208	ENSP00000319785:N132K;ENSP00000297737:N208K;ENSP00000428423:N208K	ENSP00000297737:N208K	N	-	3	2	ZMAT4	40557891	1.000000	0.71417	0.996000	0.52242	0.961000	0.63080	4.652000	0.61454	1.385000	0.46445	0.655000	0.94253	AAC	ZMAT4	-	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	ENSG00000165061		0.438	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT4	HGNC	protein_coding	OTTHUMT00000376950.1	-	0.00	84	0	G	NM_024645		40438734	-1	tier1	-	no_errors	ENST00000297737	ensembl	human	known	74_37	missense	80.39	10	41	SNP	1.000	T
ZNF281	23528	genome.wustl.edu	37	1	200377974	200377974	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:200377974C>A	ENST00000294740.3	-	2	984	c.860G>T	c.(859-861)aGa>aTa	p.R287I	ZNF281_ENST00000367353.1_Missense_Mutation_p.R287I|ZNF281_ENST00000367352.3_Missense_Mutation_p.R251I	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	287					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CTGGAAAGGTCTTTCTCCTGT	0.443																																																	0													88.0	86.0	86.0					1																	200377974		2203	4300	6503	SO:0001583	missense	0			AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.860G>T	1.37:g.200377974C>A	ENSP00000294740:p.Arg287Ile		A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R287I	ENST00000294740.3	37	c.860	CCDS1402.1	1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858088	0.71834	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352	T;T;T	0.20332	2.08;2.08;2.08	5.64	5.64	0.86602	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.56108	0.1963	M	0.88842	2.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.63659	-0.6587	10	0.87932	D	0	0.5674	19.715	0.96113	0.0:1.0:0.0:0.0	.	251;287	A6NF48;Q9Y2X9	.;ZN281_HUMAN	I	287;287;251	ENSP00000294740:R287I;ENSP00000356322:R287I;ENSP00000356321:R251I	ENSP00000294740:R287I	R	-	2	0	ZNF281	198644597	0.998000	0.40836	0.518000	0.27811	0.997000	0.91878	5.957000	0.70323	2.644000	0.89710	0.655000	0.94253	AGA	ZNF281	-	pfscan_Znf_C2H2	ENSG00000162702		0.443	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF281	HGNC	protein_coding	OTTHUMT00000086879.2	-	0.00	66	0	C	NM_012482		200377974	-1	tier1	-	no_errors	ENST00000294740	ensembl	human	known	74_37	missense	48.28	30	28	SNP	0.996	A
ZNF562	54811	genome.wustl.edu	37	19	9763683	9763683	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:9763683G>C	ENST00000448622.1	-	6	1385	c.1223C>G	c.(1222-1224)aCc>aGc	p.T408S	ZNF562_ENST00000453372.2_Missense_Mutation_p.T408S|ZNF562_ENST00000590155.1_Missense_Mutation_p.T407S|ZNF562_ENST00000293648.4_Missense_Mutation_p.T336S|ZNF562_ENST00000541032.1_Missense_Mutation_p.T371S|ZNF562_ENST00000453792.2_Missense_Mutation_p.T339S|ZNF562_ENST00000537617.1_Missense_Mutation_p.T292S	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						AGTAATGAAGGTCTTCCCACA	0.393																																																	0													104.0	96.0	99.0					19																	9763683		2203	4300	6503	SO:0001583	missense	0			AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"""Zinc fingers, C2H2-type"", ""-"""	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.1223C>G	19.37:g.9763683G>C	ENSP00000411784:p.Thr408Ser		Q32MN2|Q9NXS5	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.T408S	ENST00000448622.1	37	c.1223	CCDS45956.1	19	.	.	.	.	.	.	.	.	.	.	G	10.92	1.488041	0.26686	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648;ENST00000541032;ENST00000453792;ENST00000537617	T;T;T;T;T;T	0.01178	5.22;5.22;5.22;5.22;5.22;5.22	1.67	0.551	0.17225	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01287	0.0042	N	0.01624	-0.795	0.09310	N	1	D;D;P;P;P	0.57257	0.974;0.979;0.889;0.889;0.865	D;D;P;B;B	0.71414	0.953;0.973;0.479;0.424;0.298	T	0.58070	-0.7701	9	0.49607	T	0.09	.	7.3791	0.26845	0.0:0.5444:0.4556:0.0	.	292;407;371;408;336	F5H1B4;B4DMG0;B4DZP9;Q6V9R5;Q6V9R5-2	.;.;.;ZN562_HUMAN;.	S	408;408;336;371;339;292	ENSP00000410734:T408S;ENSP00000411784:T408S;ENSP00000293648:T336S;ENSP00000442614:T371S;ENSP00000440451:T339S;ENSP00000445816:T292S	ENSP00000293648:T336S	T	-	2	0	ZNF562	9624683	0.000000	0.05858	0.039000	0.18376	0.051000	0.14879	0.231000	0.17872	0.241000	0.21283	0.313000	0.20887	ACC	ZNF562	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171466		0.393	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF562	HGNC	protein_coding	OTTHUMT00000450239.1	-	0.00	101	0	G	NM_017656		9763683	-1	tier1	-	no_errors	ENST00000448622	ensembl	human	known	74_37	missense	60.87	18	28	SNP	0.081	C
ZNF417	147687	genome.wustl.edu	37	19	58420048	58420048	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:58420048G>A	ENST00000312026.5	-	3	1762	c.1598C>T	c.(1597-1599)tCc>tTc	p.S533F	ZNF417_ENST00000595559.1_Missense_Mutation_p.S532F|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Missense_Mutation_p.S334F	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	533					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		AATGAGACTGGAACATTCAGC	0.398																																																	0													120.0	115.0	117.0					19																	58420048		2203	4300	6503	SO:0001583	missense	0			BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.1598C>T	19.37:g.58420048G>A	ENSP00000311319:p.Ser533Phe		B4DEU1	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.S533F	ENST00000312026.5	37	c.1598	CCDS12965.1	19	.	.	.	.	.	.	.	.	.	.	.	14.20	2.464729	0.43736	.	.	ENSG00000173480	ENST00000312026;ENST00000536263	T;T	0.01745	4.66;4.66	2.52	-0.11	0.13580	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03959	0.0111	M	0.89840	3.065	0.09310	N	1	B;B	0.27229	0.172;0.107	B;B	0.20955	0.032;0.014	T	0.19516	-1.0303	9	0.62326	D	0.03	.	6.5701	0.22533	0.1248:0.1834:0.6919:0.0	.	533;533	F5H0M9;Q8TAU3	.;ZN417_HUMAN	F	533;334	ENSP00000311319:S533F;ENSP00000442760:S334F	ENSP00000311319:S533F	S	-	2	0	ZNF417	63111860	0.000000	0.05858	0.001000	0.08648	0.508000	0.34012	-0.036000	0.12185	0.385000	0.24970	0.306000	0.20318	TCC	ZNF417	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173480		0.398	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF417	HGNC	protein_coding	OTTHUMT00000466860.1	-	0.00	135	0	G	NM_152475		58420048	-1	tier1	-	no_errors	ENST00000312026	ensembl	human	known	74_37	missense	9.09	90	9	SNP	0.000	A
ZNF672	79894	genome.wustl.edu	37	1	249142293	249142293	+	Missense_Mutation	SNP	C	C	T	rs371348856		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:249142293C>T	ENST00000306562.3	+	4	1566	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCTGCGCCATCGGCGCAGCCA	0.687																																																	0																																										SO:0001583	missense	0			AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"""Zinc fingers, C2H2-type"""	26179	protein-coding gene	gene with protein product	"""hypothetical protein FLJ22301"""					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.820C>T	1.37:g.249142293C>T	ENSP00000421915:p.Arg274Trp		Q96H65|Q96IM3|Q9H6G5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R274W	ENST00000306562.3	37	c.820	CCDS1638.1	1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853186	0.51270	.	.	ENSG00000171161	ENST00000306562	T	0.18810	2.19	3.32	1.34	0.21922	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.522525	0.14222	U	0.333358	T	0.31071	0.0785	M	0.70787	2.145	0.09310	N	1	D	0.69078	0.997	P	0.51229	0.663	T	0.12218	-1.0556	9	.	.	.	.	9.6637	0.39972	0.3584:0.6416:0.0:0.0	.	274	Q499Z4	ZN672_HUMAN	W	274	ENSP00000421915:R274W	.	R	+	1	2	ZNF672	247108916	0.022000	0.18835	0.603000	0.28903	0.566000	0.35808	0.651000	0.24873	0.217000	0.20800	0.561000	0.74099	CGG	ZNF672	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171161		0.687	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF672	HGNC	protein_coding	OTTHUMT00000097125.2	-	0.00	17	0	C	NM_024836		249142293	+1	tier1	-	no_errors	ENST00000306562	ensembl	human	known	74_37	missense	34.48	19	10	SNP	0.337	T
ZWILCH	55055	genome.wustl.edu	37	15	66806415	66806415	+	Silent	SNP	A	A	G			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr15:66806415A>G	ENST00000307897.5	+	3	575	c.195A>G	c.(193-195)gaA>gaG	p.E65E	ZWILCH_ENST00000565960.1_3'UTR|ZWILCH_ENST00000446801.2_5'UTR|RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000535141.2_5'UTR|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000565627.1_Intron	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	65					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TCATAGTGGAAAAAGTGGTAA	0.343																																																	0													57.0	57.0	57.0					15																	66806415		2201	4299	6500	SO:0001819	synonymous_variant	0			AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.195A>G	15.37:g.66806415A>G			B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Silent	SNP	pfam_RZZ-complex_zwilch	p.E65	ENST00000307897.5	37	c.195	CCDS10219.1	15																																																																																			ZWILCH	-	pfam_RZZ-complex_zwilch	ENSG00000174442		0.343	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZWILCH	HGNC	protein_coding	OTTHUMT00000256904.4		0.00	58	0	A	NM_017975		66806415	+1			no_errors	ENST00000307897	ensembl	human	known	74_37	silent	5.45	52	3	SNP	0.998	G
